In the past few years, scientists have made huge strides towards treating and perhaps even controlling Huntington’s disease, whose killer gene inhabits every cell of my body. While scientists scrupulously avoid providing false hope, even the most pessimistic among them now talk of “when” a treatment or treatments will come, not “if,” as international HD spokesperson Charles Sabine observed last October at the annual Huntington’s Study Group conference in San Diego, CA.
That’s enormous progress, compared to a decade ago, when practically no pharmaceutical companies showed interest in HD.
But this is no time for complacency. On the contrary, as labs ramp up for potential clinical trials to test the first group of the 700-plus potential “drug targets” for HD, many daunting challenges and tasks remain.
I plan to deliver this message in a speech this coming Saturday, July 30, at the 2011 Inaugural Clinical Research Symposium of the Northwest Chapter of the Huntington’s Disease Society of America (HDSA) at Evergreen Hospital Medical Center in Seattle, WA (click here for the program). The speech will be titled “What HD Families Should Know about Clinical Trials: Initial Thoughts from a Gene-Positive Activist.”
The clinical trial administrators will need a large number of symptomatic people to participate, ranging from 20 to as many as a couple thousand people per drug. With only 30,000 people in the entire U.S. affected by HD, it may prove impossible to fill the numerous spots in the trials.
That is why CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative,” has inaugurated Enroll-HD, the first-ever worldwide database of at-risk, gene-positive, and HD-affected people, in order to expand the base of possible trial participants.
All must chip in
As advocates like Charles and me have pointed out, those active in organizations such as the Huntington’s Disease Society of America (HDSA) can no longer limit our focus to fund-raising. At-risk, gene-positive, and affected people must also collaborate with the researchers and physicians in the process of planning and implementing the trials.
Preparing for potential trials requires that we care for our health as much as possible.
And, as I wrote in 2009, the untested in our community, who constitute a majority of the at-risk, need to muster the courage to learn their status. With the hope of treatments, refusing testing makes less and less sense. And, if people don’t get tested, they can’t participate in a trial.
In short, if we all don’t chip in, treatments won’t be found.
The painful barrier of denial
Chances are, if you read this blog, you already agree with this outlook. You’re probably active in the HD effort in some way. So, as they say, I’m preaching to the choir.
We need to reach out to those in the community who shun involvement, usually out of fear, and sometimes out of ignorance.
I know all too painfully how denial works.
My mother Carol died of HD in 2006 after battling HD for nearly two decades. Her at-risk, untested brother and his wife hid the truth about her disease from their children and their families by attributing Mom’s symptoms to “mental problems.”
A split family
I am also estranged from my own sister, the untested mother of three at-risk, untested adult sons whom she conceived before my mother’s diagnosis. She prefers to do nothing, because she does not believe, or is unaware, that there is hope. She is completely uninterested in advocacy, research, and trials.
As a gene-positive activist, I personify the knife-edge of HD for my family. My sister became especially uncooperative after the birth of our “miracle baby,” who tested negative in the womb. My sister was jealous for two reasons: we had a daughter, and she was HD-free.
In reading this description of my own family, many will knowingly nod in agreement. Denial is powerful, and it is everywhere. Combined with the sorrow, frustration, anger, and fear provoked by HD, it splits families apart.
I have fought back against the threat of HD by participating in numerous observational trials and advocating for the cause.
But I have yet to figure out a way to involve family members so deeply in denial – and so angry at me whenever I raised the issue of HD, directly or indirectly.
Living by example
As Charles observed, it will be truly tragic if people are not ready for clinical trials.
But we must not give up. Through this blog and my activism I have met many people new to HD and looking for ways to help. We need to welcome these individuals and their families with the greatest of attention – and love.
And we must live by example, because, in the end, our actions will carry far more weight than our words.
Defining success together
The HD community also can participate actively in the clinical trial process by helping researchers, physicians, drug makers, and the federal Food and Drug Administration (FDA) define a successful drug and how to measure that success.
HD causes a triad of symptoms: motor (shaking known as chorea and problems with coordination), cognitive (memory and mental abilities), and psychiatric (emotional disturbances). For a long time, scientists have spoken of the need for a “cocktail” of drugs to combat the triad and their numerous causes in the brain and brain cells.
So far, only one HD drug – tetrabenazine – has received FDA approval. Marketed by Lundbeck as Xenazine, this medication reduces chorea but does not affect the causes of HD.
The new generation of drug targets would indeed attack the causes. Researchers and drug makers theorize and hope that these targets would improve or perhaps even eliminate particular symptoms, but many of these new kinds of drugs represent uncharted scientific territory. Until the trials get underway, nobody will know how patients will respond.
So, even before trials start, patients must help define specific outcomes for the trials.
Maintaining functionality and personality
During the question-and-answer session after my May 17, 2011, speech at Alnylam Pharmaceuticals, I outlined what I thought were signs of success.
“From my standpoint, wow, maybe I will never have symptoms of Huntington’s disease,” I said in reflecting on the proposed Alnylam RNA interference drug, intended to attack the disease at its genetic roots and possibly ready for a Phase I trial as early as 2012. “That would be my hope as a patient.
“For the longest time, it’s like, ‘Well, you’re going to get sick.’ The question is: ‘When are you going to get sick? And how sick are you going to get? And what can you take to stop it?’…
That response came from my individual perspective as a gene-positive, asymptomatic individual – what the scientists refer to as the “presymptomatic” stage of HD.
But I also gave my opinion as to what symptomatic HD patients might want from a drug. I thought of my mother, who had been reduced to a “mere shadow of herself.”
We need drugs that will help people maintain their “basic functionality” and personalities. A bit of chorea would probably be acceptable as long as a person retains his or her mind and can go to work, I said.
“People want to keep their personality with this disease,” I said. “They want to be recognized as individuals. They don’t want to be seen as sick; they don’t want to be seen as drunk; they don’t want to be seen as disabled individuals.”
But I’m just one voice. More people need to give their opinions on this still very open question.
Strengthening the patient-researcher bond
As is often the case, I have only just scratched the surface of one of the many issues surrounding Huntington’s disease.
It’s clear that we all need to educate ourselves about the kinds of medicines under consideration and how they might affect the disease.
I hope to do my small part at the Seattle symposium. Across the country, our community needs more events such as this.
But in addition to speaking, I want to brainstorm with the audience about the definition of pharmaceutical success and absorb the other speakers’ ideas about clinical trials.
The HD community has a long reputation as one in which patients and researchers collaborate effectively. Now, as we get ready for historic clinical trials, we need to further strengthen that crucial bond.
Thursday, July 28, 2011
Friday, July 08, 2011
Some reflections on being named 'HDSA Person of the Year'
With a feeling of great humility and immense responsibility I received the news that the Huntington’s Disease Society of America (HDSA), at its national convention on June 25 in Minneapolis, had named me the 2011 HDSA Person of the Year.
As I wrote here on June 21, I was excited about attending an HDSA convention for the very first time. Alas, that same day I came down with a fever and nasty sinus infection and could not travel.
I did not know about the award. At home recovering, I happened to check e-mail on the night of the 25th. I was stunned! Several messages stated that I was receiving the award and that the announcement prompted a standing ovation. (A record 1,000-plus people attended the convention.)
Don Barr, the chairman of the HDSA Board of Trustees, and Louise Vetter, CEO, presented the plaque, accepted in my absence by trustee Rob Millum, my friend and also a member of the HDSA-San Diego board.
An award for inspiration
HDSA gives this award “to someone who has been an inspiration to others,” Barr told the audience at the HDSA closing ceremony. He noted my work as a member of the HDSA-San Diego board, gene-positive blogger, stem-cell research advocate, and speaker at biotech companies.
Convention participants at the closing ceremony (photo by Ashley Miller)
Leadership takes place on many levels and in many venues of life: family, work, community, religious organization, advocacy, and politics.
Everybody can lead in his or her own unique way. All of us in the HD community must play our part to strengthen our movement.
I’ll be with you, shoulder-to-shoulder, as we work for better care and seek the cure.
As I wrote here on June 21, I was excited about attending an HDSA convention for the very first time. Alas, that same day I came down with a fever and nasty sinus infection and could not travel.
I did not know about the award. At home recovering, I happened to check e-mail on the night of the 25th. I was stunned! Several messages stated that I was receiving the award and that the announcement prompted a standing ovation. (A record 1,000-plus people attended the convention.)
Don Barr, the chairman of the HDSA Board of Trustees, and Louise Vetter, CEO, presented the plaque, accepted in my absence by trustee Rob Millum, my friend and also a member of the HDSA-San Diego board.
An award for inspiration
HDSA gives this award “to someone who has been an inspiration to others,” Barr told the audience at the HDSA closing ceremony. He noted my work as a member of the HDSA-San Diego board, gene-positive blogger, stem-cell research advocate, and speaker at biotech companies.
Above, Don Barr (left), Rob Millum, and Louise Vetter with my plaque (photo by Ashley Miller). Below, a detail of the plaque (click on image to see larger view) (photo by Gene Veritas).
Barr stated that I had “given a face to this often faceless disease” and “inspired countless individuals who are at risk or gene-positive to express themselves without fear and to let them know that they are not alone in the face of HD.”
For those who fight
Shana Martin, the HD activist, top athlete, and model, posted a note of congratulations on my Facebook page, as did friends and acquaintances in the HD community.
“I am stunned and flattered to receive this recognition, and sad that, because of illness, I could not attend the convention,” I responded to these notes. “I want to remember my mom Carol, who died of HD in 2006, and my ‘HD warrior’ father Paul, her caregiver, who died in 2009. The honor is for the battle they fought – and for the battle that our entire community fights each day.”
On that night, I deeply missed Mom and Dad. They would have been proud of me. I felt sorrow that the collective efforts of HDSA, researchers, and advocates like me had not produced a treatment in time to save Mom, who died at the age of 68 after battling HD for more than 15 years.
My parents, Paul and Carol, in January of 2004 (photo by Gene Veritas)
I know, too, that this award is not just for me, but for everybody affected by HD: the at-risk, the gene-positive, the symptomatic, the families, and the unsung heroes of America, the caregivers.
And I have huge shoes to fill in the HDSA Person of the Year tradition, which stretches back more than ten years.
Here’s a list of past awardees, in reverse chronological order: 2010, Katie Moser; 2009, Kris O’Brien; 2008, Bob Leck; 2007, Frank Hiscock; 2006, Gary Nash; 2005, Bruce Veneklase; 2004, Bryan Medrano; 2003, Karen Milek; 2002, Gary Elliott; 2001, Phil Hardt; 2000, Marc Church.
A new departure
For me, the Person of the Year Award is not an endpoint, but a new jumping off point.
As Don Barr noted in making the presentation, I long worked behind the scenes for the HD cause. In 2010 and 2011, however, I began exiting the “HD closet” by giving several speeches, going on the radio, and posting videos of myself on the web.
I hope to use the award’s prestige to build even greater awareness about HD and to encourage the research community to redouble its efforts in the search for treatments and a cure.
I especially hope that I can use this award to combat the stigma surrounding HD and other neurological diseases.
Time for leadership
I’ve reached a stage in the cause, and in my life as a gene-positive person, when I must exercise leadership.
I must get back in the HD trenches to continue my fight as before. I cannot shy away from new challenges such as the need to help prepare the HD community for potential clinical trials for the possible drugs now in development in labs. (On July 30, I’ll be speaking on this topic at an HDSA symposium in Seattle.)
