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.
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