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 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.”
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.”
