The campaign for stem-cell research on Huntington’s disease took an important step forward on December 12.
The 29 members of the governing board of California’s $3 billion stem-cell institute heard from two leading HD researchers about the large potential of stem-cell research in developing treatments for HD. The presentations took place at the board’s monthly meeting, held at the University of California, Los Angeles. These influential leaders from academia, the bio-technology industry, and patient advocate groups will decide in the coming months whether a proposed California HD “disease team” will receive a $50,000 planning grant and potentially millions of dollars for an intensive, statewide effort to attack HD using stem cells.
A historic moment
For nearly an hour the Independent Citizens’ Oversight Committee (ICOC) of the California Institute for Regenerative Medicine (CIRM) watched a detailed presentation by Dr. Robert Pacifici, the chief scientific officer of the California-based Cure Huntington’s Disease Initiative, Inc. (CHDI), Dr. Hans Keirstead, a stem-cell dynamo at the University of California, Irvine, and HD activist Frances Saldaña of Orange County and her daughter Margie Hayes, one of three siblings who developed juvenile HD and the mother of two at-risk children.
Working with my fellow activists in the San Diego chapter of the Huntington’s Disease Society of America (HDSA), the Orange County affiliate, and the Los Angeles chapter, I spearheaded the organization of the CIRM’s “Spotlight on Huntington’s Disease.” Like previous CIRM spotlights on other diseases, this event was open to the public. I joined HD researchers, activists, and families from throughout southern California to provide support and witness this historic moment in Huntington’s disease advocacy.
HD takes center stage
I was especially heartened to see HD take center stage in California and hear the scientists’ optimism about stem cells for HD research. Many of us in the HD community have felt intuitively that stem cells are crucial in the search for a cure and should receive emphasis immediately. At the CIRM meeting I had the strong sensation of being fast-forwarded into a future where HD will no longer threaten the lives of people like Margie, who, her speech impeded and her body dancing uncontrollably, moved ICOC chair Robert Klein and the rest of the audience with her sad story of testing positive for HD, suffering discrimination, and becoming incapacitated.
CHDI efforts
Dr. Pacifici, whose non-profit CHDI has stepped in where the big drug companies have failed to venture, stressed the importance of stem cells in recreating the actual human version of the disease in a Petri dish. CHDI, he explained, has set up some twenty parallel programs aimed at finding treatments.
“Without exception there isn’t a program in our portfolio that wouldn’t benefit dramatically from having a stem-cell-derived cell population in its flow scheme,” he stated. HD stem cells would enable researchers to understand such puzzles as the differing ages of onset in those individuals with identical genetic defects (the so-called CAG repeats of Huntington’s disease) and whether brain cells are dying as a result of “murder or suicide.”
Significantly, stem cells would speed up the process of screening for drugs, Pacifici said.
New hope
Pacifici then offered the kind of hope that I could only dream of as my own mother withered away and ultimately died because of Huntington’s nearly two years ago – a hope that I can now cling to as I approach my own inevitable symptoms. The same cocktail of compounds used to turn stem cells into brain cells in a Petri dish, Pacifici stated, could be used as drugs to repopulate damaged areas of the brain with new cells. “It may be that we can change our aspiration from preventing or slowing Huntington’s, to actually reversing Huntington’s disease, if the promise of regenerative medicines and cell-based therapies comes to fruition,” he said.
Dr. Keirstead underscored the urgency of using stem cells in HD research and detailed how the hope can become reality.
“I was an absolute convert to HD,” said Keirstead of the request by UC Irvine colleague Dr. Leslie Thompson that he ply his internationally recognized stem-cell expertise in the area of Huntington’s. “Huntington’s disease is truly, in my opinion, one of the few diseases that’s applicable in the short-term” to two key stem-cell research strategies – using cells to understand how the disease works and to actually treat people. HD’s character as a disease with a single, discovered genetic cause and its impact on specific areas of the brain make it one of those unique candidates for stem-cell research, he explained.
Little scientific attention
Despite this enormous potential, HD stem-cell research has received little attention from the scientific community.
“It absolutely amazes me that there is not a handful – not one – human embryonic stem-cell line of HD…. Not a one in the entire world,” Keirstead stated, referring to the lack of scholarly articles on stem cells derived from human HD embryos. “That’s just remarkable. With the technologies of deriving embryonic stem cells from blastocysts [the human before it becomes an embryo], with the adoption of prenatal genetic diagnosis by many HD-bearing couples, it amazes me that we don’t yet have a stem-cell line or two or three or four or thirty or three hundred that bear this mutation, a mutation of a gene that we absolutely know of and that we have access to…. Yet we know precisely how to obtain those things. We know very routinely how to make them…. This is going to be one of the major, major tools.”
Keirstead and UCI are wasting no time in taking the lead. “We are deriving new lines at UCI,” Keirstead explained. “I have recently established relationships with fertility clinics. I now have access to over 10,000 blastocysts a month. That’s phenomenal…. We are already receiving phone calls from people with Huntington’s disease that have [gone to] fertility clinics that have HD-positive blastocysts that they would like to channel our way. I have about fourteen such individuals so far with the three fertility clinics that I am working with.”
Thinking long-term
Keirstead is a strategic thinker who sees the long-term implications of his work.
“You can’t walk into the FDA – two guys and a rat – and say, ‘Let me try this in humans,’” he said. Keirstead transforms stem cells into other cells in a manner compliant with the standards of the Food and Drug Administration and in quantities large enough to make their use commercially viable for large biotech companies. He deals in not just “a few cells in a dish,” but in the billions. Only in this way, he explained, will a company invest the many millions of dollars necessary to getting the stem-cell process to treatments. Keirstead’s work includes pushing stem cells to become neurons for the striatum, the area of the brain devastated by Huntington’s disease.
“I don’t think we should lose sight of the power of this. If we can actually make high-purity populations of striatal interneurons, what’s going to happen to this field is precisely what’s going to happen to the spinal cord field, which is: a commercial entity will come in and value-add, that more researchers will take those cells… and begin working on them in high-purity format. And we’re going to see a turning point. It’s the dawn of a new era for HD.”
Increased advocacy role
I hope that the CIRM spotlight on HD was also a new dawn for HD advocacy and Californians’ central role in it. In chairman Klein’s words, “The Huntington’s organization’s patient advocacy is extraordinary. I have tremendous respect for the passion, intensity, tenacity, and commitment of the Huntington’s organization.” Klein had earlier noted that HDSA was the only disease advocacy group to have done presentations in both the CIRM “spotlight” format and in the public hearing of the ICOC board. The previous presentation took place at the October 3 CIRM meeting in San Diego, where HDSA-San Diego president and San Diego Chargers’ public relations director Bill Johnston and his wife Ramona, who has HD, appealed to the board to support HD research.
The December 12 spotlight came just weeks after CHDI announced another stunning new project in HD research to take place in southern California. On October 26 CHDI and Carlsbad-based Isis Pharmaceuticals, Inc. revealed that they would collaborate in a multi-million-dollar effort to develop a drug to target directly the huntingtin gene, the cause of Huntington’s disease. I will write about this exciting development in a future entry.
Saturday, December 29, 2007
Sunday, September 09, 2007
The complications and stress of success
Living with a positive test result for the Huntington’s disease gene requires a constant juggling of life’s many demands and opportunities. What many would see as unambiguous success, for instance, actually causes new complications and stresses.
Take this blog. I haven’t posted here in several months. I would like to write several times per week. But job, family, chores, exercise, taking care of a new puppy, volunteering for the Huntington’s Disease Society of
The complications of success
In the past few months, unimaginable professional success has further diverted my focus from HD. I received an all-expenses-paid three-month trip to write a book, won a prize for another book, and have garnered numerous other accolades. I’m entering the prime of my career. The joys of such achievement have occasionally allowed me to forget my mother’s death at the hands of HD last year as well as my own at-risk status.
Success has created greater opportunities, but also made HD an even bigger factor in my professional life.
For the first time in 14 years, I have the chance to move to a better job. In my current job I’ve been but a cog in a mediocre machine, while the offer of a new job would allow me to join a team of people who truly appreciate my skills and want to employ them fully in an exciting work environment. I’d gain great prestige, a position of international leadership in my profession, and a 70-percent raise. I’d ultimately be positioned for a shot at the top jobs in my field.
The decision sounds like a “no brainer” – until you consider that I very likely could develop HD symptoms in the next few years. I’m 47, and my mother’s first symptoms, emotional outbursts, probably started around that time. By her early 50s, she had chorea (shaking), had stopped speaking normally, and could no longer take care of herself.
With that possible scenario in mind, should I take on a challenging new job? Unlike my mother, I know that I’m at risk, and perhaps I can stave off the symptoms until my sixties by eating and sleeping properly, exercising, and taking supplements recommended by the Huntington’s Disease Drug Works program (see www.hddrugworks.org).
However, because HD is a 100-percent genetically caused disease, there is no guarantee that I won’t get my first (noticeable) symptoms tomorrow morning.
The stress of success
The challenges of moving my family to another state, facing a higher mortgage, starting a new job, and certainly working longer and harder hours might not be worth it, especially since stress itself might trigger or worsen symptoms.
The financial rewards become far less significant when we consider that my wife would face a $30,000 cut in salary and lose some benefits, for example, an excellent retirement that we’re counting on for our future. Those losses are outweighed by my gains, but only if I remain healthy. If we had to rely on her lower salary and my much lower unemployment-related disability pay, we might face a bigger crunch than if we just stayed put.
Because of HD, just thinking about this opportunity has generated stress and enormous pain, frustration, and outright anger. I’ve frequently wanted to blurt out to my colleagues and the interviewers, who are anxious for me to accept the offer, that I can’t easily embrace this wonderful opportunity because I’m at risk for a deadly brain disease.
Paradoxically, I’ve chosen to stay in the “HD closet” precisely because revealing my status likely would lead potential employers to discriminate against me. Legally they can’t, but, in reality, they’d avoid a job candidate who might not be able to work more than a few years.
By moving, I’d also lose connections with the local HDSA chapter and a group of caring individuals with whom I share a life-and-death struggle. I could certainly volunteer for the chapter in my
Tough choices
I’ll be weighing the pros and cons of the job offer with my wife, close friends, and with you, my readers, in the coming weeks. Like many people affected by HD, I continue to prepare for the worst but live as best as I can. That attitude gives me eternal hope and keeps me professionally active and always in search of new job opportunities. But while I know that money and prestige are great boosts to anyone’s ego, they can’t solve the challenge of living at risk.
Giving up one’s dreams very early is one of the cruelest realities facing HD families. This hits especially hard when I think of my mother’s death at age 68 and of friends who have recently passed from the “at risk” to the “symptomatic” category. “You’re not just contemplating a job – you’re contemplating your whole life,” my wife tells me.
She believes that I am now beginning to understand her frustration at not having a second child. Having two children was her dream, but we abandoned the idea because of the stress involved in testing the child before birth – an experience we know all so well from having our first daughter, who tested negative (see my previous entry on this topic by clicking here). As my wife concludes about the dreams we’ve given up because of HD: “They’re so real and so close to you, yet they’re so far away.”
Monday, April 02, 2007
Dreaming of victory
The night after I wrote my previous entry (click here to read the article) on the New York Times’ recent front-page article on Huntington’s disease, I dreamt that the United States had won the Iraq war.
I read about it on the front page of the Times while sitting in a coffee shop. Everybody around me was reading the same page-one headlines. Next to the words was a photo of a V-E Day parade from 1945. Like the newspapers in Harry Potter movies, the picture came alive with moving cars and a soldier kissing a woman among falling confetti.
The United States was once again the undisputed leader of the world after smashing two evil powers. Nobody would mess with us as we led the world into a new era of unending peace and unbounded prosperity. I felt immense relief from the fear, unpredictability, and violence of war.
Finding the parallel
When I awoke the next morning, I knew immediately that the war in Iraq was my personal war against HD. Reading and writing about a major article on HD in one of the world’s most influential newspapers had triggered a powerful fantasy about the utter defeat of Huntington’s – another daunting effort – and the violence it wreaks on people’s minds and bodies and the lives of their loved ones.
Since discovering in late 1995 that my mother had HD, I have hunkered down in an emotional bunker. I have struggled to fight HD by dealing with my mother’s long decline and death (last year – click here to read the article), becoming an activist for the Huntington’s Disease Society of America, and wondering each day when the symptoms will start.
I tested positive for HD in 1999.
I am so fearful of the disease that I believe I must keep persistently vigilant so that it will not strike me. I put in long hours thinking about how to increase public awareness about HD and also the fundraising so necessary to keep scientists working towards treatments and a cure.
Dreaming forward
Seeing Huntington’s disease get such massive and rare publicity allowed me to come out of the bunker for a few hours to try to glimpse what my life would be without this disease.
That vivid, surreal dream and the almost indescribable peace it produced in me felt so real.
People in the HD community told me how they became overjoyed in 1993 when the huntingtin gene was discovered after years of intense research. But 14 years later we still seem so far from a cure. We’re back in the bunkers.
But we are all fervently praying and hoping for the announcement that an effective treatment or cure has been found. The defeat of HD will be a truly historic moment for a human race that seeks liberation from disease.
In the meantime, I must learn to fantasize and dream more often in order to get through the weary days of fear and struggle. And I need to channel the energy of those fantasies and dreams into the fight for a cure.
I read about it on the front page of the Times while sitting in a coffee shop. Everybody around me was reading the same page-one headlines. Next to the words was a photo of a V-E Day parade from 1945. Like the newspapers in Harry Potter movies, the picture came alive with moving cars and a soldier kissing a woman among falling confetti.
The United States was once again the undisputed leader of the world after smashing two evil powers. Nobody would mess with us as we led the world into a new era of unending peace and unbounded prosperity. I felt immense relief from the fear, unpredictability, and violence of war.
Finding the parallel
When I awoke the next morning, I knew immediately that the war in Iraq was my personal war against HD. Reading and writing about a major article on HD in one of the world’s most influential newspapers had triggered a powerful fantasy about the utter defeat of Huntington’s – another daunting effort – and the violence it wreaks on people’s minds and bodies and the lives of their loved ones.
Since discovering in late 1995 that my mother had HD, I have hunkered down in an emotional bunker. I have struggled to fight HD by dealing with my mother’s long decline and death (last year – click here to read the article), becoming an activist for the Huntington’s Disease Society of America, and wondering each day when the symptoms will start.
I tested positive for HD in 1999.
I am so fearful of the disease that I believe I must keep persistently vigilant so that it will not strike me. I put in long hours thinking about how to increase public awareness about HD and also the fundraising so necessary to keep scientists working towards treatments and a cure.
Dreaming forward
Seeing Huntington’s disease get such massive and rare publicity allowed me to come out of the bunker for a few hours to try to glimpse what my life would be without this disease.
That vivid, surreal dream and the almost indescribable peace it produced in me felt so real.
People in the HD community told me how they became overjoyed in 1993 when the huntingtin gene was discovered after years of intense research. But 14 years later we still seem so far from a cure. We’re back in the bunkers.
But we are all fervently praying and hoping for the announcement that an effective treatment or cure has been found. The defeat of HD will be a truly historic moment for a human race that seeks liberation from disease.
In the meantime, I must learn to fantasize and dream more often in order to get through the weary days of fear and struggle. And I need to channel the energy of those fantasies and dreams into the fight for a cure.
Sunday, March 18, 2007
Huntington's makes page one
Today was a very important moment for building awareness about Huntington’s disease: the New York Times, one of the world’s most influential newspapers, ran a long page-one story about a young woman’s brave decision to be tested at age 23 (click here to read the article).
It’s rare that HD gets such attention. Most people have not heard of HD, or they have only a vague notion of it. Like a lot of orphan diseases, it just doesn’t register with people. After I recently wrote a friend a long letter about my own gene-positive status, his response referred to “Hodgkin’s disease.”
I myself have tried to bring HD to the New York Times’ attention. A couple of years ago I submitted an article about my experience with HD to the paper’s Sunday magazine and then to its science section, but I allegedly had nothing new to say about the disease. Luckily, in September of 2005 the Washington Post published an article about my story written by Dr. Martha Nance of the Huntington’s Study Group (click here to read the article).
So I was thrilled to see reporter Amy Harmon’s well-written portrait of Katie Moser. The article outlined the history of HD in Katie’s extended family, the pros and cons of testing at such a young age, and the ways in which Katie has coped with living at risk. Harmon especially captured the psychological trauma people experience before and after testing.