Convention participants at the closing ceremony (photo by Ashley Miller)Leadership takes place on many levels and in many venues of life: family, work, community, religious organization, advocacy, and politics.
Everybody can lead in his or her own unique way. All of us in the HD community must play our part to strengthen our movement.
I’ll be with you, shoulder-to-shoulder, as we work for better care and seek the cure.
Tuesday, June 21, 2011
Face to face at the Huntington's disease convention
I’ve known about Huntington’s disease ever since my mother’s diagnosis in 1995. For just about as long, I’ve been affiliated with the Huntington’s Disease Society of America (HDSA). I joined the HDSA-San Diego support group in 1996 and served on the chapter board from 1998 to 2010. Last month I visited HDSA national headquarters in New York, where I gave an informal talk to the staff about my struggles as a person who is gene-positive for the disease.
Still, work and travel commitments have prevented me from ever participating in the organization’s annual convention.
That’s about to change this coming Thursday, June 23, as I travel to Minneapolis for the 26th annual convention, held at the Sheraton Bloomington Hotel.
A record 1,000-plus registered individuals are expected to attend. I am looking forward to meeting people from other HD-affected families, brainstorming on how to strengthen our cause, and sitting in on several workshops and other activities scheduled for the June 24-25 agenda. Among others, these include explanations of the disease, caregiving issues, advocacy, and a major session on the latest research developments. (Click here for a complete list.)
It should also prove highly rewarding – and hopefully plain fun, also! – to solidify some of the many online friendships I have developed over the years through this blog and my presence on Facebook.
A pivotal year
I’m bracing myself emotionally for what should be a very poignant experience.
In June I normally visit Brazil to conduct research as a professional historian. However, for the first time in a quarter century, I am skipping my annual visit to the country that is my second home and the birthplace of my wife. (She and our HD-free ten-year-old daughter arrived in Rio de Janeiro last Saturday after we spent a short vacation together in Florida visiting the Harry Potter theme park at Universal Orlando.)
This leaves me sad and reminds me once more of how HD has stolen many of our dreams as a family.
It also symbolizes the big shift in my life as I more carefully focus my efforts to help scientists in their quest for treatments and a cure.
In that respect, this year has become pivotal. On February 7 I delivered the keynote address to some 250 scientists, physicians, pharmaceutical company representatives, and others at the 6th Annual HD Therapeutics Conference in Palm Springs, CA, on February 7. On May 17 I gave a similar presentation to about 50 scientists at Alnylam Pharmaceuticals in Cambridge, MA, and held a sample of the company’s potential drug in my hand.
At the HDSA convention on June 25 I’ll take part in the traditional candle service, where representatives of the community light candles for the various groups within the HD community. My candle will represent “the hope of people living with HD.”
For me, this will be a great moment of solidarity. I will also be thinking of my mother, who died of HD in February 2006.
I know, too, that I’ll probably see scores of HD people – each one a reminder of my future as I await the inevitable onset of symptoms that characterizes HD.
Is a convention necessary?
Echoing the critical remark I read on Facebook yesterday, some might question the wisdom of holding a convention when so many HD families are in dire need. Attending a convention is beyond their means financially and/or logistically. They need help in the HD trenches.
Indeed, last month I wrote a blog article titled “S.O.S. for Huntington’s disease families." The article discussed the loss of income and extremely burdensome caregiving costs faced by these families. The demand for assistance far exceeds what HDSA can provide with its $8 million annual budget.
HD families should always question the goals and activities of the organization. Indeed, they are the organization. Only in this manner can our organization improve.
Over the years I have attended conventions and meetings of various kinds for professional or other reasons. Conventions are only as good as the people who attend and the ideas they contribute.
I am looking forward to the HDSA convention, because, in addition to the reasons I outlined above, it will provide me with the opportunity to meet people face-to-face, to see their body language, to build trust and camaraderie, and to exchange ideas freely.
I believe that this kind of contact can reinforce teamwork and strengthen our movement. Hopefully it can also bolster our hearts and souls.
As always, I’ll have my camera, voice recorder, and camcorder in hand to capture some of the highlights of the convention, and I’ll be blogging on the results upon my return.
* * *
Speaking of conventions, it’s time to sign up for the World Congress on Huntington’s Disease, to be held in Melbourne, Australia, from September 11-14. Interested scientists and members of the HD community can obtain more information about this all-important event by clicking here.
* * *
In my last article, “The Huntington’s disease high-wire act,” I neglected to mention that a book with a similar title, On a High Wire, Without a Net! Living with Huntington’s Disease was published in 2009 by HD activist and writer Susan E. Lawrence. Susan also wrote Sheltered from the Storm: Preparing for the HD Onset. Both books are valuable resources for our community.
* * *
This is my 101st posting in this blog! I began At Risk for Huntington’s Disease in January 2005. Let us all hope that sometime within the next 100 postings we can celebrate a major breakthrough towards a treatment for HD.
Still, work and travel commitments have prevented me from ever participating in the organization’s annual convention.
That’s about to change this coming Thursday, June 23, as I travel to Minneapolis for the 26th annual convention, held at the Sheraton Bloomington Hotel.
A record 1,000-plus registered individuals are expected to attend. I am looking forward to meeting people from other HD-affected families, brainstorming on how to strengthen our cause, and sitting in on several workshops and other activities scheduled for the June 24-25 agenda. Among others, these include explanations of the disease, caregiving issues, advocacy, and a major session on the latest research developments. (Click here for a complete list.)
It should also prove highly rewarding – and hopefully plain fun, also! – to solidify some of the many online friendships I have developed over the years through this blog and my presence on Facebook.
A pivotal year
I’m bracing myself emotionally for what should be a very poignant experience.
In June I normally visit Brazil to conduct research as a professional historian. However, for the first time in a quarter century, I am skipping my annual visit to the country that is my second home and the birthplace of my wife. (She and our HD-free ten-year-old daughter arrived in Rio de Janeiro last Saturday after we spent a short vacation together in Florida visiting the Harry Potter theme park at Universal Orlando.)
This leaves me sad and reminds me once more of how HD has stolen many of our dreams as a family.
It also symbolizes the big shift in my life as I more carefully focus my efforts to help scientists in their quest for treatments and a cure.
In that respect, this year has become pivotal. On February 7 I delivered the keynote address to some 250 scientists, physicians, pharmaceutical company representatives, and others at the 6th Annual HD Therapeutics Conference in Palm Springs, CA, on February 7. On May 17 I gave a similar presentation to about 50 scientists at Alnylam Pharmaceuticals in Cambridge, MA, and held a sample of the company’s potential drug in my hand.
At the HDSA convention on June 25 I’ll take part in the traditional candle service, where representatives of the community light candles for the various groups within the HD community. My candle will represent “the hope of people living with HD.”
For me, this will be a great moment of solidarity. I will also be thinking of my mother, who died of HD in February 2006.
I know, too, that I’ll probably see scores of HD people – each one a reminder of my future as I await the inevitable onset of symptoms that characterizes HD.
Is a convention necessary?
Echoing the critical remark I read on Facebook yesterday, some might question the wisdom of holding a convention when so many HD families are in dire need. Attending a convention is beyond their means financially and/or logistically. They need help in the HD trenches.
Indeed, last month I wrote a blog article titled “S.O.S. for Huntington’s disease families." The article discussed the loss of income and extremely burdensome caregiving costs faced by these families. The demand for assistance far exceeds what HDSA can provide with its $8 million annual budget.
HD families should always question the goals and activities of the organization. Indeed, they are the organization. Only in this manner can our organization improve.
Over the years I have attended conventions and meetings of various kinds for professional or other reasons. Conventions are only as good as the people who attend and the ideas they contribute.
I am looking forward to the HDSA convention, because, in addition to the reasons I outlined above, it will provide me with the opportunity to meet people face-to-face, to see their body language, to build trust and camaraderie, and to exchange ideas freely.
I believe that this kind of contact can reinforce teamwork and strengthen our movement. Hopefully it can also bolster our hearts and souls.
As always, I’ll have my camera, voice recorder, and camcorder in hand to capture some of the highlights of the convention, and I’ll be blogging on the results upon my return.
* * *
Speaking of conventions, it’s time to sign up for the World Congress on Huntington’s Disease, to be held in Melbourne, Australia, from September 11-14. Interested scientists and members of the HD community can obtain more information about this all-important event by clicking here.
* * *
In my last article, “The Huntington’s disease high-wire act,” I neglected to mention that a book with a similar title, On a High Wire, Without a Net! Living with Huntington’s Disease was published in 2009 by HD activist and writer Susan E. Lawrence. Susan also wrote Sheltered from the Storm: Preparing for the HD Onset. Both books are valuable resources for our community.
* * *
This is my 101st posting in this blog! I began At Risk for Huntington’s Disease in January 2005. Let us all hope that sometime within the next 100 postings we can celebrate a major breakthrough towards a treatment for HD.
Wednesday, June 08, 2011
The Huntington's disease high-wire act
As a carrier of the gene for a deadly brain disease, I fight back with the instinctual urge for survival.
I dread the threat of that incurable killer – Huntington’s disease – as I recall my mother’s own struggle against it. For some 15 years, as I watched her lose the ability to walk, talk, and think, I looked into a genetic mirror that foretold my own future.
In the months before and especially after her passing in February 2006, I grappled with the fear of death. For the first time in my life, I knew I would die, and that death would come only after a decade or more of suffering. I am reminded of that harrowing reality each time I see an HD person or communicate with HD-affected families.
I also nurture hope that scientists will discover an effective treatment – perhaps even a cure – and therefore make my gene-positive status at best irrelevant and at worst a manageable, chronic condition, like diabetes. In the meantime, I watch my health and take supplements recommended by the Huntington’s Disease Drug Works program, try to squeeze in as much life as possible before my inevitable symptoms begin, and immerse myself ever more in my “shadow career” as a Huntington’s disease advocate.
In this race against time, I oscillate between dread and hope while struggling to balance the many facets of my life: profession, family, health, faith, and activism.
Tough decisions
“So many tough decision and choices,” wrote a good friend after reading about my shadow career. “You are like a tightrope walker, like the ‘Man on a Wire.’ Did you ever see that wonderful film? I recommend it – because living with a positive gene test as you are, balancing so many things, is a bit like what he does.
“And like him, you are an artist with a beautiful, amazing sense of living in the moment even while looking ahead.”
I was long intrigued by the theme of Man on Wire but hesitated to watch it, perhaps fearing that it would indeed remind me too much of living gene-positive for HD. Last Sunday, June 5, I finally watched it.
In walking on a wire between the World Trade Center’s Twin Towers in 1974, French aerialist Philippe Petit demonstrated how he lived out his ultimate fantasy joyfully – but also precariously, tempting mortality.
I know many people in the HD community performing their own, tragic tightrope acts – like the young adults pondering whether to test, couples debating the genetic risks of pregnancy, and caregivers weighing the decision to place a loved one in a nursing home.
Whereas Petit chose to risk his life on the wire for 30 minutes and had to be coaxed off of it by the police, HD people and their families are forced onto the wire and cannot get off. Although many still find moments of joy, all long for the treatment or cure that will end this ultimately nightmarish act.
Passion vs. obsession
My own personal tightrope includes yet another kind of balancing act: between passion and obsession.
Since joining the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego) shortly after my mother’s 1995 diagnosis, I have put great passion into the cause.
But sometimes I lose my balance, and the passion becomes obsession.
