The Huntington’s disease community can’t afford to lose momentum
in the quest for treatments for this incurable disorder.
As I noted in my last article, fatigue can set in for
advocates and family members. This is understandable, given the tiring demands
of caregiving, the frequent feelings of hopelessness in the face of the “devil
of all diseases,” and the immense challenge faced by scientists – and the
population needed to participate in drug trials – in devising revolutionary
drugs that reach the brain and prevent its cells from dying.
Interrupting my own momentum in writing a book in my field as a
Brazil specialist, I summoned the strength to once
again focus on HD. I traveled coast-to-coast twice in a little more than 72
hours to give a speech about a crucial upcoming HD clinical trial and to
interview a prominent scientist engaged in the search for treatments. It was an
intense time.
My trip on April 10 began inauspiciously, as a late departure
from San Diego caused us to approach Atlanta as thunderstorms struck, leading
the flight to detour to Birmingham, AL. Arriving in Atlanta close to midnight,
I had missed my connection to Providence. After finally finding a hotel 20
miles from the airport, I could only sleep four hours. The morning flight to
Providence also left late, because of tardy pilots.
Travelers do face such stresses, especially as service in the airline industry declines, but as a carrier of the HD gene mutation concerned about
disease onset, I especially need to avoid them.
As it became clear that I would miss my 9 a.m. keynote talk on April 11 in Norwich, CT, Laura
Kokoska, an advocate for the Connecticut affiliate of the Huntington’s Disease
Society of America (HDSA-CT) whose mother has HD, helped me via cell
phone calls and texts to calmly consider alternatives. She and another
advocate, Val Kim, whisked me from Providence to Norwich, serving me lunch in
the car. We arrived in time for me to speak in the last slot of the day.
The audience of some 30 was anxious to hear me provide an HD
family member’s perspective on one of the most significant steps towards
treatments since the discovery of the huntingtin gene in 1993: the Roche/Isis
gene-silencing trial, set to start this year at several sites in Canada,
England, and Germany.
HDSA-CT education event participants (from left to right): James McGann, Debbie Pausig, Gene Veritas (aka Kenneth Serbin), Laura Kokoska, Holly Broadbent, and Sue McGann
A historic attack on the genetic roots
I first explained how my mother’s demise from HD and my positive test for the genetic mutation in 1999 led me to delve into the science
of Huntington’s disease. Then I described how since early 2008 I have tracked
the program by Isis Pharmaceuticals, Inc., to stop HD at its genetic
roots. In 2013 Isis partnered with the pharmaceutical giant Roche to
prepare for a gene-silencing clinical trial in HD.
“This trial is a historic trial,” I said. “It’s a big moment in
the history of our community, and also in the history of science.”
Isis and Roche aim to test a drug known as an antisense
oligonucleotide (ASO). “That’s a fancy term for basically saying it’s an
artificial piece of DNA,” I continued. “That is [a] ‘laser-guided missile’ that
is supposed to go into the brain cells, and it will block the production of the
huntingtin RNA and the protein.[…] The protein is what is causing the problems
in the cell. They’re also thinking now that the RNA is also causing problems
within the cell, that they want to cut down the amount of the RNA, too.
“This clinical trial […] is the first time that someone is going
after the genetic roots of the disease,” I stressed. “That is an immense motive
for hope in our community.” And that’s why I’m so excited about the project and
follow it so closely.
Being realistic
I showed PowerPoint slides of photos of the Isis facility and the
company’s scientists, including Frank Bennett, Ph.D., the senior vice president
for research and the head of the HD project. I also noted the important support
for the project from CHDI Foundation, Inc., and the lab of Donald Cleveland, Ph.D., at the University of California, San Diego.
I reminded the audience that enthusiasm must be coupled with
patience: the HD community must recognize the time it takes to develop drugs
and also brace itself for failures in the quest for treatments. This year Isis
and Roche are initiating Phase I of the trial, aiming only to test the safety
and tolerability of the ASO.
Potential Phases II and III would examine the drug’s efficacy. In
all, it could take five years or more to complete all three phases.
“We have to be realistic,” I said. “Ninety percent of drugs that
go into clinical trials do not make it to market.[…] It takes a lot of shots on
goal before you finally get a goal.[…] We have to keep in mind that it’s a
slow, painstaking, and deliberate process.”
You can watch my speech in the video below.
Hope for Huntington’s Disease Families: The Isis/Roche Gene-Silencing Clinical Trial from Gene Veritas on Vimeo.