Like me, Katie Moser faces a very long road of wondering when and how her symptoms will start. As I did, she may someday face the difficult decision of testing her own child for the genetic defect that causes HD. I think about HD every day. It’s a lifelong curse on me and my family.
But is there really a trend towards increased testing among young people, as the article claims? The reporter cited no empirical evidence to back up this claim. If young people indeed do want to get tested more, it’s simply the result of the availability of a test for HD (starting only in 1993) and the recent appearance of preimplantation genetic diagnosis (the testing of embryos). Their parents could not even dream of these possibilities. Interviews with more young at-risk people, including those who have had children, could have shed more light on the purported new trend.
The article also did not discuss some other important facets of the HD story. Did Katie attempt to line up all of her insurance coverage before testing? Why does research on HD and other rare diseases receive so little funding when, especially in the case of HD, they could provide the key to curing other diseases? Why, in fact, is HD so little known and understood? And why does it carry such a horrible stigma?
I’ve been writing on HD for nearly ten years and reading about it even longer. I didn’t see anything new in today’s piece. The article could have really driven home the point that HD is one of humanity’s cruelest diseases. As a friend of mine observed, the article could have connected with more people had it explored HD more forcefully.
I make these criticisms because the paper gave the reporter more than ample space – some 4,700 words – to explore HD fully. According to her own video on the newspaper’s website, she spent a year following Katie’s life.
But I still commend Harmon and the New York Times for bringing valuable exposure to Huntington’s disease. This, in fact, is the paper’s second article on HD in recent months. On November 14, 2006 it ran an article that described the stark descent of filmmaker Chris Furbee and his mother into the hell of HD. You can read that article by clicking here.
I urge the New York Times and the media in general to increase their coverage of HD and related diseases and of medical research in general. Tens of thousands of American families are affected by HD, and many million more people will get Parkinson’s, Alzheimer’s, and other neurological disorders. Whether we realize it or not, we are all in this struggle together.
It’s rare that HD gets such attention. Most people have not heard of HD, or they have only a vague notion of it. Like a lot of orphan diseases, it just doesn’t register with people. After I recently wrote a friend a long letter about my own gene-positive status, his response referred to “Hodgkin’s disease.”
I myself have tried to bring HD to the New York Times’ attention. A couple of years ago I submitted an article about my experience with HD to the paper’s Sunday magazine and then to its science section, but I allegedly had nothing new to say about the disease. Luckily, in September of 2005 the Washington Post published an article about my story written by Dr. Martha Nance of the Huntington’s Study Group (click here to read the article).
So I was thrilled to see reporter Amy Harmon’s well-written portrait of Katie Moser. The article outlined the history of HD in Katie’s extended family, the pros and cons of testing at such a young age, and the ways in which Katie has coped with living at risk. Harmon especially captured the psychological trauma people experience before and after testing.
Like me, Katie Moser faces a very long road of wondering when and how her symptoms will start. As I did, she may someday face the difficult decision of testing her own child for the genetic defect that causes HD. I think about HD every day. It’s a lifelong curse on me and my family.
But is there really a trend towards increased testing among young people, as the article claims? The reporter cited no empirical evidence to back up this claim. If young people indeed do want to get tested more, it’s simply the result of the availability of a test for HD (starting only in 1993) and the recent appearance of preimplantation genetic diagnosis (the testing of embryos). Their parents could not even dream of these possibilities. Interviews with more young at-risk people, including those who have had children, could have shed more light on the purported new trend.
The article also did not discuss some other important facets of the HD story. Did Katie attempt to line up all of her insurance coverage before testing? Why does research on HD and other rare diseases receive so little funding when, especially in the case of HD, they could provide the key to curing other diseases? Why, in fact, is HD so little known and understood? And why does it carry such a horrible stigma?
I’ve been writing on HD for nearly ten years and reading about it even longer. I didn’t see anything new in today’s piece. The article could have really driven home the point that HD is one of humanity’s cruelest diseases. As a friend of mine observed, the article could have connected with more people had it explored HD more forcefully.
I make these criticisms because the paper gave the reporter more than ample space – some 4,700 words – to explore HD fully. According to her own video on the newspaper’s website, she spent a year following Katie’s life.
But I still commend Harmon and the New York Times for bringing valuable exposure to Huntington’s disease. This, in fact, is the paper’s second article on HD in recent months. On November 14, 2006 it ran an article that described the stark descent of filmmaker Chris Furbee and his mother into the hell of HD. You can read that article by clicking here.
I urge the New York Times and the media in general to increase their coverage of HD and related diseases and of medical research in general. Tens of thousands of American families are affected by HD, and many million more people will get Parkinson’s, Alzheimer’s, and other neurological disorders. Whether we realize it or not, we are all in this struggle together.
Friday, March 16, 2007
Testing a new service
Dear Friends,
I now have close to 500 people who receive news of my blog via my e-mail, stophuntingtonsdisease@yahoo.com. That's a lot of addresses for me to manage, so I am thinking of joining a service that will reduce the workload of sending out so many e-mails. Such a service would also avoid my e-mails as being seen as spam or getting stuck in people's bulk mail boxes. Right now I'm testing Feedblitz. If you'd like to help me test this service, please subscribe by putting your e-mail address into the box in the upper-left-hand corner of the blog. Once I have made a final choice as to what service to use, I will notify you so that you can subscribe. The reason I'm posting this entry is because apparently the only time Feedblitz sends out e-mails to subscribers is when there is an actual update to my blog. I don't think I can send e-mails at will through Feedblitz.
Thanks for your help!
Yours in the struggle to cure diseases,
Gene Veritas
I now have close to 500 people who receive news of my blog via my e-mail, stophuntingtonsdisease@yahoo.com. That's a lot of addresses for me to manage, so I am thinking of joining a service that will reduce the workload of sending out so many e-mails. Such a service would also avoid my e-mails as being seen as spam or getting stuck in people's bulk mail boxes. Right now I'm testing Feedblitz. If you'd like to help me test this service, please subscribe by putting your e-mail address into the box in the upper-left-hand corner of the blog. Once I have made a final choice as to what service to use, I will notify you so that you can subscribe. The reason I'm posting this entry is because apparently the only time Feedblitz sends out e-mails to subscribers is when there is an actual update to my blog. I don't think I can send e-mails at will through Feedblitz.
Thanks for your help!
Yours in the struggle to cure diseases,
Gene Veritas
Tuesday, March 13, 2007
Uncertainty and a steadfast spouse
The forgotten people in the story of Huntington’s disease are the spouses and potential spouses of those at risk. Practically all of the energy of the HD movement goes into finding a treatment to alleviate the suffering of the ill and preventing the onset of the disease among the at-risk. Fundraisers, publications, and meetings seldom address the pain of the caregivers-to-be.
A recent e-mail from one of my readers painfully reminded me of this reality. He agreed to let me discuss his situation but wants to remain anonymous. I’ll call him Ed.
A love story
Several years ago Ed fell in love with a woman whose mother died of HD. However, the pressures of living with her at-risk status led them to argue frequently. Ed feared that his girlfriend might someday test positive for HD. Their relationship soon fell apart. She did not believe that Ed could really love her, and Ed found it difficult to manage the huge uncertainty of a life with an at-risk person.
Recently they bumped into each other and had their first serious conversation in two years. Still untested for the disease, Ed’s friend had gone on with her life and achieved many of her goals. “She seemed really happy,” Ed wrote. “I tell you all this, Gene, because I want you to understand that she does captivate me and, if I am being honest, my life over the past two years has been boring without her.”
Ed’s friend hinted that she wanted more than friendship. Ed again became scared. “My greatest fear is that one day the woman I love will be transformed and will be unrecognizable,” he wrote. “I don’t know if I can commit to this life. More importantly, I cannot let her down again.”
Ed’s predicament is one shared by all couples in the HD community – intense love challenged each and every day by the harsh reality of a fatal brain disease. “I just feel muted by the situation,” Ed confided to me. “I can’t share my fears with the person that I want to. If we can’t discuss the situation and our fears, those fears will fester and prove insurmountable, even in the short term.”
Just today I received another message from Ed stating that they had once again broken up.
A special person
There are no easy answers for Ed or anybody else in a similar quandary. Many people break off a relationship when they learn that the other person could get Huntington’s disease, and some marriages end in divorce when the at-risk person becomes ill. Caring for a person with HD becomes an ever more trying and time-consuming process. Sometimes the stress severely debilitates or even kills the caregiver first.
Only a very special person can successfully navigate through the treacherous swamp of uncertainty presented by HD. That special quality includes more than love and commitment. It requires the ability to plan each day for the worst but to maintain eternal optimism about the hope for a treatment, a cure, or simply a delay of the disease’s onset.
I am thankful every moment that my wife is that person. We had been married for only three years when HD intruded on our lives. We did not yet have a child, so it would have been very easy for my wife to ask for a divorce. But I don’t think the thought ever crossed her mind. Somehow we knew we were together for life, and she remained loyal. For her the biggest challenge was not about deciding whether to stay with me, but learning how to adapt to a new reality and to make life as normal as possible in a highly abnormal and difficult situation.
Inner strength
My wife has an inner strength that comes in part from having grown up poor. When she was young her family had to sell their home, and many days there was no meat on the table. The worst part was the certainty that the next day would bring the same misfortune. She postponed badly needed dental treatments, and she started working in her late teens to help balance the family budget. She attended college at night while working full time.
Living on the edge of survival has prepared her to accept a lot of adversity – especially my positive test for HD – with great determination. Knowing that I will lose a good part of my income after I become disabled, she works full-time so that we can try to pay off our mortgage earlier and increase our savings. She knows that she will not be able to take early retirement and will have to see our daughter through college.
Every week she cooks a menu of healthy meals for me, and she takes on the burden of extra housework and childcare when I become immersed in writing for this blog or working as an activist for the Huntington’s Disease Society of America (www.hdsa.org). Every weekend she observes me as I perform cognitive tests on the Huntington’s Disease Drug Works computer program (www.hddrugworks.org). Every year we plan together how we will donate money for HD research. Whenever she hears or reads a report about breakthroughs in neurological research, she immediately notifies me.
Right after our marriage started, our lives had taken a turn for the better. We were both establishing ourselves in our careers, and we had many exciting plans for the future.
But my wife has had to postpone or simply erase from her mind the hope that we will achieve many of those goals, for example, having a larger family. Our daughter tested negative for HD in the womb. My wife has badly wanted another child, but going through the trauma of testing another child or the expense and challenges of preimplantation genetic diagnosis (testing embryos for the disease) led us to cut off that possibility forever.
My wife has given up a lot of other dreams, like buying a summer home or moving to a less expensive city. We need to invest in her future here, because this is where she has job security and a salary that probably could not be matched elsewhere.
Worry: a constant companion
More than anything else, HD has robbed my wife of the chance to live peacefully. After so many years of struggle, she now faces the biggest challenges of her life. Worry is her constant companion. Once my symptoms commence, how will she continue to work full-time, manage the household, raise a daughter, handle all of the other tasks that I have taken care of over the years such as our financial paperwork and house repairs – and care for me? How will she and I decide when it is time for me to enter a nursing home?
As my wife said after reading a draft of this article, the worst thing about HD is its timing. It hits people in the prime of life, and it robs victims of their abilities to walk, talk, eat, and think over a period of 15 to 20 years. That is a very long time for both me and my family to endure.
We don’t talk much about Huntington’s disease these days. But HD is always looming in the shadows of our life. We should talk more about it, but we don’t. We’re trying to enjoy our lives and our daughter as much as possible before the pain begins.
Deep inside, I know my wife will prevail. She is always at my side, and she will remain there as long as possible. She’ll get by somehow. But it will be lonely and arduous, because she faces losing her closest companion and her daughter’s devoted father.
A recent e-mail from one of my readers painfully reminded me of this reality. He agreed to let me discuss his situation but wants to remain anonymous. I’ll call him Ed.
A love story
Several years ago Ed fell in love with a woman whose mother died of HD. However, the pressures of living with her at-risk status led them to argue frequently. Ed feared that his girlfriend might someday test positive for HD. Their relationship soon fell apart. She did not believe that Ed could really love her, and Ed found it difficult to manage the huge uncertainty of a life with an at-risk person.
Recently they bumped into each other and had their first serious conversation in two years. Still untested for the disease, Ed’s friend had gone on with her life and achieved many of her goals. “She seemed really happy,” Ed wrote. “I tell you all this, Gene, because I want you to understand that she does captivate me and, if I am being honest, my life over the past two years has been boring without her.”
Ed’s friend hinted that she wanted more than friendship. Ed again became scared. “My greatest fear is that one day the woman I love will be transformed and will be unrecognizable,” he wrote. “I don’t know if I can commit to this life. More importantly, I cannot let her down again.”
Ed’s predicament is one shared by all couples in the HD community – intense love challenged each and every day by the harsh reality of a fatal brain disease. “I just feel muted by the situation,” Ed confided to me. “I can’t share my fears with the person that I want to. If we can’t discuss the situation and our fears, those fears will fester and prove insurmountable, even in the short term.”
Just today I received another message from Ed stating that they had once again broken up.
A special person
There are no easy answers for Ed or anybody else in a similar quandary. Many people break off a relationship when they learn that the other person could get Huntington’s disease, and some marriages end in divorce when the at-risk person becomes ill. Caring for a person with HD becomes an ever more trying and time-consuming process. Sometimes the stress severely debilitates or even kills the caregiver first.
Only a very special person can successfully navigate through the treacherous swamp of uncertainty presented by HD. That special quality includes more than love and commitment. It requires the ability to plan each day for the worst but to maintain eternal optimism about the hope for a treatment, a cure, or simply a delay of the disease’s onset.
I am thankful every moment that my wife is that person. We had been married for only three years when HD intruded on our lives. We did not yet have a child, so it would have been very easy for my wife to ask for a divorce. But I don’t think the thought ever crossed her mind. Somehow we knew we were together for life, and she remained loyal. For her the biggest challenge was not about deciding whether to stay with me, but learning how to adapt to a new reality and to make life as normal as possible in a highly abnormal and difficult situation.
Inner strength
My wife has an inner strength that comes in part from having grown up poor. When she was young her family had to sell their home, and many days there was no meat on the table. The worst part was the certainty that the next day would bring the same misfortune. She postponed badly needed dental treatments, and she started working in her late teens to help balance the family budget. She attended college at night while working full time.
Living on the edge of survival has prepared her to accept a lot of adversity – especially my positive test for HD – with great determination. Knowing that I will lose a good part of my income after I become disabled, she works full-time so that we can try to pay off our mortgage earlier and increase our savings. She knows that she will not be able to take early retirement and will have to see our daughter through college.
Every week she cooks a menu of healthy meals for me, and she takes on the burden of extra housework and childcare when I become immersed in writing for this blog or working as an activist for the Huntington’s Disease Society of America (www.hdsa.org). Every weekend she observes me as I perform cognitive tests on the Huntington’s Disease Drug Works computer program (www.hddrugworks.org). Every year we plan together how we will donate money for HD research. Whenever she hears or reads a report about breakthroughs in neurological research, she immediately notifies me.
Right after our marriage started, our lives had taken a turn for the better. We were both establishing ourselves in our careers, and we had many exciting plans for the future.
But my wife has had to postpone or simply erase from her mind the hope that we will achieve many of those goals, for example, having a larger family. Our daughter tested negative for HD in the womb. My wife has badly wanted another child, but going through the trauma of testing another child or the expense and challenges of preimplantation genetic diagnosis (testing embryos for the disease) led us to cut off that possibility forever.
My wife has given up a lot of other dreams, like buying a summer home or moving to a less expensive city. We need to invest in her future here, because this is where she has job security and a salary that probably could not be matched elsewhere.
Worry: a constant companion
More than anything else, HD has robbed my wife of the chance to live peacefully. After so many years of struggle, she now faces the biggest challenges of her life. Worry is her constant companion. Once my symptoms commence, how will she continue to work full-time, manage the household, raise a daughter, handle all of the other tasks that I have taken care of over the years such as our financial paperwork and house repairs – and care for me? How will she and I decide when it is time for me to enter a nursing home?
As my wife said after reading a draft of this article, the worst thing about HD is its timing. It hits people in the prime of life, and it robs victims of their abilities to walk, talk, eat, and think over a period of 15 to 20 years. That is a very long time for both me and my family to endure.
