Because of its devastating medical and
social impact, Huntington’s disease often forces affected individuals and their families to
abandon their dreams.
After learning of my mother’s diagnosis for HD in 1995 and then
testing positive for the deadly gene in 1999, I became aware of how the disease
could damage family finances.
HD families not only lose the income of
the affected individual; they also bear the costs of caring for that person,
including nursing home fees. Sometimes the caregiver quits his or her own job
in order to stay at home with the patient. Sometimes an exhausted caregiver
even dies before the HD person.
Fearing such consequences, my wife Regina
and I abandoned the idea of buying a retirement home in her native country of
Brazil, in order to save more money to pay for my future care.
Our daughter tested negative for HD in
the womb and is today a healthy 16-year-old. Unwilling to repeat the long and
psychologically traumatic process of prenatal genetic testing, we decided to
have no more children. That decision was especially painful for Regina.
Delving into the cause for a cure to save
my deteriorating mother, I was compelled to add a new, fundamentally different dimension to my academic career: in addition to Brazilian history, I now also
study the history of science, technology, and medicine. In this blog I have tracked the development of HD research, chronicled
the HD cause as a social movement, and documented the new and harrowing human
experience of living in the gray zone between a genetic test result and disease
onset.
This new dimension has brought many
rewards, but I often fantasize about what my career would be like if it weren’t
for HD.
A
diversion and a trigger
Brazil, my research passion, became
simultaneously a diversion from and a potential trigger of HD onset. I eagerly
looked forward to the escape to the wondrous culture of Brazil during my summer
research trips.
However, with both HD and my intellectual
legacy on my mind, each spring I prepared feverishly for those trips, packing
into my schedule as many research tasks as possible –
including meetings with Brazilian Huntington’s advocates. On the
plane south, I worried about whether I was doing the best thing for my health.
Relaxation and exercise in San Diego seemed more beneficial than living in
hotels and eating restaurant food while exposing myself to the pollution and
winter weather in the São Paulo megalopolis, where I did a lot of my work.
Facing HD, I couldn’t help but wonder if each trip might be
my last.
Going
international
As I became more deeply involved in HD
advocacy and this blog over the past ten years, I lost some passion for Brazil
research.
My mother’s death in 2006 figured heavily in that equation. As I watched her
succumb to HD, I knew I would be the next to be stricken by the inevitable
symptoms.
Research on Brazil sometimes seemed
irrelevant. However, I kept at it, continuing a string of annual research
visits stretching from 1986 to 2010, and again in 2013, 2015, and 2016. Today I
consider myself bi-cultural, and my network of contacts in Brazil has made my HD advocacy international.
A
new perspective
Lately, I’ve entered yet another stage of my journey with HD.
This year marked the tenth anniversary of
my mother’s death. With time,
memories of her struggle have become less frightening.
At the same time, something more
important has occurred: at 56, the age at which my mother had involuntary
movements and was losing her cognitive abilities, I have yet to develop any of
the classic, visible signs of HD.
Scientists are getting closer to
explaining the reasons for different age of onset in people like my mother and
me who have the same degree of genetic defect (click here to read more).
Unlike my mother, I’ve had the advantage of knowing that I carry the gene. So I have cared
for my health more conscientiously.
After testing positive at age 39, I was
convinced that I would by now have symptoms that would prevent me from working
and traveling to Brazil.
I have been extremely lucky. As a result,
my perspective has changed. I feel more optimistic about life because of the
wonderful blessing of health that I currently enjoy.
Also, while in 1995 there was a dearth of
potential HD remedies, today researchers run clinical trials in the quest for
remedies to alleviate HD and perhaps even make it a manageable disease, thus
allowing people to lead normal lives.
Having gotten this far, and looking back
on two decades of advocacy, I am also somewhat more at peace with the fact that
HD will inevitably strike me.
I know I am fighting the good fight.
Ultimately, I cannot control my fate.
Taking
a break from the cause
I took a break this summer from the HD
cause. I devoted much of it to working on a long-gestating book project on
former revolutionaries in power in Brazil, including Dilma Rousseff, the
president of Brazil impeached in March and removed from office on August 31 by
a vote of the Brazilian Senate. To grasp this important moment in Brazilian
history, I have immersed myself in the events, including watching live video.
I had started the research on this
project shortly after learning of my mother’s diagnosis. I had never imagined that at 56 I would still be able to
write.
Focusing fully on Brazil again this summer, I felt in
my element.
I did feel guilty this summer about
not responding immediately to some requests for help from members of HD
families.
However, I also recalled how many HD
people give up on their dreams. I thought specifically of one asymptomatic gene
carrier who decided to put advocacy aside and dedicate himself fully to a
promising career.
“I have a right to
self-fulfillment, too,” I
told my psychotherapist. “I have given up so much because of HD. I really want to finish my book
on Brazil.”
All
HD-affected individuals and their families have the right to their own dreams!
That’s what we in the HD community are fighting to restore.
A
stark reminder of HD
The gravity of our struggle hit home
again on September 13, when Laura Rivard, Ph.D., invited me to attend a
screening of the HBO documentary The Lion’s Mouth Opens in her
course Ethical Issues in Genetics at the University of San Diego. (In a
future article, I will explore HD and bioethics in the context of Dr. Rivard’s course.)
The film portrays filmmaker-actress
Marianna Palka’s decision to test for HD. Before class, Dr. Rivard’s students also watched a video of me,
produced by one of her former students, in which I discuss my own experiences
with genetic testing (click here to watch the video).
The scenes with HD people moving
uncontrollably starkly reminded me of my mother – and
once again of my own terrible burden as a gene carrier.
Our
biggest dream: an effective treatment
After we watched Marianna learn from a
geneticist that she carries the HD gene, I answered students’ questions.
One asked: “Do days ever go by when you totally forget about your diagnosis, or is
it always in the back of your mind?”
“It’s almost always in the back of my mind,” I responded.
However, I added: “I haven’t blogged since May. This is one of the longest periods I’ve gone without blogging.”
I explained that my Brazil book had
priority over the summer.
“I’ve been able to put Huntington’s disease aside for the first time in
many years,” I said. “It’s really nice to wake up some days and think about Brazil instead of
Huntington’s disease.”
After leaving Dr. Rivard’s class, I remembered that the battle for
treatments continues. It’s a battle that we need to win.
Like others affected by HD, I don’t want to become a financial and
caregiving burden for my family. And like others, I want to experience the joys
of family milestones, such as seeing my daughter graduate from college and
start adult life without the worry of an incapacitated father.
