Anonymous donors, confidentiality, and how we all must work to defeat Huntington’s disease

Now that Bloomberg Businessweek has outed the anonymous philanthropists who for nearly two decades have funneled more than $700 million into Huntington’s disease research, a financial mystery has been solved.

However, as the HD community benefits from the generosity and foresight of private funding, a hugely more significant question persists for HD families, researchers, physicians, and advocates: what steps must the community take next to discover treatments, and how can we complement the scientific work funded by philanthropy?

According to the May 8 online article, “The $13 Billion Mystery Angels,” the three philanthropists run two charitable trusts valued at $9.7 billion, larger than any other U.S. philanthropic entity except for the Gates, Ford, and Getty foundations.

The trusts have given $13 billion to numerous causes – including the HD-focused Hereditary Disease Foundation (HDF) at first and then the CHDI Foundation, Inc., a non-profit, virtual biotech founded in 2003 to discover HD treatments. According to the article, by 2011 the philanthropists’ annual HD donations had surpassed $100 million – an enormous but much-needed sum, more than the National Institutes of Health (NIH) was putting into the search for treatments. The Huntington’s Disease Society of America (HDSA), Huntington’s Disease Drug Works (HDDW), and the Huntington Society of Canada also received donations, according to a graphic accompanying the article.

As someone who has tracked CHDI since 2007 and reported on its meetings, including my role as keynote speaker at the Sixth Annual HD Therapeutics Conference in 2011, I’ve long noted in this blog that wealthy people were backing CHDI, with annual expenditures in the tens of millions of dollars.

In one sense, the article clearly raises the profile of HD by linking it to one of the U.S.’s most extensive charitable efforts. However, because the article focused so much on how the donors got their wealth and the steps they took to keep the donations anonymous, it failed to make an important point: fighting HD is a monumental task that can do enormous good for humanity, not merely by lessening the suffering of those afflicted by HD and their families, but also by attacking brain diseases in general.

Although the amount of money is remarkable, I’m even more impressed with the intense focus of the HDF and CHDI, along with numerous researchers around the world, on solving one of the knottiest scientific challenges of our era: treating a genetic brain disorder that produces a triad of symptoms (involuntary movements, cognitive loss, and mood and behavioral issues) and results in a slow and ugly death. The researchers include many hard-working graduate students and postdoctoral fellows doing critical groundwork on the disease.

Scientists listen to a presentation at the Ninth Annual HD Therapeutics Conference, organized by CHDI, Palm Springs, CA, February 2014 (photo by Gene Veritas).

However, more than two decades after the monumental discovery of the HD gene, researchers still haven’t found a way to save tens of thousands of HD patients and gene carriers like me from the ravages of the disorder. I was both frustrated and devastated as I watched HD reduce my mother to a mere shadow of herself. She died in 2006 at the age of 68. “I’m next,” I thought.

Judging from the comments posted on the Businessweek site, the exposé of the donors both fascinated and angered readers. We should not let the emotional response sidetrack us. We can use the article as an opportunity to reflect on our predicament and redouble our efforts.

Many individuals in our community may not be wealthy, but we all have something to give. It’s crucial to participate in – and encourage others to join – research studies and clinical trials to advance the fight against this enormously complex disease.

Gratitude and hope

First and foremost, the article leads me to be thankful for the donors’ enormous generosity.

Though the article questioned the web of anonymity behind the foundations, there’s another way to look at it. Through their anonymous giving, the three philanthropists have followed one of the most profound teachings of the Judeo-Christian tradition.

“But when you give to the needy, do not let your left hand know what your right hand is doing,” Jesus exhorted his listeners in the New Testament of the Christian Bible.

Maimonides, the 12^th century Jewish philosopher and scholar, described charitable giving in terms of an eight-rung ladder that ranked anonymous giving at the top.

CHDI, along with its collaborators and other HD organizations, brings me the hope of avoiding my mother’s medical fate. The CHDI-sponsored therapeutics conferences always leave me electrified with the possibility of treatments.

“In a nutshell, CHDI is like a miniature Manhattan Project to stop HD,” I wrote shortly after my first visit to one of the organization’s offices in 2009. “The researchers’ excitement and confidence are palpable.”

I yearn for the day when I can personally thank the donors for helping to save me from HD.

Breaching anonymity

In this article, I have purposely not mentioned the donors’ names, because I want to respect their desire for anonymity.

The Businessweek article breached that anonymity. Journalists tweeted the story, and websites linked to it. Given the nearly 1 million print subscribers to the magazine in more than 150 countries, and even more readership online (24 million unique hits per month for Bloomberg.com and businessweek.com), the article surely will persist.

In an instant, the decades-long anonymity of the donors’ charity vanished.

Although our celebrity-conscious society tends to treat wealthy people as devils or demi-gods, I pondered how the philanthropists are people no different from anybody else, and how the article could impinge on the donors’ professional and personal lives.