We don’t talk much about Huntington’s disease these days. But HD is always looming in the shadows of our life. We should talk more about it, but we don’t. We’re trying to enjoy our lives and our daughter as much as possible before the pain begins.
Deep inside, I know my wife will prevail. She is always at my side, and she will remain there as long as possible. She’ll get by somehow. But it will be lonely and arduous, because she faces losing her closest companion and her daughter’s devoted father.
Saturday, February 17, 2007
Coming together
It’s been a year since my mother died of Huntington’s disease, on February 13, 2006. The call from my sister about her death came in the middle of the night, and two days later my wife, daughter, and I flew to my hometown, some 2,500 miles away, for the wake and funeral.
My mother’s death was not a surprise, because HD had caused her to decline rapidly in those final months. However, after her placement in a nursing home in August of 2005, we all had expected her to live at least two or three years more.
It took me nine months, until last October, to resume this blog (see “Mourning Mom”). Seeing my mother in a casket and facing my own situation as gene-positive for HD, I became emotionally paralyzed. Slowly, I have reengaged with my writing on HD.
A father’s visit
Now is an especially poignant moment. My father is out for a three-week visit. It’s good to have him here, and it’s good for him to be here. But his presence also conjures up difficult moments.
My father talks about my mom every day. Nights alone are especially difficult for him. My dad never cried when I was a child, but now he breaks down every night. Any 79-year-old man would suffer greatly and be frightened after losing a wife of 48 years. But it’s especially hard for my dad because, for 15 years, HD had slowly but steadily caused her to deteriorate mentally and physically. For both of them retired life became a trial to be endured rather than a golden moment to be enjoyed. Instead of taking my mom on a long-planned trip to Europe, he had to start preparing for her death.
My dad likes to talk about how he “robbed the cradle” by marrying a woman ten years younger. “I never thought that she would die first,” he says. She was just 68. I said to him, “You took care of mom for ten years. That’s something few people could have done. How did you do it?” His answer: “Love!”
My dad, a very religious man, feels guilty about having placed her in a nursing home. He really had little choice, because she was falling frequently and had twice injured herself seriously – a broken wrist and a gash on the head that required surgical staples.
I think my mother declined so fast because, despite the breakdown of her cognitive abilities and her inability to speak, she knew she was no longer at home and no longer had the constant support of her spouse. Eating became increasingly difficult for her; that might have been her way of saying goodbye. I try to comfort my dad by reminding him that he took care of her very well for a long time and that he was no longer able to do so.
Bringing us closer
A week before the anniversary, my dad came into my home office sobbing. He immediately picked up the picture of him and my mom that I have sitting on a bookcase. He kissed my mother’s picture and then caressed it. “I do this every night before I go to bed,” he said. “I have the same picture of your mother at home. I pray for your mother every night. And I talk to her.”
I went over to my dad and hugged him. He seemed so small, frail, and vulnerable. This stoical man, a Depression kid who had never been close to his own immigrant father, had a similar distant relationship with me, but now he was reaching out for help. It had taken him many years to hug me when I was a young adult, and even then his hugs were always quick and tentative, ending in a little push away.
But on this night he held on for a long time and caressed my back, crying the whole time. It was the closest I had ever felt to him.
To encourage himself, my dad remembers that he still has me and my sister. “It was because of your mother that I have you,” he says. We are now his lifeline, his final hope.
On February 14, the start of our second year without my mother, I drove him and my daughter to a special place at the ocean that he and my mom had savored twenty years ago, a time when none of us had even heard of Huntington’s disease, let alone imagined the stress and tears it would bring for the whole family. We couldn’t visit my mother’s grave, so my daughter and I threw flowers over a cliff as a way of honoring her. As my dad and I remembered the good memories he and my mother had of this place, he became choked with emotion. Then for a good while we simply enjoyed watching my daughter play on the beach and become fascinated with a sand crab.
The future looms
After one of our meals last week, my dad saw me taking the supplements I hope will delay the onset of my own HD. He has known about my own positive test for HD ever since I had it done in 1999, but he seemed always to go into denial about it and showed no concern, perhaps because he had his own huge burden to carry in watching my mother succumb to HD.
On that night, however, he asked again why I was taking the supplements. I told him that I did not want to become like my mother. (I also reminded him that his granddaughter, 6, is HD-free because we had her tested in the womb.) For the first time he became upset, realizing that I too could die from HD.
HD, in its strange way, has brought my father and me together. Now my goal, as I do my small part along with other HD activists around the world, is to make sure that it never separates me from my own wife and daughter.
My mother’s death was not a surprise, because HD had caused her to decline rapidly in those final months. However, after her placement in a nursing home in August of 2005, we all had expected her to live at least two or three years more.
It took me nine months, until last October, to resume this blog (see “Mourning Mom”). Seeing my mother in a casket and facing my own situation as gene-positive for HD, I became emotionally paralyzed. Slowly, I have reengaged with my writing on HD.
A father’s visit
Now is an especially poignant moment. My father is out for a three-week visit. It’s good to have him here, and it’s good for him to be here. But his presence also conjures up difficult moments.
My father talks about my mom every day. Nights alone are especially difficult for him. My dad never cried when I was a child, but now he breaks down every night. Any 79-year-old man would suffer greatly and be frightened after losing a wife of 48 years. But it’s especially hard for my dad because, for 15 years, HD had slowly but steadily caused her to deteriorate mentally and physically. For both of them retired life became a trial to be endured rather than a golden moment to be enjoyed. Instead of taking my mom on a long-planned trip to Europe, he had to start preparing for her death.
My dad likes to talk about how he “robbed the cradle” by marrying a woman ten years younger. “I never thought that she would die first,” he says. She was just 68. I said to him, “You took care of mom for ten years. That’s something few people could have done. How did you do it?” His answer: “Love!”
My dad, a very religious man, feels guilty about having placed her in a nursing home. He really had little choice, because she was falling frequently and had twice injured herself seriously – a broken wrist and a gash on the head that required surgical staples.
I think my mother declined so fast because, despite the breakdown of her cognitive abilities and her inability to speak, she knew she was no longer at home and no longer had the constant support of her spouse. Eating became increasingly difficult for her; that might have been her way of saying goodbye. I try to comfort my dad by reminding him that he took care of her very well for a long time and that he was no longer able to do so.
Bringing us closer
A week before the anniversary, my dad came into my home office sobbing. He immediately picked up the picture of him and my mom that I have sitting on a bookcase. He kissed my mother’s picture and then caressed it. “I do this every night before I go to bed,” he said. “I have the same picture of your mother at home. I pray for your mother every night. And I talk to her.”
I went over to my dad and hugged him. He seemed so small, frail, and vulnerable. This stoical man, a Depression kid who had never been close to his own immigrant father, had a similar distant relationship with me, but now he was reaching out for help. It had taken him many years to hug me when I was a young adult, and even then his hugs were always quick and tentative, ending in a little push away.
But on this night he held on for a long time and caressed my back, crying the whole time. It was the closest I had ever felt to him.
To encourage himself, my dad remembers that he still has me and my sister. “It was because of your mother that I have you,” he says. We are now his lifeline, his final hope.
On February 14, the start of our second year without my mother, I drove him and my daughter to a special place at the ocean that he and my mom had savored twenty years ago, a time when none of us had even heard of Huntington’s disease, let alone imagined the stress and tears it would bring for the whole family. We couldn’t visit my mother’s grave, so my daughter and I threw flowers over a cliff as a way of honoring her. As my dad and I remembered the good memories he and my mother had of this place, he became choked with emotion. Then for a good while we simply enjoyed watching my daughter play on the beach and become fascinated with a sand crab.
The future looms
After one of our meals last week, my dad saw me taking the supplements I hope will delay the onset of my own HD. He has known about my own positive test for HD ever since I had it done in 1999, but he seemed always to go into denial about it and showed no concern, perhaps because he had his own huge burden to carry in watching my mother succumb to HD.
On that night, however, he asked again why I was taking the supplements. I told him that I did not want to become like my mother. (I also reminded him that his granddaughter, 6, is HD-free because we had her tested in the womb.) For the first time he became upset, realizing that I too could die from HD.
HD, in its strange way, has brought my father and me together. Now my goal, as I do my small part along with other HD activists around the world, is to make sure that it never separates me from my own wife and daughter.
Sunday, November 19, 2006
Handling the news
Angela F., author of the blog A Survivor’s Guide to Huntington’s Disease?, learned on November 8 that she had tested positive for the genetic defect that causes Huntington’s disease. She asked me: “I am curious about how you coped when you got your results. How did you pull yourself back together to get on with life again?” Angela was especially upset – as I was – that her geneticist had told her she could do “nothing” to avoid the onset of HD.
I had to face the news of Huntington’s disease tests three times in just a little more than four years.
First, on the day after Christmas in 1995, I learned the explanation for my mother’s decline: a positive test for HD. (Ever since then, the holidays bring the stark reminder of how the threat of this disease has penetrated into every part of our lives and all of our discussions about the future.) The news came as a complete shock – especially because I learned that I had a 50-50 chance of inheriting HD.
Like many people, I had no knowledge of Huntington’s disease. I immediately called my mother’s geneticist back in my hometown to get more information.
Considering the news
I told him that I wanted to get tested immediately. But he cautioned me to take my time and to consider all of the consequences, including the danger of being denied insurance coverage. I contacted the head of the local chapter of the Huntington’s Disease Society of America (HDSA), a woman whose mother also had HD. She further counseled against a rash decision about the test. I began researching HD, especially the news of potential treatments, and I attended the next HDSA support group meeting, where I met other people at risk and, for the first time in my life, saw a group of individuals severely affected by the disease.
For the next three and a half years, I attended as many support group meetings as possible. I heard one scientist give a presentation on coenzyme Q-10, a supplement thought to be potentially effective against HD, and I started taking it. I listened to at-risk people tell of their wrenching decisions to test or not to test. I volunteered for the local chapter of HDSA, helping at fundraising events and dedicating increasing amounts of time to other activities.
This was my rational side in action. It was my way of fighting back and answering that inner voice that kept telling me, “You must do something!”
Emotions take over
However, as much as I unconsciously tried to cover them up, my emotions began to take over. A complex mixture of overwhelming fear and powerful denial regulated my life in the first few years after learning about HD.
On the one hand, I felt my life changing forever because of the possible onslaught of dementia and chorea, the shaking movements of HD. One night not long after the news about my mother, my wife and I lay in bed discussing HD. She held me tighter than ever before.
On the other hand, I became reckless in my pursuit of professional success and pleasure. Over a year, I took a big professional risk by focusing on a project that would bring me more immediate satisfaction and a shot at glory. That project kept me from confronting HD more seriously. I devoted very little time and effort to other parts of my life, including my relationship with my wife. My passion for life ran wild, but often in the wrong direction. Instead of solidifying what was most important in my life, I tried to escape into dreams of grandiosity. Because HD loomed as a specter in my life, I wanted to pack in as many experiences as I could before falling ill.
Throughout this period I put the question of testing for HD in the background. At the HDSA support group and from my readings, I learned that ignorance could be bliss. Living without the knowledge of my status was better than having to face the rest of my life knowing that I would die a long and horrible death caused by HD. I preferred not to play the 50-50 odds that I might have the genetic defect. After all, there was no cure or treatment for HD, so why suffer beforehand?
Facing the inevitable
I probably would have remained untested if it were not for the growing pressure from my wife to have a baby. Because of our careers we had not seriously talked of children in the early years of our marriage. But in 1998 and 1999, after the new stresses of my at-risk status had complicated our relationship and further caused us to delay having children, she gave me an ultimatum: have a child or end the marriage.
Agreeing to have a child was like a cold shower of reality. My at-risk status meant that our child could inherit HD from me. We absolutely wanted to avoid this, because we did not think we could withstand the pain of raising a child at risk for this horrible disease.
It was an especially gruesome possibility because of a particular twist in the genetics of HD: in the process of conception a man, unlike a woman, can pass on a worse version of the genetic defect to the child than he himself has.
Because of this, in some HD families the children actually get the disease much earlier than the age of onset of their fathers. My wife stated unequivocally that she did not want to care for both a husband and a child stricken with Huntington’s disease.
Wanting to conceive
We began to steel ourselves for the possibilities. One was preimplantation genetic diagnosis (PGD), a new procedure in which an embryo is tested for HD in a test tube and is then implanted in the womb. PGD would have allowed us to have a baby without HD and, if I wished, I could avoid knowing whether I actually had the defect.
However, to obtain PGD we would have had to spend many weeks in distant Washington, D.C. and far more money than we could afford: $100,000. (PGD has since dropped to about one-tenth of that cost and is now available in other parts of the country.) PGD was out of the question, and there was no guarantee the embryo would develop successfully.
Another option involved testing the fetus in the womb. If the baby did not have HD, I could still continue with the ignorance of my own status. However, if it did have HD, I would know for sure that I too would get the disease.
The third option was logistically the simplest and cheapest, but emotionally the hardest: I could get the test before we checked the fetus. If I tested negative, we could forget about Huntington’s ever affecting our own family. However, if I tested positive, we would immediately have to deal with my results and prepare to test the fetus in the womb.
A tough choice
I decided on the third option. I was 39 and felt life passing quickly, and if I were ever to become a father, it would be then and with my wife. I also tapped into a reserve of bravery and stoicism that I inherited from my father. (He ultimately cared for my mother every day for more than ten years before she died on February 13 of this year.) And so I began preparing for the news of a second Huntington’s disease test.
It was the spring of 1999. A sense of calm and resoluteness overtook me. Most people go through counseling and a specific protocol for getting tested, but I skipped parts of this process. I had my own very effective therapist and, with my experience at the HDSA chapter support group, was already familiar with the issues involved in testing.
We also had a very intelligent, level-headed, experienced, and compassionate geneticist who carefully explained all of the details of the testing process and patiently answered all of our questions. Looking back on it, I think I handled quite well the weeks preceding my test results.
Gathering for the results
The day of the results began like any other, but as we approached the hour its momentousness weighed like a millstone around our necks. My wife, who was my official support person, and I drove to the office where we were to receive the results. We tried to keep an upbeat attitude until the very last minute. She and I sat together on one side of the table, holding hands on the table, while the geneticist and a counselor sat on the other side. My wife was convinced that I would test negative. One of my best friends thought so too. We were looking forward to a celebration and getting on with our lives.
The geneticist this day was very businesslike, objective, and maybe even detached. His job could be very unpleasant, this revealing of a person’s future in few sentences, as if he were reading someone’s palm or tarot cards. He needed to be professional and to maintain a respectful distance. He stated that we were gathered to receive the results of my test. Without pause he began to read the results rather quickly and without hint as to what the results would be.
In Huntington’s disease everything hinges on the number of CAG repeats that a person has on the gene called huntingtin. (CAG repeats refer to the sequence of three nucleotide bases – cytosine, adenine, and guanine, building blocks of DNA – on the DNA molecule.) Everybody has this gene, but it usually has only 20 or fewer CAG repeats. My mother had twice as many, and that is what caused her to start having symptoms of HD in her late forties.
When the geneticist read the results for the first allele (an alternate form of a gene, for example, alleles for eye color, hair color, etc.), which came from my father, it was in the normal range. I gained a great sense of expectation, and I could sense that my wife was beginning to let out a sigh of relief.
All we needed to hear was the number “20” one more time.
The reading for the second allele, which came from my mother, was …
…
40.
Everything changes
40. It is a number stamped in our memories and in every cell of my body, slowly but surely wreaking havoc in my brain cells and leading to the moment when I will become like my mother.
40. It’s part of the primer we give to people unfamiliar with HD.
40. It’s like a code for everything my wife and I have discussed and suffered over the past eleven years of dealing with HD.
40. Would the child we wanted also have to live with this number, or, because I was a man, an even higher one?
40. I was almost at that age, the prime of a typical adulthood, but mine was not to be that.
After hearing the results, we were speechless and suddenly drained of energy. It reminds me of the day my childhood best friend died in a car accident just days before his high school graduation. I collapsed in a chair and cried.
On that day in 1999, we were clearly shaken. I am a very careful driver, but as I pulled our new car out of the space in the parking garage, I unintentionally scraped the right front fender against a column. My wife became scared. We had just learned that I could die of a debilitating brain disease, and here, out of fear and anxiety, I was already acting erratically.
But we did not cry. We remained determined to move ahead with our lives and our plans to start a family.
