Riding the
emotion of a keynote speech by a young scientist at risk for Huntington’s
disease, and seeking treatments with the immense help of a non-profit
foundation, the participants at a historic research conference this week
witnessed the fusion of science and human solidarity ultimately necessary for
defeating HD.
On the evening
of February 23, I and the approximately 300 attendees at the 10th Annual HD
Therapeutics Conference, sponsored by the CHDI Foundation, Inc., listened
as Jeff Carroll, Ph.D., recounted his mother’s demise from HD, his positive
test for the HD genetic mutation, and his decision to pursue a career in
science to save himself and others from HD.
“He’s an
interesting combination of things in terms of being an advocate in the
community, in terms of being someone from an HD family, in terms of being a
top-flight researcher in the HD community, in terms of being a great
communicator – he and his partner Ed Wild – in establishing HDBuzz, which
is just a tremendously useful model of how to communicate results out to the
rest of the community,” Robert Pacifici, Ph.D., CHDI’s chief scientific
officer, said in introducing Dr. Carroll at the conference in Palm Springs, CA.
As an HD
researcher-advocate who has attended all ten therapeutics conferences since
2006, Dr. Carroll offered a uniquely qualified, candid assessment of the
progress towards treatments and CHDI’s role in the process.
“Every year, I
come home revitalized and energized by the site of so many smart people working
so hard on this problem,” Dr. Carroll, 37, told the audience in the main
ballroom at the Parker Palm Springs hotel. He expressed his profound
gratitude to CHDI, which has funded his and numerous other scientists’ research.
Painful progress toward success
However,
success depends on the “efficient and timely completion of well-designed Phase
III trials with HD drugs,” Dr. Carroll continued.
“A few weeks
ago I attended a meeting at the Princeton CHDI office that included attendees
from major pharmaceutical companies currently running HD clinical trials,” he
said. “They are deeply concerned about something that would never have occurred
to me to worry about, which is poor recruitment for trials of Huntington’s
disease drugs.
“On
reflection, it makes sense that the HD community may be wary of the way we have
been speaking to them. Participating in the first clinical trial of a new
molecule might be exciting, but participants of the third could be excused for
having some questions.”
Trial
administrators put participants through a daunting number of tests, he observed,
which may discourage people from participating in more than one trial. Because
trials are extremely expensive, sponsors often try to maximize the findings in
Phase II, but not enough trials are reaching Phase III, he added.
“It must be
said the scale of what is possible here must be unique in human history,” Dr.
Carroll said of the efforts by CHDI, which has put more than $700 million
towards treatments. “Resources on the scale being deployed by CHDI have been
spent on common diseases, but never before have they been spent on such a
focused attempt to ameliorate a rare disease.”
The HD
community will achieve “something never done before” or “fail majestically,” he
quipped with irony.
He added: “We
might actually be watching the painful progress toward success.”
You can watch
Dr. Carroll’s speech in the video below.
None of Us Are Free Until We Are All Free: A Keynote Speech on Huntington's Disease by Dr. Jeff Carroll from Gene Veritas on Vimeo.
Our brothers and sisters
After Dr.
Carroll and his wife Meghan had HD-free twins, thanks to preimplantation genetic diagnosis (PGD), he believed that “HD is done killing people in
my family until I am gone,” he recalled.
However,
recently two at-risk babies were born in his extended family.
“For a brief window,
my family was the last that had to face this awful threat,” Dr. Carroll said.
“But the arrival of these children has reminded me that none of us are free
until we are all free.”
We must “raise
up those of our brothers and sisters still suffering,” he concluded.
Like me, Dr.
Carroll is racing against the genetic clock.
Crying for our community
This
conference, my fifth, has proved especially poignant for me personally – even
more so than the 2011 meeting, which I keynoted. In terms of the quest
for HD treatments, it has been a landmark event. (My next article will
provide an overview of the conference’s scientific aspects.)
I was both
deeply saddened and heartened by Dr. Carroll’s story. I relived my own mother’s
death from HD in 2006, my positive test for the gene in 1999, and my daughter’s
negative test for HD in the womb (PGD was unavailable) in 2000.
It was one of
the best speeches I have heard in two decades of observing the HD movement. Dr.
Carroll tempered his enthusiasm and compassion for the HD community with
hard-nosed, no-nonsense scientific analysis.