After speaking at Alnylam Pharmaceuticals in Cambridge, MA, on May 17 and holding a potential cure in my hands in the company’s lab, I couldn’t wait to share my excitement with others in the HD community. On the plane ride back from the East Coast on May 21, I worked on a blog article about the Alnylam trip non-stop for six hours.
My passion remained on full throttle when I arrived at home. I practically ignored my family and other activities for the next several days. Only after I posted the Alnylam article on May 25 could I start to come down from the trip.
A radio interview
In the midst of the Alnylam trip and its aftermath I needed to decide whether to take yet another huge step out of the "HD closet": going on the radio with two other advocates to talk about the disease and our personal situations.
I consulted with my wife and weighed the potential impact of the interview on my family and job. After giving up so many dreams because of Huntington’s disease, my wife doesn’t want our family, including our 10-year-old, HD-free daughter, to deal with the disease until it’s absolutely necessary.
My wife pointed out my obsession after the Alnylam trip. But she didn’t want the rest of the family to become obsessed.
That night I had a very long and intense dream about HD involving my relationship with my daughter. In the dream, as in life, I wanted her to know the truth about HD. But I also wanted to protect and guide her.
I ultimately decided that the opportunity to speak out on HD was too important to pass up. There was no time to think through the consequences. I would deal with them, whatever they might be, as they arose.
In short, I would improvise – just as Petit improvised during the planning and execution of his walk between the Twin Towers.
So, on May 26, just hours after posting the Alnylam article, I participated in a half-hour interview on the Clear Channel radio network. I explained the symptoms of HD and my family’s struggle with the disease, including my exit from the HD closet. (Click here for more on the program and to listen to the podcast.)
So far, I have received feedback on the interview only from people in the HD community. But I am preparing myself for eventual questions and comments by others, including people at work, where only one trusted friend knows about my situation.
‘HD doesn’t have me’
As another good friend observed as we discussed HD and professional commitments, a very fine line exists between passion and obsession. Indeed, because of that fine line, it’s very easy to fall off the tightrope.
This same friend pointed out that I must avoid letting my quest for the cure compromise my health. “You can’t let the ‘cure’ kill you,” he said.
I later remembered how, in a similar situation, some Huntington’s disease caregivers become burned out or even die before their loved ones because they fail to rest or seek enjoyment.
As I walk the Huntington’s high wire, I am reminded of the sage phrase repeated by a number of HD people I’ve had contact with in recent years: “I have HD – but HD doesn’t have me!”
HD indeed had me for a while following my Alnylam trip and the radio interview.
But I won back control over the Memorial Day weekend. As we shopped with our daughter for items for a barbecue we were hosting for friends, my wife smiled and put her arm around me lovingly.
HD no longer had me. I was back in the fold.
I dread the threat of that incurable killer – Huntington’s disease – as I recall my mother’s own struggle against it. For some 15 years, as I watched her lose the ability to walk, talk, and think, I looked into a genetic mirror that foretold my own future.
In the months before and especially after her passing in February 2006, I grappled with the fear of death. For the first time in my life, I knew I would die, and that death would come only after a decade or more of suffering. I am reminded of that harrowing reality each time I see an HD person or communicate with HD-affected families.
I also nurture hope that scientists will discover an effective treatment – perhaps even a cure – and therefore make my gene-positive status at best irrelevant and at worst a manageable, chronic condition, like diabetes. In the meantime, I watch my health and take supplements recommended by the Huntington’s Disease Drug Works program, try to squeeze in as much life as possible before my inevitable symptoms begin, and immerse myself ever more in my “shadow career” as a Huntington’s disease advocate.
In this race against time, I oscillate between dread and hope while struggling to balance the many facets of my life: profession, family, health, faith, and activism.
Tough decisions
“So many tough decision and choices,” wrote a good friend after reading about my shadow career. “You are like a tightrope walker, like the ‘Man on a Wire.’ Did you ever see that wonderful film? I recommend it – because living with a positive gene test as you are, balancing so many things, is a bit like what he does.
“And like him, you are an artist with a beautiful, amazing sense of living in the moment even while looking ahead.”
I was long intrigued by the theme of Man on Wire but hesitated to watch it, perhaps fearing that it would indeed remind me too much of living gene-positive for HD. Last Sunday, June 5, I finally watched it.
In walking on a wire between the World Trade Center’s Twin Towers in 1974, French aerialist Philippe Petit demonstrated how he lived out his ultimate fantasy joyfully – but also precariously, tempting mortality.
I know many people in the HD community performing their own, tragic tightrope acts – like the young adults pondering whether to test, couples debating the genetic risks of pregnancy, and caregivers weighing the decision to place a loved one in a nursing home.
Whereas Petit chose to risk his life on the wire for 30 minutes and had to be coaxed off of it by the police, HD people and their families are forced onto the wire and cannot get off. Although many still find moments of joy, all long for the treatment or cure that will end this ultimately nightmarish act.
Passion vs. obsession
My own personal tightrope includes yet another kind of balancing act: between passion and obsession.
Since joining the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego) shortly after my mother’s 1995 diagnosis, I have put great passion into the cause.
But sometimes I lose my balance, and the passion becomes obsession.
After speaking at Alnylam Pharmaceuticals in Cambridge, MA, on May 17 and holding a potential cure in my hands in the company’s lab, I couldn’t wait to share my excitement with others in the HD community. On the plane ride back from the East Coast on May 21, I worked on a blog article about the Alnylam trip non-stop for six hours.
My passion remained on full throttle when I arrived at home. I practically ignored my family and other activities for the next several days. Only after I posted the Alnylam article on May 25 could I start to come down from the trip.
A radio interview
In the midst of the Alnylam trip and its aftermath I needed to decide whether to take yet another huge step out of the "HD closet": going on the radio with two other advocates to talk about the disease and our personal situations.
I consulted with my wife and weighed the potential impact of the interview on my family and job. After giving up so many dreams because of Huntington’s disease, my wife doesn’t want our family, including our 10-year-old, HD-free daughter, to deal with the disease until it’s absolutely necessary.
My wife pointed out my obsession after the Alnylam trip. But she didn’t want the rest of the family to become obsessed.
That night I had a very long and intense dream about HD involving my relationship with my daughter. In the dream, as in life, I wanted her to know the truth about HD. But I also wanted to protect and guide her.
I ultimately decided that the opportunity to speak out on HD was too important to pass up. There was no time to think through the consequences. I would deal with them, whatever they might be, as they arose.
In short, I would improvise – just as Petit improvised during the planning and execution of his walk between the Twin Towers.
So, on May 26, just hours after posting the Alnylam article, I participated in a half-hour interview on the Clear Channel radio network. I explained the symptoms of HD and my family’s struggle with the disease, including my exit from the HD closet. (Click here for more on the program and to listen to the podcast.)
So far, I have received feedback on the interview only from people in the HD community. But I am preparing myself for eventual questions and comments by others, including people at work, where only one trusted friend knows about my situation.
‘HD doesn’t have me’
As another good friend observed as we discussed HD and professional commitments, a very fine line exists between passion and obsession. Indeed, because of that fine line, it’s very easy to fall off the tightrope.
This same friend pointed out that I must avoid letting my quest for the cure compromise my health. “You can’t let the ‘cure’ kill you,” he said.
I later remembered how, in a similar situation, some Huntington’s disease caregivers become burned out or even die before their loved ones because they fail to rest or seek enjoyment.
As I walk the Huntington’s high wire, I am reminded of the sage phrase repeated by a number of HD people I’ve had contact with in recent years: “I have HD – but HD doesn’t have me!”
HD indeed had me for a while following my Alnylam trip and the radio interview.
But I won back control over the Memorial Day weekend. As we shopped with our daughter for items for a barbecue we were hosting for friends, my wife smiled and put her arm around me lovingly.
HD no longer had me. I was back in the fold.
Saturday, May 28, 2011
S.O.S. for Huntington's disease families, and an important bill in Congress
Huntington’s disease ravages the brains and bodies of its victims, usually leaving them utterly dependent on others. Whereas a child matures, an HD patient regresses.
As a result, HD families face enormous caregiving and financial burdens, ones that neither governmental agencies nor disease organizations yet adequately relieve. (A pending bill in Congress, as described below, could help significantly.)
From the time of my HD-stricken moster's apparent early symptoms in the late 1980s until her death in 2006, I watched her lose the ability to walk, converse, and eat.
Fortunately, my “HD warrior” father could care for her. Ten years her senior, he retired around the time that she began to need full-time care. She mainly sat at home, rode around with him in the car, ate with him at restaurants, and attended Sunday Mass. They did slow walks around the local indoor mall, first with Dad helping support her so that she wouldn’t fall, then with her using a walker, and finally with her in a wheelchair.
At home, Mom started to fall more frequently. Once she broke a wrist. Another time she hit her head on a piece of furniture, opening a gash that required five staples. In August 2005, we agreed to put her in a nursing home.
Until that point, my parents had gotten by financially on their modest retirement savings and Social Security.
They had enough money for several years of care at the nursing home, but the monthly nursing home bills of several thousand dollars began to rapidly deplete their savings. They would have to spend virtually every penny before she could qualify for Medicaid.
Her death cut short the need to seek public assistance. My father lived almost four more years, able to survive on his savings and Social Security.
Worries about the future
Now my family also faces potential financial difficulties.
In 1999, I tested positive for HD. Now, at 51, I have reached my mother’s age of disease onset. I am doing my best – via exercise, meditation, and supplements – to stave off symptoms. Still, when those symptoms inevitably start, I could lose my job, causing a dramatic drop in family income. Frugality has long been the name of the game in our home.
To prepare for the worst, in recent years we have built a Huntington’s disease “war chest” by saving between 15 and 20 percent of our income. Our daughter turns eleven next month, so we’ll also need to tap those funds for her college education.
Once I become symptomatic, we will have to apply for Social Security disability and Medicare benefits.
Inadequate nursing homes
Often I am painfully reminded of my family’s situation and the urgent need for financial and caregiving assistance for our HD families.
Recently, my fellow HD advocate Frances Saldaña of Fountain Valley, CA, unburdened herself to me about her family’s struggles.
Frances’s first husband died of HD, and her three children developed juvenile Huntington’s disease. Her youngest child, Marie, died in late 2009 at the age of 32.
Michael, 38, lives in a care facility in the infamous, crime-plagued Los Angeles neighborhood of Watts, far from Fountain Valley, which is in Orange County.
“It’s the only place that would take him,” Frances told me over the phone after we discussed advocacy for the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain Social Security and Medicare benefits.
In Orange County, all of the care centers she approached refused to take in Michael because of their inability to work with HD patients.
“‘They require too much work, and we don’t have the staff,’” Frances explained, quoting the comments of care administrators about HD patients.
Frances says these facilities are violating the law by refusing to live up to the contracts they sign with the State of California, which prohibit discrimination against patients in facilities that receive Medi-Cal funds (the name for Medicaid in California).
To my knowledge, nobody in the HD community has had the time or expertise to seek redress from the state.
A family drained by HD
I met Frances’s oldest child Margie Hayes when the mother-daughter team advocated for HD stem-cell research at a meeting of the California state stem-cell agency in December 2007. Margie already had noticeable symptoms such as chorea (shaking and trembling), although she could still speak clearly. Everybody in the room was moved by their presentation.
Margie Hayes (right) speaks at California stem-cell meeting in 2007 as mother Frances Saldaña looks on (photo by Gene Veritas).