Returning to Yale
After the event I rode to New Haven with Debbie Pausig, a
marriage and family therapist, grief counselor, and HDSA-CT support group
leader. Debbie recently published An AffaiR Worth Remembering With Huntington’s Disease: Incurable Love & Intimacy During an Incurable Illness, a memoir of
her relationship with her late, HD-stricken husband. Debbie capitalized the “r”
in “affair” – and it’s reversed on the cover of the actual book – to emphasize
the many unusual twists in her story.
Later I visited the campus of Yale University, my alma
mater, and ate pizza at an old haunt. It was only the fourth time I’ve returned
to Yale since graduating with a B.A. in history in 1982. In 2012 I visited Yale
to interview a number of scientists working on HD (click here to read more),
including the preparation of clinical trials.
“Felt like an
undergrad again walking through freezing campus,” I
texted an old classmate while watching the students and remembering the
exhilarating possibilities of youth.
In my hotel room, mixing in baking soda and Epsom salt from a
care package put together by Laura, I relaxed in a hot bath. As Laura put it,
the bath would help my body recover from the traumatic plane trip.
Gene Veritas (aka Kenneth Serbin) outside Wall Street Pizza (formerly Naples) in New Haven
A science tour and lunch with old friends
The next morning I took a tour of Yale’s Magnetic Resonance Research
Center with its long-time director, Doug Rothman, who received
his Ph.D. from Yale in 1987. A professor of diagnostic radiology and biomedical
engineering at the Yale School of Medicine, Dr. Rothman is one of the world’s
leading pioneers in research in MRI, magnetic resonance spectroscopy, and
quantitative neuroscience with magnetic resonance.
A future article will detail my interview with Dr. Rothman about
his research into key questions about the mitochondria, the powerhouses of our
cells, and their role in HD.
I lunched with classmate Paul Bass and his wife Carole (Yale 1983), two former colleagues on the Yale Daily
News and accomplished journalists in New Haven. The Basses have long served as confidantes.
Paul’s innovative online community newspaper, the New Haven Independent, was one of the first sites to link
to this blog, and Carole blogged for the Yale Alumni Magazine about my definitive exit from the HD closet in 2012.
I welled with emotion at seeing my old friends, hearing good news
about their lives and young adult daughters, and sharing my joy at having
remained asymptomatic beyond my mother’s age of onset.
Paul and Carole Bass (photo by Gene Veritas)
Supporters of the HD cause
That evening in New York I dined with another Yale friend, Norman
Oder (class of 1983), and his girlfriend Maryanne. A journalist, editor, and
founder of the watchdog blog Atlantic Yards/Pacific Park Report, Norman urged me to start this
blog and has edited virtually every piece since its inception ten years ago.
During my 24 hours in New York, Norman and I had several deep
conversations about my future health, the destiny of this blog, and numerous
aspects of the HD movement. He is my “HD alter ego.”
On April 13, I had lunch with yet another classmate, Adam Glick, a businessman and
philanthropist who has generously supported the HD cause. Adam’s real estate
company owns the Parker Palm Springs, the hotel in Palm Springs, CA,
that expertly hosts the annual, CHDI-sponsored HD Therapeutics Conference when
it takes place in the U.S.
I gave Adam a rundown of the 2015 conference, which I attended.
We also discussed the “nocebo effect,” the
idea that the expectation of illness can bring on symptoms even though a person
is not ill.
I told Adam that last year two major supplements – coenzyme Q10 and creatine – thought to have potential for treating HD were
proven ineffective. I speculated that my belief in these supplements’ efficacy
might have contributed to my lack of symptoms.
Quiet resolve
At Maryanne’s suggestion, I visited the Museum of Modern Art
(MOMA) to view the special exhibition of Jacob Lawrence’s series of paintings about the great migration of African-Americans from the rural South to the urban North in the mid-20th century.
This significant event in our nation’s history is forgotten by many.
As a professional historian, I was both intrigued and moved by the tempera
paintings depicting the hardships of African-Americans in the South and the
brave decision by millions to uproot themselves to find a better life.
My teenage daughter, a first-year high school student, had asked
me to take photos of murals in New York. I didn’t have time to search for
murals, but Lawrence’s paintings are mural-like and tell a vast story. I will
soon show them to her.
Visiting MOMA gave me a break from the HD-laden aspects of my
trip. Yet I could not help but draw a parallel between the quiet resolve of the
migrants and the yearning of the HD community for liberation from the yoke of
Huntington’s disease.
Through such resolve we can maintain the momentum necessary for
defeating HD.
The African-American South-North migration of the mid-20th century as depicted in one of the paintings of Jacob Lawrence (photo by Gene Veritas)
(I wish to thank the individuals and organizations that organized
the conference and sponsored my trip: Sue McGann, HDSA-CT, and the Wireless Zone
Foundation.)
(Disclosure: I hold a symbolic amount of Isis Pharmaceuticals stock.)
