On June 15, 2009, I walked again into the epicenter of what could be the first treatment for Huntington’s disease: the Isis Pharmaceuticals, Inc. research facility in Carlsbad, California.
It was like a walk into the future. I am gene-positive for Huntington’s, and Isis is seeking to make a drug that could save me from one of humanity’s cruelest diseases. My mother, who passed on the defective gene to me, died of the disease in February 2006 at 68, after struggling with the disease for about twenty years. (Click here to read about how I said good-bye to her.) This year I turn 50, the age at which she was already showing symptoms.
Will I someday take the Isis drug for HD? Or will I be doomed to end up unable to speak and in a wheelchair?
Those were some of my thoughts as I followed up my April 2008 visit, when I learned how Isis was aiming to create a “laser-guided missile” to attack Huntington’s. (Please click here to read my entry on that visit.)
Cautious optimism
I heard great news: the project is on schedule, and both Isis and the sponsor of the research, the CHDI Foundation, Inc., are optimistic that they will find a drug molecule by the end of this year. Human testing would begin in 2011.
Last year I brimmed with enthusiasm about Isis, but the project was only in its early stages. My optimism was justified: this year I sensed great confidence at Isis. (Please click here to see my detailed update on the project.)
However, I am also tempering my optimism with the knowledge that pharmaceutical research – even in the case of a brilliant, cutting-edge company such as Isis – is always a long-shot. Only one in ten drugs that enter human trials will ever make it to market.
Effective research requires time – a commodity in short supply for those of us racing against the clock. As Dr. Frank Bennett, the Isis senior vice president for research, pointed out, even if everything goes perfectly, it would still take at least ten years for the drug to be fine-tuned for use as a preventive measure in asymptomatic, gene-positive individuals like me.
Fighting for the cause
But I am not disheartened. On the contrary, I feel the same confidence as Dr. Bennett and the other people I spoke with at Isis such as Dr. Alejandro Lloret, who is fighting passionately to find the treatment. (Please click here to read my article about Dr. Lloret.)
I know that I too must fight – to raise awareness about Huntington’s disease and to help bring more support for our cause. Isis is deepening its commitment to research on other neurological diseases. With its unique technology it could start a revolution in the pharmaceutical industry. We HD activists need to educate the public about the potential benefits of Huntington’s research for all of humanity.
Above all, I’ve got to stay healthy until the possible Isis treatment for at-risk people comes online. No gene-positive person can know the exact moment symptoms will start. All we can do is take care of ourselves and keep hoping.
Part of good health is staying informed and remaining optimistic. It was a tremendous boost to shake the hands of the people working to stop HD, to hear their own optimism, and to see them at work in the lab. They care about people like me, and that gives me the energy I need to keep up the fight.
Tuesday, July 07, 2009
Wednesday, June 24, 2009
The time is ripe
Although I am gene-positive for Huntington’s disease and could very soon develop its dehumanizing symptoms, I feel immensely privileged to live in a time and in a country in which a treatment has become possible.
Huntington’s is still a relatively unknown disease; in the HD community, many people are still shrouded in ignorance, fear, and denial. I have touched on these themes frequently in this blog, as in the story of the woman who changed her identity and fled after her symptoms began (click here to read more).
However, scientific research has given us an increasingly detailed understanding of the cause of Huntington’s disease, its symptoms, and its social impact. And new revelations are emerging.
The path of research
In 1993, the huntingtin gene was discovered. Three years later, the huntingtin protein was found. A plethora of projects carried out by scientists around the world have sought to illustrate how the defective protein wreaks havoc in brain cells.
Meanwhile, neuroscientists and psychologists have worked diligently to trace the earliest, most subtle symptoms of the disease – for example, changes in the sense of smell – in order to prepare the way for drugs designed to stop HD symptoms early.
Several MRI studies have mapped how HD devastates specific areas of the brain. I have taken part in two of these studies. Last year, for instance, I spent most of a day lying inside functional MRI machines at a local university. Sometimes I simply slept, while other times I was required to play a kind of video game so that the machine could check my brain’s reactions.
Another discovery
On June 5, scientists made yet another startling revelation that further unravels the mystery of HD: a second protein, called Rhes, interacts with huntingtin in a way that may lead to the death of cells in the striatum, the main area of the brain affected by HD.
Everybody has the huntingtin gene and its protein product of the same name, but only people with an elongated form of the gene develop HD. Huntingtin is present in every cell of the body, so why does HD kill only brain cells? The new research indicates that the presence of Rhes, which is located in the striatum, could be one of the keys to cell death.
Scientists immediately speculated that now Rhes, and not just huntingtin, could become a target for potential drugs against HD.
The new research was carried out at Johns Hopkins University (click here to read more). Rhes itself was first identified several years ago at the Scripps Research Institute in La Jolla.
Nobody can predict when or even if an actual treatment for HD will be developed, because HD involves many factors. Further surprises such as the Rhes discovery could occur – either slowing progress by creating new puzzles or speeding it up by indicating other possible drug targets.
Other signs of hope
On June 15, I made a follow-up trip to Isis Pharmaceuticals in Carlsbad, California, to receive an update on the search for a drug to partially block the effects of the huntingtin gene – the first such attempt of its kind. As I did after my visit there last year, I came away with a feeling of optimism about the quest for a Huntington’s disease treatment.
Stay tuned – I will be blogging on my Isis visit very soon. (Click here to read my previous posting.)
Two days later I met with two scientists and a businessman who have started a new early-stage drug discovery company (CalAsia Pharmaceuticals) that uses a cutting-edge technology known as DFS, Differential Fragment-Based Screening, a way of identifying molecules that could serve as drugs. They are considering using their technology to help identify possible treatments for HD.
The other advances and programs taking place in HD research are too numerous to discuss here. Indeed, covering the Huntington’s disease beat properly would require a full-time, professional science writer. Years ago I used to write a tri-annual research “roundup,” summarizing all of the important findings in a single article. In the last few years I have found it too big a task.
That is good news, because it means that scientists are building a critical mass of knowledge about HD that is bringing us closer to treatments and maybe even the cure.
It’s a historic moment.
A fighting chance
When my mother conceived me in 1959, she had no inkling that she would someday develop Huntington’s disease or that she had passed on a defective huntingtin gene to me. In 1999 – ten years ago this month – I was able to take a definitive predictive test.
Since then I have proactively worked to care for my health and contribute to the search for treatments and a cure. I have participated in a support group, become an activist for the Huntington’s Disease Society of America, and taken the supplements recommended by the Huntington’s Disease Drug Works program.
My test result was positive. But today I feel that we in the Huntington’s disease community have a fighting chance to see this disease beaten in our lifetimes. We owe this chance in part to our greatness as a nation and to a generation of researchers who have passionately pursued the understanding of HD and other neurological diseases.
Huntington’s is still a relatively unknown disease; in the HD community, many people are still shrouded in ignorance, fear, and denial. I have touched on these themes frequently in this blog, as in the story of the woman who changed her identity and fled after her symptoms began (click here to read more).
