HD is a genetically caused brain disorder that causes uncontrollable bodily movements and robs people's ability to walk, talk, eat, and think. The final result is a slow, ugly death. Children of parents with HD have a 50-50 chance of inheriting the disease. There is no cure or treatment.
The everyday kindness of the back roads more than makes up for
the agony of the headlines – Charles Kuralt
As a member of a Huntington’s disease family, I have become
deeply familiar with the common yet often unheralded human practice of
caregiving.
My “HD warrior”
father Paul Serbin cared for my HD-stricken mother Carol for more than a
decade.
My mother died ten years ago this week. Her passing sent me into
a months-long dual spiral of anxiety and depression: I had inherited the HD
gene from her, and seeing her demise provided a portent of my own future (click here to read more).
Because of the inevitability of HD onset, I know that I too will
require caregiving.
Furthermore, as a father, I’ve spent the past fifteen years
helping my wife Regina raise our daughter Bianca, a special form of caregiving.
Bianca tested negative in the womb, thus avoiding the specter of juvenile
Huntington’s. As we teach her to drive and begin discussions about college, our role as parents
becomes both more rewarding yet more complex.
Three weeks ago, the balance shifted, as Bianca and I became
temporary caregivers for Regina: she underwent an operation to repair a torn
rotator cuff and must keep her right arm in a sling for at least six weeks.
Completely interdependent
Caregiving is about all of the little – but really big –
things we humans do for each other.
It’s how families, hospitals, and nursing homes run.
We are completely interdependent.
As we’ve helped Regina over the past several weeks, the meaning
of caregiving has become ever more clear to me.
It involves small but important tasks: bathing her, spraying on
deodorant, buttoning her shirt, adjusting her sling, driving her to doctor’s
and physical therapy appointments, taking over her share of car pool duties, providing assistance in the
kitchen, exercising her disabled arm – these and many more tasks have
highlighted for me the importance of caregiving, taught me to be more sensitive
to Regina’s needs, and reminded me of what’s most important in life.
Despite a busy high school life, Bianca has helped out, too.
It’s brought us closer together.
Bianca (left), Regina, and Kenneth Serbin (aka Gene Veritas) (photo by Bianca Serbin)
Valid and important emotions
I’m certainly no saint. I’ve done my share of grumbling! And
sometimes I feel overwhelmed.
As I’ve learned
from news items posted on Facebook HD discussion pages, caregiving experts say
it’s okay to experience feelings associated with caregiving such as anger,
boredom, frustration, and impatience.
“Whether you become a caregiver gradually or all of sudden due to
a crisis, or whether you are a caregiver willingly or by default, many emotions
surface when you take on the job of caregiving,” a recent article at Dementia Today states.
“Some of these feelings happen right away and some don’t surface until you have
been caregiving for awhile. Whatever your situation, it is important to
remember that you, too, are important. All of your emotions, good and bad,
about caregiving are not only allowed, but valid and important.”
As another article suggests, caregivers need to face emotions
directly, find healthy ways to release anger, share feelings with close
friends, and take breaks to pursue enjoyment.
These recommendations can apply to short-term caregiving
situations such as recovery from an operation but also to long-term situations
involving HD, Alzheimer’s disease, and other afflictions.
Overlooked and undervalued
Until my mother
went into a nursing home in the final months of her life, my father cared for
my mother’s daily needs with
the assistance of a professional caregiver who visited their home a few hours
each week. He helped her in the bathroom, fed her, and pushed her wheelchair.
She was the love of
his life. He was stubborn about accepting more help at home and getting her
physical therapy, but each day he climbed with her into the HD trenches.
Not once did I hear
him complain. Maybe he should have!
In our
celebritocracy, such dedication goes unrecognized. Each year family caregivers
are estimated to provide the equivalent of nearly half a trillion dollars in
unpaid care.
Unlike highly
valued, professional jobs, informal caregiving isn’t
considered a career.
“Parents and relatives and friends won’t be able to brag about your experiences.”Dr. White writes. “There are no ‘schools’ of informal caregiving–no
Harvard or Stanford to use as a guiding goal from which others can respect and
admire. Others may speak highly of your role and your efforts, but it begins
and ends there.”
While taking care of loved ones, members of the HD and other
neurological disease communities have long advocated for better caregiver assistance
and nursing home care – including disease-specific instruction for health aides. These will
remain daunting challenges for the foreseeable future.
