By Gene Veritas
Living at risk for Huntington’s disease frequently leaves me emotionally
drained. Sometimes I fantasize that it’s all just a nightmare from which I’m
about to wake up. Other times I wish I were a different person with just normal
worries, free from thoughts of suffering and death.
I discovered that my
mother had Huntington’s in 1995. I tested positive for the disease in 1999. I
attended her funeral in 2006. This year, on October 4, I held a memorial service
for my father, the Huntington’s disease caregiver-warrior who gave up on life
not long after her death.
It would be a vast understatement to say that
the last few years have been difficult. Life in the Huntington’s disease
trenches brings a steady barrage of troubling thoughts resulting from the death
of loved ones, abandoned dreams, and the underlying worry about when my own
symptoms will start and how my wife, daughter, and I will cope.
But at
the core of the human spirit lies hope. Each day I must summon that hope. As an
activist for HDSA-San Diego and at-risk
blogger, I have met this challenge for more than eleven
years.
Acting and living hope
I have learned that
hope is not just a feeling, nor fantasies about a better life, nor a fervent
prayer for the cure of HD – it's action.
I can’t just
feel hope.
I must
live hope.
As I wrote in my previous entry (
click here to read more), my HD activism has become the center of my life and
transformed me as person.
Understanding the
research
When I research and write about the efforts to find
treatments and a cure, I am building hope. The potentially most significant
effort at controlling HD happens to be occurring just a few miles from my home,
at Isis Pharmaceuticals, Inc., in Carlsbad, California (
click here to read my report). In 2011, Isis scientists hope to begin the first human tests of a
drug that would halt HD at its genetic roots.
I visited Isis last year
and again this past July to interview the scientists involved in the research
and shoot photographs of their work. Incredibly, the Isis project, which is
funded by the Los Angeles-based CHDI Foundation, Inc., is still relatively
unknown in the HD community.
I believe deeply in the need to understand
and monitor this project. The privilege of meeting and understanding the work of
these individuals gives me at least some sense of control over my own destiny. I
want to know exactly how this disease works – and exactly how the potential Isis
drug might work like a soldier within my brain cells to defend them against the
ravages wrought by my mutated huntingtin gene as it generates handicapped
proteins.
Electrifying news
Several years ago I
described how watching my mother struggle with her symptoms was like looking
into a “genetic mirror” (
click here to read more). I had inherited my defective huntingin gene from her and
would likely develop the disease around the same time she had – in her late
forties and early fifties.
I turn 50 this year. As Isis and many other
projects explore the intricacies of HD-affected cells and seek solutions for the
disease, I gaze into another kind of genetic mirror: a model of my own
compromised cells.
Not long ago people thought that the Isis approach
might be feasible around the year 2025. Back then every other possibility of a
treatment seemed at best partial, both limited in its potential effectiveness
and quite distant in the future. (
Click here to read about my “ups and downs” in waiting for a cure.)
The
first news about Isis two years ago came to me like a lightning bolt, and I want
to keep passing on that electrifying feeling to everybody else in the HD
community and beyond. Although nobody can guarantee that a potential Isis
solution will actually work, I want my articles on Isis to generate excitement
and hope.
Excitement and confidence
Now I am
preparing a series of articles on CHDI, which has become the prime mover in HD
drug discovery with a budget last year of $80 million. In a nutshell, CHDI is
like a miniature Manhattan Project to stop HD. The researchers’ excitement and
confidence are palpable.
I had a similar feeling on September 28, when
Dr. Jody Corey-Bloom, the director of the HDSA Center of Excellence for Family
Services and Research at the University of California, San Diego, revealed a
plethora of approaches for HD treatments during her annual research update to
the local HD support group.
One of the most inspiring HD presentations
that I have seen, Dr. Corey-Bloom’s report is a “must see” for everybody.
I posted it online the next day.
At the ninth annual HDSA Celebration of Hope Gala in San Diego
on October 17, the master of ceremonies, ESPN Monday Night Football anchor Mike
Tirico, briefly described the Isis project to the 500-strong audience and
congratulated the company on its efforts. Events like HDSA-San Diego’s “In the
Huddle” mainly focus on fun and fundraising, but the mention of Isis allowed the
science to shine through for a moment (
click here to watch the video I shot).
That moment became possible thanks to CHDI’s generous backer
and the many scores of HDSA fundraisers of all sorts and sizes held across the
country in recent years. They have kept the money flowing into the labs, where
scientists are hard at work on treatments and a cure.
We in the HD
community surely need a big shot of confidence after so many decades of
discrimination, ignorance, and lack of progress in the search for
treatments.
Hugging HD-affected friends
I always
come away from the gala emotionally wired. To see an important part of the local
community – including the president, coaches, and many players of the very
generous San Diego Chargers NFL football team – rally to our cause is a great
confidence-builder for our local HDSA chapter.
At the gala I also
encounter families affected by HD. I hugged two of my oldest friends from the
at-risk section of our support group. Both of them are now symptomatic and have
left their jobs. But they have fought every step of the way to minimize the
impact of their symptoms and to galvanize others into supporting our
cause.