Moving forward
The geneticist had helped a lot by leaving us with words he would repeat on other occasions: “a positive test is not a diagnosis for the disease.” I was gene-positive, but I did not yet have any noticeable symptoms. That phrase has often given me hope in moments of fear.
For the next few weeks we solemnly went on with our lives. Like a shaman trying to preserve the life of a patient, my wife filmed me as I spoke about the test results, my fears, and my hopes for the future.
My positive result required us to think about a third HD test. My wife was already pregnant, so we began to make plans for testing the fetus in the womb. In July, however, she had a miscarriage. It was a devastating experience, especially for her, but I have always looked back on it as possibly a fortunate one, because I suspect that baby was positive for HD.
By October of 1999 my wife was pregnant again. We met with the geneticist once again to map out a strategy for testing the fetus.
It was a very complex affair. For fear of losing health coverage in the future or jeopardizing the purchase of other types of insurance, we had not mentioned HD to representatives of my health plan.
A tragic irony
This is one of the great and tragic ironies of living at risk for a devastating brain disease. The insurance one pays for often cannot be used because of the deep fear and very real possibility of suffering discrimination.
Our geneticist worked with the local Huntington’s disease clinic but not our health plan. My HD test was done anonymously at that clinic. But the HD clinic could not conduct the amniocentesis necessary for drawing the genetic material to be used for testing our baby for HD. Luckily, two things worked in our favor. The geneticist had a contact at the health plan, and that person arranged for my wife to have a standard amniocentesis done to check for Down’s syndrome. The lab that tested for this happened to be the same lab where the geneticist worked and tested genetic material for HD, so when the sample came over for Down’s syndrome screening, the geneticist also prepared to test it for HD. The health plan would get the Down’s syndrome results, which were negative, but only we and the geneticist would learn the results of the HD test.
Working around the health bureaucracy was a harrowing experience, but nearly as much as what we now faced. My wife was already sixteen weeks into the pregnancy when the amniocentesis was performed. The HD test, however, would take place only several weeks later, after the lab had been able to grow the genetic material sufficiently so that a reading for Huntington’s disease could be obtained. The results would come when the pregnancy was already nearing the fifth month.
Facing abortion
And what would we do if our little daughter-to-be were positive?
My wife and I had started debating this question even before I received my test results. During the pregnancy it paralyzed her emotionally, because she could not fully commit to a baby whom we might abort because of a positive test for HD. Every night as I put my hand on my wife’s stomach and talked with her about the new life growing inside of her, a wave of fear and uncertainty overtook us.
We are both Catholic and do not like abortion, but we also believe in a family’s right to choose. My wife insisted again that she did not want to take care of two HD patients. If the baby tested positive, she wanted to have an abortion. I understood her concerns but wanted us to await the results first.
My result of 40 CAG repeats once again impinged on our lives. I argued that if the baby had 40 repeats like me, we should go ahead with the pregnancy. Why should we deny life to a child who would probably live as long as I had, then 39, without symptoms? Surely, I argued, treatments or even a cure would be found by the time she grew up.
But my 40 could become our daughter’s 41 or more. With each additional repeat, the likelihood of an earlier onset and a harsher version of the disease increased. For weeks we debated what number would become our maximum tolerance of risk. I would accept anything in the low forties, which was the likely outcome. But my wife kept worrying about the doubt that would exist about our daughter’s health.
The horrifying thoughts of the abortion itself traumatized us more than anything else. The middle of the second trimester was awfully close to viability. My wife would have to undergo an operation and spend at least one night in the hospital. We knew this experience would scar us for the rest of our lives, and maybe for eternity.
Living with uncertainty
We continued our lives as best we could, but HD once again dampened our holiday spirit. Each night my wife and I held hands in bed, and I kept my other hand over her growing belly. Very soon we expected the baby to start kicking.
To get my results we had traveled to the HD clinic. This time we wanted to be alone at home, so the geneticist agreed to call us on the phone with the results.
He called on the evening of January 28, 2000. I got on the phone in one room, and my wife got on the extension in the other room. This time I noticed his voice was more upbeat, offering a sense of anticipation.
“Your child has tested negative,” he said.
I thanked him more enthusiastically then I had ever thanked anybody before.
It is no wonder that each year we send him a family Christmas card.
As soon as we got off the phone, my wife and I fell into each other’s arms on the couch and cried with relief. Aside from the day of our daughter’s birth, it was the happiest moment of our lives.
She became our “miracle baby.” I would someday fall victim to HD, but she would not, forever wiping HD’s horrible legacy from our family tree. Now each day, as I watch her grow, I delight in my daughter. If I ever think about her and HD in the same context, it is not about her suffering, but about her seeing me become like her grandma.
Maintaining a positive attitude
To answer Angela F.’s question, there’s a lot we have done to pull our lives back together after Huntington’s disease entered the picture, and the stories I’ve related are just a part of it.
It is not true that there is nothing to be done. Every moment is a challenge. Big decisions are frequent. Along the way we have taken control over our lives as much as possible. HD is there, but at least we know our enemy and can try to fight it through activism, research, and maintaining a positive attitude.
I had to face the news of Huntington’s disease tests three times in just a little more than four years.
First, on the day after Christmas in 1995, I learned the explanation for my mother’s decline: a positive test for HD. (Ever since then, the holidays bring the stark reminder of how the threat of this disease has penetrated into every part of our lives and all of our discussions about the future.) The news came as a complete shock – especially because I learned that I had a 50-50 chance of inheriting HD.
Like many people, I had no knowledge of Huntington’s disease. I immediately called my mother’s geneticist back in my hometown to get more information.
Considering the news
I told him that I wanted to get tested immediately. But he cautioned me to take my time and to consider all of the consequences, including the danger of being denied insurance coverage. I contacted the head of the local chapter of the Huntington’s Disease Society of America (HDSA), a woman whose mother also had HD. She further counseled against a rash decision about the test. I began researching HD, especially the news of potential treatments, and I attended the next HDSA support group meeting, where I met other people at risk and, for the first time in my life, saw a group of individuals severely affected by the disease.
For the next three and a half years, I attended as many support group meetings as possible. I heard one scientist give a presentation on coenzyme Q-10, a supplement thought to be potentially effective against HD, and I started taking it. I listened to at-risk people tell of their wrenching decisions to test or not to test. I volunteered for the local chapter of HDSA, helping at fundraising events and dedicating increasing amounts of time to other activities.
This was my rational side in action. It was my way of fighting back and answering that inner voice that kept telling me, “You must do something!”
Emotions take over
However, as much as I unconsciously tried to cover them up, my emotions began to take over. A complex mixture of overwhelming fear and powerful denial regulated my life in the first few years after learning about HD.
On the one hand, I felt my life changing forever because of the possible onslaught of dementia and chorea, the shaking movements of HD. One night not long after the news about my mother, my wife and I lay in bed discussing HD. She held me tighter than ever before.
On the other hand, I became reckless in my pursuit of professional success and pleasure. Over a year, I took a big professional risk by focusing on a project that would bring me more immediate satisfaction and a shot at glory. That project kept me from confronting HD more seriously. I devoted very little time and effort to other parts of my life, including my relationship with my wife. My passion for life ran wild, but often in the wrong direction. Instead of solidifying what was most important in my life, I tried to escape into dreams of grandiosity. Because HD loomed as a specter in my life, I wanted to pack in as many experiences as I could before falling ill.
Throughout this period I put the question of testing for HD in the background. At the HDSA support group and from my readings, I learned that ignorance could be bliss. Living without the knowledge of my status was better than having to face the rest of my life knowing that I would die a long and horrible death caused by HD. I preferred not to play the 50-50 odds that I might have the genetic defect. After all, there was no cure or treatment for HD, so why suffer beforehand?
Facing the inevitable
I probably would have remained untested if it were not for the growing pressure from my wife to have a baby. Because of our careers we had not seriously talked of children in the early years of our marriage. But in 1998 and 1999, after the new stresses of my at-risk status had complicated our relationship and further caused us to delay having children, she gave me an ultimatum: have a child or end the marriage.
Agreeing to have a child was like a cold shower of reality. My at-risk status meant that our child could inherit HD from me. We absolutely wanted to avoid this, because we did not think we could withstand the pain of raising a child at risk for this horrible disease.
It was an especially gruesome possibility because of a particular twist in the genetics of HD: in the process of conception a man, unlike a woman, can pass on a worse version of the genetic defect to the child than he himself has.
Because of this, in some HD families the children actually get the disease much earlier than the age of onset of their fathers. My wife stated unequivocally that she did not want to care for both a husband and a child stricken with Huntington’s disease.
Wanting to conceive
We began to steel ourselves for the possibilities. One was preimplantation genetic diagnosis (PGD), a new procedure in which an embryo is tested for HD in a test tube and is then implanted in the womb. PGD would have allowed us to have a baby without HD and, if I wished, I could avoid knowing whether I actually had the defect.
However, to obtain PGD we would have had to spend many weeks in distant Washington, D.C. and far more money than we could afford: $100,000. (PGD has since dropped to about one-tenth of that cost and is now available in other parts of the country.) PGD was out of the question, and there was no guarantee the embryo would develop successfully.
Another option involved testing the fetus in the womb. If the baby did not have HD, I could still continue with the ignorance of my own status. However, if it did have HD, I would know for sure that I too would get the disease.
The third option was logistically the simplest and cheapest, but emotionally the hardest: I could get the test before we checked the fetus. If I tested negative, we could forget about Huntington’s ever affecting our own family. However, if I tested positive, we would immediately have to deal with my results and prepare to test the fetus in the womb.
A tough choice
I decided on the third option. I was 39 and felt life passing quickly, and if I were ever to become a father, it would be then and with my wife. I also tapped into a reserve of bravery and stoicism that I inherited from my father. (He ultimately cared for my mother every day for more than ten years before she died on February 13 of this year.) And so I began preparing for the news of a second Huntington’s disease test.
It was the spring of 1999. A sense of calm and resoluteness overtook me. Most people go through counseling and a specific protocol for getting tested, but I skipped parts of this process. I had my own very effective therapist and, with my experience at the HDSA chapter support group, was already familiar with the issues involved in testing.
We also had a very intelligent, level-headed, experienced, and compassionate geneticist who carefully explained all of the details of the testing process and patiently answered all of our questions. Looking back on it, I think I handled quite well the weeks preceding my test results.
Gathering for the results
The day of the results began like any other, but as we approached the hour its momentousness weighed like a millstone around our necks. My wife, who was my official support person, and I drove to the office where we were to receive the results. We tried to keep an upbeat attitude until the very last minute. She and I sat together on one side of the table, holding hands on the table, while the geneticist and a counselor sat on the other side. My wife was convinced that I would test negative. One of my best friends thought so too. We were looking forward to a celebration and getting on with our lives.
The geneticist this day was very businesslike, objective, and maybe even detached. His job could be very unpleasant, this revealing of a person’s future in few sentences, as if he were reading someone’s palm or tarot cards. He needed to be professional and to maintain a respectful distance. He stated that we were gathered to receive the results of my test. Without pause he began to read the results rather quickly and without hint as to what the results would be.
In Huntington’s disease everything hinges on the number of CAG repeats that a person has on the gene called huntingtin. (CAG repeats refer to the sequence of three nucleotide bases – cytosine, adenine, and guanine, building blocks of DNA – on the DNA molecule.) Everybody has this gene, but it usually has only 20 or fewer CAG repeats. My mother had twice as many, and that is what caused her to start having symptoms of HD in her late forties.
When the geneticist read the results for the first allele (an alternate form of a gene, for example, alleles for eye color, hair color, etc.), which came from my father, it was in the normal range. I gained a great sense of expectation, and I could sense that my wife was beginning to let out a sigh of relief.
All we needed to hear was the number “20” one more time.
The reading for the second allele, which came from my mother, was …
…
40.
Everything changes
40. It is a number stamped in our memories and in every cell of my body, slowly but surely wreaking havoc in my brain cells and leading to the moment when I will become like my mother.
40. It’s part of the primer we give to people unfamiliar with HD.
40. It’s like a code for everything my wife and I have discussed and suffered over the past eleven years of dealing with HD.
40. Would the child we wanted also have to live with this number, or, because I was a man, an even higher one?
40. I was almost at that age, the prime of a typical adulthood, but mine was not to be that.
After hearing the results, we were speechless and suddenly drained of energy. It reminds me of the day my childhood best friend died in a car accident just days before his high school graduation. I collapsed in a chair and cried.
On that day in 1999, we were clearly shaken. I am a very careful driver, but as I pulled our new car out of the space in the parking garage, I unintentionally scraped the right front fender against a column. My wife became scared. We had just learned that I could die of a debilitating brain disease, and here, out of fear and anxiety, I was already acting erratically.
But we did not cry. We remained determined to move ahead with our lives and our plans to start a family.
Moving forward
The geneticist had helped a lot by leaving us with words he would repeat on other occasions: “a positive test is not a diagnosis for the disease.” I was gene-positive, but I did not yet have any noticeable symptoms. That phrase has often given me hope in moments of fear.
For the next few weeks we solemnly went on with our lives. Like a shaman trying to preserve the life of a patient, my wife filmed me as I spoke about the test results, my fears, and my hopes for the future.
My positive result required us to think about a third HD test. My wife was already pregnant, so we began to make plans for testing the fetus in the womb. In July, however, she had a miscarriage. It was a devastating experience, especially for her, but I have always looked back on it as possibly a fortunate one, because I suspect that baby was positive for HD.
By October of 1999 my wife was pregnant again. We met with the geneticist once again to map out a strategy for testing the fetus.
It was a very complex affair. For fear of losing health coverage in the future or jeopardizing the purchase of other types of insurance, we had not mentioned HD to representatives of my health plan.
A tragic irony
This is one of the great and tragic ironies of living at risk for a devastating brain disease. The insurance one pays for often cannot be used because of the deep fear and very real possibility of suffering discrimination.
Our geneticist worked with the local Huntington’s disease clinic but not our health plan. My HD test was done anonymously at that clinic. But the HD clinic could not conduct the amniocentesis necessary for drawing the genetic material to be used for testing our baby for HD. Luckily, two things worked in our favor. The geneticist had a contact at the health plan, and that person arranged for my wife to have a standard amniocentesis done to check for Down’s syndrome. The lab that tested for this happened to be the same lab where the geneticist worked and tested genetic material for HD, so when the sample came over for Down’s syndrome screening, the geneticist also prepared to test it for HD. The health plan would get the Down’s syndrome results, which were negative, but only we and the geneticist would learn the results of the HD test.
Working around the health bureaucracy was a harrowing experience, but nearly as much as what we now faced. My wife was already sixteen weeks into the pregnancy when the amniocentesis was performed. The HD test, however, would take place only several weeks later, after the lab had been able to grow the genetic material sufficiently so that a reading for Huntington’s disease could be obtained. The results would come when the pregnancy was already nearing the fifth month.
Facing abortion
And what would we do if our little daughter-to-be were positive?
My wife and I had started debating this question even before I received my test results. During the pregnancy it paralyzed her emotionally, because she could not fully commit to a baby whom we might abort because of a positive test for HD. Every night as I put my hand on my wife’s stomach and talked with her about the new life growing inside of her, a wave of fear and uncertainty overtook us.
We are both Catholic and do not like abortion, but we also believe in a family’s right to choose. My wife insisted again that she did not want to take care of two HD patients. If the baby tested positive, she wanted to have an abortion. I understood her concerns but wanted us to await the results first.
My result of 40 CAG repeats once again impinged on our lives. I argued that if the baby had 40 repeats like me, we should go ahead with the pregnancy. Why should we deny life to a child who would probably live as long as I had, then 39, without symptoms? Surely, I argued, treatments or even a cure would be found by the time she grew up.
But my 40 could become our daughter’s 41 or more. With each additional repeat, the likelihood of an earlier onset and a harsher version of the disease increased. For weeks we debated what number would become our maximum tolerance of risk. I would accept anything in the low forties, which was the likely outcome. But my wife kept worrying about the doubt that would exist about our daughter’s health.
The horrifying thoughts of the abortion itself traumatized us more than anything else. The middle of the second trimester was awfully close to viability. My wife would have to undergo an operation and spend at least one night in the hospital. We knew this experience would scar us for the rest of our lives, and maybe for eternity.
Living with uncertainty
We continued our lives as best we could, but HD once again dampened our holiday spirit. Each night my wife and I held hands in bed, and I kept my other hand over her growing belly. Very soon we expected the baby to start kicking.