Preemptive caregiving
I believe that Regina’s devotion to me and our family is a big
reason why I’ve passed my mother’s age of HD onset. She helps provide for the
family by working as a full-time elementary school teacher; she sees to it that
Bianca and I eat healthily; and she supports my HD advocacy.
She has done a lot of preemptive caregiving.
Caring for Regina during her recovery and remembering my mother’s
struggles with Huntington’s have led me to reflect on my future caregiving
needs.
As I race against the genetic clock and await the development of
treatments for this incurable disorder and a health care system more
responsive to those with brain diseases, I want to avoid becoming a burden on
my family.
By maintaining good health in the present, I can perhaps reduce
that future burden.
However, I know that, for each HD family, this is
uncharted territory. We can forge ahead by caring for our our family members – and for
the larger community.
Our “miracle daughter” Bianca, who tested negative in the
womb for Huntington’s disease in early 2000, recently turned 13.
As my wife Regina and I have watched Bianca transform before
our very eyes into a teenager, I have contemplated the beauty and fragility of
this miracle of life.
Bianca’s latest birthday was doubly special: she became a
teenager, and we again quietly gave thanks for her gene-negative status.
Had Bianca tested positive for HD, she might now be facing
the scourge of juvenile Huntington’s (JHD), a particularly cruel form of
the disease caused when a gene-positive parent, usually the father, passes on a more severe form of the genetic
mutation, causing onset to occur as early as the toddler years.
JHD strikes while a person is still developing physically and
neurologically. JHD can cause considerable pain, and some patients require
operations for problems such as deformed limbs.
Few JHD patients survive beyond the age of 30, and some die
during childhood.
Whenever I witness JHD families’ terrible struggles, I
breathe a sigh of relief that we as a family avoided such an immense burden on
top of my race against the genetic clock.
Nobody’s exempt from
life’s challenges
However, as a father striving to provide Bianca with a safe,
stable, and promising upbringing, I know that freedom from HD doesn’t mean
freedom from life’s other risks. Regina and I must still help her negotiate not
only the successes, but also the many challenges that lie ahead – and to know
when to step back and let her handle them on her own.
We’re also aware that each day illnesses of all sorts,
genetic and otherwise, strike many teens and young adults. The other day I
learned that a friend’s son faces an incurable, though partially treatable
genetic disorder. My heart sunk when I learned of the difficulties that await
this young person.
The HD community faces many tribulations, but so many others
suffer, too. Understanding this helps Regina and me to put our family’s
situation in perspective.
Genetics, families,
and ethics
Child-rearing provides the key to understanding a major
human purpose: propagating the human species and aiming toward a brighter
future.
Today the study of genetics and the search for treatments
for life-threatening genetic conditions such as HD constitute a new human
purpose but also new, ever-more-nuanced definitions of conception and the
family.
Regina and I faced the terrible possibility of bearing a
child with the HD gene. In 1999, preimplantation genetic diagnosis (PGD) wasn’t possible. Today it helps families eliminate HD forever from the family
line
In the Genomic Era, families can take advantage of new
scientific tools, but use of these tools also forces us to confront new ethical
and moral questions.
Best strategy:
honesty
Regina, Bianca, and I rarely discuss HD as a family matter,
but it does frequently come up in the context of my advocacy as a volunteer for
the Huntington’s Disease Society of America (HDSA) and writer of this
blog.
In 2012 and 2013 the three of us took part in the local annual
HDSA Hope Walk to raise funds and awareness.
Kenneth (left), Regina, and Bianca Serbin with Allan and Jane Rappoport, the Serbin Family "Beat HD" Team in the 2012 HDSA-San Diego Hope Walk (photo by E. J. Garner)
Bianca has also read several articles from this blog.
Responding first to Bianca’s curiosity about my mother
Carol’s illness and eventual death from HD in 2006, I have always answered her
questions about HD with explanations appropriate for her age at the moment. In
so doing, I have relied on my knowledge of the science of HD and other
families’ experiences with its social impact – but also on my gut.
Seeing how denial, stigma, and discrimination tear apart HD families – including parts of my own – I have always adopted a strategy
of openness and honesty in discussing Huntington’s with not only my daughter,
but other members of my extended family and my “HD family.”
New vistas
Parenting never ends. It requires constant attention,
patience, and spousal teamwork. Each stage in the child’s life is unique and
demands creativity and receptivity on the part of the parents.