Now 41, Margie struggles with her worsening symptoms. For more than a year, Frances and other relatives have pooled resources to hire a private caregiver to watch over Margie eight hours per day. Because Margie is not her legal dependent, Frances cannot deduct her contribution on her tax returns.
“Her husband is so drained,” Frances said of Craig Hayes’ attempt to care for his wife at their home. “He doesn’t have the energy to do this anymore. He quit his job in Huntington Beach, which paid a lot more, so he could be close to Margie and the kids.”
Craig comes home at midday to give Margie her medications and feed her lunch.
“Not very many men would put up with this," Frances said. "She gets feisty and has behavioral issues when things don’t go her way."
Losing control
On one occasion, Craig had to hold Margie to prevent her from running out of the house, Frances told me.
“She’s totally disabled,” Frances continued. “She can’t talk anymore. She’s just mumbling. She can’t walk without anybody holding on to her. She has grimacing on her face. She refused a wheelchair.” The family must chop Margie’s food into small pieces so that she can safely swallow it.
In early April, Margie fell in the bathroom, slicing her skin open on a metal rail. She required 30 external and internal stitches. Yet, according to Frances, the emergency room personnel missed another laceration on the crown of Margie’s head. Only later, when the home caregiver was brushing Margie’s hair, did that cut become apparent. A crust of dried blood had formed, causing it to heal on its own. Luckily, Margie didn’t fracture her skull or have internal bleeding, Frances said.
The battle for Social Security
For years, Frances has championed the cause for improved facilities for HD patients in California, but to little avail. The family again faces the extremely difficult challenge of finding a care facility, this time for Margie.
Despite her advanced HD, Margie has not gotten Social Security disability payments. According to Frances, Craig became too overwhelmed to successfully complete the long and bureaucratic application process. Frances, too, feels overwhelmed and wishes she had more time to devote to the matter. Those funds would help defray the cost of Margie’s care.
She pointed out the need for the Huntington’s Disease Society of America (HDSA) to provide legal services for people in her situation.
After seeing three children devastated by HD, Frances is anxious about her grandchildren, who have not been tested.
“The clock is ticking,” she told me. “These kids are getting older. If they have the mutant protein, we still don’t have a treatment. The research has to move faster.
“I gave up on the care being there for my children about four or five years ago. My goal now is to make them comfortable. I hope to God that my grandchildren are not carrying it.”
Losing a home
James Valvano, a 39-year-old Florida patient with early symptoms, has received a doubly harsh dose of HD reality: he lost his business – and now his home. James has produced an important film on HD titled The Faceless Faces of Huntington’s Disease (click here to read more).
“My partner and I lost our home (of 14 years) and have moved in with my parents,” James wrote me a couple weeks ago. “Although something of this magnitude would normally ‘crush’ someone, we have decided to look at this in a positive light.
“Since my diagnosis in 2009, and the fact that I had to let my small business go, financial burdens continued to become overbearing.We will be fine, and I believe there is a reason for everything. I have to apologize for not getting back with you (let alone keeping in touch), however I became overwhelmed by life's curve-balls, and the simple fact that we were struggling to stay afloat."
James has tried to find the bright side. “The saving grace to all of this is the wonderful people within our … community, and my Film Team," he wrote. "I was not willing to let financial hardship destroy what we had worked on for two years ... nor was I going to let the anxiety and depression drown me.”
James Valvano (personal photo)
James receives Social Security disability income and, with the standard two-year waiting period about to expire, will also get Medicare benefits. (The above-mentioned HD Parity Act would eliminate that waiting period.) James’s partner was let go from his job at British Petroleum. For a number of months the couple tried to get by on just $1,000 a month.
“It came down to not having enough money to pay the mortgage, and the mortgage company would not work with us to refinance the house at its current value,” James continued. “We had a lawyer who was keeping them ‘at bay,’ but due to financial (constraints), we were unable to continue to pay him (the lawyer). So, we just decided to pick up and leave.”
Too big a hole to fill
In situations like those faced by Margie and James, HD families often have nowhere to turn.
“Why in this world is there no organization out there to financially set up or give help to HD families?” one woman lamented in an HD discussion group on Facebook.
In an interview on May 19, I put this question to Louise Vetter, the CEO of the Huntington’s Disease Society of America, based in New York City.
“The Board (of Trustees) has actually talked quite a bit about it, because it is something that I’ve heard from the day that I joined,” said Louise, now in her third year at the HDSA helm after nine years working for the American Lung Association. “Certainly the financial impact of HD is unique and particularly devastating.
“Unfortunately, it’s a hole that we just can’t fill, due to our (limited) resources and the overwhelming financial need. How would we choose that somebody’s rent is worth paying and somebody else’s isn’t? It really comes down to that. The board has struggled with this and felt that we cannot be a financial service organization at this time and still meet the other needs of our mission.”
HDSA’s annual budget is approximately $8.5 million, with roughly one quarter going for administration and fundraising and the rest for education, research, and the local Centers of Excellence for Family Services and Research.
The organization continues to rely mainly on affected families for its donations.
“There are a lot of smaller foundations that will provide support in specific communities,” Louise continued in reference to the dire needs of HD families. However, most national health non-profits do not provide such assistance.
May 31: HDSA’s call-in day to Congress
So, for now at least, HD families must depend on public assistance.
Louise pointed out that HDSA staff members can assist family members with questions about government benefits such as Social Security and Medicare. HDSA’s number is 800-345-HDSA (4372).
To help get benefits faster into families’ hands, HDSA and its many volunteer advocates in the field are making a big push to pass the HD Parity Act.
As of May 27, 2011, 67 members of the House of Representatives and four Senators had co-sponsored the Act.
In mid-May, HDSA announced the key support for the bill from Sen. Charles Schumer (D-NY), who is a member of the powerful Senate Committee on Finance and its Subcommittee on Social Security, Pensions, and Family Policy.
On Tuesday, May 31, HDSA is sponsoring a national call-in day. The organization requests that all HD families, friends, and supporters call uncommitted senators and representatives and urge them to co-sponsor the bill.
To learn more, click here. Also watch the interview on the bill that I conducted on May 19 with HDSA advocacy manager Jane Kogan.
The call-in day is the HD community’s S.O.S. to Congress and the country. Families like the Valvanos and the Hayeses need our help. Because their burden is so huge, society needs to lend a hand.
Passage of the HD Parity Act of 2011 would provide a tremendous boost to HD families and the cause in general.
Remember: please call your representative and senators on May 31!
As a result, HD families face enormous caregiving and financial burdens, ones that neither governmental agencies nor disease organizations yet adequately relieve. (A pending bill in Congress, as described below, could help significantly.)
From the time of my HD-stricken moster's apparent early symptoms in the late 1980s until her death in 2006, I watched her lose the ability to walk, converse, and eat.
Fortunately, my “HD warrior” father could care for her. Ten years her senior, he retired around the time that she began to need full-time care. She mainly sat at home, rode around with him in the car, ate with him at restaurants, and attended Sunday Mass. They did slow walks around the local indoor mall, first with Dad helping support her so that she wouldn’t fall, then with her using a walker, and finally with her in a wheelchair.
At home, Mom started to fall more frequently. Once she broke a wrist. Another time she hit her head on a piece of furniture, opening a gash that required five staples. In August 2005, we agreed to put her in a nursing home.
Until that point, my parents had gotten by financially on their modest retirement savings and Social Security.
They had enough money for several years of care at the nursing home, but the monthly nursing home bills of several thousand dollars began to rapidly deplete their savings. They would have to spend virtually every penny before she could qualify for Medicaid.
Her death cut short the need to seek public assistance. My father lived almost four more years, able to survive on his savings and Social Security.
Worries about the future
Now my family also faces potential financial difficulties.
In 1999, I tested positive for HD. Now, at 51, I have reached my mother’s age of disease onset. I am doing my best – via exercise, meditation, and supplements – to stave off symptoms. Still, when those symptoms inevitably start, I could lose my job, causing a dramatic drop in family income. Frugality has long been the name of the game in our home.
To prepare for the worst, in recent years we have built a Huntington’s disease “war chest” by saving between 15 and 20 percent of our income. Our daughter turns eleven next month, so we’ll also need to tap those funds for her college education.
Once I become symptomatic, we will have to apply for Social Security disability and Medicare benefits.
Inadequate nursing homes
Often I am painfully reminded of my family’s situation and the urgent need for financial and caregiving assistance for our HD families.
Recently, my fellow HD advocate Frances Saldaña of Fountain Valley, CA, unburdened herself to me about her family’s struggles.
Frances’s first husband died of HD, and her three children developed juvenile Huntington’s disease. Her youngest child, Marie, died in late 2009 at the age of 32.
Michael, 38, lives in a care facility in the infamous, crime-plagued Los Angeles neighborhood of Watts, far from Fountain Valley, which is in Orange County.
“It’s the only place that would take him,” Frances told me over the phone after we discussed advocacy for the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain Social Security and Medicare benefits.
In Orange County, all of the care centers she approached refused to take in Michael because of their inability to work with HD patients.
“‘They require too much work, and we don’t have the staff,’” Frances explained, quoting the comments of care administrators about HD patients.
Frances says these facilities are violating the law by refusing to live up to the contracts they sign with the State of California, which prohibit discrimination against patients in facilities that receive Medi-Cal funds (the name for Medicaid in California).
To my knowledge, nobody in the HD community has had the time or expertise to seek redress from the state.
A family drained by HD
I met Frances’s oldest child Margie Hayes when the mother-daughter team advocated for HD stem-cell research at a meeting of the California state stem-cell agency in December 2007. Margie already had noticeable symptoms such as chorea (shaking and trembling), although she could still speak clearly. Everybody in the room was moved by their presentation.
Margie Hayes (right) speaks at California stem-cell meeting in 2007 as mother Frances Saldaña looks on (photo by Gene Veritas).Now 41, Margie struggles with her worsening symptoms. For more than a year, Frances and other relatives have pooled resources to hire a private caregiver to watch over Margie eight hours per day. Because Margie is not her legal dependent, Frances cannot deduct her contribution on her tax returns.
“Her husband is so drained,” Frances said of Craig Hayes’ attempt to care for his wife at their home. “He doesn’t have the energy to do this anymore. He quit his job in Huntington Beach, which paid a lot more, so he could be close to Margie and the kids.”
Craig comes home at midday to give Margie her medications and feed her lunch.
“Not very many men would put up with this," Frances said. "She gets feisty and has behavioral issues when things don’t go her way."
Losing control
On one occasion, Craig had to hold Margie to prevent her from running out of the house, Frances told me.
“She’s totally disabled,” Frances continued. “She can’t talk anymore. She’s just mumbling. She can’t walk without anybody holding on to her. She has grimacing on her face. She refused a wheelchair.” The family must chop Margie’s food into small pieces so that she can safely swallow it.
In early April, Margie fell in the bathroom, slicing her skin open on a metal rail. She required 30 external and internal stitches. Yet, according to Frances, the emergency room personnel missed another laceration on the crown of Margie’s head. Only later, when the home caregiver was brushing Margie’s hair, did that cut become apparent. A crust of dried blood had formed, causing it to heal on its own. Luckily, Margie didn’t fracture her skull or have internal bleeding, Frances said.
The battle for Social Security
For years, Frances has championed the cause for improved facilities for HD patients in California, but to little avail. The family again faces the extremely difficult challenge of finding a care facility, this time for Margie.