However, scientific research has given us an increasingly detailed understanding of the cause of Huntington’s disease, its symptoms, and its social impact. And new revelations are emerging.
The path of research
In 1993, the huntingtin gene was discovered. Three years later, the huntingtin protein was found. A plethora of projects carried out by scientists around the world have sought to illustrate how the defective protein wreaks havoc in brain cells.
Meanwhile, neuroscientists and psychologists have worked diligently to trace the earliest, most subtle symptoms of the disease – for example, changes in the sense of smell – in order to prepare the way for drugs designed to stop HD symptoms early.
Several MRI studies have mapped how HD devastates specific areas of the brain. I have taken part in two of these studies. Last year, for instance, I spent most of a day lying inside functional MRI machines at a local university. Sometimes I simply slept, while other times I was required to play a kind of video game so that the machine could check my brain’s reactions.
Another discovery
On June 5, scientists made yet another startling revelation that further unravels the mystery of HD: a second protein, called Rhes, interacts with huntingtin in a way that may lead to the death of cells in the striatum, the main area of the brain affected by HD.
Everybody has the huntingtin gene and its protein product of the same name, but only people with an elongated form of the gene develop HD. Huntingtin is present in every cell of the body, so why does HD kill only brain cells? The new research indicates that the presence of Rhes, which is located in the striatum, could be one of the keys to cell death.
Scientists immediately speculated that now Rhes, and not just huntingtin, could become a target for potential drugs against HD.
The new research was carried out at Johns Hopkins University (click here to read more). Rhes itself was first identified several years ago at the Scripps Research Institute in La Jolla.
Nobody can predict when or even if an actual treatment for HD will be developed, because HD involves many factors. Further surprises such as the Rhes discovery could occur – either slowing progress by creating new puzzles or speeding it up by indicating other possible drug targets.
Other signs of hope
On June 15, I made a follow-up trip to Isis Pharmaceuticals in Carlsbad, California, to receive an update on the search for a drug to partially block the effects of the huntingtin gene – the first such attempt of its kind. As I did after my visit there last year, I came away with a feeling of optimism about the quest for a Huntington’s disease treatment.
Stay tuned – I will be blogging on my Isis visit very soon. (Click here to read my previous posting.)
Two days later I met with two scientists and a businessman who have started a new early-stage drug discovery company (CalAsia Pharmaceuticals) that uses a cutting-edge technology known as DFS, Differential Fragment-Based Screening, a way of identifying molecules that could serve as drugs. They are considering using their technology to help identify possible treatments for HD.
The other advances and programs taking place in HD research are too numerous to discuss here. Indeed, covering the Huntington’s disease beat properly would require a full-time, professional science writer. Years ago I used to write a tri-annual research “roundup,” summarizing all of the important findings in a single article. In the last few years I have found it too big a task.
That is good news, because it means that scientists are building a critical mass of knowledge about HD that is bringing us closer to treatments and maybe even the cure.
It’s a historic moment.
A fighting chance
When my mother conceived me in 1959, she had no inkling that she would someday develop Huntington’s disease or that she had passed on a defective huntingtin gene to me. In 1999 – ten years ago this month – I was able to take a definitive predictive test.
Since then I have proactively worked to care for my health and contribute to the search for treatments and a cure. I have participated in a support group, become an activist for the Huntington’s Disease Society of America, and taken the supplements recommended by the Huntington’s Disease Drug Works program.
My test result was positive. But today I feel that we in the Huntington’s disease community have a fighting chance to see this disease beaten in our lifetimes. We owe this chance in part to our greatness as a nation and to a generation of researchers who have passionately pursued the understanding of HD and other neurological diseases.
Monday, May 25, 2009
To flee or to fight
People respond to a diagnosis of Huntington’s disease in many ways, ranging from complete denial to optimism about the research for a cure. Indeed, in order to cope, a person with HD or at risk for the disease can experience the entire range of feelings within his or her own life – perhaps in just one day.
In the last decade, I myself have gone through dark moments of thinking that my symptoms had started and also felt near euphoria after learning of potential breakthroughs towards an effective treatment. I tested positive for Huntington’s in 1999, and my mother died of the disease in 2006 at age 68.
But some reactions, falling into a category all by themselves, stir up the deepest of emotions.
Changing her identity
I got that feeling this past week when I read the following anonymous comment on my previous blog posting (click here to read it). It reads:
“Thank you, Gene. I am new to this forum and my connection with HD is an in-law who has begun showing signs. I have wept much since she first confided in me (only five people in the world know as she changed her identity and left home long ago to escape the horror). She is the bravest person I have ever met. I do not know how you live with the time bomb, and I pray for her continually to know a measure of peace. I am adding you to my prayer list as well.”
Reading about this person’s decision to change her identity and move away sank my heart. I felt deep sadness and empathy for this person. I know nothing else about her, but I believe I know exactly what she is feeling.
Like an injured animal that knows it will not survive, she has gone off into the wilderness to die.
She reminded me of Phebe Hedges, a 40-year-old woman with HD who walked into the sea in an act of suicide, as described in Alice Wexler’s book about Huntington’s, The Woman Who Walked into the Sea (click here to read about the book).
The instinct to protect
The woman who fled acted on instinct, seeking to remove herself from all of the social horrors often experienced by the affected and their families, including denial, stigma, and discrimination.
Her instinct also led her to preserve those around her from witnessing the terrible symptoms of HD such as the inability to walk, talk, think, swallow, and remember. As her brain dies and her humanity disappears, their lives will go on in relative tranquility.
I remember visiting my mother for the first time after her diagnosis. I had not seen her since her and my father’s trip to visit my wife and me in California. I had urged my father to seek out a specialist to get to the root of my mother’s unexplained strange behavior. Now, speaking about her diagnosis, she appeared very sad and depressed. She was upset because she could not stop saying “yep.” Her self-control was disappearing. She appeared helpless and bewildered.
Looking back on that moment, I think she must have had those same deep, instinctual feelings about her impending decline.
Thoughts of suicide
The story of the woman who fled evoked my own thoughts about suicide. In the first years after my positive test for Huntington’s disease, I told my wife and some close friends that I would prefer to die with my health relatively intact than to be forced to watch myself lose my ability to write, work, and enjoy my family.
I fantasized about organizing a farewell ceremony at which I would announce my decision to my friends and family and then privately take my leave of the world. This, I thought, would be better than flailing about lonely and mindlessly while being tied down to a chair or confined to a room in a nursing home, the fate of some HD patients.
As I became deeply involved in raising of my daughter and in the local chapter of the Huntington’s Disease Society of America (HDSA), I repressed these thoughts and channeled my energies into the movement to find treatments and a cure.
I am hoping that the memory of those dark thoughts has come alive again only for a short time.
I will need complete focus as yet another stage looms in my personal battle against HD: the need to become more public in my activism.
We must speak out
I would never criticize the woman who fled, for I saw her pain in my mother’s face and have denied my own at-risk status in numerous ways. As my readers know, I use a pseudonym on this blog – my own self-protection because of the horrors of HD. And if I develop full-blown, highly debilitating symptoms, suicide might once again look like the only way out.