To get my results we had traveled to the HD clinic. This time we wanted to be alone at home, so the geneticist agreed to call us on the phone with the results.
He called on the evening of January 28, 2000. I got on the phone in one room, and my wife got on the extension in the other room. This time I noticed his voice was more upbeat, offering a sense of anticipation.
“Your child has tested negative,” he said.
I thanked him more enthusiastically then I had ever thanked anybody before.
It is no wonder that each year we send him a family Christmas card.
As soon as we got off the phone, my wife and I fell into each other’s arms on the couch and cried with relief. Aside from the day of our daughter’s birth, it was the happiest moment of our lives.
She became our “miracle baby.” I would someday fall victim to HD, but she would not, forever wiping HD’s horrible legacy from our family tree. Now each day, as I watch her grow, I delight in my daughter. If I ever think about her and HD in the same context, it is not about her suffering, but about her seeing me become like her grandma.
Maintaining a positive attitude
To answer Angela F.’s question, there’s a lot we have done to pull our lives back together after Huntington’s disease entered the picture, and the stories I’ve related are just a part of it.
It is not true that there is nothing to be done. Every moment is a challenge. Big decisions are frequent. Along the way we have taken control over our lives as much as possible. HD is there, but at least we know our enemy and can try to fight it through activism, research, and maintaining a positive attitude.
Friday, October 27, 2006
Mourning mom
It has been almost nine months since I’ve written in this blog. Last March I began to write the following:
My mother died in her sleep on February 13.
So ended 15 years of struggle with Huntington’s disease.
I still cannot believe that she is dead.
But in many ways she had already died long before February 13. The dementia of HD had slowly but inexorably done away with her ability to communicate and to lead a normal life.
Seeing her in the casket at the funeral home, I could not cry. She seemed to still be with us. Only after the wake, when the time neared for the lid to be closed, did I finally break down.
In some ways my mother’s death was a relief. HD had dehumanized her. That’s why we had decided against connecting her stomach to a feeding tube. Her suffering has ended. Indeed, in death she had a look of peace on her face.
I am tired of thinking of Huntington’s disease, this threat from my genes that taunts me every day but has yet to manifest itself.
Now that Mom is gone, I am preparing myself to renew my energies for the continuing battle to find a cure.
After I wrote that – which I did not post to this site – I could not bring myself to write again. Starting around that time, and extending into May, I went into a dual spiral of anxiety and depression.
I also went into denial about my mother’s death and Huntington’s disease, especially because I had traveled home to see her just a couple weeks before her death. At the nursing home I squirmed with fear as I looked into the genetic mirror that revealed the symptoms and decay that I myself likely will experience in the not-too-distant future, because I too have tested positive for HD.
I badly needed a break from HD, and staying away from this blog has been part of that process.
Without realizing it, I began to take on the symptoms of an HD person. The littlest of tasks became like mountains to climb, and thinking about bigger responsibilities and plans terrified me. Whenever I became anxious, I started to rock back and forth on my feet or bow my head ever more quickly and ever closer to the floor. My hands fidgeted too. My wife had to keep telling me to get a hold of myself. I simply didn’t know how I was going to get through the next minute, let alone the next day, week, or month. I couldn’t enjoy anything. I rocked back and forth even when playing with my daughter, although I tried to do it only when she wasn’t looking.
I was acting out my feelings of doom. Seeing my mother in such a horrible state before her death drove home more than ever the utter destruction wrought by the disease and the inevitability of its arrival in my own body. On a deep level I was convinced that I would get this disease.
On another level I was identifying with my mother by taking on her suffering. This was my way of being close to her in death. I was her son, I had inherited her gene-positive status, and now I would be just like her.
I also felt guilty about her death. Why had I not visited her more often? Why did I often ignore her when I was in the same room with her? Could I have done more to save her? I began to ask myself these questions in the months following her death and realized that avoiding her was a way of repressing my own fears about the disease. Maybe I deserved to get HD.
And I was struggling to come to terms with death itself – not death as most people think of it, but death in one of the most excruciatingly painful ways imaginable, dragged out over many years and pronounced to oneself and to everybody else as the HD-stricken adult disintegrates into a creature more helpless than a toddler, incontinent, unable to swallow, speechless.
I don’t know how I got to the month of June without totally breaking down. Luckily, I got on some new medications for anxiety and depression. They helped enormously, and now I feel better than I have felt in years.
Denial has helped, as well. For many months after my crisis I have simply blocked out of my mind the possibility that I am gene-positive for HD. I stopped fantasizing about symptoms. I stopped worrying about when I would get sick. I tried to live in the moment as best I could.
I also started taking time out to enjoy life. In July we splurged and went on a week-long family cruise to Alaska. Seeing whales, eagles, green mountains, fjords, and glaciers calmed me and renewed my spirits. Being at one with nature made my worries and the death of my mother seem less ominous. Lately I have been thinking that my fate with HD is just another act of nature, part of the grand mystery of God and the universe.
Above all the trip was important because my dad came with us. He was crying every day about my mom. He wondered what he was going to do with his life, and he talked about how he would soon join her. Even though HD had destroyed her mind, she had been his companion. As he kept reminding me, 48 years with a person was a very long time. He’s 79.
The trip got his mind off of mom and focused on the living members of his family, especially his granddaughter. At six, she now has an understanding relationship with her grandfather. When my wife asked her if she wanted to see grandma in the casket, my daughter said yes. She stared for a long time. It was the first time she saw a dead person. She attended the funeral, laid a flower on the casket at the cemetery, and witnessed the pain of all of us. She clearly made the connection between Huntington’s disease and death. At our home and on the cruise ship she saw her grandfather without his spouse. She held his hand and in her own special way helped draw him out of himself and his suffering.
It was also a time for my father and me to bond again. We shared a room for the first time in more than twenty years. He watched me take supplements that I hope will delay the onset of HD. After so many years of focusing on my mother, for the first time he has realized that this disease can affect me too.
As fall sets in and the first holiday season without my mom approaches, we are back at the routine of life. My daughter is in first grade, and my wife and I are in full swing at work. My dad visits his doctors, goes to weekly Mass, helps the neighbors, and feeds the squirrels and birds that appear in his yard.
And we are all girding ourselves for the next battle with HD: a father wondering whether his son will follow in the footsteps of his spouse, a wife worrying about raising a child and caring at the same time for a sick husband, a daughter reassuring herself that all will be okay with her parents.
And I, taking many months to get up the courage to write again, am finally coming to grips with the death of my mother at the hands of Huntington’s disease.
My mother died in her sleep on February 13.
So ended 15 years of struggle with Huntington’s disease.
I still cannot believe that she is dead.
But in many ways she had already died long before February 13. The dementia of HD had slowly but inexorably done away with her ability to communicate and to lead a normal life.
Seeing her in the casket at the funeral home, I could not cry. She seemed to still be with us. Only after the wake, when the time neared for the lid to be closed, did I finally break down.
In some ways my mother’s death was a relief. HD had dehumanized her. That’s why we had decided against connecting her stomach to a feeding tube. Her suffering has ended. Indeed, in death she had a look of peace on her face.
I am tired of thinking of Huntington’s disease, this threat from my genes that taunts me every day but has yet to manifest itself.
Now that Mom is gone, I am preparing myself to renew my energies for the continuing battle to find a cure.
After I wrote that – which I did not post to this site – I could not bring myself to write again. Starting around that time, and extending into May, I went into a dual spiral of anxiety and depression.
I also went into denial about my mother’s death and Huntington’s disease, especially because I had traveled home to see her just a couple weeks before her death. At the nursing home I squirmed with fear as I looked into the genetic mirror that revealed the symptoms and decay that I myself likely will experience in the not-too-distant future, because I too have tested positive for HD.
I badly needed a break from HD, and staying away from this blog has been part of that process.
Without realizing it, I began to take on the symptoms of an HD person. The littlest of tasks became like mountains to climb, and thinking about bigger responsibilities and plans terrified me. Whenever I became anxious, I started to rock back and forth on my feet or bow my head ever more quickly and ever closer to the floor. My hands fidgeted too. My wife had to keep telling me to get a hold of myself. I simply didn’t know how I was going to get through the next minute, let alone the next day, week, or month. I couldn’t enjoy anything. I rocked back and forth even when playing with my daughter, although I tried to do it only when she wasn’t looking.
I was acting out my feelings of doom. Seeing my mother in such a horrible state before her death drove home more than ever the utter destruction wrought by the disease and the inevitability of its arrival in my own body. On a deep level I was convinced that I would get this disease.
On another level I was identifying with my mother by taking on her suffering. This was my way of being close to her in death. I was her son, I had inherited her gene-positive status, and now I would be just like her.
I also felt guilty about her death. Why had I not visited her more often? Why did I often ignore her when I was in the same room with her? Could I have done more to save her? I began to ask myself these questions in the months following her death and realized that avoiding her was a way of repressing my own fears about the disease. Maybe I deserved to get HD.
And I was struggling to come to terms with death itself – not death as most people think of it, but death in one of the most excruciatingly painful ways imaginable, dragged out over many years and pronounced to oneself and to everybody else as the HD-stricken adult disintegrates into a creature more helpless than a toddler, incontinent, unable to swallow, speechless.
I don’t know how I got to the month of June without totally breaking down. Luckily, I got on some new medications for anxiety and depression. They helped enormously, and now I feel better than I have felt in years.
Denial has helped, as well. For many months after my crisis I have simply blocked out of my mind the possibility that I am gene-positive for HD. I stopped fantasizing about symptoms. I stopped worrying about when I would get sick. I tried to live in the moment as best I could.
I also started taking time out to enjoy life. In July we splurged and went on a week-long family cruise to Alaska. Seeing whales, eagles, green mountains, fjords, and glaciers calmed me and renewed my spirits. Being at one with nature made my worries and the death of my mother seem less ominous. Lately I have been thinking that my fate with HD is just another act of nature, part of the grand mystery of God and the universe.
Above all the trip was important because my dad came with us. He was crying every day about my mom. He wondered what he was going to do with his life, and he talked about how he would soon join her. Even though HD had destroyed her mind, she had been his companion. As he kept reminding me, 48 years with a person was a very long time. He’s 79.
The trip got his mind off of mom and focused on the living members of his family, especially his granddaughter. At six, she now has an understanding relationship with her grandfather. When my wife asked her if she wanted to see grandma in the casket, my daughter said yes. She stared for a long time. It was the first time she saw a dead person. She attended the funeral, laid a flower on the casket at the cemetery, and witnessed the pain of all of us. She clearly made the connection between Huntington’s disease and death. At our home and on the cruise ship she saw her grandfather without his spouse. She held his hand and in her own special way helped draw him out of himself and his suffering.
It was also a time for my father and me to bond again. We shared a room for the first time in more than twenty years. He watched me take supplements that I hope will delay the onset of HD. After so many years of focusing on my mother, for the first time he has realized that this disease can affect me too.
As fall sets in and the first holiday season without my mom approaches, we are back at the routine of life. My daughter is in first grade, and my wife and I are in full swing at work. My dad visits his doctors, goes to weekly Mass, helps the neighbors, and feeds the squirrels and birds that appear in his yard.
And we are all girding ourselves for the next battle with HD: a father wondering whether his son will follow in the footsteps of his spouse, a wife worrying about raising a child and caring at the same time for a sick husband, a daughter reassuring herself that all will be okay with her parents.
And I, taking many months to get up the courage to write again, am finally coming to grips with the death of my mother at the hands of Huntington’s disease.
Wednesday, February 01, 2006
Saying good-bye to Mom
My father decided last week that he did not want my mother, who has had Huntington’s disease for about 15 years, to have a feeding tube. My sister and I reluctantly agreed. Mom can no longer swallow properly – one of the final symptoms of HD before death. She runs the risk of taking food into her lungs. My father and my sister contacted a hospice, which will assist with my mother’s care until her death, attempting to make her passing as painless and as comfortable as possible.
On Thursday night I called the nursing home where my mother is living. The nurse suggested that I visit as soon as possible, because death could come quickly. Mom has had two incidents of serious dehydration in the past couple weeks and, without a feeding tube connected to her stomach, she might not last much longer. The nurse bluntly revealed an emotional bombshell: Mom had said that she was “not afraid to die.”
I decided to travel on Friday for a weekend trip to my hometown to visit Mom for what could be the last time. I dropped everything I was doing, frantically packed, and reserved a last-minute flight. Throughout the long, emotionally-draining trip across the country I could not stop thinking about our family’s decision about the feeding tube, my Mom’s illness, and my own at-risk status.
After my father and sister picked me up at the airport and we got a quick dinner on Friday night, Dad and I drove to the nursing home. I insisted that we go, even though it was already a couple of hours past her bedtime. I had come on a mission to see Mom, and I did not want anything to prevent me from doing so. My adrenalin flowed as I braced myself for what I knew would be a depressing scene in the nursing home.
Mom was asleep when we entered the room. She lay in a simple bed with two railings to stop her from falling out. On the other side of a curtain slept another woman, a paraplegic who can only whisper her words. But, as if Mom sensed our presence, she suddenly awoke. I bent down over her in the dark and asked her if she knew who I was.
Mom did not recognize me. At first she referred to me as her “husband,” then as “Grandpa.” HD-driven dementia has clearly taken its final toll on her mind. When I saw her nearly a year ago, she had no difficulties in recognizing me. Only a couple times throughout the nearly six hours that I spent by her side over the weekend did she really seem to understand who I was.
I hugged her and kissed her and then bade her good night, as we would be returning to see her again the next day.
That night I dreamt nervously of visiting Mom and walking through the somber halls of the nursing home.
On Saturday we arrived around 12:30. Mom was sitting in the hallway in a special padded lounge chair provided by the hospice. Dad called it the “Cadillac,” because it was much nicer than the chair she had used earlier, and certainly more comfortable than a wheelchair. It had wheels, so we could roll Mom around the nursing home.
Mom again had trouble recognizing me. She just sat immobile in the chair, turning only her head and moving her legs a little from time to time.
But when I showed Mom a picture of a little girl, she immediately called out her granddaughter’s name. I felt good.
Dozens of times Mom said, “I love you,” to us, to the nursing home personnel, and to the lady who comes to fix her hair, a person who has helped care for her the past eight years. She still understood the essence of life and wanted us to know what she felt for us.
My sister, my dad, and I conversed about HD and my Mom as we contemplated her in the chair. HD people have a hard time focusing their eyesight, but Mom was able to fix her gaze to meet up with mine a number of times. I felt close to her. And I felt as if I were once again looking into a genetic mirror, seeing how I myself could end up if a treatment or cure for HD is not found soon.
That was the most unnerving aspect of the whole visit: having to see Mom in such a deteriorated situation and knowing that I carry the indelible mark of a defective huntingtin gene.
I also learned how difficult her swallowing has become. An aide brought over a glass of water with a thickening agent in it that is supposed to facilitate swallowing. My sister and I patiently helped Mom take sips from the glass. She had difficulty keeping the liquid in her mouth, so we put a towel across her chest. Over ten minutes she barely got down more than an ounce or two.
I now understood why the doctor had extended the possibility of a feeding tube, although we were also told that such a tube was no guarantee that Mom would not get food into her lungs.
Sunday would be the final day of my visit. I wanted to get to the nursing home as early as possible to be able to spend quality time with Mom.
I was very nervous and fidgety, thinking the whole time of how my life could become transformed by my genetic destiny. I kept sitting down and getting up from my chair as I looked at Mom and tried to concentrate on the conversation going on around me.
Mom’s caregiver friend washed, cut, and curled her hair to make her presentable for her visitors.
During the hairdo, an aide came into feed Mom. Because of her inadequate swallowing, she is now getting only “pleasure foods” that ostensibly go down easier. On the tray were a small bowl of mashed potatoes with gravy, some pureed apple pie, a small glass of milk, and a glass of water. Again both liquids contained a thickening agent.
Her swallowing difficulties became even more apparent. The aide had to tell Mom to get ready for each spoonful, then quickly stick it into her mouth, and then massage her throat to help her with swallowing. The aide also had Mom open her mouth to make sure that the food had gone down.
After 45 minutes of patient feeding Mom had eaten only about half her food. She drank most of the milk but practically none of the water.
It was no wonder that she easily became dehydrated.
We then wheeled Mom to a reception room with more comfortable furniture. There we took some pictures.
Then I asked my sister and father to leave the room briefly so that I could say my final farewell to Mom.