Upholding confidence, providing perspective

While wanting to give anonymously is not the same as aiming to keep one’s health status private, the situation does have echoes with my experiences regarding HD and confidentiality.

The need to protect confidentiality hit home immediately after I learned of HD for the first time with the news of my mother’s diagnosis in late 1995. People had the right to keep genetic status private – as with most medical information – to prevent against discrimination in the workplace or the purchase of insurance.

At my very first HD support group meeting in January 1996, the facilitator stressed that everything shared by the participants had to be kept strictly confidential. Later, when I joined the board of HDSA-San Diego, I heard a similar exhortation about confidentiality from the chapter president at the start of every monthly meeting.

As I have chronicled in this blog, my deep need for confidentiality led me to hide in the “terrible and lonely HD closet.” Only in 2012 did I definitively go public by publishing an article, authored with my real name, in The Chronicle of Higher Education, but only as the culmination of a long, deliberate, and psychologically painful process.

Most people in the HD community shun such exposure because of the stigma and discrimination long associated with the disorder. As I can attest, anonymity can also serve as a powerful form of denial.

At the same time, I feel obligated to try to look at HD thoroughly. I’ve pledged to my readers a “realistic and unapologetic” view of Huntington’s disease that includes critical analysis of media coverage.

That stance has raised awareness about the disease, provided crucial historical perspective on HD advocacy, and suggested ways in which people can cope with their own struggles with stigma and silence.

Informative communication

Looking ahead, the HD community must prepare itself to respond to both positive and negative news.

Along with families’ stories of sorrow and courage, the burgeoning scientific knowledge about HD and the approach of long-awaited clinical trials will assure that HD continues to make headlines.

Indeed, many in the HD community are now telling their stories in public. We must leverage the capacity of our media-savvy advocates, who include authors, journalists, filmmakers, bloggers, participants on social media, speakers at public hearings, and people featured in newspaper stories and on radio and TV programs.

In organizations such as the Huntington’s Disease Youth Organization (HDYO), young people in particular are working to de-stigmatize HD by confronting the health and social implications of the disease early in life.

We might also consider an idea I’ve floated in conversations with several HD organizations:  the creation of an advocate-run HD news agency to produce and share detailed coverage of vital matters left uncovered by other HD information outlets.

Informative communication educates people about HD and can inspire uninvolved HD families to become advocates.

Action in the public arena

The HD community must remain attentive to other impacts from the outing of the donors, including the potential effect on the drive for treatments.

In a comment on the article, HD activist BJ Viau feared that the donors might stop giving to the HD cause. Although there’s no indication the funding stream will diminish, we can’t predict the future.

The $9.7 billion in the donors’ trusts provides a very large funding base for supporting HD research and the other areas they support. Indeed, it is larger than most people in the HD movement could have imagined.

What’s worrisome is not only that NIH funding for HD is less than the private funding, but also that NIH funding has been cut. Many scientists, including university researchers, rely on the NIH. With diminished funding, the pace of HD research, especially basic knowledge about this exceedingly complex disease, could slow. (Click here to read more on the outlook for public funding of science.)

As Robert Pacifici, Ph.D., CHDI’s chief scientific officer, told me in my very first interview with him in 2009, the cure for HD could very well come from “left field.” That means a young graduate student funded by the NIH might be the one with the eureka moment.

Robert Pacifici, Ph.D., CHDI's chief scientific officer, addresses the audience at the 2014 HD Therapeutics Conference (photo by Gene Veritas).

According to the Businessweek article, the philanthropists lobbied Congress to “provide more generous tax treatment for donors who target rare diseases.” Such a plan would help HD and myriads of other orphan diseases that generally are ignored by the large pharmaceutical companies. As one of its key achievements, CHDI has involved several of these companies in the search for treatments.

The HD community will need to continue pressuring the federal government for public support of HD research and health and science research in general.

Avoiding complacency

Also, I believe the HD community must guard against a sense of complacency after learning of the philanthropists’ immense resources.

Given such philanthropy, it’s very easy to think that someone else has control of the situation and can develop treatments without increased participation of HD-affected individuals and their families in support groups, HDSA events, advocacy initiatives, research studies such as the CHDI-sponsored Enroll-HD, and clinical trials. As a registry of affected and at-risk individuals, Enroll-HD will play a key role in meeting the enormous challenge of signing up people for such trials. (Soon I will post a detailed update on Enroll-HD.)

We all can participate in some way.

“Now that the news is out there and the community has to think about the potential impact, I would hope that there is a greater awareness of the need for respect, collaboration, and community,” HDSA CEO Louise Vetter told me, after I requested a comment. “Because whether it’s a penny or $13 billion, the contributions are all important as we save lives.”

We must all redouble our efforts. Scientists, drug hunters, physicians, and other researchers are working intensely to determine the next steps on the path to treatments.

Without HD families’ participation, they cannot advance.

‘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 25^th 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.”