But at this juncture I want to go down fighting. And I have come to believe that, despite whatever happens to me because of HD, my life can still have deep meaning and significance.
As one caregiver stated angrily at a Huntington’s disease support group meeting that I attended last month, nobody will notice – or help – affected individuals and their families unless we speak out and let the world know about the enormous challenges posed by HD.
A dream about going public
Two nights ago, after I had started writing this entry, I dreamt very clearly about Huntington’s. In the dream my co-workers – who in reality and in the dream do not know about my situation because of my fear of discrimination, and of losing my job or not getting a better one – are speaking enthusiastically about a new and deeply worthy cause: HDSA. They are planning to attend an exciting fundraising event that the organization is putting on in a few days (click here to read more).
Near the end of the dream I decide to reveal my story to this warm and understanding group of people.
Like the woman who fled, I cannot escape the horrors of Huntington’s disease. But, unlike the animal that dies alone in the wilderness, I can tap into a community for help – a community of HD families, activists, and supporters who are working to find treatments and a cure.
As I often write to others in the community, together we can beat this disease.
In the last decade, I myself have gone through dark moments of thinking that my symptoms had started and also felt near euphoria after learning of potential breakthroughs towards an effective treatment. I tested positive for Huntington’s in 1999, and my mother died of the disease in 2006 at age 68.
But some reactions, falling into a category all by themselves, stir up the deepest of emotions.
Changing her identity
I got that feeling this past week when I read the following anonymous comment on my previous blog posting (click here to read it). It reads:
“Thank you, Gene. I am new to this forum and my connection with HD is an in-law who has begun showing signs. I have wept much since she first confided in me (only five people in the world know as she changed her identity and left home long ago to escape the horror). She is the bravest person I have ever met. I do not know how you live with the time bomb, and I pray for her continually to know a measure of peace. I am adding you to my prayer list as well.”
Reading about this person’s decision to change her identity and move away sank my heart. I felt deep sadness and empathy for this person. I know nothing else about her, but I believe I know exactly what she is feeling.
Like an injured animal that knows it will not survive, she has gone off into the wilderness to die.
She reminded me of Phebe Hedges, a 40-year-old woman with HD who walked into the sea in an act of suicide, as described in Alice Wexler’s book about Huntington’s, The Woman Who Walked into the Sea (click here to read about the book).
The instinct to protect
The woman who fled acted on instinct, seeking to remove herself from all of the social horrors often experienced by the affected and their families, including denial, stigma, and discrimination.
Her instinct also led her to preserve those around her from witnessing the terrible symptoms of HD such as the inability to walk, talk, think, swallow, and remember. As her brain dies and her humanity disappears, their lives will go on in relative tranquility.
I remember visiting my mother for the first time after her diagnosis. I had not seen her since her and my father’s trip to visit my wife and me in California. I had urged my father to seek out a specialist to get to the root of my mother’s unexplained strange behavior. Now, speaking about her diagnosis, she appeared very sad and depressed. She was upset because she could not stop saying “yep.” Her self-control was disappearing. She appeared helpless and bewildered.
Looking back on that moment, I think she must have had those same deep, instinctual feelings about her impending decline.
Thoughts of suicide
The story of the woman who fled evoked my own thoughts about suicide. In the first years after my positive test for Huntington’s disease, I told my wife and some close friends that I would prefer to die with my health relatively intact than to be forced to watch myself lose my ability to write, work, and enjoy my family.
I fantasized about organizing a farewell ceremony at which I would announce my decision to my friends and family and then privately take my leave of the world. This, I thought, would be better than flailing about lonely and mindlessly while being tied down to a chair or confined to a room in a nursing home, the fate of some HD patients.
As I became deeply involved in raising of my daughter and in the local chapter of the Huntington’s Disease Society of America (HDSA), I repressed these thoughts and channeled my energies into the movement to find treatments and a cure.
I am hoping that the memory of those dark thoughts has come alive again only for a short time.
I will need complete focus as yet another stage looms in my personal battle against HD: the need to become more public in my activism.
We must speak out
I would never criticize the woman who fled, for I saw her pain in my mother’s face and have denied my own at-risk status in numerous ways. As my readers know, I use a pseudonym on this blog – my own self-protection because of the horrors of HD. And if I develop full-blown, highly debilitating symptoms, suicide might once again look like the only way out.
But at this juncture I want to go down fighting. And I have come to believe that, despite whatever happens to me because of HD, my life can still have deep meaning and significance.
As one caregiver stated angrily at a Huntington’s disease support group meeting that I attended last month, nobody will notice – or help – affected individuals and their families unless we speak out and let the world know about the enormous challenges posed by HD.
A dream about going public
Two nights ago, after I had started writing this entry, I dreamt very clearly about Huntington’s. In the dream my co-workers – who in reality and in the dream do not know about my situation because of my fear of discrimination, and of losing my job or not getting a better one – are speaking enthusiastically about a new and deeply worthy cause: HDSA. They are planning to attend an exciting fundraising event that the organization is putting on in a few days (click here to read more).
Near the end of the dream I decide to reveal my story to this warm and understanding group of people.
Like the woman who fled, I cannot escape the horrors of Huntington’s disease. But, unlike the animal that dies alone in the wilderness, I can tap into a community for help – a community of HD families, activists, and supporters who are working to find treatments and a cure.
As I often write to others in the community, together we can beat this disease.
Saturday, May 16, 2009
HD: hurtling towards death
Knowing that the first, subtle, and practically imperceptible symptoms of Huntington’s disease are most likely already at work in my brain and body, I have become hyper-conscious about the brevity of life.
We are all in a race to death, but people at risk for life-shortening diseases know that their time to the finish line is painfully fast and troubled. In my case these feelings erupted to the surface of my being as I saw my mother in the devastating final stages of Huntington’s disease in 2005 and early 2006 (click here to read more). They intensified as I dealt with deep grief about her death and my future as an at-risk individual after attending her funeral in February 2006.
Since then I have increasingly thought of the acronym “HD” in a very different light. For me it stands not only for “Huntington’s disease,” but also for the fact that I am “hurtling towards death.”
I’ve been a workaholic and a perfectionist since childhood. I feel a fanatical urge to “get everything done” before I start having perceptible, debilitating symptoms. And lately the need to build a prominent legacy has consumed me.
Striving for efficiency
On the professional front, it’s not been enough for me to publish several respected books in my field. I strive for ways to liberate my creative activities in the same way that led Isaac Asimov to write hundreds of books.
At home and on the computer I am constantly responding to and/or saving the many e-mails I receive each day from four different accounts, and I am organizing our family papers into files and file boxes.
On the family front, I’ve been pushing my eight-year-old daughter to practice her piano as we prepare for our second annual piano-guitar duet next month. I pick her up from school three days a week and am in charge of the home for many hours, as my wife also works full time. I regularly have to stop myself from turning our relationship into yet another opportunity to value efficiency above all in my life.
