The number of clinical trials for Huntington’s disease treatments
has increased exponentially, pushing up the demand for volunteers. Now
advocates ask a pressing question: how to inspire more affected families and
individuals to participate?
I have addressed this theme with increased frequency in recent
years, as in my last two articles (click here and here to read more). As a
carrier of the devastating HD mutation who saw his mother succumb to the
disease, I feel in my gut the urgency to involve other members of the
community.
“If no patients or gene-positive people show up for trial
participation there will be no novel treatments, ever!” Daniel P. van Kammen, M.D.,
Ph.D., wrote in an e-mail in response to my articles.
For several years, I have maintained a dialogue on this topic
with Dr. van Kammen, from
2007-2011 the chief medical officer for CHDI Foundation, Inc., the
nonprofit virtual biotech focused exclusively on developing HD treatments. A
professor emeritus at the University of Pittsburgh, Dr. van Kammen currently
serves as an independent consultant for central nervous system (CNS) clinical
trial development.
“The notion that if you build it they will show up, just does not
work!” Dr. van Kammen continued.
“In general only 5% of people diagnostically eligible for drug development
study participation, do so. This is fine for a large population with Alzheimer’s. Not
for the HD community either at risk or diagnosed. So people have to come
forward.”
As he indicated, there’s a relatively small number of HD-affected
individuals, estimated at 30,000 in the U.S. By contrast, as many as 5 million Americans over age 65 may have Alzheimer’s.
Beyond that, a good number of HD-affected individuals cannot
participate in clinical trials because of so-called exclusion/inclusion
criteria. (I’ll write about this issue more in a future article.) So that
leaves an even smaller number of potential trial subjects.
The Enroll-HD program, the global
platform, research project, and family registry aimed at facilitating clinical
trials and the discovery of treatments, recently marked its 5,000th registrant
but needs as many as 25,000 more volunteers.
People deciding at their own pace
Over my nearly two decades of advocacy – my mother was diagnosed
in 1995 – I have learned that it’s important to respect the unique journey of each
individual touched by HD. Without that respect, we cannot begin to engage what
Dr. van Kammen described as a “scared population.”
From a pure research standpoint, the more at-risk people who test
for the HD gene, the better. Despite the enormous psychological burden of knowing
that I will develop HD, I don’t regret undergoing genetic testing.
I often wish that more individuals from the untested at-risk pool
– the vast majority of those people don’t get tested – would also test and/or
participate in programs such as Enroll-HD, which doesn't require that people learn their genetic status.
But then I remember how I wanted to get tested immediately after
learning of my mother’s diagnosis. I postponed the decision after receiving advice
regarding the discriminatory consequences of testing, and, more than three
years later, bit the genetic bullet because my wife and I wanted to know my
status before starting a family. Six months later our daughter tested negative for
HD in the womb.
What a journey!
When I meet people new to HD, I am aware that I can offer ample
advice based on experience. However, I stick to the basics, allowing them to
ask questions and share their stories and fears at their own pace. I remind
myself that testing for HD is often an extremely trying process, with
implications for the extended family. This personal decision requires time and reflection.
People new to HD are embarking on their own journeys based on
their backgrounds and particular point in life.
The same respectful approach applies in encouraging people to
attend a support group, visit the local HD clinic, participate in fundraising
activities, and enrolling in studies and clinical trials.
The dynamics can be complex. In the
face of HD, many families close ranks. However, many split, beset by fear,
denial, and the stigma of HD.
Activists’
self-respect
I have received enormous respect from my fellow HD advocates.
We activists must always remember to respect our own journeys.
At 55, I have passed the age of my mother’s HD onset. Each day without symptoms is a gift.
To maintain self-respect, I must allay guilt about doing too little for the cause. I especially feel
this way when missing a support group meeting or a local event of the
Huntington’s Disease Society of America (HDSA).
Lately I have also faced advocacy fatigue. However, seeing other,
often less fortunate families suffer from HD – like the young man holding his
HD-stricken grandmother or the family with members stricken by both adult-onset
HD and juvenile HD – leads me to gird myself again for the fight. On April 11, at
an HDSA educational event at the William W. Backus Hospital in Norwich, CT, I
will share my story and the hope offered by the upcoming gene-silencing clinical trial planned by Isis Pharmaceuticals, Inc., and Roche.
In re-engaging, I remind myself that my journey is unique, too, with my own
particular moments and needs.
