Thursday, February 28, 2013

The return of the Huntington’s whirlwind

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.

Saturday, February 16, 2013

Pope Benedict XVI’s resignation: a witness to aging, a signal for a new bioethics

Undoubtedly, history will most remember Pope Benedict XVI not for any accomplishment or lack thereof, but for his courageous and humble decision to become the first head of the Roman Catholic Church to abdicate in seven centuries – and only the fifth in 2,000 years of Catholicism.

One cannot fail to be moved by the 85-year-old leader’s recognition that he no longer possesses sufficient “strength of mind and body,” leaving him unable “to adequately fulfill the ministry entrusted to me.”

He made the announcement on February 11. He will leave his post on February 28. Shortly thereafter, a conclave of cardinals, the top leaders of the Church, will meet to select a new pope from among themselves.

Benedict XVI’s resignation is a witness to aging and human mortality.

No matter what our beliefs about religion, this simple but profound action gives us pause to reflect on how we can accept our own human limitations.

For the Huntington’s disease community, it also provides an opportunity to recall the ethical, social, and spiritual dimensions of our collective struggle.

Turning over the keys

In a world with many governments and institutions ruled by old men unwilling to release their grip on power, Benedict XVI has voluntarily relinquished control of the Church – the epitome of male dominance – to go live in a building that has until now served as a cloistered convent.

Pope Benedict XVI 

In a global, image-conscious youth culture offering plastic surgery and hair implants to the middle-aged and elderly, Benedict XVI has said that it’s okay to age.

Many elderly people resist giving up freedoms such as the pleasurable and powerful experience of driving a car until an adult child worried about safety takes away the keys or gets a court order to declare the parent incompetent.

Benedict has turned in the keys on his own, saving others from potentially embarrassing and even dangerous predicaments and opening the door to potentially more youthful leadership in greater tune with today’s world.

According to the New Testament of The Bible, Jesus gave the Apostle Peter the keys to the Kingdom of Heaven. The historical successor to Peter, Benedict XVI will pass on those spiritual keys to a new pope, another illustration of the profound humility of his abdication.

Each day, HD-affected people and their caregivers strive together to strike a balance between the individual patient’s desires and the need for proper care. We, too, face the terrible burden of wondering about the right moment for the caregiver to take over the keys.

Gene-positive, asymptomatic people like me and those with early symptoms wonder how long we can hold onto our keys, and we worry greatly about burdening our families.

Ultimately, those keys represent our lives and our hopes for a peaceful death and the possibility of a hereafter – a place without the suffering of Huntington's disease.

Revealing frailty

Rather than leave the world the spectacle of a pope struggling to hold onto the reins of power while ensconced in the palatial papal dwellings, Benedict XVI may instead ultimately provide the world the image of a retired pope hospitalized or sheltered in what could effectively become a nursing home, with caregivers assisting him with basic needs.

If Benedict XVI develops or already has Alzheimer’s or some other neurodegenerative disorder, rather than be hidden behind a Vatican bureaucracy nervous about a transition of power and the Church’s image, his condition will become known to the world.

His predecessor, Pope John Paul II, suffered from Parkinson’s disease. Despite his symptoms, John Paul II kept up his busy schedule of trips and public appearances. He also advocated for greater research towards a cure.

The HD community has long understood the similarities between the frailties caused by Huntington’s and those of Alzheimer’s, Parkinson’s, and other disorders. We can stand with Benedict XVI as he faces the possibility of his own neurodegenerative symptoms, and we will continue to advocate for remedies for HD, still untreatable but the focus of intense research efforts.

Revising bioethics

The social impact of Huntington’s disease and the efforts to understand and treat it have thrust our community into the forefront of the biotechnological revolution.

As I recently wrote, “The story of Huntington's is the story of our time. Huntington's was one of the very first diseases for which a genetic test was developed. As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar's phrase, disease-gene carriers like me are ‘moral pioneers’ on the genetic frontier.”

Benedict XVI’s witness to aging and mortality comes at a time when the Church hierarchy, Catholic believers, and society in general have struggled mightily with other life-and-death issues such as birth control, abortion, embryonic stem cell research, and mercy killing.

Benedict XVI shored up traditional Church teachings on these matters, but he also belonged to a generation of Church thinkers faced with the challenge of formulating a system of Catholic bioethics to meet both the ever-expanding promise and dangers of the biotechnological era.

Thus, Benedict’s witness to aging could help the Church forge ahead with a carefully conceived and balanced bioethics.

By suddenly opening up the Church to the selection of a new pope, Benedict XVI has created potential space for new ideas regarding bioethics.

If a pope can humbly resign, perhaps the Church can humbly admit the need for greater flexibility.

Responding to challenges

Pope John XXIII (1881-1963, pontiff 1958-1963), a simple man of peasant origins not expected to make waves, surprised the world in 1959 by calling the Second Vatican Council, which took place from 1962-1965. This June 3 marks the 50th anniversary of John XXIII’s death.

Vatican II brought the Church into the modern world by carrying out the most sweeping reforms in the history of Catholicism. Those reforms included the end of the universal Latin Mass (in favor of the Liturgy in local languages), initiation of dialogue with other religions as well as with antagonistic political creeds such as Marxism, and greater participation by laypersons in the Mass and administration of the Church.

Vatican II responded to a great malaise in the Church in the 1950s caused by censorship of innovative ideas and an exaggerated dependence on tradition and ecclesiastical authoritarianism. Today a similar malaise – created by the current sex-abuse scandals and cover-ups involving priests, bishops, and even cardinals – plagues the Church.

In the late 1960s, powered by the energy of Vatican II, the Church seemed on the rebound.

Future reforms

As is well known, Benedict XVI worked hard to contain and even reverse the trends unleashed by Vatican II.

However, unlike the 1960s, when so much seemed possible for the Church, today the institution suffers from a crisis of credibility.

Liberal Catholics like me have again begun to urge that the Church call for a Vatican III to address such issues as the sex-abuse scandal and the ordination of women (for another example, click here). The Church also needs reform on issues such as obligatory priestly celibacy, the ordination of married men, and hypocrisy about homosexuality in an institution with large numbers of mainly closeted gay clergy.

A Vatican III was virtually impossible under Benedict XVI as active pope. However, his radical departure into retirement has now made a council possible. It may not matter if the new pope is another conservative, because Benedict XVI’s powerfully symbolic resignation, his witness to aging, has signaled to the leadership that it can and should explore new avenues, new modes of action.

Bioethics could and should become the centerpiece of a Vatican III.

As the Church clamored for peace and social justice in the 1960s, today it can take a new and invigorating leadership role in helping the world adapt to the challenges of the genome, the environment, new forms of human relationship, and the immense caregiving burden created by science and medicine’s ability to prolong the life of the body ahead of the mind.

In its long and often wise history the Church has evolved gradually and deliberately. It can now begin to embrace the postmodern world.

We in the HD have also born witness – to immense suffering, to an ambitious scientific effort to improve the lives of people through the search for treatments and cures, and to hope. We have much of our own wisdom to offer the Catholic Church, and the world, in the quest for a new bioethics.

(A similar version of this article appeared today in Portuguese in the Brazilian newspaper O Estado de S. Paulo.)

Monday, February 11, 2013

‘No Marine deserted on the battlefield’: two surviving spouses join forces to speed the defeat of Huntington’s disease

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,, 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 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.”