My relationship with my wife has increasingly revolved around raising our daughter, as neither of us has relatives nearby to help with her care or to nurture family ties. As she finishes the third grade, planning for a possible transfer to private school – with her college education in mind – has taken on greater urgency.
We’ve also been spending lots of time and money remodeling our home, and, as I wrote recently (click here to read the entry), we’ve now taken on the building of a swimming pool. The pool will be an antidote to the hectic pace of our lives, but for now its construction is a new source of stress as we negotiate with contractors, watch our back yard turn into a massive hole, and put up with the din of machinery.
A decade of activism
Last month I completed eleven years as an activist for the local chapter of the Huntington’s Disease Society of America (HDSA). For seven of those years I wrote, edited, and published the chapter newsletter and participated in a plethora of other activities, from taking notes at board meetings and folding the newsletters to raising money and organizing meetings of HD advocates with California’s stem-cell oversight board in the quest for funding HD research.
My latest project was to oversee the overhaul of the chapter web site that I inaugurated in 2002. With limited funds and time, it was a time-consuming but rewarding task. This blog will now be published on the site too, and I will manage and edit the site and produce articles for it (click here to visit the site).
All of this frenetic activity has come to a head as I worry about the health of my father, a Huntington’s disease warrior who cared for my mother for 15 years and who has declined rapidly in the past few months (click here to read that entry).
HD people: like anybody else
Two weekends ago someone blind-sided my car, sending me to the hospital briefly and causing $3,000 in damage to my vehicle. I escaped with just a sore neck, but it was the first time I was involved in an accident. The shock left me emotionally paralyzed for the better part of a week, and the hassle of dealing with insurance companies, getting a rental car, and finding a repair shop threw off my focus.
“This can’t happen to me!” I angrily told myself. “I have HD to worry about! I have an agenda to meet and a mission to fulfill!” I was deeply upset at being knocked off balance and losing precious time. As a result, I couldn’t work on this blog for a couple weeks.
I had a hard time understanding that people at risk for HD are just like anybody else. Then I remembered an at-risk friend who got breast cancer just before she started having HD symptoms. Being at risk for HD does not make me immune from the rest of life’s challenges.
Unable to dream of the future
With the help of a psychotherapist I struggle to keep juggling the many balls of my life as I face the inevitability of my symptoms. The pace grows ever faster, and I am frustrated that I don’t have another six hours each day.
I sometimes fantasize about how calm things would be if I were not hurtling ahead into Huntington’s disease. I could perhaps follow the natural rhythm of life, slowing down as I proceed into my fifties and look forward to retirement, my daughter’s college, and her wedding in my sixties.
But that’s where my imagination stops, because my mother started showing signs of HD in her late forties and had full-blown HD by her mid-fifties. The last ten years of her life she hardly spoke and eventually ended up in a wheelchair. By age 68, when she died, she was a mere shadow of herself.
She never really got to know her granddaughter. And now, because of my fear of following in my mother’s footsteps, I can’t even dream about the day my daughter will bring her own child into the world.
So instead of relaxing, I often accelerate my work with HDSA and my other projects. Every day I try to squeeze in as much life as possible.
The fight against HD often feels long and weary. My other passions and manias often help me escape the thought of HD. But they have often left me exhausted.
So, as I write this today, I start to focus on an important question: what should my most important legacy be? But before I even begin to answer this question, I need to catch my breath.
We are all in a race to death, but people at risk for life-shortening diseases know that their time to the finish line is painfully fast and troubled. In my case these feelings erupted to the surface of my being as I saw my mother in the devastating final stages of Huntington’s disease in 2005 and early 2006 (click here to read more). They intensified as I dealt with deep grief about her death and my future as an at-risk individual after attending her funeral in February 2006.
Since then I have increasingly thought of the acronym “HD” in a very different light. For me it stands not only for “Huntington’s disease,” but also for the fact that I am “hurtling towards death.”
I’ve been a workaholic and a perfectionist since childhood. I feel a fanatical urge to “get everything done” before I start having perceptible, debilitating symptoms. And lately the need to build a prominent legacy has consumed me.
Striving for efficiency
On the professional front, it’s not been enough for me to publish several respected books in my field. I strive for ways to liberate my creative activities in the same way that led Isaac Asimov to write hundreds of books.
At home and on the computer I am constantly responding to and/or saving the many e-mails I receive each day from four different accounts, and I am organizing our family papers into files and file boxes.
On the family front, I’ve been pushing my eight-year-old daughter to practice her piano as we prepare for our second annual piano-guitar duet next month. I pick her up from school three days a week and am in charge of the home for many hours, as my wife also works full time. I regularly have to stop myself from turning our relationship into yet another opportunity to value efficiency above all in my life.
My relationship with my wife has increasingly revolved around raising our daughter, as neither of us has relatives nearby to help with her care or to nurture family ties. As she finishes the third grade, planning for a possible transfer to private school – with her college education in mind – has taken on greater urgency.
We’ve also been spending lots of time and money remodeling our home, and, as I wrote recently (click here to read the entry), we’ve now taken on the building of a swimming pool. The pool will be an antidote to the hectic pace of our lives, but for now its construction is a new source of stress as we negotiate with contractors, watch our back yard turn into a massive hole, and put up with the din of machinery.
A decade of activism
Last month I completed eleven years as an activist for the local chapter of the Huntington’s Disease Society of America (HDSA). For seven of those years I wrote, edited, and published the chapter newsletter and participated in a plethora of other activities, from taking notes at board meetings and folding the newsletters to raising money and organizing meetings of HD advocates with California’s stem-cell oversight board in the quest for funding HD research.
My latest project was to oversee the overhaul of the chapter web site that I inaugurated in 2002. With limited funds and time, it was a time-consuming but rewarding task. This blog will now be published on the site too, and I will manage and edit the site and produce articles for it (click here to visit the site).
All of this frenetic activity has come to a head as I worry about the health of my father, a Huntington’s disease warrior who cared for my mother for 15 years and who has declined rapidly in the past few months (click here to read that entry).
HD people: like anybody else
Two weekends ago someone blind-sided my car, sending me to the hospital briefly and causing $3,000 in damage to my vehicle. I escaped with just a sore neck, but it was the first time I was involved in an accident. The shock left me emotionally paralyzed for the better part of a week, and the hassle of dealing with insurance companies, getting a rental car, and finding a repair shop threw off my focus.
“This can’t happen to me!” I angrily told myself. “I have HD to worry about! I have an agenda to meet and a mission to fulfill!” I was deeply upset at being knocked off balance and losing precious time. As a result, I couldn’t work on this blog for a couple weeks.
I had a hard time understanding that people at risk for HD are just like anybody else. Then I remembered an at-risk friend who got breast cancer just before she started having HD symptoms. Being at risk for HD does not make me immune from the rest of life’s challenges.
Unable to dream of the future
With the help of a psychotherapist I struggle to keep juggling the many balls of my life as I face the inevitability of my symptoms. The pace grows ever faster, and I am frustrated that I don’t have another six hours each day.