Despite her advanced HD, Margie has not gotten Social Security disability payments. According to Frances, Craig became too overwhelmed to successfully complete the long and bureaucratic application process. Frances, too, feels overwhelmed and wishes she had more time to devote to the matter. Those funds would help defray the cost of Margie’s care.
She pointed out the need for the Huntington’s Disease Society of America (HDSA) to provide legal services for people in her situation.
After seeing three children devastated by HD, Frances is anxious about her grandchildren, who have not been tested.
“The clock is ticking,” she told me. “These kids are getting older. If they have the mutant protein, we still don’t have a treatment. The research has to move faster.
“I gave up on the care being there for my children about four or five years ago. My goal now is to make them comfortable. I hope to God that my grandchildren are not carrying it.”
Losing a home
James Valvano, a 39-year-old Florida patient with early symptoms, has received a doubly harsh dose of HD reality: he lost his business – and now his home. James has produced an important film on HD titled The Faceless Faces of Huntington’s Disease (click here to read more).
“My partner and I lost our home (of 14 years) and have moved in with my parents,” James wrote me a couple weeks ago. “Although something of this magnitude would normally ‘crush’ someone, we have decided to look at this in a positive light.
“Since my diagnosis in 2009, and the fact that I had to let my small business go, financial burdens continued to become overbearing.We will be fine, and I believe there is a reason for everything. I have to apologize for not getting back with you (let alone keeping in touch), however I became overwhelmed by life's curve-balls, and the simple fact that we were struggling to stay afloat."
James has tried to find the bright side. “The saving grace to all of this is the wonderful people within our … community, and my Film Team," he wrote. "I was not willing to let financial hardship destroy what we had worked on for two years ... nor was I going to let the anxiety and depression drown me.”
James Valvano (personal photo)James receives Social Security disability income and, with the standard two-year waiting period about to expire, will also get Medicare benefits. (The above-mentioned HD Parity Act would eliminate that waiting period.) James’s partner was let go from his job at British Petroleum. For a number of months the couple tried to get by on just $1,000 a month.
“It came down to not having enough money to pay the mortgage, and the mortgage company would not work with us to refinance the house at its current value,” James continued. “We had a lawyer who was keeping them ‘at bay,’ but due to financial (constraints), we were unable to continue to pay him (the lawyer). So, we just decided to pick up and leave.”
Too big a hole to fill
In situations like those faced by Margie and James, HD families often have nowhere to turn.
“Why in this world is there no organization out there to financially set up or give help to HD families?” one woman lamented in an HD discussion group on Facebook.
In an interview on May 19, I put this question to Louise Vetter, the CEO of the Huntington’s Disease Society of America, based in New York City.
“The Board (of Trustees) has actually talked quite a bit about it, because it is something that I’ve heard from the day that I joined,” said Louise, now in her third year at the HDSA helm after nine years working for the American Lung Association. “Certainly the financial impact of HD is unique and particularly devastating.
“Unfortunately, it’s a hole that we just can’t fill, due to our (limited) resources and the overwhelming financial need. How would we choose that somebody’s rent is worth paying and somebody else’s isn’t? It really comes down to that. The board has struggled with this and felt that we cannot be a financial service organization at this time and still meet the other needs of our mission.”
HDSA’s annual budget is approximately $8.5 million, with roughly one quarter going for administration and fundraising and the rest for education, research, and the local Centers of Excellence for Family Services and Research.
The organization continues to rely mainly on affected families for its donations.
“There are a lot of smaller foundations that will provide support in specific communities,” Louise continued in reference to the dire needs of HD families. However, most national health non-profits do not provide such assistance.
May 31: HDSA’s call-in day to Congress
So, for now at least, HD families must depend on public assistance.
Louise pointed out that HDSA staff members can assist family members with questions about government benefits such as Social Security and Medicare. HDSA’s number is 800-345-HDSA (4372).
To help get benefits faster into families’ hands, HDSA and its many volunteer advocates in the field are making a big push to pass the HD Parity Act.
As of May 27, 2011, 67 members of the House of Representatives and four Senators had co-sponsored the Act.
In mid-May, HDSA announced the key support for the bill from Sen. Charles Schumer (D-NY), who is a member of the powerful Senate Committee on Finance and its Subcommittee on Social Security, Pensions, and Family Policy.
On Tuesday, May 31, HDSA is sponsoring a national call-in day. The organization requests that all HD families, friends, and supporters call uncommitted senators and representatives and urge them to co-sponsor the bill.
To learn more, click here. Also watch the interview on the bill that I conducted on May 19 with HDSA advocacy manager Jane Kogan.
HDSA's Jane Kogan: Time to Contact Congress on Huntington's Disease Parity Act from Gene Veritas on Vimeo.
S.O.S. HDThe call-in day is the HD community’s S.O.S. to Congress and the country. Families like the Valvanos and the Hayeses need our help. Because their burden is so huge, society needs to lend a hand.
Passage of the HD Parity Act of 2011 would provide a tremendous boost to HD families and the cause in general.
Remember: please call your representative and senators on May 31!
Wednesday, May 25, 2011
Holding the potential cure in my hand
After telling yet another audience of scientists about my family’s two-decade struggle against Huntington’s disease, I held a potential cure for HD in my hand during a visit to Alnylam Pharmaceuticals in Cambridge, MA, on May 17.
For me, it was like holding the most valuable substance in the world. I inherited the HD-causing gene from my mother, who died of the disease in 2006 at the age of 68. At 51, I have now reached the age when HD started destroying my mother’s brain, erasing her personality, and leaving her unable to walk, talk, eat, or care for herself in the most basic way.
HD is 100 percent genetic: unless drug hunters get a treatment on the market in the next few years, I will get symptoms.
As I held what seemed like a magic compound, held in a small, securely capped plastic container, I smiled. A treatment – and maybe even a cure – now seemed more possible than ever. And Alnylam – along with its partners Medtronic and the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative – is indeed preparing intensively to start a clinical trial.
A shot of me holding the potential cure (photo by Dr. Mathias Kretschmer of Alnylam).
This was a historic moment. As I stood in the lab at the Alnylam (pronounced “al-NIGH-lam”) facility, I thought of all the years that our community of affected families and treatment-seeking researchers had waited for scientific breakthroughs.
I, the gene-positive HD person, caught a glimpse of a future filled with hope, even as I recognize that hope depends on further scientific breakthroughs and long odds. In the drug industry, 90 percent of clinical trials fail to produce a treatment.
ALN-HTT: white and flaky
“ALN-HTT” is the name Alnylam has given this candidate drug product, which is a solution containing the drug substance, the term scientists use for the active ingredient in drugs. It stands for “Alnylam” and “huntingtin,” the name of both the gene and protein that, when defective, cause HD.
The substance – an “siRNA,” or small interfering RNA molecule – is white and flaky.
RNA interference (RNAi) was discovered in 1998 by Craig Mello and Andrew Fire in C. elegans, a species of worm. By interfering with the conversion of the genetic code into specific proteins, RNAi controls helps control the expression of genes and prevents problems from occurring in cells.
For their discovery, in 2006 Mello and Fire won the Nobel Prize in Physiology or Medicine.
At the outset, they and other scientists thought RNAi could not occur in mammals or humans.
Then, in the early 2000s, two teams of German scientists discovered that RNAi did indeed exist in cultured human cells (cells outside the body). In a presentation at the Dana Farber Cancer Institute this past January, Alnylam demonstrated that RNAi also exists in humans.
Gene silencing
This process is also known as “gene silencing.” RNAi can turn off practically any gene in the body. The discovery of RNAi virtually coincided with the completion of the Genome Project, which identified every gene in the human body.
Immediately, scientists embarked on making siRNAs to turn off harmful genes. Drug discovery companies in Europe and the United States sprung up to explore this breathtaking technology, seen by many as the genesis of a new, very large class of drugs for halting all kinds of disease.
Nobel laureate Phil Sharp started Alnylam in 2002. The company took its name from the middle star in the belt of the constellation Orion. “The star has a luminosity that is 250,000 greater than the sun, representative of the potential strength that RNAi therapeutics could bring to bear in human health,” the company states on its website.
No company has yet put an RNAi drug onto the market, but Alnylam is hoping to be the first. The company has a staff of about 175 and partners with large pharmaceuticals in the search for RNAi remedies. Last year Alnylam ended a five-year partnership with Swiss pharmaceutical giant Novartis, forcing Alnylam to lay off 25 employees, but Novartis continues to pursue drug possibilities using Alnylam experimental treatments. Alnylam has more than $300 million in cash to support its activities.
Alnylam research focuses on a range of diseases and conditions, including liver cancers, respiratory syncytial virus infection (affecting the lungs and breathing passages), ultra-high cholesterol, refractory anemia, and transthyretin-mediated amyloidosis. It also facilitates research on neglected tropical diseases. The company is working on five RNAi products for genetic diseases and aims to have them in advanced stages of clinical development by the end of 2015.
Aiming for a clinical trial
In 2005, Alnylam initiated a major Huntington’s disease research project, aiming not only to address HD but also to develop techniques that might prove useful against other neurological diseases. Because HD is 100 percent genetic, it provides an excellent test for the effectiveness of gene silencing.
Alnylam intends to use ALN-HTT to silence the huntingtin gene so that less huntingtin protein is produced to harm brain cells. If successful, the treatment would save brain cells from dying and slow down and possibly even reverse the course of Huntington’s disease.
A number of research labs have already demonstrated safety and effectiveness of this approach in transgenic mice that have HD-like symptoms. In preliminary studies, it’s also safe in monkeys.
The next step is a big one. Alnylam, Medtronic, and CHDI are preparing to apply in 2012 to the U.S. Food and Drug Administration (FDA) for permission to conduct a Phase I clinical trial of ALN-HTT in humans. Alnylam hopes to start the trial in a small number of HD patients once the application is accepted.
The goal of Phase I studies in general is to demonstrate safety and tolerability – that the drug does not cause adverse impacts. If successful, Alnylam would then proceed to Phases II and III, which would be designed to demonstrate the effectiveness of the drug.
Entering uncharted territory
This is all uncharted territory for the FDA, doctors, researchers, the biotech industry, and investors. Safety for the test subjects is of the utmost importance – but so is the need to find a treatment for those families facing the horrors of HD.
Getting ALN-HTT into the brain is a major scientific and medical challenge. Because of the blood-brain barrier, which protects the brain against foreign substances, many drugs cannot get into the brain. So a drug like ALN-HTT must be injected directly into the brain.
So, for the first time in history, doctors will attempt to treat a brain condition by implanting a device into the skull in order to inject a siRNA drug.
Doctors have already experimented with deep-brain stimulation by implanting electrodes into the brains of patients with Parkinson’s, epilepsy, dystonia, depression, and even HD, explained Dinah Sah, Ph.D., the head of the Alnylam HD team and Vice President of Research. The procedure has shown some benefit in Parkinson’s, but no known effect yet in HD.
Recently a clinical trial demonstrated improvement in Parkinson’s patients who received gene therapy in which a virus was used to transport the genetic message into brain cells.
Physicians have also injected a cell growth stimulant (growth factor) into the brains of Parkinson’s patients. This last approach is still under study.
Alnylam has partnered with Medtronic, a leading maker of medicinal pumps, to devise a pump to be placed in the HD patients’ abdomens. Doctors will run thin tubing under the skin from the pumps to a nodule at the top of the patients’ heads, and from that point a very fine needle will run into the putamen, one of the regions of the brain most devastated by HD.
