When I write about my experiences living at risk for Huntington’s disease, the
themes usually hit me in the face.
But sometimes so much is happening
that it all seems like a big jumble in my mind, as if a hurricane is passing by,
threatening to fling heavy debris at me or to sweep me up in its powerful winds.
When I get this feeling, I feel I must hunker down and concentrate on the
essential aspects of life – such as survival and family – just as I once did
while taking shelter in the interior bathroom of a condo during a real
hurricane.
I started to get this feeling a couple weeks ago after talking
to a young man who has begun to experience HD symptoms. He had moved to San
Diego to seek assistance from HDSA-San Diego, and he had
some ideas he wanted to share about a project.
A couple of people in the
chapter tried to follow up with him but got no response. Finally, I decided to
call.
Just 22 years old
“How are you?” I asked,
trying to start of the conversation politely with a person I had never seen nor
spoken to before.
“Not good,” he said.
“Do you have HD?” I
asked.
“Yes. I just spent a week in the hospital because of psychiatric
problems from my HD.”
He didn’t even tell me his idea for a chapter
activity. It was now irrelevant because of his medical difficulties. He was
leaving San Diego in a few days to return to his hometown in another
state.
“There’s nobody here to take care of me,” he said. “I can’t take
care of myself anymore, and my family back home is going to care for
me.”
He was only 22. HD had cut him down at the start of his life,
precisely at the moment when people dream of a better future for themselves and
for the world, a time when most people feel invincible. Unless an effective
treatment or cure is found, he likely will die before he is 40, after many
grueling years as a witness to his own demise.
Wanting to reach
out
I thought of how lucky I have been to have approached 50
without suffering any overt symptoms of Huntington’s. I wanted to spring into
action immediately. I wanted to interview this young man and present his words
and photograph to the blogosphere. I wanted to redouble my efforts to make sure
that neither
I nor anybody else faces the same
fate.
The young man departed without me having a chance to follow up, and
I turned my attention to other HDSA matters.
I especially needed to
return to my reportage on the project that today provides the biggest ray of
hope for the HD community: the research supported by the CHDI Foundation,
Inc.
In preparation for an article on the CHDI drug pipeline, I have been
reviewing the audio interviews that I recorded with CHDI researchers in Los
Angeles on July 20 (
click here to read my initial feelings about the visit).
Transcribing the future
These are not
your ordinary interviews. A team of Ph.D.s in the sciences provided me with an
overview of their efforts to stop HD. They stand at the cutting edge of science,
and, if successful, their project would make history.
I need to get this
right. I must understand these interviews with exactitude – for myself and for
the many people in the HD community who do not yet know of CHDI’s efforts or
have only a vague notion of the researchers' progress.
Transcribing an
interview is painstaking; the process usually requires several hours of work per
hour of recording. This has taken longer, as the scientists’ many technical
terms and highly complex descriptions make the material almost like a foreign
language.
I am also transcribing my future, for better or for worse. The
disease processes described by the scientists are perhaps already devastating my
brain cells and putting me on the same path as my mother, who died of HD in 2006
after losing the ability to walk, eat, and talk. And the treatments they are
investigating could rescue me from the disease.
Like my difficult
feelings about people with Huntington’s disease, all of this information puts
more force into the emotional hurricane of my own life as gene-positive for HD.
Like a hurricane’s destructiveness, the outcome is
unpredictable.
Making vital connections
It’s
vital to spread the word about CHDI and also about the activities of
gene-positive people like me.
As Dr. Robert Pacifici, the chief
scientific officer of CHDI Management, Inc., explained, the organization is
building a database that will help build better connections between HD
researchers and the broader scientific community.
CHDI also seeks to
learn more about the behavioral patterns of patients and at-risk
individuals.
In Dr. Pacifici’s words, the sharing of information allows
researchers to leverage it for the benefit of finding a treatment or cure more
quickly. Someone, somewhere, could make that eureka connection.
It’s so
important for us in the HD community to make connections too – in this case,
with the researchers, with the donors who support our cause, with people
suffering other diseases, and, above all, with each other. In doing so, we can
all help make that final big connection that will end this disease.
If I
can find him, I want to talk to the 22-year-old man with HD again. He’s
certainly been tossed about in his own emotional hurricane. He and so many
others need a strong hand to help them make their own connections.
Tags: Huntington's disease, hurricane, symptoms, HD, HDSA, HDSA-San Diego, psychiatric, CHDI, Ph.D., gene-positive, Pacifici