During our vacation in Europe last month, Regina and I made
a special effort to open up new vistas to Bianca and become closer to her. She
is striving to become independent, but, even though she may not admit it, she
still needs and wants parental love and attention.
Now, as we prepare to return to the routine of school, I
feel great pride in Bianca’s good health and accomplishments.
However, I also worry about the many challenges of the teen
years, and I wonder increasingly about her rapidly approaching young adulthood.
She is just five years from entering college!
Strengthening bonds
I feel extremely fortunate to have so far avoided the
inevitable symptoms of HD. An HD-free life has allowed me to enjoy my
HD-negative daughter and protected her from having to confront living
with a symptomatic dad.
As I await potential treatment breakthroughs, I savor every
moment.
With each passing day, I become ever more conscious of the
fragility of life.
However, as long as I enjoy good health, I will work to the
utmost to strengthen my bonds to my family and to share the demands and joys of
parenting with my wife.
In my quest to avoid the symptoms of Huntington’s disease
and aid the search for treatments and a cure, I frequently struggle to cope
with powerful feelings.
As I’ve written before, I constantly aim to keep a balance
in my life between “striving” for the HD cause and “chilling” by enjoying the
simple pleasures of life.
However, both the fear of symptoms – I tested positive for
the HD gene in 1999 and at 53 have now passed my mother’s age of onset – and
the excitement about the real hope for treatments sometimes provoke a whirlwind
of emotions.
After a ten-week hiatus from this blog and most of my HD
advocacy last summer, I took my advocacy to new heights starting in the fall.
Since then, I’ve fought to keep a steady course as I’ve confronted both
depressing and exhilarating feelings.
Recently, however, the sensation of being caught in a
whirlwind has returned.
People keep dying
The people I meet through my advocacy regularly remind me of
the terrible suffering inflicted by HD.
To be an HD advocate requires compassion – but also the
ability to absorb great pain.
In preparing my recent article on HD and adoption, I
interviewed two of my “HD sisters,” women in their mid-40s with about the same
degree of genetic mutation as mine. I was startled to hear them describe how
the onset of cognitive impairment has severely restricted their lives. I could not help but wonder how my own life as a college professor,
HD advocate, husband, and father will be affected when my own inevitable
symptoms start.
For my article on two HD activists, I delved
into the wrenching story of Karli Mukka, a 13-year-old who died of juvenile HD. To see children who should be flourishing cruelly cut down by HD sends
a spike into my heart.
“Oh, not another one!” I exclaim to myself when I read on
Facebook about the death of yet another juvenile HD victim.
Seeing these fighters in our community go down makes me vow
to redouble my efforts.
Such sadness seems unending. People keep dying of this
horrible disease – with no treatments whatsoever to help them.
On February 13, along with the photo below, I posted the
following about my own sadness on HD Facebook memorial and prayer pages:
Today marks the 7th anniversary of my mother Carol
Serbin's death from HD. My father Paul, her "HD warrior caregiver,"
died three and a half years later. I miss them both terribly. I tested positive
for HD in 1999. Our daughter tested negative in the womb. I had hoped
treatments would come in time for my mother, but, sadly, they didn't. I
continue as an HD advocate fighting to avoid onset and for the discovery of
effective treatments.
A tribute and a
Valentine’s gift
Solidarity has soothed the emotional pain.
The loving comments on my parents’ photo from HD friends and
acquaintances brought great comfort. Wrote one woman:
Look at the smile on your Mom. I have noticed that no
matter how sick these people are, they manage to still smile. My daughter is
one of them. Such brave people. Sending Hugs your way Gene, all the way from
Canada.
I could not have imagined a more lovely tribute to my mom
and dad than the artistic reinterpretation of my parents’ photograph posted on
the HD prayer page by Rebecca Rose, who lost an adult daughter to HD in 2009
and a 9-year-old granddaughter in January 2012.
On February 14, Valentine’s Day, I received a wonderful gift
from sports talk show host Chick Ludwig, a friend of some 35 years, who
interviewed me during a segment about HD on his program on WONE radio in my
home state of Ohio.
The joy and excitement of reconnecting with Chick in such a
special way and sharing my story with a live radio audience left me
overwhelmed.
Looking to the World
Congress
Solidarity has also helped recharge my advocacy batteries
In response to the Portuguese version of my definitive coming-out article in the mainstream media, Paulo Vannuchi, a survivor
of brutal torture during the Brazilian military dictatorship (1964-1985) and the
country’s minister of human rights from 2005-2010, wrote me a long and moving
personal e-mail, pledging to support the cause in any way possible.