Enjoying the present, planning the future
Twenty years into the cause and ever closer to disease onset, I
need to focus on my health, enjoying life, and my family.
With a sabbatical from teaching duties, I am also writing a
long-gestating book on Brazilian politics that I had partially put aside
because of my work as departmental chair the past five and a half years and my developing
interest in the history of science, technology, and medicine.
As our daughter approaches college age and my wife and I initiate
conversations about retirement plans, we are also focusing on shoring up the
family finances. As all HD families know, losing a working family member to the
disease not only severely reduces family income but also creates a caregiving
burden very costly in both time and money.
Luckily neither of lost our jobs in the Great Recession, but like
many Americans in the eroding middle class we have received little or no
increase in income during the recovery.
At 55, I also face the normal challenges of aging. Over the past
eight months I have struggled with a nagging elbow pain that has prevented me
from swimming, my preferred exercise and excellent for cardiovascular and brain
health. Luckily, with my doctor’s okay, I am back swimming, although the pain
continues. Because of pain elsewhere in the body, I have spent many an hour at
physical and occupational therapy sessions.
I want to remain as limber as possible to facilitate coping with
HD symptoms (more on this in a future article).
I also continue to exercise my mind. As I wrote to an old friend
regarding the recent tenth anniversary of this blog and its 200th article, “Writing for survival is
my motto.”
Affirming the good in our lives
Like many others in the HD community, my journey has deepened my
search for spiritual meaning.
I have added another book to my morning meditation, Gratitude Works!, a book
about gratitude journaling by Robert A. Emmons.
Writing regularly about the positive experiences in our lives
promotes a shift in awareness from “what we are lacking to the abundance that
surrounds us,” Emmons writes.
“Gratitude leads us to affirm and acknowledge the good things in
our lives,” he adds.
Our community has immense suffering, but is also has immense
good.
I am grateful for remaining asymptomatic today, for the many people
bravely struggling to come to terms with HD, and for the great respect the
members of the HD community have for each other as we live our unique moments
together.
I’ll be even more grateful when more people enroll in clinical trials. Yes, we may be a “scared population.” But we may also be a “sacred population,” one dedicated to a deeper purpose, helping to conquer this awful disease.
I’ll be even more grateful when more people enroll in clinical trials. Yes, we may be a “scared population.” But we may also be a “sacred population,” one dedicated to a deeper purpose, helping to conquer this awful disease.
6 comments:
Thank you for all you do to keep us up-to-date on Huntington's disease drugs in clinical development.
The link below is to a new article in Vancouver discussing the upcoming Isis Pharmaceuticals HTTRx clinical trials. It also highlights the assay for quantifying mutant Huntingtin manufactured by Promidis (which, as I recall, you highlighted in a previous blog entry).
http://metronews.ca/news/vancouver/1333888/new-drug-for-huntingtons-disease-to-be-tested-in-vancouver/
"Sacred," indeed.
Keep on keeping' on, my friend.
My husband has HD, and was all for joining trials, but as the disease progressed, involving mental illness, he has become unable to take part. Such a cruel disease, I urge anyone who is capable to help those that are not.
My 8 year old daughter is in rapid decline. I would love for her to participate. I understand the desire to protect children from the unknown but for terminal diseases I think that they should be allowed. All we have is hope. Another topic for another time perhaps.
In a speech to an audience of researchers and HD families, my husband said, "Imagine a world without clinical trials. That would be a world without hope. A world with clinical trials gives us a reason to be hopeful." I share our community's desire that more at-risk individuals would be tested and volunteer for clinical trials. Knowledge will not change the future, but it can allow us to make realistic plans and offer us the opportunity to be pioneers in finding a cure for HD. HD may rob us of many things we value, but it offers us the chance to be generous and brave by helping to find a cure for HD.
Great blog as usual. I personally find it quite to deal with the fact that hd sufferers who present with the mental manifestation of the disease are excluded from any trials at all. Certainly in my experience this accounts for 50% of sufferers which reduces the 'pool' of volunteers even more. Bizarrely as well as then psychiatrists with no experience of hd often give them a cocktail of anti-psychotics, depressants, beta blockers and electric shock therapy, experimenting until they get the right combination of often powerful drugs which can make the hd symptoms worse. Sadly, have also found that the hd specialists often have little or no interest to in these patients (England)
Post a Comment