I told Mom that I was saying goodbye and that I might not see her again. I told her what an excellent mother she had been, and I apologized for all the times that I had not been the best of sons.
I looked her in the eyes.
I hugged and kissed her.
I put her hand on top of mine on top of the tray that was part of her special chair.
I told her I loved her. She said she loved me too.
In the past couple days Mom had not moved her hands at all. When we asked her to point out things, she had been unresponsive. But then, inexplicably, Mom started to move her left hand upwards. Slowly it moved until it touched my face.
I took her hand and pressed it against my face.
Miraculously we had touched each other’s hearts.
I felt a warm glow of love and relief.
Now, back home, I have nagging feelings about the feeding tube. Are we doing the right thing? Mom could be gone in a flash, whereas the tube might give her months or even years more. The problem is that it is all unpredictable. I am anguished and disturbed at the thought of her dying.
But part of me has a sense of peace. It was good to become close to my mother again. For so many years the dementia prevented her from expressing her feelings, and my fear of HD kept me from sitting down with her and attempting to converse.
At least we were able to say good-bye.
On Thursday night I called the nursing home where my mother is living. The nurse suggested that I visit as soon as possible, because death could come quickly. Mom has had two incidents of serious dehydration in the past couple weeks and, without a feeding tube connected to her stomach, she might not last much longer. The nurse bluntly revealed an emotional bombshell: Mom had said that she was “not afraid to die.”
I decided to travel on Friday for a weekend trip to my hometown to visit Mom for what could be the last time. I dropped everything I was doing, frantically packed, and reserved a last-minute flight. Throughout the long, emotionally-draining trip across the country I could not stop thinking about our family’s decision about the feeding tube, my Mom’s illness, and my own at-risk status.
After my father and sister picked me up at the airport and we got a quick dinner on Friday night, Dad and I drove to the nursing home. I insisted that we go, even though it was already a couple of hours past her bedtime. I had come on a mission to see Mom, and I did not want anything to prevent me from doing so. My adrenalin flowed as I braced myself for what I knew would be a depressing scene in the nursing home.
Mom was asleep when we entered the room. She lay in a simple bed with two railings to stop her from falling out. On the other side of a curtain slept another woman, a paraplegic who can only whisper her words. But, as if Mom sensed our presence, she suddenly awoke. I bent down over her in the dark and asked her if she knew who I was.
Mom did not recognize me. At first she referred to me as her “husband,” then as “Grandpa.” HD-driven dementia has clearly taken its final toll on her mind. When I saw her nearly a year ago, she had no difficulties in recognizing me. Only a couple times throughout the nearly six hours that I spent by her side over the weekend did she really seem to understand who I was.
I hugged her and kissed her and then bade her good night, as we would be returning to see her again the next day.
That night I dreamt nervously of visiting Mom and walking through the somber halls of the nursing home.
On Saturday we arrived around 12:30. Mom was sitting in the hallway in a special padded lounge chair provided by the hospice. Dad called it the “Cadillac,” because it was much nicer than the chair she had used earlier, and certainly more comfortable than a wheelchair. It had wheels, so we could roll Mom around the nursing home.
Mom again had trouble recognizing me. She just sat immobile in the chair, turning only her head and moving her legs a little from time to time.
But when I showed Mom a picture of a little girl, she immediately called out her granddaughter’s name. I felt good.
Dozens of times Mom said, “I love you,” to us, to the nursing home personnel, and to the lady who comes to fix her hair, a person who has helped care for her the past eight years. She still understood the essence of life and wanted us to know what she felt for us.
My sister, my dad, and I conversed about HD and my Mom as we contemplated her in the chair. HD people have a hard time focusing their eyesight, but Mom was able to fix her gaze to meet up with mine a number of times. I felt close to her. And I felt as if I were once again looking into a genetic mirror, seeing how I myself could end up if a treatment or cure for HD is not found soon.
That was the most unnerving aspect of the whole visit: having to see Mom in such a deteriorated situation and knowing that I carry the indelible mark of a defective huntingtin gene.
I also learned how difficult her swallowing has become. An aide brought over a glass of water with a thickening agent in it that is supposed to facilitate swallowing. My sister and I patiently helped Mom take sips from the glass. She had difficulty keeping the liquid in her mouth, so we put a towel across her chest. Over ten minutes she barely got down more than an ounce or two.
I now understood why the doctor had extended the possibility of a feeding tube, although we were also told that such a tube was no guarantee that Mom would not get food into her lungs.
Sunday would be the final day of my visit. I wanted to get to the nursing home as early as possible to be able to spend quality time with Mom.
I was very nervous and fidgety, thinking the whole time of how my life could become transformed by my genetic destiny. I kept sitting down and getting up from my chair as I looked at Mom and tried to concentrate on the conversation going on around me.
Mom’s caregiver friend washed, cut, and curled her hair to make her presentable for her visitors.
During the hairdo, an aide came into feed Mom. Because of her inadequate swallowing, she is now getting only “pleasure foods” that ostensibly go down easier. On the tray were a small bowl of mashed potatoes with gravy, some pureed apple pie, a small glass of milk, and a glass of water. Again both liquids contained a thickening agent.
Her swallowing difficulties became even more apparent. The aide had to tell Mom to get ready for each spoonful, then quickly stick it into her mouth, and then massage her throat to help her with swallowing. The aide also had Mom open her mouth to make sure that the food had gone down.
After 45 minutes of patient feeding Mom had eaten only about half her food. She drank most of the milk but practically none of the water.
It was no wonder that she easily became dehydrated.
We then wheeled Mom to a reception room with more comfortable furniture. There we took some pictures.
Then I asked my sister and father to leave the room briefly so that I could say my final farewell to Mom.
I told Mom that I was saying goodbye and that I might not see her again. I told her what an excellent mother she had been, and I apologized for all the times that I had not been the best of sons.
I looked her in the eyes.
I hugged and kissed her.
I put her hand on top of mine on top of the tray that was part of her special chair.
I told her I loved her. She said she loved me too.
In the past couple days Mom had not moved her hands at all. When we asked her to point out things, she had been unresponsive. But then, inexplicably, Mom started to move her left hand upwards. Slowly it moved until it touched my face.
I took her hand and pressed it against my face.
Miraculously we had touched each other’s hearts.
I felt a warm glow of love and relief.
Now, back home, I have nagging feelings about the feeding tube. Are we doing the right thing? Mom could be gone in a flash, whereas the tube might give her months or even years more. The problem is that it is all unpredictable. I am anguished and disturbed at the thought of her dying.
But part of me has a sense of peace. It was good to become close to my mother again. For so many years the dementia prevented her from expressing her feelings, and my fear of HD kept me from sitting down with her and attempting to converse.
At least we were able to say good-bye.
Thursday, January 26, 2006
Should Mom get a feeding tube?
My HD-stricken mother was rushed from her nursing home to the emergency room last week because of dehydration. She spent almost a week there. The hospital staff also found a urinary tract infection.
As is typical with late-stage HD, my mother can no longer eat normally. The food gets into her windpipe, causing her to spit it out.
As I write she is on intravenous fluids because of another crisis of dehydration. She is in good spirits and still smiles when my dad and sister come to visit her.
But the nursing home people say that it’s no longer possible to feed her through her mouth. She also cannot swallow her medications, which are necessary for alleviating the symptoms of HD such as chorea, or shaking.
My dad , my sister, and I now face one of the most difficult decisions we will ever make: should Mom get a feeding tube connected to her stomach?
It may be the only way to save her life.
But it would prolong her decline into the abyss of Huntington’s disease. We don’t want a Terry Schiavo-like situation, where Mom simply vegetates.
But we recognize that, despite HD’s devastation, she maintains a part of her humanity.
Her living will says that no heroic efforts should be made to save her. But she signed that in 2000, when HD had already assaulted her with serious dementia. Did she really know what she was assenting to?
How can we possibly know her thoughts now, when she cannot hold the simplest of conversations?
“She still says constantly, ‘I love you,’” my sister told me yesterday. “How could you let that go? That’s what’s bugging me now.”
As the nurses have explained it, “You never no how long someone will live with or without a feeding tube,” my sister added. She could go on for years, or just a few months.
And once the tube is connected, will we then face an even more terrible decision of having to disconnect it?
My dad and sister are scheduled to meet with hospice workers, who will give them the pros and cons of the different scenarios.
But no matter how much information we have, this decision isn’t going to become any easier.
As is typical with late-stage HD, my mother can no longer eat normally. The food gets into her windpipe, causing her to spit it out.
As I write she is on intravenous fluids because of another crisis of dehydration. She is in good spirits and still smiles when my dad and sister come to visit her.
But the nursing home people say that it’s no longer possible to feed her through her mouth. She also cannot swallow her medications, which are necessary for alleviating the symptoms of HD such as chorea, or shaking.
My dad , my sister, and I now face one of the most difficult decisions we will ever make: should Mom get a feeding tube connected to her stomach?
It may be the only way to save her life.
But it would prolong her decline into the abyss of Huntington’s disease. We don’t want a Terry Schiavo-like situation, where Mom simply vegetates.
But we recognize that, despite HD’s devastation, she maintains a part of her humanity.
Her living will says that no heroic efforts should be made to save her. But she signed that in 2000, when HD had already assaulted her with serious dementia. Did she really know what she was assenting to?
How can we possibly know her thoughts now, when she cannot hold the simplest of conversations?
“She still says constantly, ‘I love you,’” my sister told me yesterday. “How could you let that go? That’s what’s bugging me now.”
As the nurses have explained it, “You never no how long someone will live with or without a feeding tube,” my sister added. She could go on for years, or just a few months.
And once the tube is connected, will we then face an even more terrible decision of having to disconnect it?
My dad and sister are scheduled to meet with hospice workers, who will give them the pros and cons of the different scenarios.
But no matter how much information we have, this decision isn’t going to become any easier.
Sunday, December 18, 2005
A Huntington's Christmas story: ten years of wondering
For the past ten years Christmas has come with a tinge of sadness in our family, as we remember the bad news about my mother.
It was the day after Christmas in 1995, and life seemed good. I was getting established in my career, and my wife and I were talking about starting a family. We were in our thirties and had few worries.
Then I opened a letter from my sister. “It’s a relief to finally know what Mom has,” it read.
This letter came as a surprise to me. For some time I had known something was wrong with my mother. My dad had mentioned that my mother’s legs were shaking uncontrollably at night. She and my father, who live three time zones away, had paid us a two-month visit earlier in the year. One day my mother was very depressed and angry, so I gave her a massage to try to lift her spirits. She said she felt better, but I sensed that there was more to the story than just depression or a quirk of personality. I urged my father to take her to a specialist. He did but failed to keep me fully abreast of the doctors’ reports.
I immediately called my sister. “What does Mom have?” I asked.
“You mean they didn’t tell you? Mom has Huntington’s disease.”
Huntington’s disease? I had never heard of it. I at first felt good that we finally knew what was wrong with my mother. My coaxing my dad to get her help had brought results.
Then my sister explained that Huntington’s was an inherited genetic disorder. She and I had a 50-50 chance of having it. And if we had it, our kids would face equal odds of losing their bodies and their minds.
My sister has three sons; in 1995, they were ages ten, eight, and six. What a terrible blow it must have been for her to learn that they were at risk for HD!
I rushed into the next room to tell my wife. One of the first things I said was that we might have to put off having children. We were devastated.
That same day I called one of my mother’s doctors to get further details on Huntington’s. I told him that I wanted to get tested immediately. He cautioned me not to do so, because of the risk of losing my job or not being able to get certain kinds of insurance. A person at the local chapter of the Huntington’s Disease Society of America gave me similar advice and invited me to attend the monthly support group meeting.
That fateful December 26 I felt gripped with fear as I lay in bed worrying about my mother and my own future. My wife hugged me as she had never done before.
And so began ten years of wondering.
How long will my mom hold out? She has experienced a steady decline to the point where she is now virtually helpless and living in a nursing home.
When will an effective treatment or cure be discovered? The HD gene was discovered in 1993 and literally scores of research breakthroughs have been made by some of the world’s most interesting scientists, but there is still nothing that effectively stops or controls the disease.
How and when will my own symptoms start? After living in denial for several years, I got tested in 1999 because we wanted to start a family. I am gene positive. Having this defect means that I will develop symptoms, perhaps as soon as in the next few years. As the years have gone by, I have become increasingly anxious. The worry becomes more acute at the Christmas-time anniversary. It’s also a few days before my birthday. Each year we’re reminded that time keeps ticking, and the probability of my illness increases.
Worst of all, this year Mom won’t spend Christmas at home for the first time in her 68 years. Instead my dad and my sister will celebrate with her at the nursing home.
This year there will be no gift of a treatment or cure. My dream is that I awake some December 26 to hear the news that Huntington’s disease has finally been stopped.
It was the day after Christmas in 1995, and life seemed good. I was getting established in my career, and my wife and I were talking about starting a family. We were in our thirties and had few worries.
Then I opened a letter from my sister. “It’s a relief to finally know what Mom has,” it read.
This letter came as a surprise to me. For some time I had known something was wrong with my mother. My dad had mentioned that my mother’s legs were shaking uncontrollably at night. She and my father, who live three time zones away, had paid us a two-month visit earlier in the year. One day my mother was very depressed and angry, so I gave her a massage to try to lift her spirits. She said she felt better, but I sensed that there was more to the story than just depression or a quirk of personality. I urged my father to take her to a specialist. He did but failed to keep me fully abreast of the doctors’ reports.
I immediately called my sister. “What does Mom have?” I asked.
“You mean they didn’t tell you? Mom has Huntington’s disease.”
Huntington’s disease? I had never heard of it. I at first felt good that we finally knew what was wrong with my mother. My coaxing my dad to get her help had brought results.
Then my sister explained that Huntington’s was an inherited genetic disorder. She and I had a 50-50 chance of having it. And if we had it, our kids would face equal odds of losing their bodies and their minds.
My sister has three sons; in 1995, they were ages ten, eight, and six. What a terrible blow it must have been for her to learn that they were at risk for HD!
I rushed into the next room to tell my wife. One of the first things I said was that we might have to put off having children. We were devastated.
That same day I called one of my mother’s doctors to get further details on Huntington’s. I told him that I wanted to get tested immediately. He cautioned me not to do so, because of the risk of losing my job or not being able to get certain kinds of insurance. A person at the local chapter of the Huntington’s Disease Society of America gave me similar advice and invited me to attend the monthly support group meeting.
That fateful December 26 I felt gripped with fear as I lay in bed worrying about my mother and my own future. My wife hugged me as she had never done before.
And so began ten years of wondering.
How long will my mom hold out? She has experienced a steady decline to the point where she is now virtually helpless and living in a nursing home.
When will an effective treatment or cure be discovered? The HD gene was discovered in 1993 and literally scores of research breakthroughs have been made by some of the world’s most interesting scientists, but there is still nothing that effectively stops or controls the disease.
How and when will my own symptoms start? After living in denial for several years, I got tested in 1999 because we wanted to start a family. I am gene positive. Having this defect means that I will develop symptoms, perhaps as soon as in the next few years. As the years have gone by, I have become increasingly anxious. The worry becomes more acute at the Christmas-time anniversary. It’s also a few days before my birthday. Each year we’re reminded that time keeps ticking, and the probability of my illness increases.
Worst of all, this year Mom won’t spend Christmas at home for the first time in her 68 years. Instead my dad and my sister will celebrate with her at the nursing home.
This year there will be no gift of a treatment or cure. My dream is that I awake some December 26 to hear the news that Huntington’s disease has finally been stopped.
Friday, December 02, 2005
A Thanksgiving visit: a time to reflect on HD
My dad traveled to visit for Thanksgiving, bringing the stark reality of my mother’s affliction with Huntington’s disease into our household.
I have seen my father, now 78, become tearful only a few times. But he cried when he first talked about my mother, whom he left for the first time in 47 years of marriage in order to spend ten days with us. He has been doing a lot of crying since putting my mother, 68, into a nursing home in August, he explained.
“I ask God, ‘Why our family?’” my dad said. A devout Catholic who believes in accepting God’s will, he added quickly: “I suppose I shouldn’t ask that question.”
Later I decided to ask him: “Why do you think God would choose our family?”
“Maybe he’s testing us,” my dad responded.
“That’s quite a big test he’s putting us through,” I rejoined.