I sometimes fantasize about how calm things would be if I were not hurtling ahead into Huntington’s disease. I could perhaps follow the natural rhythm of life, slowing down as I proceed into my fifties and look forward to retirement, my daughter’s college, and her wedding in my sixties.
But that’s where my imagination stops, because my mother started showing signs of HD in her late forties and had full-blown HD by her mid-fifties. The last ten years of her life she hardly spoke and eventually ended up in a wheelchair. By age 68, when she died, she was a mere shadow of herself.
She never really got to know her granddaughter. And now, because of my fear of following in my mother’s footsteps, I can’t even dream about the day my daughter will bring her own child into the world.
So instead of relaxing, I often accelerate my work with HDSA and my other projects. Every day I try to squeeze in as much life as possible.
The fight against HD often feels long and weary. My other passions and manias often help me escape the thought of HD. But they have often left me exhausted.
So, as I write this today, I start to focus on an important question: what should my most important legacy be? But before I even begin to answer this question, I need to catch my breath.
Sunday, April 26, 2009
A Huntington's warrior lays down his shield
My father, who is 81 and ailing, was one of those unsung Huntington’s disease caregivers who quietly dedicate themselves to a spouse.
I think of him as a Huntington’s disease warrior.
No matter how bad my mother’s HD symptoms got, he met the challenge every day. He cared for her from the early 1990s until she went into a nursing home in the late summer of 2005, and he visited her at the home every day and fed her lunch until she breathed her last breath on February 13, 2006.
Complete dedication
In retrospect, my father might have learned more about HD and found many other ways to help my mother, but as a companion and caregiver in the home he was completely dedicated. As he watched HD inexorably destroy her body and mind, he gradually took over all the household responsibilities and stoically and lovingly saw to all of her needs. He got her up in the morning, dressed and groomed her, put on her lipstick, prepared three meals and spoon-fed her, assisted her in the bathroom, and bathed her.
My father told me once that she was the only woman he had ever slept with. Although he could be crotchety and domineering at times – what men in his generation weren’t? – he showed her unquestioning love and loyalty.
Whenever he went out, he took her along, no matter how long it might take to get her ready or how difficult it might be to get her in and out of the car. One image forever burned into my memory is of the two of them leaving a restaurant that had a heavy entrance door. As she shuffled her way through, with him trying to guide both her body and the door, she lost her balance. Her body swiveled and then flopped to the ground, thumping on its side like a wrestler knocked to the mat. In the final months, she was in a wheelchair.
My mother was only 68. Had it not been for HD, she might have lived well into her eighties, as had both her mother and maternal grandmother. And she could have helped care for my father, who was ten years older.
Signs of decline
In the last few years before her death, my father started to show some of the usual cognitive decline that comes with aging such as forgetfulness and confusion, but he kept both himself and my mother going.
Not long after she died, however, he told me, “It won’t be long before I follow your mother.”
My father had lost his reason for living. Last year, as his decline accelerated, he moved into an assisted living facility (click here to read my entry about the process).
Rapid descent
Since then, he has gone downhill even more rapidly. One day in late February he walked out of his room looking for my mother. The head caregiver had to take him aside for a long talk and explain patiently that his wife had died.
In March I flew to my hometown to spend a few days with him at the facility. He was in a so-called “memory care” unit for people with severe cognitive loss. He cannot leave the unit without a family member or caregiver.
It took my father a while to grasp fully that I was his son. He now has no memory of my mother’s death from Huntington’s disease. In fact, he no longer knows what HD is. Perhaps that is a blessing. Walking just a few yards tires him. Once it took him several minutes to lift himself up from the couch. I had to coax him to eat and drink.
Glimpse into the future
As I spent time with my father and tried to improve his care, I was reminded painfully of my mother’s demise. And I got a probable glimpse into my own future in a care facility if an effective treatment or cure for HD is not found soon. I tested positive for the HD genetic defect in 1999, and I am now at the very age when my mother’s symptoms started.
On April 18 my father became severely dehydrated and was admitted to a hospital. When I called on the phone, he could barely speak. On April 23 he was transferred to a rehabilitation facility, where physical, speech, and occupational therapists will attempt to revive his health to the point where he can return to the assisted living home.
I had a difficult time this past week thinking of my father. For a couple of nights I slept poorly because while I thought his death might be imminent.
A stroke and painful transitions
I’ve thought about how lonely it must be for my father in the rehab facility. The transitions have been many and brusque: from losing his wife to losing his car and home to losing now the last semblance of a home life, with yet another group of strangers in charge of his care. The rehab nurse told me on April 24 that he had trouble remembering his name and mentioned that his doctors had listed a stroke as a possible diagnosis.
Today my cousin and uncle visited my father and were told again that he had had a stroke. My cousin wrote in an e-mail: “I fed him a cup of ice cream. No way he could have fed himself.”
On the night of the 24th I opened several e-mails from the real estate agent hired to sell his condo so that he has sufficient funds to pay the very expensive monthly fee at the assisted living. In one of the messages, I clicked on a link that took me to a virtual tour of the one-floor condo, where my parents had moved when my mother’s symptoms made it too risky for her to continue in the split-level home where I grew up.
The video camera zooms in and out as it travels through each room of the condo. I can see the bathroom where they spent so much time together struggling to overcome what HD had done to my mother’s mind and body. I see the bedroom where he slept alone, the kitchen counter where he fed her, the family room where he spent countless hours reading the paper, watching TV, and talking to her as she sat silent and motionless in a chair.
I also see the bed where my mother slept – the bed where HD ravaged her brain. Whenever I visited my dad after my mother’s death, he offered that bed to me. I shuddered at the idea of lying down in the same spot where my mother slowly lost the last of her cognitive abilities. I could not bear to think that I might become like her. I refused to sleep there.
Watching the video was an eerie and completely unexpected experience. Nobody is in the picture, and some of the furniture is gone. Everything is tidy.
The cycle of life continues. The old Huntington’s disease warrior who fought so many battles for his beloved is now laying down his shield.
I think of him as a Huntington’s disease warrior.
No matter how bad my mother’s HD symptoms got, he met the challenge every day. He cared for her from the early 1990s until she went into a nursing home in the late summer of 2005, and he visited her at the home every day and fed her lunch until she breathed her last breath on February 13, 2006.
Complete dedication
In retrospect, my father might have learned more about HD and found many other ways to help my mother, but as a companion and caregiver in the home he was completely dedicated. As he watched HD inexorably destroy her body and mind, he gradually took over all the household responsibilities and stoically and lovingly saw to all of her needs. He got her up in the morning, dressed and groomed her, put on her lipstick, prepared three meals and spoon-fed her, assisted her in the bathroom, and bathed her.
My father told me once that she was the only woman he had ever slept with. Although he could be crotchety and domineering at times – what men in his generation weren’t? – he showed her unquestioning love and loyalty.
Whenever he went out, he took her along, no matter how long it might take to get her ready or how difficult it might be to get her in and out of the car. One image forever burned into my memory is of the two of them leaving a restaurant that had a heavy entrance door. As she shuffled her way through, with him trying to guide both her body and the door, she lost her balance. Her body swiveled and then flopped to the ground, thumping on its side like a wrestler knocked to the mat. In the final months, she was in a wheelchair.