I was thrilled that a man with great political influence and
a record of defending the disabled could help the HD cause in Brazil, my wife’s
homeland and my “second home” after nearly three decades of studying its
history and people.
The world’s fifth most populous country with nearly 200
million people, Brazil has an estimated 13,000-19,000 HD patients and
65,000-95,000 at risk of carrying the gene, making it a key player in the
effort to globalize the search for treatments through the so-called Enroll-HD program.
Indeed, Rio de Janeiro, Brazil’s second largest city, will
host the 2013 World Congress on Huntington’s Disease from September 15-18. I
will speak in at the congress on the topic of coping with the knowledge of
living with the mutant gene.
Paulo and I have begun to brainstorm how to raise the
profile of the congress and awareness about the disease in Brazil, where the
community is even more closeted than in the U.S. and whose Huntington’s
association has only minimal resources. (I will explore the reality of HD in
Brazil in a future article.)
After 25 straight years of living in or visiting Brazil, I
declined to travel there in 2011 and 2012. I’ll spend a good part of this year
planning a very special return: to attend the congress, my first ever HD event
outside the U.S., alongside other HD people in the land I love as much as my
own. I'm very happy that I'm finally able to meld the professional and personal sides of my life with my advocacy.
However, planning for the trip could also cause anxiety. As
a Brazil specialist, I feel an immense responsibility to help make the
congress a success.
Managing feelings
As I once again negotiate the twists and turns of the HD
whirlwind, I’ve worked extra hard to take care of myself emotionally.
Like a lot of guys, I’m often in denial when it comes to
managing feelings.
I wrote in my blog notes:
You men out there: do
you take care of your feelings? Do you take care of yourself? Are you always
trying to be the hero? The problem-solver? Are you listening to what your
spouse says about HD, taking into consideration her feelings?
Luckily, throughout most of my journey with HD I have had
the support of a (female) psychotherapist, my “mind coach.” I also take medication for depression and anxiety.
Joining an HD support group just one month after learning of
my mother’s diagnosis of HD in late 1995 was one of the most important things
I’ve ever done.
Likewise, seeking psychological assistance has helped me
deal with the numerous ups and downs of living at risk for Huntington’s
disease.
Keeping calm in a whirlwind is not easy. However, with
friends, love, and support, we can keep forging ahead.
After the deadly, untreatable Huntington’s disease claimed
their spouses, Jonathan Monkemeyer and Jane Mervar – once strangers, now close
– decided to devote their lives to finding ways to speed the search for
effective remedies and making the case for the importance of juvenile HD (JHD) in
the process.
Without at first knowing the cause of his wife Sheryl’s
strange illness, Jonathan quit his job in the early 2000s to become her
full-time caregiver until she died from HD in 2009 at 46.
“It’s the thing you have to do,” Jonathan, an accomplished
electrical engineer, said in a recent phone interview from his home in suburban
Philadelphia. “You really don’t have a choice in our country. We did a lot of
nice things, which was good. We did peaceful things like traveling to local
gardens. She spent a lot of time with our son.”
Sheryl died at home. “I didn’t expect her to die,” Jonathan
said. “I thought we would get the cure in time. The doctor said she had five
years. But she fell and got hurt. She couldn’t sit. I had to hold her. Her
weight went from 109 pounds to 89 pounds within four weeks. She died of a heart
attack, which is like starving to death.”
Caring for Sheryl depleted the family’s life savings,
Jonathan added. “I’m heating with wood right now,” he said. “I’m not using
heating oil.”
The couple’s son Jonathan, now 14, has a 50-50 chance of
having inherited the HD gene from his mother. (Usually only adults can decide
whether to be tested for the gene, and most choose not to do so. Children can be tested if they already show symptoms.)
A parallel story
Halfway across the country in the village of L’Anse in the
Upper Peninsula of Michigan, Jane faced her own difficult odyssey to decipher
the disease afflicting her family. She lost not only her 49-year-old husband
Karl, but also her 13-year-old daughter Karli Mukka to HD, both in early 2010.
(Jane gave her daughters her maiden name.)
“Karl was a wonderful,
ambitious, intelligent man,” Jane said at the start of an exhausting and
emotional four-hour interview. “He had very strong family values. He could
always make me laugh.”