I asked myself that same question – “Why us? Why must I be at risk for HD?” – over and over again during his visit. I don’t discount the possibility that in some odd way there might be divine purpose in Huntington’s disease. But mainly I believe that our creator – whatever it may be – has placed us in a universal struggle for perfection and justice. Curing HD is just one of the great challenges that humanity faces. At-risk people like me who are fighting to ward off onset and striving to support those who research treatments are front-line fighters in that great struggle. We try to set an example for others, raising awareness about genetic diseases and pointing out the need for compassion.
I also don’t discount my father’s faith. Over the past fifteen years, it has helped him care for my mother day after day and to accept her gradual but inexorable decline into the infant-like helplessness HD causes.
“You’ve shown a lot of strength,” I told him as we went out for a drive one night.
“I didn’t know how much I loved your mother until these past few years, taking care of her and seeing how much she has lost,” he said.
The transition of the last few months – Mom into the nursing home and Dad living alone for the first time– has been tough. But that same strength is there. He visits her every day for several hours, taking her favorite fruits and talking patiently with her even though she can no longer speak.
For the first time since August, he and I talked to her together on the phone, because at my house we have two extensions. I have sorely missed these three-way conversations in which my dad and I did all the talking and my mom simply listened. Whenever I call her at the nursing home, I am at a terrible loss for words. I usually speak for just four or five minutes, telling her about her five-year-old granddaughter and other things in our life.
“Whenever I arrive at the nursing home, her face just lights up in a big smile,” my dad said many times during his visit. “That makes me feel so good.” He added, “I know I made the right decision putting her in the home. I know she’s happy there.”
One of the hardest parts of my dad’s visit was seeing him so frail. Seeing the man I might become has made me think a lot about my own mortality.
But I fear most my mother’s fate, because I, too, am gene positive for HD. More difficult than seeing Dad was looking at pictures he had taken of my mother at the nursing home. These were the first photographs I’d seen of her since the move. My dad pays a woman to do Mom’s nails and set her hair, but he still needs to coach the nursing home staff on how to use a shower cap to keep her hair nice. It was hard knowing that she can’t receive the same loving care that my father provided (but can no longer provide). There were also photos of her in a wheelchair and with the grimace HD people typically express.
My dad left me some of the pictures. My wife, my daughter, and I looked at them very briefly. My wife and I didn’t say anything, and we quickly put them away. I’ll let them sit a few days until I can collect my thoughts about the flood of emotions that came with my dad’s visit.
When I get the courage to look at them again, I think I’ll take out my favorite picture, the one in which Mom has that big smile that Dad likes to describe. Despite all that HD has done to her, it reminds me that she is still alive and human!
I think I’ll frame that picture.
I have seen my father, now 78, become tearful only a few times. But he cried when he first talked about my mother, whom he left for the first time in 47 years of marriage in order to spend ten days with us. He has been doing a lot of crying since putting my mother, 68, into a nursing home in August, he explained.
“I ask God, ‘Why our family?’” my dad said. A devout Catholic who believes in accepting God’s will, he added quickly: “I suppose I shouldn’t ask that question.”
Later I decided to ask him: “Why do you think God would choose our family?”
“Maybe he’s testing us,” my dad responded.
“That’s quite a big test he’s putting us through,” I rejoined.
I asked myself that same question – “Why us? Why must I be at risk for HD?” – over and over again during his visit. I don’t discount the possibility that in some odd way there might be divine purpose in Huntington’s disease. But mainly I believe that our creator – whatever it may be – has placed us in a universal struggle for perfection and justice. Curing HD is just one of the great challenges that humanity faces. At-risk people like me who are fighting to ward off onset and striving to support those who research treatments are front-line fighters in that great struggle. We try to set an example for others, raising awareness about genetic diseases and pointing out the need for compassion.
I also don’t discount my father’s faith. Over the past fifteen years, it has helped him care for my mother day after day and to accept her gradual but inexorable decline into the infant-like helplessness HD causes.
“You’ve shown a lot of strength,” I told him as we went out for a drive one night.
“I didn’t know how much I loved your mother until these past few years, taking care of her and seeing how much she has lost,” he said.
The transition of the last few months – Mom into the nursing home and Dad living alone for the first time– has been tough. But that same strength is there. He visits her every day for several hours, taking her favorite fruits and talking patiently with her even though she can no longer speak.
For the first time since August, he and I talked to her together on the phone, because at my house we have two extensions. I have sorely missed these three-way conversations in which my dad and I did all the talking and my mom simply listened. Whenever I call her at the nursing home, I am at a terrible loss for words. I usually speak for just four or five minutes, telling her about her five-year-old granddaughter and other things in our life.
“Whenever I arrive at the nursing home, her face just lights up in a big smile,” my dad said many times during his visit. “That makes me feel so good.” He added, “I know I made the right decision putting her in the home. I know she’s happy there.”
One of the hardest parts of my dad’s visit was seeing him so frail. Seeing the man I might become has made me think a lot about my own mortality.
But I fear most my mother’s fate, because I, too, am gene positive for HD. More difficult than seeing Dad was looking at pictures he had taken of my mother at the nursing home. These were the first photographs I’d seen of her since the move. My dad pays a woman to do Mom’s nails and set her hair, but he still needs to coach the nursing home staff on how to use a shower cap to keep her hair nice. It was hard knowing that she can’t receive the same loving care that my father provided (but can no longer provide). There were also photos of her in a wheelchair and with the grimace HD people typically express.
My dad left me some of the pictures. My wife, my daughter, and I looked at them very briefly. My wife and I didn’t say anything, and we quickly put them away. I’ll let them sit a few days until I can collect my thoughts about the flood of emotions that came with my dad’s visit.
When I get the courage to look at them again, I think I’ll take out my favorite picture, the one in which Mom has that big smile that Dad likes to describe. Despite all that HD has done to her, it reminds me that she is still alive and human!
I think I’ll frame that picture.
Saturday, September 24, 2005
Dr. Martha Nance to do live chat on HD
Monday, Sept. 26, at 1 p.m. ET
Outlook: Huntington's Disease
Incurable Disease Looms Before Those With Gene
Dr. Martha Nance
Struthers Parkinson's Center and the University of MinnesotaMonday, September 26, 2005; 1:00 PM
Today there are thousands of Americans who have had themselves tested for the gene for Huntington's Disease and know they will get it. They've seen a parent suffer with it or die from it. But there's still no cure. As genetic testing advances, more and more Americans could find themselves in similar positions, dreading an all-too-familiar fate. In an article in Sunday's Outlook section, Dr. Martha Nance, a Minneapolis neurologist who runs a Parkinson's Disease clinic and who is doing research on treatments for Huntington's, discusses the moving tale of one person who has the gene and the race to find a way to treat people like him.Dr. Martha Nance will be online Monday, Sept. 26, at 1 p.m. ET to discuss her Sunday Outlook article on Huntington's Disease.
Click on this link for more information: http://www.washingtonpost.com/wp-dyn/content/discussion/2005/09/23/DI2005092300953.html .
Outlook: Huntington's Disease
Incurable Disease Looms Before Those With Gene
Dr. Martha Nance
Struthers Parkinson's Center and the University of MinnesotaMonday, September 26, 2005; 1:00 PM
Today there are thousands of Americans who have had themselves tested for the gene for Huntington's Disease and know they will get it. They've seen a parent suffer with it or die from it. But there's still no cure. As genetic testing advances, more and more Americans could find themselves in similar positions, dreading an all-too-familiar fate. In an article in Sunday's Outlook section, Dr. Martha Nance, a Minneapolis neurologist who runs a Parkinson's Disease clinic and who is doing research on treatments for Huntington's, discusses the moving tale of one person who has the gene and the race to find a way to treat people like him.Dr. Martha Nance will be online Monday, Sept. 26, at 1 p.m. ET to discuss her Sunday Outlook article on Huntington's Disease.
Click on this link for more information: http://www.washingtonpost.com/wp-dyn/content/discussion/2005/09/23/DI2005092300953.html .
An uncertain journey along the genetic trail
This article about me is in the September 25, 2005 edition of The Washington Post. I will comment on it in my next entry.
washingtonpost.com
An Uncertain Journey Along the Genetic Trail
By Martha Nance
Sunday, September 25, 2005; B03
There is, unfortunately, a painful lag between scientific knowledge and its benefits. As an expert in Huntington's disease, a degenerative neurological condition, I am keenly aware of this. We know how people get this disease, and there's been an explosion of new information about it, but we still don't know enough to treat or cure it.
Huntington's is caused by a genetic abnormality, one that is easy to test for. And if you inherit it from one of your parents, you will, if you live long enough, eventually develop the symptoms, which can include dementia, depression, involuntary movements and lack of coordination.
This knowledge about one's fate is not unique to the 30,000 sufferers of Huntington's. As genes relating to Alzheimer's and Parkinson's disease and breast cancer and many other medical conditions are uncovered, there is an increasing ability to look into the crystal ball and see which of your parents' fates might be yours. It may seem somewhat distant when it is a disease unfamiliar to you, but it hits you between the eyes when it involves your family or friends.
That came home to me recently when I received a note from a college friend. I hadn't been in touch with him since we'd graduated. He read about me in a publication of the Huntington's Disease Society of America (HDSA) and he sent me his story. He did not know whether I would remember him or what I would think of his plight. His only hope was that I would recognize his ordeal and find some way to help. And I was distant enough not to compromise his desire to remain anonymous; the stigma associated with Huntington's can harm a person's career and relationships, not to mention the ability to get health insurance. He said he felt he was leading "a double life" between his outwardly serene routine and his inner struggle. He called his account "Looking Into the Genetic Mirror," which he was willing to let me quote at length.
"My future began to slip away the day after Christmas 1995, when I received the jolting news that my mother had tested positive for Huntington's disease (HD). Finally I understood her shaking limbs and increasingly angry, childlike manner," he wrote.
He had a good understanding of the medical implications for himself. "I had a 50-50 chance of inheriting HD," he continued. "If I did inherit it, there was no escape, as HD afflicts all carriers of the abnormal gene. Symptoms usually strike in a person's prime, between 30 and 50. There is no cure, nor effective treatment. I was 36, and I could pass HD on to the children my wife and I hoped for.
"I wanted to get tested immediately to find out whether or not I carried the abnormal gene, but local HDSA support group members warned that at-risk individuals had lost their jobs and could not buy health or life insurance. All our dreams went on hold. That night, as fear overwhelmed me, my wife held me tight.
"Each encounter with my mom became a view into a nightmarish genetic mirror. I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.
"With my wife pressing me to start a family, in mid-1999 I discovered my genetic fate through an anonymous testing program. The doctor's words echo: 'You have your mother's gene for HD.' Stunned, I fell into a fog of acceptance, denial, and defiance.
"The next look into the mirror was even more excruciating, because my wife became pregnant. For four months we waited to find out the genetic truth about the new life growing in her womb. Daily we debated whether she could care for two HD people while working. We pondered an abortion. But the anguish gave way to our most joyous moment: our 'miracle baby' -- now 5 -- was free of the HD gene.
"Yet the mirror looms. My mom, today 68 and wheelchair-bound, cannot hug her granddaughter. When I call my parents, she just listens and barely ekes out 'I love you.' Because of her incontinence, my parents can no longer make the trip to visit us. Imagining herself pregnant, one day my mother took her feces to my dad and said she had given birth. In August, he finally had to put her in a nursing home. Death draws near as she loses her ability to swallow.
"Now 45, I agonize as I approach her age of onset. We put off having a second child and save to pay off our mortgage faster, preparing for the day when I will become disabled. I panic when I think of losing the ability to pursue my greatest passions, reading and writing. Will I see my daughter fall in love and go to college?
"Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter.
"We shelter her, telling her that Grandma 'has a boo-boo on her brain.' Yet we may soon need to explain how HD will affect me."
I have held that same mirror up to my patients many times, and I know what his future holds. What he needs from me is hope -- no, more than that, what he needs is progress. He needs a glimpse beyond the genetic mirror. He needs to know the rest of what I know, that treatments for neurodegeneration are on the horizon.
Experimental research in HD began with the 1993 discovery of the gene responsible for the disease. This monumental breakthrough allowed scientists to create "laboratory models" of HD, by inserting the abnormal, slightly enlarged, gene into the eye of the fruit fly, the roundworm, the mouse or cells in test tubes. They could then design experiments to understand how the production of the abnormally elongated Huntington protein encoded by that gene causes HD.
Using these laboratory models, researchers have now begun to identify steps in the process of nerve cell degeneration. An enzyme called caspase cleaves the abnormal HD protein, and the fragments overwhelm the cell's natural garbage disposal, called the proteasome. Many cell processes begin to go awry as the proteins accumulate. The mitochondria, little engines inside the cells, suffer damage along the way. Eventually the abnormal proteins collect in blobs inside the cell. Scientists aren't sure at this point whether the blobs themselves do additional harm or whether they merely reflect a cell no longer able to carry out its usual functions.
Scientists are now scouring libraries of chemicals for compounds that block the formation of these protein blobs, enhance the function of the mitochondria or the proteasome, or block the caspase enzyme. Early trials of promising compounds are beginning in animals and even in humans. Some researchers are studying ways to block the defective HD gene from ever producing the abnormal HD protein in the first place, using a new technology called "RNA interference." Like chemotherapy for cancer, or the AIDS cocktail, a combination of therapies may one day successfully treat Huntington's.
As my friend knows all too well, it is possible to know in advance who will develop HD. We might therefore have the opportunity to try treatments for HD even before any symptoms become obvious -- just as we can treat breast cancer more successfully when it is a pea-size spot on a mammogram than after it has spread throughout the body. And a treatment that works for HD may also benefit people with much more common disorders such as Parkinson's disease and Alzheimer's disease, which share similar sorts of nerve cell degeneration. Since we do not now have a way to know in advance who will develop Parkinson's or Alzheimer's disease, HD research will likely pave the way for advances in these disorders.
It's only been 12 years since we identified the gene that allowed us to begin experimental research on HD, yet early clinical trials of treatments for HD have already started.
I can't promise that this will help my friend, who closed his story with the following reflection: "When my mother lovingly conceived me, she unknowingly passed on a defect that is now our shared destiny."
Unlike his mother's generation, though, my friend does not struggle alone. He and others who are confronting their diseases are pioneers who can help end the stigma and suffering associated with all degenerative neurological diseases.
Author's e-mail: nancem@parknicollet.com
Martha Nance, a neurologist, is director of the Huntington's Disease Society of America Center of Excellence at Hennepin County Medical Center and medical director of the Struthers Parkinson's Center, both in Minneapolis, and a clinical associate professor at the University of Minnesota.
© 2005 The Washington Post Company
http://www.washingtonpost.com/wp-dyn/content/article/2005/09/23/AR2005092302372.html
washingtonpost.com
An Uncertain Journey Along the Genetic Trail
By Martha Nance
Sunday, September 25, 2005; B03
There is, unfortunately, a painful lag between scientific knowledge and its benefits. As an expert in Huntington's disease, a degenerative neurological condition, I am keenly aware of this. We know how people get this disease, and there's been an explosion of new information about it, but we still don't know enough to treat or cure it.
Huntington's is caused by a genetic abnormality, one that is easy to test for. And if you inherit it from one of your parents, you will, if you live long enough, eventually develop the symptoms, which can include dementia, depression, involuntary movements and lack of coordination.
This knowledge about one's fate is not unique to the 30,000 sufferers of Huntington's. As genes relating to Alzheimer's and Parkinson's disease and breast cancer and many other medical conditions are uncovered, there is an increasing ability to look into the crystal ball and see which of your parents' fates might be yours. It may seem somewhat distant when it is a disease unfamiliar to you, but it hits you between the eyes when it involves your family or friends.
That came home to me recently when I received a note from a college friend. I hadn't been in touch with him since we'd graduated. He read about me in a publication of the Huntington's Disease Society of America (HDSA) and he sent me his story. He did not know whether I would remember him or what I would think of his plight. His only hope was that I would recognize his ordeal and find some way to help. And I was distant enough not to compromise his desire to remain anonymous; the stigma associated with Huntington's can harm a person's career and relationships, not to mention the ability to get health insurance. He said he felt he was leading "a double life" between his outwardly serene routine and his inner struggle. He called his account "Looking Into the Genetic Mirror," which he was willing to let me quote at length.
"My future began to slip away the day after Christmas 1995, when I received the jolting news that my mother had tested positive for Huntington's disease (HD). Finally I understood her shaking limbs and increasingly angry, childlike manner," he wrote.