For the
evening of February 25, the conference organizers arranged for a surprise outdoor
screening of the 28-minute documentary The
Lion’s Mouth Opens, about actress, director, and producer Marianna Palka’s
positive test for HD. The film made the 2015 Academy Awards shortlist for Best
Documentary Short.
As part of the
surprise, Marianna, whom I had met earlier in the day, took questions from the
audience. She appeared at the edge of the crowd, next to me, just as the film
was ending.
Gene Veritas (left, aka Kenneth P. Serbin), Marianna Palka, and Louise Vetter, CEO of the Huntington's Disease Society of America (photo by Jerry Turner, CHDI)
It was a
highly emotional experience for me. Filled with anger, frustration, and
overwhelming sadness that a young person like Marianna should have to face HD,
and once again reliving the trauma of my own HD test and the excruciating
experience of testing our daughter, I hugged Marianna and cried uncontrollably for
several minutes as she held and consoled me.
It’s so unjust that people have to face
HD, I thought to myself.
I hardly ever
let myself think that, trying to be strong, but at that moment I allowed myself
to do so, and also to let loose all of the powerful emotions of the conference.
I told
Marianna I was so sorry for her.
Marianna, who is just 33, was strong, telling me
that we would all work together against HD.
After the film
finished, Marianna talked with the audience about her experience of genetic
testing, her strategies for staying healthy, and her work in film. She observed
that The Lion’s Mouth Opens makes men
cry.
You can watch
Marianna’s exchange with the audience in the video below.
Enrolling families in the fight
At the start
of the conference, I had lunched with Joe Giuliano, the CHDI director of
clinical operations in Princeton, N.J., HD advocate Jimmy Pollard,
and Chris Brown, a scientist from Evotec, a drug discovery company headquartered in Germany.
We pondered
the same critical issue raised by Dr. Carroll, and that brave advocates like
Marianna impel us to consider: how to inspire more families in the HD community to
become involved in research studies and clinical trials.
I recalled my
own speeches and blog articles about the terrible barriers to greater involvement:
ignorance, fear, denial, stigma, and family tensions.
Giuliano is
also the chief CHDI administrator for the Enroll-HD program, a global
platform, research project, and HD patient and family registry aimed at facilitating clinical trials and the
discovery of treatments. As Giulano and others have noted, it is not scientists
who cure diseases, but the patients who participate in clinical trials.
That
observation provides a fitting coda to Dr. Carroll’s speech.
And it
underscores the absolute necessity to fuse science and solidarity in the fight
against not just HD, but all diseases.
For an update
on Enroll-HD, watch my interview with Giuliano below.
A personal landmark, and gratitude
With this
article I have completed my own HD milestone: it is the 200th post in this
blog.
I am grateful
to so many: God, my wife and daughter, my HD-victimized mother Carol Serbin, my
HD-warrior father Paul Serbin, who died with a broken heart in 2009, CHDI, and
the entire HD community.
Although I
worry that my overly emotional response to the conference could signal the mood
swings characteristic of early HD onset, I am also grateful that I remain, according
to my last neurological checkup, asymptomatic.
As I prepared
to depart the conference, I pondered how the HD movement can reinforce human
solidarity and our bond with the researchers.
3 comments:
There is a clinical trial in Massachusetts General Hospital that can help those has the mutated gene. They have a a high dose treatment with nutritional supplement creatine. I am not eligible for the study last year.
http://www.massgeneral.org/about/pressrelease.aspx?id=1674
Ken!!!
I finally got to meet you in person!!!
I just want to pass on one observation about YOU to some other longtime readers of your work who may not have had the opportunity to see themselves. I have never seen anyone work harder and longer at a conference than you did in Palm Springs, and that includes professional career science withers covering them. Interviewing, recording, writing, tracking folks down, encouraging participants, lugging equipment around...you give a new meaning to "covering a meeting." I know it's a "labor of love," but, man, to the depth you do it, it's a lot of labor!!! The word "indefatigable" came to mind every time I saw you!!! A tip of the cap to you, Ken! Hope our paths cross again...but grateful this blog introduced us long ago!!!
Thank you so much for the work you do on behalf of HD! Coming from a community with only a couple of doctors who have specific knowledge about the disease, this blog, along with HD Buzz and a few other sites, have proven invaluable for providing information and hope! I do think it's imperative those families affected with HD get the information necessary to enroll in clinical trials. This is something missing in my family's struggle with HD.
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