However, she
recounted, gradually “he started to change. Nobody could explain to me what was going
on.”
Karl Mervar and daughter Karli Mukka, both victims of HD (family photo)
Like many HD patients, Karl became angry and aggressive,
threatening his family with violence.
“Karl held us hostage with his guns,” Jane said, recalling
the dangers she, Karli, and her three other daughters faced as Karl’s behavior
became increasingly irrational. “There were a lot of scary, scary times. We had
a safe room in the house. We’d go in the room and push the bed up against the
door. The girls knew this routine. Then I would try to play with him or try to
distract him.
“The darn thing is, I knew we were everything left in the
world that meant anything to him.”
JHD ravaged Karli’s body,
displacing the organs in her chest cavity and forcing her spine to the far
side. Because of the disease’s uncontrollable movements, Karli had chewed off
half of her tongue by the time she died, Jane said.
A nurse suggested that Jane give Karli morphine and “let her
go.” She declined the advice.
“It was a hard spot to be in,” Jane said. “I talked to Karli
and asked her if she was ready to go on baby Jesus’s lap. She said no. She died of natural causes.”
Today Jane just gets by financially, thanks to Social
Security benefits, as she cares full-time for her two other daughters with
Karl, 22-year-old Erica Mukka and 20-year-old Jacey Mukka. Like Karli, both have
JHD. Karisa Mukka, a 26-year-old daughter from a previous relationship, lives
nearby.
Partners in love and
advocacy
In June 2010, still in mourning for their lost loved ones,
Facebook friends Jonathan and Jane struck up a lively conversation while
sitting next to each other at the 25th convention of the
Huntington’s Disease Society of America (HDSA) in Raleigh, NC. After the
convention, they spoke daily for at least a couple of hours. Jonathan visited
L’Anse, and shortly thereafter Jane and Jacey stayed nine days with the
Monkemeyers.
Their friendship led Jonathan and Jane into a romantic,
long-distance relationship.
“They’re an incredible family,” Jonathan said of Jane and
her daughters. “Their value system is not about themselves.”
“I was in a pretty low place,” Jane recalled. “I had lots of
grief after Karli and Karl died. I wanted a reprieve from caregiving – just
wanted to be dead. I’d be laughing after I finished talking to Jonathan. I
think he saved me.”
Their relationship and support for each other’s families
also became a partnership in advocacy for HD patients.
Bridging the gaps
To achieve their goals, Jonathan and Jane are politely but
firmly challenging bureaucratic inertia.
Supporting himself and his son with his son’s Social
Security survivor benefits, Jonathan dedicates himself full-time to HD
advocacy. He has developed a deep understanding of HD science. By his account,
he has so far skimmed through more than 10,000 scientific articles related to
the disease.
Applying an engineering approach to the problem of
developing treatments, Jonathan developed a website, HDCircle.org, currently
offline, on which he has posted information about HD researchers from around
the world, links to HD organizations, and reviews of potential HD treatments.
He plans to reactivate the site soon.
He also created a Facebook discussion page, Hereditary
Disease Circle, with the goal of finding connections between HD and other
neurological conditions such as Parkinson’s disease, multiple sclerosis,
posttraumatic stress disorder, and amyotrophic lateral sclerosis, also known as
Lou Gehrig’s disease.
In addition, he attends relevant meetings and conferences in
order to network with people from other disease communities. He seeks to bring
their best results and ideas to bear on HD research.
As Jonathan explained, he aims to create “synergies” and
“bridge the gaps” among HD researchers and the various key organizations such
as HDSA, the Hereditary Disease Foundation (HDF), the CHDI FoundationInc., the multi-million-dollar, non-profit virtual biotech formed solely
to seek HD treatments, and the National Institutes of Health (NIH).
As one example, Jonathan said he has spoken personally with
NIH Director Dr. Francis Collins, one of the pioneers in the search for the HD
gene in the 1980s and 1990s, more than a dozen times, including last week in
Washington, D.C.
NIH Director Francis Collins (left) and Jonathan Monkemeyer (personal photo)
“Essentially, engineers design things hierarchically,”
Jonathan explained. “I created a website, which is a blueprint for how the
system works.