For all of this to happen, expert doctors in the procedure will conduct an operation on the clinical trial participants. Doctors will then administer ALN-HTT, which will be dissolved in a special solution, by filling the pump and allowing it to send the drug to the brain according to a schedule and in doses to be determined by the researchers.
Other possibilities
This is all just a very brief sketch of the Alnylam project. Soon I will be writing more detailed reports, which will examine how Alnylam and its partners developed ALN-HTT and hope to turn it into a successful drug to treat Huntington’s disease. These reports will also consider the many challenges involved in this quest for an siRNA treatment.
Remember, too, that Alnylam is not the only project seeking to control HD at its genetic roots. As I have noted in several articles since 2008, Isis Pharmaceuticals, Inc., of Carlsbad, CA, has devised a similar drug candidate to be applied directly in the brain (click here to read more). And Dr. Jan Nolta’s lab at the University of California, Davis, is experimenting with ways to use stem cells to introduce siRNA into the brain. For an overview of HD and gene silencing, see the excellent article by Dr. Jeff Carroll.
Isis and Alnylam operate a joint venture, Regulus Therapeutics, to research microRNAs, an even more recent discovery also involving RNA interference.
HD researchers aren’t banking on any one of these initiatives as the sole solution to HD. Although one of them could indeed turn out to be the “cure,” most researchers speak of the likely need for an HD “cocktail” of drugs that would stop or at least reduce the many harmful effects on the brain caused by HD.
Seeking patient input
To assist with the HD project, last November Alnylam signed an agreement with CHDI, a multi-million-dollar effort backed by an anonymous donor. CHDI is pumping money into the project and lending its expertise in Huntington’s disease.
The crucial CHDI collaboration will reinforce Alnylam’s efforts to design a safe Phase I trial.
To that end, Alnylam is also seeking to learn more about the patients and gene-positive people whom it hopes to benefit.
After watching my keynote speech at CHDI’s Sixth Annual HD Therapeutics Conference in Palm Springs, CA, on February 7, Dr. Sah invited me to give a similar presentation at the company. My May 17 visit inaugurated a new Alnylam initiative to involve patient advocates in order to put a human face on the conditions they seek to alleviate.
During the Q & A after the speech, attended by about 50 people, Alnylam executives and scientists were anxious to hear my opinion about several aspects of clinical trials.
The desire to function normally
One scientist wanted to know what people affected by HD community would consider to be a successful treatment. Obviously we all want a “cure” that completely eliminates the disease, I responded. But short of that, we need something that would at least allow us to continue to function normally. If someone suffered from chorea (the shaking and trembling caused by HD), a good drug would at least prevent that person from also losing the ability to think and speak.
We also need a drug that would prevent HD from erasing an individual’s personality by preventing the behavioral, emotional, and cognitive problems. HD, I said, had stolen my mother’s personhood.
One doctor asked: what if we fail and no treatment results from this experiment?
I responded that I recognized that failure is a part of science. You don’t know if something will work unless you try it, and if it fails, then you know it’s time to proceed to other alternatives.
However, I told the audience that I personally do not think about failure. The project must succeed! At that, many people nodded enthusiastically, and one of the executives said: “We agree with you!”
At that moment, I felt a special bond with everybody in the room. We were all rededicating ourselves to the quest for the cure – although everybody also recognized that failure remained a distinct possibility.
Avoiding hurdles, gaining speed
Afterwards I met with CEO John Maraganore, Ph.D., President and COO Barry Greene, Dr. Sah, Doug Macdonald, Ph.D., of CHDI, and Jules Greenwald, the development director for the Huntington’s Disease Society of America (HDSA). I took the opportunity to interview Maraganore and Greene.
Both stressed the need to prepare an effective Phase I application to the FDA and to convince the agency of the urgency of getting an siRNA treatment to HD patients.
“It’s important for us to have a dialogue, which includes patient advocates, with the FDA and other regulatory agencies, so that they appreciate the significant burden that the disease has on patients and their families,” Greene said.
“I think they know the disease, but they don’t really know the face of the disease,” Dr. Maraganore said.
For me, it was like holding the most valuable substance in the world. I inherited the HD-causing gene from my mother, who died of the disease in 2006 at the age of 68. At 51, I have now reached the age when HD started destroying my mother’s brain, erasing her personality, and leaving her unable to walk, talk, eat, or care for herself in the most basic way.
HD is 100 percent genetic: unless drug hunters get a treatment on the market in the next few years, I will get symptoms.
As I held what seemed like a magic compound, held in a small, securely capped plastic container, I smiled. A treatment – and maybe even a cure – now seemed more possible than ever. And Alnylam – along with its partners Medtronic and the CHDI Foundation, Inc., the so-called “cure Huntington’s disease initiative – is indeed preparing intensively to start a clinical trial.
A shot of me holding the potential cure (photo by Dr. Mathias Kretschmer of Alnylam).
This was a historic moment. As I stood in the lab at the Alnylam (pronounced “al-NIGH-lam”) facility, I thought of all the years that our community of affected families and treatment-seeking researchers had waited for scientific breakthroughs.
I, the gene-positive HD person, caught a glimpse of a future filled with hope, even as I recognize that hope depends on further scientific breakthroughs and long odds. In the drug industry, 90 percent of clinical trials fail to produce a treatment.
ALN-HTT: white and flaky
“ALN-HTT” is the name Alnylam has given this candidate drug product, which is a solution containing the drug substance, the term scientists use for the active ingredient in drugs. It stands for “Alnylam” and “huntingtin,” the name of both the gene and protein that, when defective, cause HD.
The substance – an “siRNA,” or small interfering RNA molecule – is white and flaky.
RNA interference (RNAi) was discovered in 1998 by Craig Mello and Andrew Fire in C. elegans, a species of worm. By interfering with the conversion of the genetic code into specific proteins, RNAi controls helps control the expression of genes and prevents problems from occurring in cells.
For their discovery, in 2006 Mello and Fire won the Nobel Prize in Physiology or Medicine.
At the outset, they and other scientists thought RNAi could not occur in mammals or humans.
Then, in the early 2000s, two teams of German scientists discovered that RNAi did indeed exist in cultured human cells (cells outside the body). In a presentation at the Dana Farber Cancer Institute this past January, Alnylam demonstrated that RNAi also exists in humans.
Gene silencing
This process is also known as “gene silencing.” RNAi can turn off practically any gene in the body. The discovery of RNAi virtually coincided with the completion of the Genome Project, which identified every gene in the human body.
Immediately, scientists embarked on making siRNAs to turn off harmful genes. Drug discovery companies in Europe and the United States sprung up to explore this breathtaking technology, seen by many as the genesis of a new, very large class of drugs for halting all kinds of disease.
Nobel laureate Phil Sharp started Alnylam in 2002. The company took its name from the middle star in the belt of the constellation Orion. “The star has a luminosity that is 250,000 greater than the sun, representative of the potential strength that RNAi therapeutics could bring to bear in human health,” the company states on its website.
No company has yet put an RNAi drug onto the market, but Alnylam is hoping to be the first. The company has a staff of about 175 and partners with large pharmaceuticals in the search for RNAi remedies. Last year Alnylam ended a five-year partnership with Swiss pharmaceutical giant Novartis, forcing Alnylam to lay off 25 employees, but Novartis continues to pursue drug possibilities using Alnylam experimental treatments. Alnylam has more than $300 million in cash to support its activities.
Alnylam research focuses on a range of diseases and conditions, including liver cancers, respiratory syncytial virus infection (affecting the lungs and breathing passages), ultra-high cholesterol, refractory anemia, and transthyretin-mediated amyloidosis. It also facilitates research on neglected tropical diseases. The company is working on five RNAi products for genetic diseases and aims to have them in advanced stages of clinical development by the end of 2015.
Aiming for a clinical trial
In 2005, Alnylam initiated a major Huntington’s disease research project, aiming not only to address HD but also to develop techniques that might prove useful against other neurological diseases. Because HD is 100 percent genetic, it provides an excellent test for the effectiveness of gene silencing.
Alnylam intends to use ALN-HTT to silence the huntingtin gene so that less huntingtin protein is produced to harm brain cells. If successful, the treatment would save brain cells from dying and slow down and possibly even reverse the course of Huntington’s disease.
A number of research labs have already demonstrated safety and effectiveness of this approach in transgenic mice that have HD-like symptoms. In preliminary studies, it’s also safe in monkeys.
The next step is a big one. Alnylam, Medtronic, and CHDI are preparing to apply in 2012 to the U.S. Food and Drug Administration (FDA) for permission to conduct a Phase I clinical trial of ALN-HTT in humans. Alnylam hopes to start the trial in a small number of HD patients once the application is accepted.
The goal of Phase I studies in general is to demonstrate safety and tolerability – that the drug does not cause adverse impacts. If successful, Alnylam would then proceed to Phases II and III, which would be designed to demonstrate the effectiveness of the drug.
Entering uncharted territory
This is all uncharted territory for the FDA, doctors, researchers, the biotech industry, and investors. Safety for the test subjects is of the utmost importance – but so is the need to find a treatment for those families facing the horrors of HD.
Getting ALN-HTT into the brain is a major scientific and medical challenge. Because of the blood-brain barrier, which protects the brain against foreign substances, many drugs cannot get into the brain. So a drug like ALN-HTT must be injected directly into the brain.
So, for the first time in history, doctors will attempt to treat a brain condition by implanting a device into the skull in order to inject a siRNA drug.
Doctors have already experimented with deep-brain stimulation by implanting electrodes into the brains of patients with Parkinson’s, epilepsy, dystonia, depression, and even HD, explained Dinah Sah, Ph.D., the head of the Alnylam HD team and Vice President of Research. The procedure has shown some benefit in Parkinson’s, but no known effect yet in HD.
Recently a clinical trial demonstrated improvement in Parkinson’s patients who received gene therapy in which a virus was used to transport the genetic message into brain cells.
Physicians have also injected a cell growth stimulant (growth factor) into the brains of Parkinson’s patients. This last approach is still under study.
Alnylam has partnered with Medtronic, a leading maker of medicinal pumps, to devise a pump to be placed in the HD patients’ abdomens. Doctors will run thin tubing under the skin from the pumps to a nodule at the top of the patients’ heads, and from that point a very fine needle will run into the putamen, one of the regions of the brain most devastated by HD.
For all of this to happen, expert doctors in the procedure will conduct an operation on the clinical trial participants. Doctors will then administer ALN-HTT, which will be dissolved in a special solution, by filling the pump and allowing it to send the drug to the brain according to a schedule and in doses to be determined by the researchers.
Other possibilities
This is all just a very brief sketch of the Alnylam project. Soon I will be writing more detailed reports, which will examine how Alnylam and its partners developed ALN-HTT and hope to turn it into a successful drug to treat Huntington’s disease. These reports will also consider the many challenges involved in this quest for an siRNA treatment.
Remember, too, that Alnylam is not the only project seeking to control HD at its genetic roots. As I have noted in several articles since 2008, Isis Pharmaceuticals, Inc., of Carlsbad, CA, has devised a similar drug candidate to be applied directly in the brain (click here to read more). And Dr. Jan Nolta’s lab at the University of California, Davis, is experimenting with ways to use stem cells to introduce siRNA into the brain. For an overview of HD and gene silencing, see the excellent article by Dr. Jeff Carroll.
Isis and Alnylam operate a joint venture, Regulus Therapeutics, to research microRNAs, an even more recent discovery also involving RNA interference.