My mother was only 68. Had it not been for HD, she might have lived well into her eighties, as had both her mother and maternal grandmother. And she could have helped care for my father, who was ten years older.
Signs of decline
In the last few years before her death, my father started to show some of the usual cognitive decline that comes with aging such as forgetfulness and confusion, but he kept both himself and my mother going.
Not long after she died, however, he told me, “It won’t be long before I follow your mother.”
My father had lost his reason for living. Last year, as his decline accelerated, he moved into an assisted living facility (click here to read my entry about the process).
Rapid descent
Since then, he has gone downhill even more rapidly. One day in late February he walked out of his room looking for my mother. The head caregiver had to take him aside for a long talk and explain patiently that his wife had died.
In March I flew to my hometown to spend a few days with him at the facility. He was in a so-called “memory care” unit for people with severe cognitive loss. He cannot leave the unit without a family member or caregiver.
It took my father a while to grasp fully that I was his son. He now has no memory of my mother’s death from Huntington’s disease. In fact, he no longer knows what HD is. Perhaps that is a blessing. Walking just a few yards tires him. Once it took him several minutes to lift himself up from the couch. I had to coax him to eat and drink.
Glimpse into the future
As I spent time with my father and tried to improve his care, I was reminded painfully of my mother’s demise. And I got a probable glimpse into my own future in a care facility if an effective treatment or cure for HD is not found soon. I tested positive for the HD genetic defect in 1999, and I am now at the very age when my mother’s symptoms started.
On April 18 my father became severely dehydrated and was admitted to a hospital. When I called on the phone, he could barely speak. On April 23 he was transferred to a rehabilitation facility, where physical, speech, and occupational therapists will attempt to revive his health to the point where he can return to the assisted living home.
I had a difficult time this past week thinking of my father. For a couple of nights I slept poorly because while I thought his death might be imminent.
A stroke and painful transitions
I’ve thought about how lonely it must be for my father in the rehab facility. The transitions have been many and brusque: from losing his wife to losing his car and home to losing now the last semblance of a home life, with yet another group of strangers in charge of his care. The rehab nurse told me on April 24 that he had trouble remembering his name and mentioned that his doctors had listed a stroke as a possible diagnosis.
Today my cousin and uncle visited my father and were told again that he had had a stroke. My cousin wrote in an e-mail: “I fed him a cup of ice cream. No way he could have fed himself.”
On the night of the 24th I opened several e-mails from the real estate agent hired to sell his condo so that he has sufficient funds to pay the very expensive monthly fee at the assisted living. In one of the messages, I clicked on a link that took me to a virtual tour of the one-floor condo, where my parents had moved when my mother’s symptoms made it too risky for her to continue in the split-level home where I grew up.
The video camera zooms in and out as it travels through each room of the condo. I can see the bathroom where they spent so much time together struggling to overcome what HD had done to my mother’s mind and body. I see the bedroom where he slept alone, the kitchen counter where he fed her, the family room where he spent countless hours reading the paper, watching TV, and talking to her as she sat silent and motionless in a chair.
I also see the bed where my mother slept – the bed where HD ravaged her brain. Whenever I visited my dad after my mother’s death, he offered that bed to me. I shuddered at the idea of lying down in the same spot where my mother slowly lost the last of her cognitive abilities. I could not bear to think that I might become like her. I refused to sleep there.
Watching the video was an eerie and completely unexpected experience. Nobody is in the picture, and some of the furniture is gone. Everything is tidy.
The cycle of life continues. The old Huntington’s disease warrior who fought so many battles for his beloved is now laying down his shield.
Sunday, April 19, 2009
Our economic comeback and the cure industry
As the unemployment lines grow and our economic crisis deepens, America’s leadership of the world comes into question. Can a country that literally gambled on its financial future make a comeback?
Bankers, business people, and politicians must honestly correct the mistakes that took us to the brink of financial collapse.
But America also needs to plan for the future in a way that renews our leadership and inspires confidence.
President Barack Obama has spoken frequently of rebuilding the nation’s infrastructure and developing green technologies that make us less dependent on oil and other pollutants. The government has already committed massive sums to these goals.
The president has also identified health care reform as essential for our future. There is huge potential in this area, but in order to realize it, but we need to look at health care in a new way.
From innovation to obesity
For a long time, we Americans were a nation of innovators. From people who tinkered in the garage at night to the great inventors and scientists working in the world’s best laboratories, we created a cornucopia of new products and solved a myriad of problems. Flash of Genius, a movie released in 2008, captures the spirit of individual creativity still present in the 1950s and 1960s. Americans always had a “can do” attitude. No challenge seemed insurmountable.
But as the also film shows, large corporations helped snuff out that spirit.
And our wealth went to our heads, making us complacent, arrogant, and, in many cases, literally obese. Like the people in the animated film Wall-E, which I watched recently with my eight-year-old daughter, we have moved into an oasis built on ignorance and a total disconnect from reality.
Instead of innovating and producing, we became a service economy dominated by the financial sector. We have been living off the fat of the land.
In a world where so much of our work has been outsourced to China, India, and elsewhere, what will there be left for America to do? Will we become, as one influential congressman once sarcastically declared, a nation where everybody just delivers pizza to one another? How can we possibly lead the world again with vigor and vision?
A new industry
One way is to use our ingenuity to create new products that the whole world will want to buy. In the past we did this with cars, airplanes, computers, and a whole assortment of other inventions and goods that people everywhere wanted.
This new array of “products” should be treatments and cures for diseases and the procedures and medications that go along with them.
While much of the debate about our health care system promises to follow the old paradigm of public versus private, American versus European, we need to expand our vision of health care to include a cure industry. In this broader view health care is not a drain on society, as it is currently seen, but the motor that generates new wealth.
Thus the president and our leaders need to expand our vision of health care beyond the idea of simply controlling costs.
Seeking the end of disease
America’s call to action today should focus on the elimination of disease.
America proclaimed a war on poverty and another one against drugs. What we need now is a mission to find treatments and cures for all diseases.
Strangely, no leader in more than a generation has stepped forth to declare a campaign against disease, even when we had federal budget surpluses and a booming economy in the 1990s.
To carry out this mission, we need once again the same "can do" spirit that brought us the Marshall Plan, the construction of the Interstate Highway System, and the Apollo space project. And we need a new generation of tinkerers and dreamers to provide the solutions.
Our leaders need to help create this vision by focusing on what has always been America’s great plan: the pursuit of a quality life for all people.
Leadership and accountability
Sadly, in our recent history the presidency has meant a flight from leadership rather than the willingness to assume it bravely. President Bill Clinton squandered the opportunities of the post-Cold War peace dividend and, instead of resigning in the wake of the Monica Lewinsky affair, stayed on and devalued the office. Instead of calling Americans to volunteer for the armed forces or other new initiatives after the 9/11 attacks, President George W. Bush sheepishly asked Americans to shop and take a vacation.