“We’re the only disease without a gene therapy. There have
been 1,000 gene therapy clinical trials. But we as a community don’t seem to be
organized enough. There’s something in our organizational structure. By their
very nature of having a job description, when you’re within an organization,
your function is to be in the organization. Everybody gets stuck in a silo of
what they’re doing. With so many scientists and stakeholders in the field of HD
research, moving forward gets stymied by committee and the sense of urgency
gets tuned out.”
If he held a position within one of the organizations, “I’d
have a boss to report to,” Jonathan continued. “As an outsider, without a job,
and asking questions as an advocate, it gives you the position to help steer
people in the right direction towards what needs to be done. I have the
greatest freedom, not being employed in an organization. I can talk to anybody
I want to.”
Sometimes Jonathan feels as if he’s “walking on egg shells,
because I’m not a researcher,” he said. “You tell people very nicely and very
artfully. We don’t tear down institutions. We build them up.”
He summed up his approach as “doing what needs to be done to
drive innovation that will bring a therapeutic to our community.”
What might work
Significantly, Jonathan’s efforts include canvassing the
research community for the latest discoveries and techniques that could
translate into therapies for HD. He seeks to brainstorm about new developments,
as well as previous ones, in his conversations with scientists.
Rather than simply await for the multi-million-dollar
pharmaceutical efforts to bring results, advocates must actively participate in
the search for treatments, perhaps even trying drugs and substances approved
for other purposes in their own off-label studies, seeking advice from
researchers on dosing, and having people reporting their observations via a
website, Jonathan suggested.
He cited the example of Hannah’s Hope Fund (HHF),
whose advocates teamed with researchers in a low-cost effort to develop gene
therapy for a rare genetic condition known as giant axonal neuropathy. HHF has
met with the federal Food and Drug Administration (FDA) and, if a safety study
goes as planned, could start a clinical trial this year.
In the drug-discovery system in America, the profit motive “stymies
innovation and responsibility” towards the patients, Jonathan observed. Rather
than producing strong leaders like a Jonas Salk, who developed the vaccine for
polio, the system today fosters a climate of “let’s make everybody happy.”
Jonathan also pointed to the new partnership between the NIH
and the Milken Institute/Faster Cures, which seeks to increase collaboration
among the government, foundations, universities, and the pharmaceutical
industry in order to cure more diseases and do it faster. This initiative
includes the creation of a new NIH program, the National Center for AdvancingTranslational Sciences.
Advocates for rare diseases like HD need “to get involved in
every single aspect” of the search for treatments.
“AIDS advocates made the FDA bend,” he noted. “We the
patients have a moral incentive. Our voice counts and makes the difference.”
An epiphany about JHD
Like other JHD advocates, Jane and Jonathan have strived to
increase the attention to JHD by researchers, HD organizations, and the
government.
In September 2010, Jonathan and Jane met with Dr. Steve
Groft, the director of the Office of Rare Diseases Research at the NIH, to press the case for greater support for HD research.
For Jonathan and Jane, the meeting was a kind of epiphany.
Pointing to the different emphases and the existence of different organizations
in the field of diabetes and juvenile diabetes, Groft helped them see the key
role that JHD research could play in the overall HD effort.
Dr. Steve Groft and Jane Mervar. In the middle is Max the Turtle, Karli’s stuffed animal companion that is now a
mascot of the JHDKids initiative (family photo).
“The meeting was phenomenal,”
Jane said. Jonathan said she came away with a greater sense of “we need to do
something.”
“Everybody was so resistant to
acknowledge the juvenile population,” Jane said. “It’s just like some big
political game. Nobody was playing that game for our children, so we were
screaming: we need a cure, we need a
cure, we need a cure!”
“You need a piece of legislation
to get JHD funded, and then the NIH would fund it,” Jonathan explained,
pointing to one of the roadblocks facing the efforts to understand and treat
JHD.
Both Jonathan and Jane observed
that JHD research lags far behind other HD research, and, because of ethical
concerns and the need to avoid mixing juvenile and adult research data,
children aren’t included in clinical trials.
Jane tried but failed to sign up
Karli for a trial for ACR-16,
seen as a potentially promising HD remedy. Jane described the formal response
she received as “too bad for you, you have Juvenile HD.” “I was devastated,”
she said.
Karli also took the supplement
creatine, currently under study for HD and taken by many in the community. “It
took us almost a year to get two doctors to follow Karli when she was on
creatine and to get a guideline on dosage,” Jane recalled. “There are a lot of
families that are just slipping through the cracks.”