HD researchers aren’t banking on any one of these initiatives as the sole solution to HD. Although one of them could indeed turn out to be the “cure,” most researchers speak of the likely need for an HD “cocktail” of drugs that would stop or at least reduce the many harmful effects on the brain caused by HD.
Seeking patient input
To assist with the HD project, last November Alnylam signed an agreement with CHDI, a multi-million-dollar effort backed by an anonymous donor. CHDI is pumping money into the project and lending its expertise in Huntington’s disease.
The crucial CHDI collaboration will reinforce Alnylam’s efforts to design a safe Phase I trial.
To that end, Alnylam is also seeking to learn more about the patients and gene-positive people whom it hopes to benefit.
After watching my keynote speech at CHDI’s Sixth Annual HD Therapeutics Conference in Palm Springs, CA, on February 7, Dr. Sah invited me to give a similar presentation at the company. My May 17 visit inaugurated a new Alnylam initiative to involve patient advocates in order to put a human face on the conditions they seek to alleviate.
During the Q & A after the speech, attended by about 50 people, Alnylam executives and scientists were anxious to hear my opinion about several aspects of clinical trials.
The desire to function normally
One scientist wanted to know what people affected by HD community would consider to be a successful treatment. Obviously we all want a “cure” that completely eliminates the disease, I responded. But short of that, we need something that would at least allow us to continue to function normally. If someone suffered from chorea (the shaking and trembling caused by HD), a good drug would at least prevent that person from also losing the ability to think and speak.
We also need a drug that would prevent HD from erasing an individual’s personality by preventing the behavioral, emotional, and cognitive problems. HD, I said, had stolen my mother’s personhood.
One doctor asked: what if we fail and no treatment results from this experiment?
I responded that I recognized that failure is a part of science. You don’t know if something will work unless you try it, and if it fails, then you know it’s time to proceed to other alternatives.
However, I told the audience that I personally do not think about failure. The project must succeed! At that, many people nodded enthusiastically, and one of the executives said: “We agree with you!”
At that moment, I felt a special bond with everybody in the room. We were all rededicating ourselves to the quest for the cure – although everybody also recognized that failure remained a distinct possibility.
Avoiding hurdles, gaining speed
Afterwards I met with CEO John Maraganore, Ph.D., President and COO Barry Greene, Dr. Sah, Doug Macdonald, Ph.D., of CHDI, and Jules Greenwald, the development director for the Huntington’s Disease Society of America (HDSA). I took the opportunity to interview Maraganore and Greene.
Both stressed the need to prepare an effective Phase I application to the FDA and to convince the agency of the urgency of getting an siRNA treatment to HD patients.
“It’s important for us to have a dialogue, which includes patient advocates, with the FDA and other regulatory agencies, so that they appreciate the significant burden that the disease has on patients and their families,” Greene said.
“I think they know the disease, but they don’t really know the face of the disease,” Dr. Maraganore said.
Barry Greene (left), Gene Veritas, John Maraganore, and Dinah Sah
Much of the upcoming discussion with the FDA will revolve around the question of how fast Phase II and Phase III of the trial can go. If the FDA requires an extremely long efficacy study – from seven to ten years – the costs could become prohibitive and scare off funding sources, like investors, Greene explained. For patients and success, “speed really matters,” he said.
Another crucial question involves determining “endpoints.” In this case, an endpoint would be an observable change in a specific symptom and/or a change in the level of defective protein in the brain cells or some other marker of the drug’s effects (biomarkers).
Measuring huntingtin protein levels would likely prove the quickest endpoint, although it’s not clear if a lower level of huntingtin in humans will diminish symptoms the way it has in mice.
“We … want to have a testing approach that doesn’t create undue hurdles to the point where you actually make it so difficult to prove that something is maximally safe and maximally effective,” said Dr. Maraganore in summarizing the challenges. “So you want to have the right balance.
“The urgency? The need? I think you said it: You have more to lose now than ever,” he continued, referring to my race against time as I await a treatment. “That’s the level of urgency that needs to be put into this equation in terms of how these medicines are developed. That can only be said by a patient."
Hanging out with the scientists
My day at Alnylam was one of the most intense of my entire life. This article doesn’t even scratch the surface of what I experienced.
But Alnylam also planned some relaxation.
I enjoyed hanging out with the scientists at lunch and dinner, and I was impressed by their humanity and openness to new and different perspectives.
I had contemplated removing from my speech a mini-meditation exercise involving a demonstration of deep breathing, and also my discussion of the question of God, HD, and the Jesuit priest-scientist Teilhard de Chardin. But I was glad I didn’t. To my great surprise and joy, Sara Nochur, Ph.D., the Vice President for Regulatory Affairs, had read Teilhard’s works, and her husband had just completed a book on the topic of the link between science and the transcendental and also knew Teilhard’s writings. As we walked back in the rain to the office, Dr. Nochur and I compared notes on meditation and breathing as coping mechanisms.
At dinner Martin Goulet, Ph.D., who handles non-clinical experiments in the Alnylam lab, and I talked about our families. He has a girl about the same age as my HD-free ten-year-old daughter.
Dr. Martin Goulet (right) at work on the Alnylam HD project (photo by Gene Veritas)
Getting out the word on trials and the cause
Over the next few days, I excitedly told other people in the movement that I had held ALN-HTT in my hand. I felt like an apostle spreading news of a religious revelation.
My journey did not end at Alnylam. On May 18 I flew to New York City for meetings with other leaders of the HD movement. That day I visited CHDI headquarters in Manhattan, where communications director Simon Noble, Ph.D., and I discussed at length ways of getting out the word about the need for involvement in upcoming clinical trials.
On May 19, I spent most of the day at HDSA. I gave an informal talk to the staff about my situation and advocacy. I also interviewed CEO Louise Vetter, now in her third year at HDSA. In line with the theme of clinical trials, we discussed the HDSA Clinical Trial Ambassador program, which will utilize experienced members of the HD community to promote awareness about the trials and answer potential participants’ concerns.
On May 20, I traveled to Princeton, NJ, to interview scientists from CHDI’s clinical trials division.
The visit began with an informal brainstorming session at the home of Maria Beconi, Ph.D., the director for drug metabolism and pharmacokinetics (how drugs are absorbed, distributed, and excreted from the body).
After we consumed pizza, soft drinks, brownies, and cupcakes, Maria introduced me. I thanked the team for its commitment to HD research and explained that I was tracking the social history of the HD movement and the work of the scientists towards treatments and a cure.
I’ll be writing more about this issue and the CHDI unit in a future article.
In New York I met up twice with my friend and “HD alter ego,” Norman Oder, who edits this blog. We caught up on each other’s lives, and we discussed strategies for broadening the message of the HD cause.
Alnylam: passionate about HD
In 2008, when I first studied the Isis HD project, I fantasized about wearing a drug-injecting pump on my head. That was a somewhat inaccurate fantasy, because the pump would not be located on the head itself, but in the abdomen. Isis plans to use this kind of system. But even if it were located on the head, I would gladly use it – or any other device in any other location, for that matter.
Likewise, I would happily accept the implantation of an ALN-HTT pump in my abdomen. My need to avoid HD far outweighs any potential inconvenience caused by such devices.
I came away from Alnylam energized by its scientists’ seriousness, intelligence, practicality, and commitment to stopping HD. “We are very passionate about this disease and finding a cure for it,” Dr. Maraganore told me at the end of our interview.
Dr. John Maraganore (Alnylam photo)
Dr. Maraganore told me that Alnylam will likely call on me again, as well as other patient advocates, to offer advice on the design of the clinical trial and to put a human face on the disease for the FDA.
Holding the cure is not enough
During the Q &A after my speech and the interview with Maraganore and Greene, I had an uneasy sensation in my gut. Alnylam’s scientists wanted not only to learn about my personal struggle against HD: they also wanted me to become involved in the strategizing for a clinical trial. I suddenly felt myself taking on a new, challenging, and immense responsibility in my HD advocacy. Though I have no training in science, I need to increase my knowledge of HD, the research for treatments, and the clinical trial process.
Dr. Maraganore observed that, as a result of Alnylam's new collaboration with CHDI, the company was "smarter about what we need to do" to get ALN-HTT into trials. "By being smarter, we're going to be faster," he added.
I, too, felt a bit smarter after meeting the Alnylam team. And I need to get even smarter as we all move together towards this potentially historic treatment.
Holding the potential cure in my hands is just the beginning. I must do my part to help get that cure into our patients and ultimately into me.
(Note: because Alnylam invited me to speak and visit its facility, the company paid for my round-trip airfare to the East Coast, my hotel in Cambridge, and meals related to the visit. I maintained the right to express my opinion in this and other articles on the HD project. )
Wednesday, May 11, 2011
The Huntington’s community rising and converging
In the quest to end one of humanity’s cruelest conditions, the Huntington’s disease community is coalescing as never before. 
Dr. Vicki Wheelock, director of the UC Davis Center for Excellence (photo by Gene Veritas).
In the evening, I dined at a Sacramento restaurant with Dr. Wheelock, Teresa, chapter president Judy Roberson, family services chair and former president Les Pue, and other participants in the annual Northern California Chapter convention, held the next day and coinciding with HD Awareness Month.
The audience at the 2011 HDSA Northern California Chapter convention (photo by Gene Veritas)
I was deeply moved by Stacy’s presentation. Listening to her, I was transported back to the harrowing moments that my wife and I experienced as we pondered our own extremely difficult decision (in late 1999 and early 2000) to have our child tested in the womb. This was before the availability of PGD. Our “miracle baby” tested negative.
Dr. Raheel Khan speaks on emotional and behavioral problems in HD (photo by Gene Veritas).
Accompanied by husband and board member Terry, Cheri Harries approaches podium to receive "HD Person of the Year" award (photo by Gene Veritas).
As one individual commented on this blog last year, our community is "rising and converging."
We have traveled a long road.
Before the founding of the Huntington’s Disease Society of America (HDSA) in 1967, nobody advocated for the well-being of HD patients and their families. Huntington’s disease was shrouded in a combination of stigma and ignorance.
Today four organizations dedicate themselves to the cause: HDSA, the Hereditary Disease Foundation (HDF), the Huntington’s Disease Drug Works program (HDDW), and the CHDI Foundation, Inc., informally known as the “cure Huntington’s disease initiative.” They have brought great hope for treatments and a cure. Britain, Canada, and many other foreign countries also have important HD associations.
HDSA, solidarity, and the Web
Thanks especially to HDSA’s work over the decades, public awareness of this killer disease has increased, although HD is still far from being a household word.
HDSA has also promoted community solidarity, from the very first local support groups of the late 1960s to the organization’s 26th national convention, scheduled for June 24-26 in Minneapolis, MN. In late 1995, after receiving the shocking news that my mother had HD, one of my first phone calls was to the local HDSA chapter. The chapter president compassionately explained the potential implications of my mother’s diagnosis for my own future and invited me to attend the support group.
With the power of scientific knowledge and the reach of the Internet, members of the HD community have strengthened their ties and promoted the cause. People today can learn instantly about the many aspects of Huntington’s disease from numerous informational websites, YouTube, and the portals of the primary HD organizations.
I frequently refer to Stanford University’s Hopes site, the Huntington’s Disease Advocacy Center, and HD Buzz. Communication also takes place through social networking sites and chat rooms. Thousands of people interested in HD belong to Facebook, where they can find support and information.