Focused as they are on the economy, President Obama and our legislators should boldly announce a plan to eradicate diseases, from AIDS to Huntington’s. Our university laboratories, biotech companies, and pharmaceutical industry should collaborate to invent new treatments and drugs that will form the next generation of products “made in America” and desired around the world.
Educators and government officials at all levels must rekindle our youths’ interest in science, math, and engineering, so that a new generation of Americans can take charge of the cure industry and pursue many other worthy goals in the fields of science and technology.
Public-private partnership will be crucial in this initiative, as it was in so many of the great achievements of our past. This will require greater accountability and productivity on both the part of government and industry and especially of the National Institutes of Health and the large pharmaceutical companies, both of which have suffered a loss of prestige in recent years. All the players involved need to be more agile and innovative.
This new mission will require us to retool America economically and morally. And, instead of borrowing our way out of our economic crisis, it provides a way to create our way out.
Bankers, business people, and politicians must honestly correct the mistakes that took us to the brink of financial collapse.
But America also needs to plan for the future in a way that renews our leadership and inspires confidence.
President Barack Obama has spoken frequently of rebuilding the nation’s infrastructure and developing green technologies that make us less dependent on oil and other pollutants. The government has already committed massive sums to these goals.
The president has also identified health care reform as essential for our future. There is huge potential in this area, but in order to realize it, but we need to look at health care in a new way.
From innovation to obesity
For a long time, we Americans were a nation of innovators. From people who tinkered in the garage at night to the great inventors and scientists working in the world’s best laboratories, we created a cornucopia of new products and solved a myriad of problems. Flash of Genius, a movie released in 2008, captures the spirit of individual creativity still present in the 1950s and 1960s. Americans always had a “can do” attitude. No challenge seemed insurmountable.
But as the also film shows, large corporations helped snuff out that spirit.
And our wealth went to our heads, making us complacent, arrogant, and, in many cases, literally obese. Like the people in the animated film Wall-E, which I watched recently with my eight-year-old daughter, we have moved into an oasis built on ignorance and a total disconnect from reality.
Instead of innovating and producing, we became a service economy dominated by the financial sector. We have been living off the fat of the land.
In a world where so much of our work has been outsourced to China, India, and elsewhere, what will there be left for America to do? Will we become, as one influential congressman once sarcastically declared, a nation where everybody just delivers pizza to one another? How can we possibly lead the world again with vigor and vision?
A new industry
One way is to use our ingenuity to create new products that the whole world will want to buy. In the past we did this with cars, airplanes, computers, and a whole assortment of other inventions and goods that people everywhere wanted.
This new array of “products” should be treatments and cures for diseases and the procedures and medications that go along with them.
While much of the debate about our health care system promises to follow the old paradigm of public versus private, American versus European, we need to expand our vision of health care to include a cure industry. In this broader view health care is not a drain on society, as it is currently seen, but the motor that generates new wealth.
Thus the president and our leaders need to expand our vision of health care beyond the idea of simply controlling costs.
Seeking the end of disease
America’s call to action today should focus on the elimination of disease.
America proclaimed a war on poverty and another one against drugs. What we need now is a mission to find treatments and cures for all diseases.
Strangely, no leader in more than a generation has stepped forth to declare a campaign against disease, even when we had federal budget surpluses and a booming economy in the 1990s.
To carry out this mission, we need once again the same "can do" spirit that brought us the Marshall Plan, the construction of the Interstate Highway System, and the Apollo space project. And we need a new generation of tinkerers and dreamers to provide the solutions.
Our leaders need to help create this vision by focusing on what has always been America’s great plan: the pursuit of a quality life for all people.
Leadership and accountability
Sadly, in our recent history the presidency has meant a flight from leadership rather than the willingness to assume it bravely. President Bill Clinton squandered the opportunities of the post-Cold War peace dividend and, instead of resigning in the wake of the Monica Lewinsky affair, stayed on and devalued the office. Instead of calling Americans to volunteer for the armed forces or other new initiatives after the 9/11 attacks, President George W. Bush sheepishly asked Americans to shop and take a vacation.
Focused as they are on the economy, President Obama and our legislators should boldly announce a plan to eradicate diseases, from AIDS to Huntington’s. Our university laboratories, biotech companies, and pharmaceutical industry should collaborate to invent new treatments and drugs that will form the next generation of products “made in America” and desired around the world.
Educators and government officials at all levels must rekindle our youths’ interest in science, math, and engineering, so that a new generation of Americans can take charge of the cure industry and pursue many other worthy goals in the fields of science and technology.
Public-private partnership will be crucial in this initiative, as it was in so many of the great achievements of our past. This will require greater accountability and productivity on both the part of government and industry and especially of the National Institutes of Health and the large pharmaceutical companies, both of which have suffered a loss of prestige in recent years. All the players involved need to be more agile and innovative.
This new mission will require us to retool America economically and morally. And, instead of borrowing our way out of our economic crisis, it provides a way to create our way out.
Saturday, April 11, 2009
A holiday message: hope for the forsaken of Huntington’s
Growing up Catholic, I was always both bewildered and impressed by Jesus’s words on the cross on Good Friday: “My God, my God, why have you forsaken me?”
I wondered: why would God the Father – Jesus’s own father! – abandon his son? At that moment, dying for all of humankind, Jesus hung on the cross in utter loneliness.
As I have contemplated Passover, Holy Week, and Easter in light of my gene-positive status for Huntington’s, it struck me that HD patients and their caregivers must often feel just as forsaken in their daily struggles against this condition that destroys the brain.
Bearing burdens
After writing about my family’s decision to borrow money for us to build and enjoy a swimming pool while I am still healthy (click here to read the entry), I received an e-mail from a caregiver. Her husband died young of HD, and her adult daughter now has the disease.
“I am wide awake at 3:26 a.m.,” she wrote in telling me of her many burdens and reminding me of the many nights my wife has lost sleep in worrying about my health. She continued, “I don’t think there is anything as ugly as HD. Satan did a good job creating this one! If I could only stop, for just a day.” But she didn’t give up and has started a Huntington’s disease support group.
This past week I also met a brave woman, Missy, through WeAreHD.org (the Social Support Network of Huntington’s Disease). Her late husband had been diagnosed with HD when she was eight weeks pregnant with their second child.
Men usually pass on HD in a far worse form than women, and this also results in their children getting the disease much earlier. The father died in November 2007. Only two months later, the couple’s oldest child, Jordan, was diagnosed with juvenile Huntington’s disease. Now 13, Jordan already experiences the involuntary movements, known as chorea, that ultimately stop HD people from working and walking.
I was shocked to read that Jordan has 73 CAG repeats. (Everybody has the huntingtin gene, but the repeats of the CAG trinucleotide are normally no higher than 30.) I have 40 and am on the cusp of what is defined as HD. The number 73 is phenomenally high. In general, the higher the number of repeats, the earlier onset will occur and the more severe the disease will become. That’s why Jordan is already so deeply affected.
