A diagnosis or positive genetic test
for Huntington’s disease has always meant a terrible, prolonged death sentence.
However, the vast, growing body of knowledge about the disease and the genuine hope
of clinical trials have opened the door to a more optimistic, proactive outlook
on HD.
That’s the message I’ve transmitted in recent speeches,
including one titled “Genuine Hope for Huntington’s Disease Treatments: New
Ways of Thinking about HD,” the keynote for the event “Living with
Huntington’s: An HD Education Day,” held by the North Carolina Chapter of the
Huntington’s Disease Society of America (HDSA) on May 12.
“It was a very, very hopeless situation,” I told the
audience in describing my mother’s diagnosis with HD in 1995 and my positive
test for the condition in 1999. We in the HD community kept hearing that there
was no “effective way of stopping Huntington’s.”
In recent years, however, the increase in research and the
promise of potential treatments have brought about “the transition from
hopelessness to hope.”
Read on for a summary of the speech’s main points. You can
also watch it in the video below.
2012 North Carolina HD Talk from Gene Veritas on Vimeo.
Our
lives are not lost
I drove home the idea of hope by discussing the worldwide
effort to end HD and the imminence of potential trials, including the one aimed
by Isis Pharmaceuticals, Inc., to silence the HD gene and expected to begin by
late 2013 or early 2014, and, if
successful, to result in a drug perhaps by 2020.
“These are real people in the labs,” I emphasized, showing a
photo of Isis scientists at the company’s Carlsbad, CA, facility. “We think of
scientists as people in these white coats, maybe wearing really thick glasses,
or having really pointy heads, sitting in a lab. But they’re everyday people
just like all of us, and they want to see the treatments.”
“It’s time for a new outlook,” I continued, recalling the
HDSA slogan “let’s make this the last generation with HD.” “That seemed like a
dream ten or 15 years ago, but now I think we’re closer to that becoming a
reality.”
Rather than slip into the old, depressing notion that HD is
untreatable, we now must embrace a new phrase: “HD will be treatable.”
“It’s more and more a question of not if, but when this is
going to happen,” I said, noting that scientists are now “genuinely optimistic”
about potential treatments. “We need to tell
ourselves everyday: there is hope, and my life is not lost.”
A
more proactive view of genetic testing, self-care
Because of the hope provided by research, fear of genetic
testing “can and should diminish,” I observed. Gene-positive people can plan
for the future by maximizing their physical, emotional, and spiritual health
and putting in order matters related to insurance coverage, career, finances,
and family planning.
They can and should also participate in current or future
trials requiring gene-positive, asymptomatic participants, I said.
“You can give back to the community at large by
participating in the search for treatments,” I added.
“So yes, testing is scary, there’s no doubt about it,” I
said. “But I think now testing is ultimately proactive. I think we need to turn
around the way that people think of testing as something so intimidating and scary,
a life-ending experience.”
Overcoming
denial, spurring participation
I began and ended the presentation with a reflection on the
roadblocks to our success.
“We know that there are a lot of HD families that could not
make it here or didn’t want to be here today,” I said. “Part of the reason
there aren’t more people in the room is because we struggle in Huntington’s
with a terrible stigma, and along with that stigma comes shame, fear, and one
of my worst enemies of all, denial.”
Denial affects all
of us because it discourages the participation in clinical trials and therefore
hinders scientists from effectively testing potential treatments.
To engage others in the process, we cannot preach or harass,
but must pursue a gentle approach. Most importantly, we need to live by example,
to keep telling our personal stories, “opening your heart to others” and educating them about the trials.
“We need to live optimistically, on a daily basis,” I
concluded. “Yes, HD is a terrible cross to bear. But I think that knowing we
can be part of the solution, that we can help the scientists, help the doctors
find a treatment, this is something that gives us a sense of purpose, gives us
a sense of being part of something larger than ourselves. It’s not just me,
it’s not just my family. It’s people around the world who are affected by
Huntington’s, and other conditions.”
(For additional thoughts about the new outlook on HD, please
click here.)