Researchers have also lacked a
so-called “natural history study” of JHD – a study to follow a group of
patients over an extended period to better understand the condition and support
the development of treatments.
Jane and Jonathan’s advocacy has
included pressing the HD organizations to pay greater attention to JHD, they
said. Thanks to pressure from JHD families, last year HDSA agreed to the
creation of a new fundraising effort specifically for JHD, Jane explained.
“Great things can be created
from hard situations,” Jane observed.
Jonathan and Jane at the White House after their meeting at the NIH
Office of Rare Diseases and Research (family photo)
Raising the profile of JHD
Jane, her daughters, and other JHD families swung into
action, joining other grassroots JHD initiatives in the effort to raise
awareness and funds for research.
Jacey and Erica started JHDKids.com. With a computer
and video equipment provided by the Make-a-Wish Foundation, Jacey has made a
series of short films, including one about Karl and Karli titled The Real Huntington’s Disease, which has
had more than 220,000 views on YouTube. (Watch the video below.)
The JHDKids initiative is seeking funds specifically to
support the JHD research of Dr. Jane Paulsen, the co-director of the HDSA
Center of Excellence at the University of Iowa, and project partner Dr. Martha
Nance, the director of the HDSA Center of Excellence in Minneapolis.
Both researchers work on a volunteer basis, with all funds
raised going solely to research.
In the words of the JHDKids site, JHD differs significantly
from adult onset HD in several ways. “The most significant difference is that
in JHD the disease occurs before the brain is fully developed,” says a
statement on the site from the researchers. “This accounts for the wide
variation at one age from JHD to another age. Maturation and neurodegeneration
occur at the same time in JHD.”
Drs. Paulsen and Nance began following JHD patients at the
annual HDSA conventions in order to carry out the natural history study.
“Now, with the awareness and
fundraising getting more widespread, they’re able to bring our families into
Iowa,” Jane explained. “We’re planning on going this spring. That will be the
first time we’re going to Iowa.”
One big family
Jonathan and Jane have talked of
bringing their families together in one place.
For now, however, they will
continue their hours-long daily conversations from their respective abodes.
Jonathan’s location on the East Coast facilitates his access to the corridors
of scientific and medical power, while Jane wants to respect Jacey’s wish to
die in the same place as her sister and father.
The distance does not diminish
their commitment to each other’s families, nor to the larger cause.
Jonathan helps Jane manage her
caregiving crises. “He’s always learning something new,” she said. “He’s
a very faithful, spiritual person. He’s just a very good man.”
Erica and Jacey’s doctors wouldn’t predict how long they
might live, although JHD patients typically die in their 20s or 30s, if not
sooner, like Karli.
Jane knows that an effective, life-saving treatment might
not come in time to save them. She concentrates on providing them with the
healthiest, happiest life possible. Having worked as a nurse’s aide in a
nursing home and seen Karl go through his final decline in such a home, she
hopes to keep her girls at home as long as possible.
“Jacey has a big phobia that if she can’t see me, she’ll
die,” Jane said. “We can’t calm that down. She likes to watch movies. She likes
to work on the website. She likes to see all the kids with JHD. She likes to
come up with new ideas for designing the website.”
At 19, Erica had married her high school sweetheart, but the
marriage lasted only 11 months. She is currently dating another man. “She wants
him to learn how to do her makeup and coordinate her clothing,” said Jane, who
has legal guardianship over both daughters.
She obtained a court order to obtain permission for a tubal
ligation for Erica.
“I cried with her,” Jane said. “It was just a real painful
process to go through. She said, ‘If I had a baby and got sicker, and what if
my baby’s like Karli?’”
“Fear for my son is certainly a reason,” said Jonathan of his commitment to the HD cause, noting that, so far, his son has showed no
HD symptoms. “That’s a personal, selfish motivation. Why is my son’s life more
important than someone else’s life? I know Jacey and Erica and everybody else
that’s dying from this.”
He added, “I’m doing this full time, and as far as I’m
concerned, there’s nothing more important I can do with my life. It’s knowing
everybody in the community and knowing the suffering and the damage it causes
to families. You don’t leave a marine in the battlefield. It’s just wrong to
walk away. I can’t stop doing it. This is my life experience.”
His experiences as Sheryl’s caregiver have deepened his
feelings about others facing the same plight.
“When I see HD in somebody else, the empathy is much more
intense and overwhelming,” he confided. “To me, we’re all a big family. That’s
why I can’t walk away.”