Here is how Missy describes her daughter’s symptoms on her page at WeAreHD.org: “twitching, choking, decline in school work, abnormal gait, decline in speech, some falling, mild depression, some memory loss. Dementia is starting to come into play.”
Missy urged us to get our pool and enjoy our time together. She told me how Jordan had an easier time with mobility when she entered a pool in Florida during a trip away from the family’s home state of Wyoming.
I was deeply moved by the image of a young person being struck down by HD just as she was beginning the transition to full awareness about her body, her surroundings, and her life. I thought of her enjoying the warm water of the pool despite the curse of Huntington’s.
Feeling abandoned
And I wondered how forsaken she must sometimes feel. Where was the God of the Passover who spared the first-born of the Israelites while ravaging the households of the sinful Egyptians?
On Good Friday I listened to one friend tell of another’s struggle to deal with a recent and rapid onset of multiple sclerosis. Like HD, MS is a disease of the central nervous system. Our friend is having spasticity (impairment of the muscles). She is only in her forties but could be relying on a wheelchair in as few as seven years.
Thinking of my own mother’s death because of HD three years ago, I could not bear to listen to our friend’s plight and had to turn away. How long will it be before I start to show symptoms and lose the ability to walk, talk, swallow, and think?
I too felt forsaken.
But, according to the Bible, God delivered the Israelites to the Promised Land.
And less than three days after Christ died on the cross, He rose from the dead.
Finding hope
The Passover and Christ’s Resurrection are two of the most unbelievable stories ever told. Through the centuries, these stories have motivated billions of believers in numerous religious traditions. Today many people still believe in the literal intervention of God on behalf of the Israelites and in the Resurrection. Others are indifferent or discount these stories as superstition.
They are undeniably stories of salvation that all people can relate to. An overburdened caregiver’s attention to the sick is akin to the men carrying the dead Jesus to the tomb. The yearning for a cure for a girl with juvenile Huntington’s is like the hope of the Israelites in Egypt.
What human being has not struggled with the inevitability of death? Families struck with Huntington’s feel it all too soon and all too poignantly. But, as Jesus exhorted people to do, Huntington’s families take up their cross and move on with life.
The Promised Land and the Resurrection are their hope – a land and an existence enjoyed with the fullness of life and without twitching, choking, depression, or dementia.
The prophets and Jesus asked their followers to believe in the possibility of such a life. In effect, they asked people to believe in the seemingly impossible. Today, scientists are making immense strides in finding treatments and perhaps even a cure for a disease that not so long ago seemed incurable. Like the faithful of the past, Huntington’s disease families can persevere if they’re willing to believe in the possibility of the cure and dedicate themselves – no matter how modestly – to the cause.
I wondered: why would God the Father – Jesus’s own father! – abandon his son? At that moment, dying for all of humankind, Jesus hung on the cross in utter loneliness.
As I have contemplated Passover, Holy Week, and Easter in light of my gene-positive status for Huntington’s, it struck me that HD patients and their caregivers must often feel just as forsaken in their daily struggles against this condition that destroys the brain.
Bearing burdens
After writing about my family’s decision to borrow money for us to build and enjoy a swimming pool while I am still healthy (click here to read the entry), I received an e-mail from a caregiver. Her husband died young of HD, and her adult daughter now has the disease.
“I am wide awake at 3:26 a.m.,” she wrote in telling me of her many burdens and reminding me of the many nights my wife has lost sleep in worrying about my health. She continued, “I don’t think there is anything as ugly as HD. Satan did a good job creating this one! If I could only stop, for just a day.” But she didn’t give up and has started a Huntington’s disease support group.
This past week I also met a brave woman, Missy, through WeAreHD.org (the Social Support Network of Huntington’s Disease). Her late husband had been diagnosed with HD when she was eight weeks pregnant with their second child.
Men usually pass on HD in a far worse form than women, and this also results in their children getting the disease much earlier. The father died in November 2007. Only two months later, the couple’s oldest child, Jordan, was diagnosed with juvenile Huntington’s disease. Now 13, Jordan already experiences the involuntary movements, known as chorea, that ultimately stop HD people from working and walking.
I was shocked to read that Jordan has 73 CAG repeats. (Everybody has the huntingtin gene, but the repeats of the CAG trinucleotide are normally no higher than 30.) I have 40 and am on the cusp of what is defined as HD. The number 73 is phenomenally high. In general, the higher the number of repeats, the earlier onset will occur and the more severe the disease will become. That’s why Jordan is already so deeply affected.
Here is how Missy describes her daughter’s symptoms on her page at WeAreHD.org: “twitching, choking, decline in school work, abnormal gait, decline in speech, some falling, mild depression, some memory loss. Dementia is starting to come into play.”
Missy urged us to get our pool and enjoy our time together. She told me how Jordan had an easier time with mobility when she entered a pool in Florida during a trip away from the family’s home state of Wyoming.
I was deeply moved by the image of a young person being struck down by HD just as she was beginning the transition to full awareness about her body, her surroundings, and her life. I thought of her enjoying the warm water of the pool despite the curse of Huntington’s.
Feeling abandoned
And I wondered how forsaken she must sometimes feel. Where was the God of the Passover who spared the first-born of the Israelites while ravaging the households of the sinful Egyptians?
On Good Friday I listened to one friend tell of another’s struggle to deal with a recent and rapid onset of multiple sclerosis. Like HD, MS is a disease of the central nervous system. Our friend is having spasticity (impairment of the muscles). She is only in her forties but could be relying on a wheelchair in as few as seven years.
Thinking of my own mother’s death because of HD three years ago, I could not bear to listen to our friend’s plight and had to turn away. How long will it be before I start to show symptoms and lose the ability to walk, talk, swallow, and think?
I too felt forsaken.
But, according to the Bible, God delivered the Israelites to the Promised Land.
And less than three days after Christ died on the cross, He rose from the dead.
Finding hope
The Passover and Christ’s Resurrection are two of the most unbelievable stories ever told. Through the centuries, these stories have motivated billions of believers in numerous religious traditions. Today many people still believe in the literal intervention of God on behalf of the Israelites and in the Resurrection. Others are indifferent or discount these stories as superstition.
They are undeniably stories of salvation that all people can relate to. An overburdened caregiver’s attention to the sick is akin to the men carrying the dead Jesus to the tomb. The yearning for a cure for a girl with juvenile Huntington’s is like the hope of the Israelites in Egypt.
What human being has not struggled with the inevitability of death? Families struck with Huntington’s feel it all too soon and all too poignantly. But, as Jesus exhorted people to do, Huntington’s families take up their cross and move on with life.
The Promised Land and the Resurrection are their hope – a land and an existence enjoyed with the fullness of life and without twitching, choking, depression, or dementia.
The prophets and Jesus asked their followers to believe in the possibility of such a life. In effect, they asked people to believe in the seemingly impossible. Today, scientists are making immense strides in finding treatments and perhaps even a cure for a disease that not so long ago seemed incurable. Like the faithful of the past, Huntington’s disease families can persevere if they’re willing to believe in the possibility of the cure and dedicate themselves – no matter how modestly – to the cause.
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