He had a good understanding of the medical implications for himself. "I had a 50-50 chance of inheriting HD," he continued. "If I did inherit it, there was no escape, as HD afflicts all carriers of the abnormal gene. Symptoms usually strike in a person's prime, between 30 and 50. There is no cure, nor effective treatment. I was 36, and I could pass HD on to the children my wife and I hoped for.
"I wanted to get tested immediately to find out whether or not I carried the abnormal gene, but local HDSA support group members warned that at-risk individuals had lost their jobs and could not buy health or life insurance. All our dreams went on hold. That night, as fear overwhelmed me, my wife held me tight.
"Each encounter with my mom became a view into a nightmarish genetic mirror. I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.
"With my wife pressing me to start a family, in mid-1999 I discovered my genetic fate through an anonymous testing program. The doctor's words echo: 'You have your mother's gene for HD.' Stunned, I fell into a fog of acceptance, denial, and defiance.
"The next look into the mirror was even more excruciating, because my wife became pregnant. For four months we waited to find out the genetic truth about the new life growing in her womb. Daily we debated whether she could care for two HD people while working. We pondered an abortion. But the anguish gave way to our most joyous moment: our 'miracle baby' -- now 5 -- was free of the HD gene.
"Yet the mirror looms. My mom, today 68 and wheelchair-bound, cannot hug her granddaughter. When I call my parents, she just listens and barely ekes out 'I love you.' Because of her incontinence, my parents can no longer make the trip to visit us. Imagining herself pregnant, one day my mother took her feces to my dad and said she had given birth. In August, he finally had to put her in a nursing home. Death draws near as she loses her ability to swallow.
"Now 45, I agonize as I approach her age of onset. We put off having a second child and save to pay off our mortgage faster, preparing for the day when I will become disabled. I panic when I think of losing the ability to pursue my greatest passions, reading and writing. Will I see my daughter fall in love and go to college?
"Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter.
"We shelter her, telling her that Grandma 'has a boo-boo on her brain.' Yet we may soon need to explain how HD will affect me."
I have held that same mirror up to my patients many times, and I know what his future holds. What he needs from me is hope -- no, more than that, what he needs is progress. He needs a glimpse beyond the genetic mirror. He needs to know the rest of what I know, that treatments for neurodegeneration are on the horizon.
Experimental research in HD began with the 1993 discovery of the gene responsible for the disease. This monumental breakthrough allowed scientists to create "laboratory models" of HD, by inserting the abnormal, slightly enlarged, gene into the eye of the fruit fly, the roundworm, the mouse or cells in test tubes. They could then design experiments to understand how the production of the abnormally elongated Huntington protein encoded by that gene causes HD.
Using these laboratory models, researchers have now begun to identify steps in the process of nerve cell degeneration. An enzyme called caspase cleaves the abnormal HD protein, and the fragments overwhelm the cell's natural garbage disposal, called the proteasome. Many cell processes begin to go awry as the proteins accumulate. The mitochondria, little engines inside the cells, suffer damage along the way. Eventually the abnormal proteins collect in blobs inside the cell. Scientists aren't sure at this point whether the blobs themselves do additional harm or whether they merely reflect a cell no longer able to carry out its usual functions.
Scientists are now scouring libraries of chemicals for compounds that block the formation of these protein blobs, enhance the function of the mitochondria or the proteasome, or block the caspase enzyme. Early trials of promising compounds are beginning in animals and even in humans. Some researchers are studying ways to block the defective HD gene from ever producing the abnormal HD protein in the first place, using a new technology called "RNA interference." Like chemotherapy for cancer, or the AIDS cocktail, a combination of therapies may one day successfully treat Huntington's.
As my friend knows all too well, it is possible to know in advance who will develop HD. We might therefore have the opportunity to try treatments for HD even before any symptoms become obvious -- just as we can treat breast cancer more successfully when it is a pea-size spot on a mammogram than after it has spread throughout the body. And a treatment that works for HD may also benefit people with much more common disorders such as Parkinson's disease and Alzheimer's disease, which share similar sorts of nerve cell degeneration. Since we do not now have a way to know in advance who will develop Parkinson's or Alzheimer's disease, HD research will likely pave the way for advances in these disorders.
It's only been 12 years since we identified the gene that allowed us to begin experimental research on HD, yet early clinical trials of treatments for HD have already started.
I can't promise that this will help my friend, who closed his story with the following reflection: "When my mother lovingly conceived me, she unknowingly passed on a defect that is now our shared destiny."
Unlike his mother's generation, though, my friend does not struggle alone. He and others who are confronting their diseases are pioneers who can help end the stigma and suffering associated with all degenerative neurological diseases.
Author's e-mail: nancem@parknicollet.com
Martha Nance, a neurologist, is director of the Huntington's Disease Society of America Center of Excellence at Hennepin County Medical Center and medical director of the Struthers Parkinson's Center, both in Minneapolis, and a clinical associate professor at the University of Minnesota.
© 2005 The Washington Post Company
http://www.washingtonpost.com/wp-dyn/content/article/2005/09/23/AR2005092302372.html
Tuesday, July 19, 2005
Planning for Mom's move to a nursing home
My family faces a moment almost as difficult as an impending death: My sister, my father, and I are about to make the wrenching decision to put my mother in a nursing home.
Mom has had HD for at least fifteen years, since she was in her early fifties. As a caregiver, my father has been saintly. However, she has declined rapidly over the past few years, losing the ability to talk and walk. Last year she broke her wrist during a fall, and earlier this year she suffered a large gash to her head after hitting a piece of furniture.
In just one day this past week she fell three times. Once again my dad had to call 911 for help in lifting her off the floor. She now has bruises on her chest and back. At 77 and suffering from a heart condition, Dad can no longer provide Mom with adequate care.
Over the past few weeks my family has experienced a whirlwind of plans and emotions. First my sister, Mom, and Dad met with a lawyer to prepare my parents' finances and legal matters for a Medicaid application. (I live in another state and could not attend the meeting.)
Nursing homes in their area cost more than $5,000 per month for a semi-private room. At that cost, my parents' savings will run out in a few months, leaving them no choice but to depend on public assistance. Before they can qualify for Medicaid, they must spend practically all of my mother’s savings and about half of my Dad's.
My sister and I have had emotionally draining phone calls about the legal, health, and logistical aspects of this big change in our lives. Just talking about HD reminds us of the disease’s threat to our families. Like me, my sister has a 50-50 chance of having inherited the disease from Mom, and she has three sons who could also be at risk. Mom’s departure will disrupt my parents’ lives and deeply sadden all of us. As I thought of my mother's illness, I saw our family's history pass before my eyes, from the time Mom used to smile at us children to the cruel cognitive loss that has stolen her ability to speak. I was gripped with anger, confusion, guilt, and doubt. How could this happen to my mother? Are we doing the right thing for her?
We have no experience with nursing homes and are learning as we go. The process feels utterly haphazard. There are so many variables involved, and each time we speak new ones arise. What's better, a big facility or a small one? What are the nurse-patient and aide-patient ratios? Do we put her in a private room, a semi-private one, or a quad? Which home would be most convenient for my father to drive to? What kind of physical therapy will be available? How will Mom interact with the other patients?
And the biggest questions of all: how familiar is the staff with HD, and will they be able to adapt to the unique disease profile that HD has characteristically produced in my mother? Will they be able to keep her from falling and injuring herself without having to strap her down or drug her? Most nursing homes do not have staff trained specifically for HD patients. In fact, some reject HD patients because of prejudice or the perceived difficulties in caring for them.
"If we were millionaires," I said to my sister, "we could build a special home for Mom and Dad with all the necessary protections for Mom, and we could hire around-the-clock help to make sure she didn't fall any more. But we are not millionaires. The only choice we have is to put her in a home."
The other night I cried as I realized that Mom's transition to a nursing home will leave an emptiness in all of our lives. I imagined her and my father separated for the first time. I thought of her being alone for many hours without anybody to love her. I felt a premonition of the shock I will experience when I visit her there for the first time. I wondered about the impact on my five-year-old daughter of seeing her grandma in a place with many old and disabled people.
And I remembered that I myself run the risk of ending up in the same lonely circumstances as Mom.
The hardest part of this decision is convincing Dad that the time has come to move Mom. He is dedicated and stubborn – and afraid. Whenever I broach the idea, he changes the subject. The weather, meals, his tomato plants, the birds and animals in his yard, the church bazaar – anything is easier to talk about than a nursing home.
A couple days ago I put the matter directly to my mother for the first time. HD makes it impossible for her to converse but she can listen, and I wanted her to start getting accustomed to the idea of living away from my father. As I said, I want them to have to a heart-to-heart conversation about this.
"It's not easy to do this after you've been in a good relationship with a person for almost fifty years," Dad said.
Our whole family is starting a new phase. The transition to the nursing home is just the start. We will have to be vigilant about her care. Each visit will generate new emotions. The most important thing we can do is to make Mom feel as comfortable as possible and to continue to show our love in the final years of her life.
Mom has had HD for at least fifteen years, since she was in her early fifties. As a caregiver, my father has been saintly. However, she has declined rapidly over the past few years, losing the ability to talk and walk. Last year she broke her wrist during a fall, and earlier this year she suffered a large gash to her head after hitting a piece of furniture.
In just one day this past week she fell three times. Once again my dad had to call 911 for help in lifting her off the floor. She now has bruises on her chest and back. At 77 and suffering from a heart condition, Dad can no longer provide Mom with adequate care.
Over the past few weeks my family has experienced a whirlwind of plans and emotions. First my sister, Mom, and Dad met with a lawyer to prepare my parents' finances and legal matters for a Medicaid application. (I live in another state and could not attend the meeting.)
Nursing homes in their area cost more than $5,000 per month for a semi-private room. At that cost, my parents' savings will run out in a few months, leaving them no choice but to depend on public assistance. Before they can qualify for Medicaid, they must spend practically all of my mother’s savings and about half of my Dad's.
My sister and I have had emotionally draining phone calls about the legal, health, and logistical aspects of this big change in our lives. Just talking about HD reminds us of the disease’s threat to our families. Like me, my sister has a 50-50 chance of having inherited the disease from Mom, and she has three sons who could also be at risk. Mom’s departure will disrupt my parents’ lives and deeply sadden all of us. As I thought of my mother's illness, I saw our family's history pass before my eyes, from the time Mom used to smile at us children to the cruel cognitive loss that has stolen her ability to speak. I was gripped with anger, confusion, guilt, and doubt. How could this happen to my mother? Are we doing the right thing for her?
We have no experience with nursing homes and are learning as we go. The process feels utterly haphazard. There are so many variables involved, and each time we speak new ones arise. What's better, a big facility or a small one? What are the nurse-patient and aide-patient ratios? Do we put her in a private room, a semi-private one, or a quad? Which home would be most convenient for my father to drive to? What kind of physical therapy will be available? How will Mom interact with the other patients?
And the biggest questions of all: how familiar is the staff with HD, and will they be able to adapt to the unique disease profile that HD has characteristically produced in my mother? Will they be able to keep her from falling and injuring herself without having to strap her down or drug her? Most nursing homes do not have staff trained specifically for HD patients. In fact, some reject HD patients because of prejudice or the perceived difficulties in caring for them.
"If we were millionaires," I said to my sister, "we could build a special home for Mom and Dad with all the necessary protections for Mom, and we could hire around-the-clock help to make sure she didn't fall any more. But we are not millionaires. The only choice we have is to put her in a home."
The other night I cried as I realized that Mom's transition to a nursing home will leave an emptiness in all of our lives. I imagined her and my father separated for the first time. I thought of her being alone for many hours without anybody to love her. I felt a premonition of the shock I will experience when I visit her there for the first time. I wondered about the impact on my five-year-old daughter of seeing her grandma in a place with many old and disabled people.
And I remembered that I myself run the risk of ending up in the same lonely circumstances as Mom.
The hardest part of this decision is convincing Dad that the time has come to move Mom. He is dedicated and stubborn – and afraid. Whenever I broach the idea, he changes the subject. The weather, meals, his tomato plants, the birds and animals in his yard, the church bazaar – anything is easier to talk about than a nursing home.
A couple days ago I put the matter directly to my mother for the first time. HD makes it impossible for her to converse but she can listen, and I wanted her to start getting accustomed to the idea of living away from my father. As I said, I want them to have to a heart-to-heart conversation about this.
"It's not easy to do this after you've been in a good relationship with a person for almost fifty years," Dad said.
Our whole family is starting a new phase. The transition to the nursing home is just the start. We will have to be vigilant about her care. Each visit will generate new emotions. The most important thing we can do is to make Mom feel as comfortable as possible and to continue to show our love in the final years of her life.
Thursday, May 05, 2005
Preparing for a lonely day
One of my deepest fears about Huntington’s disease is knowing that there could come a day when my wife cannot take care of me. If I follow in my HD-stricken mother’s footsteps, I will need help starting in my mid-50s. My wife and I have had several conversations about this.
I want to stay home as long as possible. I don’t want to go into a nursing home or similar facility. I have seen HD patients in such conditions, and it frightens me to see how they receive so little attention or stimulation.
At one place I saw a woman belted to a special chair. She writhed uncontrollably. I wonder: “What kind of life is that?”
Other patients lived in cubicles. One had a padded floor on which the patient lay.
I am hoping that caregivers can be hired to take care of me at home. Our insurance would likely cover only part of the costs, so we’re saving to try to cover the difference. But this might be only during the day. Who will take care of me in the evenings?
My wife points out that she will not be able to work full time during the day and then take care of me during the evenings, when she will have to be managing the household and helping our daughter with schoolwork and other things.
The day my wife told me that I’d have to go to a care facility when home care was no longer possible, I felt abandoned and utterly lonely.
Sometimes I tell my wife that I prefer suicide to going into a nursing home. In fact, suicide rates among HD people are higher than average. In a notorious 2002 incident a Georgia mother shot her adult sons, who had advanced HD, to help them escape their misery.
I need to plan now, while I’m healthy, to make sure that I can stay at home as long as possible. I must find professional caregivers who know about HD.
That’s a difficult task, as my family has discovered with my mother. So few people know about HD, and many doctors have never seen a case of it. The lady who cares for my mother a few hours per week mainly bathes her, does her hair and nails, and helps clean the house. She has no HD-specific training and cannot give my mother the physical and psychological stimulation she needs. I am convinced that, if my mother had gotten better help a decade ago when the disease first struck, she would be better off today. Sadly, our health care system fails to train people to work with HD patients.
To me, life is action. I want to be cared for by people who will recognize the remnants of that impulse in me once HD has erased many of my faculties. Struggling with HD is not just about ameliorating symptoms. It’s also about building a support team that can preserve the patient’s humanity as much as possible.
I want to stay home as long as possible. I don’t want to go into a nursing home or similar facility. I have seen HD patients in such conditions, and it frightens me to see how they receive so little attention or stimulation.
At one place I saw a woman belted to a special chair. She writhed uncontrollably. I wonder: “What kind of life is that?”
Other patients lived in cubicles. One had a padded floor on which the patient lay.
I am hoping that caregivers can be hired to take care of me at home. Our insurance would likely cover only part of the costs, so we’re saving to try to cover the difference. But this might be only during the day. Who will take care of me in the evenings?
My wife points out that she will not be able to work full time during the day and then take care of me during the evenings, when she will have to be managing the household and helping our daughter with schoolwork and other things.
The day my wife told me that I’d have to go to a care facility when home care was no longer possible, I felt abandoned and utterly lonely.
Sometimes I tell my wife that I prefer suicide to going into a nursing home. In fact, suicide rates among HD people are higher than average. In a notorious 2002 incident a Georgia mother shot her adult sons, who had advanced HD, to help them escape their misery.
I need to plan now, while I’m healthy, to make sure that I can stay at home as long as possible. I must find professional caregivers who know about HD.
That’s a difficult task, as my family has discovered with my mother. So few people know about HD, and many doctors have never seen a case of it. The lady who cares for my mother a few hours per week mainly bathes her, does her hair and nails, and helps clean the house. She has no HD-specific training and cannot give my mother the physical and psychological stimulation she needs. I am convinced that, if my mother had gotten better help a decade ago when the disease first struck, she would be better off today. Sadly, our health care system fails to train people to work with HD patients.
To me, life is action. I want to be cared for by people who will recognize the remnants of that impulse in me once HD has erased many of my faculties. Struggling with HD is not just about ameliorating symptoms. It’s also about building a support team that can preserve the patient’s humanity as much as possible.
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