Sharon just contributed an article to this website
about the 2010 Race Across America, in which her husband and three other men
will for the third time cross the country by bike in just eight days or less!
(
Click here to read more.)
Julie simply inspires me. We forged a friendship outside of
support group, and every year my family and I look forward to the holiday cards
she designs with one of her beautiful paintings on the cover. A few years ago,
before her symptoms started, Julie fought and beat breast cancer. Although she
has lost some of her stability and had to lean on her husband during the dinner,
we conversed normally. I was glad to hear that she is at work on yet another
painting.
The mystery of solidarity
Hugging these
sisters in Huntington’s disease is a deeply moving and mysterious experience. It
inevitably reminds me of my mother, but it is much more than that.
We
know one another so profoundly because of the genetic defect we share and all of
the sadness, loss, and discrimination that have resulted from that fact. I feel
sorrow for them as their symptoms progress. (I’ve heard Sharon say that she’s
not worried about herself, but about the future of her two teenage daughters.)
And I know that they fear for me and my family as we worry about my
health.
But I also gain strength in watching them persevere. By sharing
our experiences and building solidarity, we once again create hope for ourselves
and for the HD community.
Spiking adrenalin
Less
than 72 hours after the dinner I was scheduled to undergo my annual checkup at
the Center of Excellence. I started getting informal checkups around eight years
ago. I could do this because the people at the center knew me from my work for
HDSA. I wanted to keep HD out of my official medical record, because of my very
real concerns about potential discrimination.
Four years ago, however, I
decided to become an official patient so that I could go through the full,
formal workup all HD patients get on a periodic basis. I wanted to make sure I'd
get the best possible monitoring of my health and the best advice on how to care
for myself. Luckily, the Center of Excellence is separate from my health plan,
so my confidentiality is protected.
I awoke at 4 a.m. on October 20, an
hour and a half before my usual time and with my adrenalin already spiking. It
was going to be a long day at work before the 3:30 p.m. appointment at the
clinic. I wrote in my blog notes: “HD clinic today – yet one more reminder that
I could get very sick! How many times do I need to be
reminded?!”
When no change is good
Because I had
recently gone through numerous batteries of neuropsychological tests for HD
research experiments and done well, I entered the consultation room confident
that I could repeat my good performance. I successfully carried out the tests
administered by an assistant.
The doctor gently shook one of my hands up
and down in his hand while asking me to draw a circle in the air with my other
hand. He had me look up, down, left, and right without moving my head. He
checked my reflexes, and he had me stand still while he pushed me hard from the
back to see if I could maintain my balance. Finally, he had me walk down the
hallway and then return on a straight line in the same way that a cop checks a
suspected drunk driver.
The doctor supplemented these observations with
questions about other aspects of my health and a general conversation about my
life, my work, and my HDSA activism. He also reviewed the notes from past
visits.
The doctor had personally examined me on past visits. (Last year
I had been assigned a relatively inexperienced resident who mechanically
performed the examination and did not appear to have the more holistic approach
that this doctor had acquired, so I firmly insisted that I get to see him too.)
“I see no change over the past four years,” he concluded.
In an era when
Barack Obama made the word “change” a great national slogan, the phrase “no
change” provided great relief. I had survived another year without any apparent
overt symptoms of HD. Those symptoms could start at any moment and carry me down
quickly, as I saw in the case of my mother and many other HD patients. But for
now, at least, I can continue to function normally, enjoy my family, and carry
on with my advocacy.
I had worked diligently over the past year to get to
this point in stable health. Once again, with the assistance of the Center of
Excellence, I had created hope.
Another side to
HD
Shortly after I, in deep pain, wrote about my father's death,
Dr. Martha Nance, the director of the Minneapolis Center of Excellence, sent me
an article that she had just written and titled
“The other side of a dark disease." Two days ago, I finally had a chance to read it.
“There is
another side to HD … which needs to be told – a story of beauty, courage,
engagement and inspiration,” she wrote.
Dr. Nance recounts the valiant
actions of children coming to the aid of their HD-affected parents, communities
creating fundraisers and rallying around families touched by the disease, and
old high school buddies and rivals joining to help care for a former classmate
who has HD.
“As it passes from generation to generation, HD insinuates
itself into the fabric and history of a family and community,” Dr. Nance
concluded. “I have heard many stories of sadness, scorn, and hopelessness among
my patients. But I hope that these tales of humanity and generosity will serve
as a reminder that families, friends, and communities have the potential to do
great good – and that the goodness, in turn, will rub off on others in ways that
we may never know.”
Because a few people fearlessly stepped forward to
assist people with HD and raise awareness, thousands learned about the disease
and became an extended community of caregivers.
That, too, is how we can
live hope and create it anew each day.
Tags: Huntington's disease, Huntington's, tested positive, gene-positive, father, mother, daughter, at risk, hope, treatments, cure, symptoms, Isis, Isis Pharmaceuticals, CHDI, genetic mirror, Martha Nance, Jody Corey-Bloom, HDSA-San Diego, HDSA, Chargers, Race Across America, Center of Excellence, Obama