HDDW even conducted a clinical trial via the Web. I logged in regularly to perform cognitive tests on my computer keyboard. Because I am gene-positive for HD, HDDW founder Dr. LaVonne Goodman reviewed my performance to check for possible signs of symptoms. So far, I remain free of HD’s classic symptoms, although the scientific research indicates that the genetic defect most likely is already damaging my brain.
A chapter and a major stem-cell project
For many in the HD community, the lifeblood of the movement is their local HDSA chapter and support group. HDSA has more than 30 chapters and affiliates around the country, many tied to an HDSA Center of Excellence for Family Services and Research.
On May 6 and 7. I paid an emotion-filled visit to the Northern California Chapter (which includes Sacramento, San Francisco, and the northern part of the state) and observed a critical mass of HD-related activities.
On May 6, I spent the day interviewing Jan Nolta, Ph.D., and observing the work of the stem-cell research facility she directs, the Institute for Regenerative Cures, co-funded by the University of California, Davis (UCD), and the California Institute for Regenerative Medicine (CIRM). This 109,000 square-foot facility supports the work of 145 faculty researchers organized into 15 disease teams, including heart disease, blood disorders, HIV, Alzheimer’s, Parkinson’s, Lou Gehrig’s, and Huntington’s.
Dr. Nolta and her HD team have used a well-known type of stem cells, called “mesenchymal stem cells” (MSC), to develop two potential treatments for HD.
Dr. Nolta refers to the MSC as “paramedics” because of the way they congregate around and repair damaged cells. Injected into the brain of an HD patient, the MSC might be able to repair damaged neurons (brain cells) and restore the vital connections between them.
Dr. Nolta at the HD bench at the Institute for Regenerative Cures (photo by Gene Veritas)
Dr. Nolta and her HD team have also reengineered MSC to deliver small interfering RNA molecules directly into cells in order to stop the mutant huntingtin protein from causing damage. She has obtained a patent for this technology, hoping to later negotiate an agreement with a pharmaceutical company that would produce and market an MSC drug. If successful, this approach would stop the cause of HD at its genetic roots.
At the Institute for Regenerative Cures, I felt excited as I took a step into the future of medical treatments. I will provide a detailed report on the HD research efforts in a future article.
A record turnout
With nurse practitioner Teresa Tempkin as my guide, I also toured the HDSA Center of Excellence at the UC Davis Medical Center. I viewed the consultation rooms where Teresa, center director Dr. Vicki Wheelock, and a team of other physicians and healthcare specialists attend to the roughly two hundred HD patients living in the region.
By introducing Dr. Nolta to the HD community, Dr. Wheelock helped make HD research a priority of the Institute for Regenerative Cures.
Dr. Vicki Wheelock, director of the UC Davis Center for Excellence (photo by Gene Veritas).In the evening, I dined at a Sacramento restaurant with Dr. Wheelock, Teresa, chapter president Judy Roberson, family services chair and former president Les Pue, and other participants in the annual Northern California Chapter convention, held the next day and coinciding with HD Awareness Month.
The chapter’s annual meetings date back to at least 1991. In 2000, the chapter upgraded them to convention status, now held at the UC Davis Medical Center campus. Starting in 2009, the chapter has received financial assistance from Lundbeck, a Denmark-based pharmaceutical firm that markets Xenazine (tetrabenazine), the first-ever FDA-approved drug for chorea, the shaking and trembling that occurs in many HD patients.
This year’s convention attracted a record number of attendees, with 197 official registrants and about eight or more other participants – yet another indication of the rising and convergence of the HD community. People from Lundbeck, Stanford Hopes, and other HD-related initiatives staffed information tables.
The audience at the 2011 HDSA Northern California Chapter convention (photo by Gene Veritas)
HD-free with PGD
The convention featured eight morning workshops divided into two sessions. All were compelling.
The first session I attended, “All About Preimplantation Genetic Diagnosis for HD Families,” was presented by Stacy Brookhyser, the gene-positive, 35-year-old mother of twins free from HD after she and her husband opted for the preimplantation procedure, known as PGD.
“When I started this journey, I was newly married, and at risk,” Stacy told the audience, which included her HD-stricken mother. “I hadn’t tested, and I didn’t know what to expect, but I knew about the at-risk status. I knew that if my husband and I went ahead had children naturally, that my children, of course, would have a chance of inheriting Huntington’s.”
The decisions about her HD test and PGD were “daunting,” Stacy added. During the rest of the presentation she recounted how they researched the various options for starting a family, considered their personal and moral beliefs, and went through the medical procedures necessary in PGD.
You can watch Stacy’s presentation in the video below, and you can learn more about PGD by visiting her website, www.HDFreeWithPGD.com.
All About Preimplantation Genetic Diagnosis for Huntington's Disease Families from Gene Veritas on Vimeo.
I was deeply moved by Stacy’s presentation. Listening to her, I was transported back to the harrowing moments that my wife and I experienced as we pondered our own extremely difficult decision (in late 1999 and early 2000) to have our child tested in the womb. This was before the availability of PGD. Our “miracle baby” tested negative.
I am glad that families today have access to PGD, although it continues to be a highly expensive procedure that is not always covered by insurance. Stacy’s PGD cost $30,000, with insurance picking up most of the cost. However, as she pointed out, that sum pales before the cost to the health system of caring for an individual with HD – not to mention the lost income and suffering experienced by the family.
Emotional and behavioral symptoms
I was anxious to attend the talk by psychiatrist Raheel Khan on “Dealing with Emotional and Behavioral Changes in HD.”
I have read on many occasions that these symptoms often appear first. My mother’s first apparent symptoms, including seemingly inexplicable mood swings and crying, fell into this category.
As a gene-positive individual, I wanted to know what might lie in my not-too-distant future. I want to prepare effectively by learning what to anticipate and how to help my family understand how they might need to assist.
Defining HD as a “classic ‘neuropsychiatric’ disorder,” Dr. Khan outlined the many conditions faced by HD patients, including depression, delirium, loss of interest in daily activities, apathy, anxiety, irritability, and many psychotic symptoms such as hallucinations, delusions, and disorganization.
Dr. Raheel Khan speaks on emotional and behavioral problems in HD (photo by Gene Veritas).
A depressing scenario
Dr. Khan spent a good part of the time on depression, which, he said, occurs in 30 to 50 percent of all HD patients. To paraphrase him, this is a very high percentage. When you have depression, it’s tougher to cope with the underlying disease. This worsens the course of the HD, so this aspect must be treated. Depression is insidious. The person rarely experiences their situation as a symptom. It’s up to the caregiver or family member to point out the changes to the patient.
Indeed, Dr. Khan made it very clear that assistance from family members and caregivers is crucial in dealing with this aspect of HD.
One caregiver in the audience wanted to know how to assist an affected loved one who refused to take psychiatric medication.
One solution is to pose the psychiatric condition as a part of the disease and tell the patient of the need for help, Dr. Khan responded. This, he added, was a very common problem.
“People still call me a shrink all the time,” he said, noting the stigma that still exists for psychiatric care. Unfortunately, he added, a person can’t be forced to see a psychiatrist. The psychiatric problems should be raised during a regular checkup, and the attending doctor should pointed out that he or she is the one visiting the patient, not the patient visiting the physician, Dr. Khan explained.
Just hearing about such a plethora of potential psychiatric symptoms – and writing about them again now – leaves me depressed. What if I suffer from some combination of these symptoms? What if I resist medication? I do not want to be a burden on my family. As sad and difficult as the task is, I must prepare my family for this scenario.
Connecting to HD people
With multiple emotions flowing after hearing Stacy and Dr. Khan, I wanted to end the threat of HD for my family and for everybody at the convention. Over lunch, I sat with three HD people and their families.
At the start of the afternoon session I watched chapter representatives present HD patient Cheri Harries with the Joseph P. Roberson Foundation’s “HD Person of the Year” award for her commitment to the chapter and her exemplary perseverance against the disease. She is the wife of chapter board member Terry Harries.
Accompanied by husband and board member Terry, Cheri Harries approaches podium to receive "HD Person of the Year" award (photo by Gene Veritas).
In our fight I felt connected to all of these individuals – and I wanted to do my part to win it.
‘It’s time to conquer HD!’
I got my chance to contribute as one of two featured speakers in the afternoon session, held in the main auditorium of the UC Davis MIND Institute. (MIND stands for “Medical Investigation of Neurodevelopmental Disorders,” such as autism.)
I titled my speech “A Gene-Positive Activist Copes with the Threat of Huntington’s Disease (Fighting Back).” As in my big coming-out keynote address at CHDI’s 6th Annual HD Therapeutics Conference on February 7, I once again took off the mask of Gene Veritas to reveal my true self to the audience.
I spoke extemporaneously about my mother’s downfall, my father’s caregiving as an “HD warrior,” my advocacy for the cause, and, finally, pointers on effective activism.
I felt deeply connected to the standing-room-only audience. Many HD people and their families looked on, and people responded with great passion and enthusiasm. When I announced that our daughter had tested negative, the audience applauded. They applauded again when I recalled how I had removed the mask for the first time at the CHDI conference. Afterwards John, a shaking HD man in his 60s, hugged me several times like a long-lost brother.
You can watch my speech in the video below.
Gene Veritas: Fighting Back Against Huntington's Disease from Gene Veritas on Vimeo.
“It’s time to conquer Huntington’s disease!”
Stopping the culprit
Doug Macdonald, Ph.D., CHDI’s director of drug discovery, closed the conference with a presentation titled “Huntingtin Suppression: An Exciting New Therapy Being Developed at CHDI.
Dr. Macdonald explained the efforts to reduce the actions of the defective huntingtin gene and its resultant, harmful protein, the culprit in HD.
Dr. Macdonald brought hope: Isis Pharmaceuticals, Inc., of Carlsbad, CA, and Alnylam Pharmaceuticals of Cambridge, MA, are both preparing to test potential huntingtin suppression drugs in humans within the next couple years.
Like Dr. Nolta’s approach, the Isis and Alnylam drugs would represent a revolutionary advance in the treatment of HD by attacking the genetic roots of the disease. Currently these approaches come the closest to a “cure,” although HD patients most likely would have to take such drugs their entire lives.
You can watch Dr. Macdonald’s presentation in the video below.
Stopping the culprit in Huntington's disease: talk by Dr. Doug Macdonald from Gene Veritas on Vimeo.
I came away deeply inspired by the HD movement in Northern California and reenergized in my advocacy. The annual conventions provide a fine model for other chapters and disease organizations, as does the powerful convergence of efforts by the Center of Excellence, stem-cell researchers, the HDSA chapter, Lundbeck, and the HD community.
I also felt gratitude for Lundbeck’s sponsoring of this event and the many other HD-related activities it has supported in recent years.
I’m looking forward to my next step: a speech at Alnylam on May 17 and interviews with the scientists on its HD team.
Inching towards our goal
At the end of the day, as we chewed the fat about HD matters and shared a bit of our life stories, Les Pue graciously drove me into San Francisco. There I met up with my wife and our child. Turning 11 next month, our daughter had crossed the Golden Gate Bridge earlier in the day for her Girl Scout “bridging ceremony,” which symbolizes a new level of commitment to the organization.
I was thrilled to see my family after such an intense weekend. Sitting with my wife at a restaurant on Fisherman’s Wharf, I thoroughly enjoyed eating clam chowder in a sourdough bread bowl and sipping a tall glass of Stella Artois draft beer.
The battle was not yet won, but I felt our community had inched a bit closer to our final goal.
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