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.

Support from unaffected relatives makes big difference in fight against Huntington’s disease

May is Huntington’s Disease Awareness Month.

Building awareness in the fight to defeat HD means expanding knowledge of this deadly brain disorder beyond directly affected individuals and their families. Ultimately, an effective campaign must actively involve the unaffected, both relatives and friends.

George Essig epitomizes the dedication of the unaffected relative.

For families like mine – my mother died of HD in 2006, and I carry the genetic mutation – individuals like George bring hope alive.

“I remember as a child my uncle walking in a very clumsy manner and at one family event even spilling his entire plate of food on the living room floor,” George says in the May 15 edition of “Faces of HD,” a daily autobiographical advocacy mini-profile disseminated via e-mail and social media by the Huntington’s Disease Society of America (HDSA) during May. “People kind of looked away. My aunt cleaned things up amidst the awkwardness. My uncle got progressively worse and could not enunciate his words.

"I remember that the family thought his son, my cousin, as a young boy was mirroring his father's actions. We found out of course that he had child onset Huntington's disease. He died at age 19."

George Essig

Nobody in George’s extended Midwestern family wanted to talk about HD, he remembers.

“My parents would not talk about it,” he continues. “I learned my grandfather had it. My uncle tried to commit suicide in the basement of his home using gasoline from the lawnmower. My cousins' boyfriends at the time had to clean it up.”

In 1975, George moved to San Diego.

“Huntington’s was lost in my memory,” he says. “I am one of eight kids. It wasn't until my Dad was in his seventies that we figured he did not inherit the defective HD gene.”

About twelve years ago, George and a sister, Kathleen Martinek of North Carolina, started wondering what had happened to the branch of the family affected by HD. As they got back in touch, they learned of the terrible devastation wrought by the disease.

Eventually they would discover that HD had stricken not only his grandfather and uncle, but another uncle, an aunt, three cousins, and a number of second and third cousins.

The disease also caused collateral damage, devastating those who lived at risk but did not develop symptoms.

“I found out recently from (a cousin), now 69, who we had lost track of, that she experienced the deterioration of her entire family and her own mental health,” George says. “She doesn’t want to talk about Huntington’s disease. She and her husband adopted children.”

George assumes the cousin had preferred to adopt rather than run the risk of passing on the mutation to biological children. Each child of an HD-affected parent has a 50-50 chance of inheriting the mutation.

To learn more about HD and the effort to stop it, George contacted members of HDSA-San Diego. In 2006, he joined the chapter board of directors. (I served on the board from 1998-2010.)

“I would like to help raise money for a cure and educate people about Huntington’s – starting with my own family and friends,” George said in an article about him that I wrote for the HDSA-San Diego newsletter.

I noted that George and his wife Theresa lived in Poway, CA. The couple has three grown daughters, who work in medicine, law, and education. George's hobbies include growing avocados, and he enjoys swimming and bicycling.

For about a year, George quietly observed the other board members at work. At the time, he told me he was searching for an effective niche on the board.

George Essig studies documents at the May 2007 meeting of the HDSA-San Diego board of directors (photo by Gene Veritas).

George had an infectious smile, but he was also very earnest and persistent in his efforts to make a difference for the cause.

A television and radio marketing specialist, George started to parlay his contacts in the local business, media, and pro sports communities into support for HDSA. He also generated ideas for fundraisers and advocacy efforts.

In 2012, George became the HDSA-San Diego board president. Since then, he has devoted most of his work days to leading the chapter’s continuing efforts to raise awareness and obtain funds for research towards treatments and a cure.

That year, he presided over the chapter’s 12th annual gala, which raised a San Diego chapter gala record $155,000 for HDSA.

“Volunteering works both ways as I have learned that I get a great deal in return and dream of the day, which we are all encouraged about, that a treatment for HD will be discovered,” George says in his HDSA profile. “And of course, that day can’t come soon enough.”

After reading his profile, I e-mailed George: “Thank you for sharing your family's powerful and haunting story – and your message of hope. If more unaffected relatives of the affected helped out, as you do, we'd be much further along in this fight.”

Learn more about George and his advocacy in the photos below. To donate to HDSA, please click here.

George and Theresa Essig (right) with San Diego Chargers quarterback Philip Rivers (in blue tie) and Essig daughters and sons-in-law at 2009 HDSA-San Diego Celebration of Hope Gala (photo by Mike Nowak). The San Diego chapter's signature event, the Hope Galas have brought in over $1 million for care and cure of HD since 2001. 

George speaks at the April 2011 meeting of the San Diego HD support group (photo by Gene Veritas). Each year the chapter board meets once with support group members to discuss chapter activities.

George with daughter Julie and wife Theresa at December 2013 screening of the HD documentary Alive and Well (photo by Gene Veritas)

George addresses the crowd just before the start of the 2014 HDSA-San Diego Hope Walk on April 13 (photo by Gene Veritas). The event garnered more than $40,000 for HD care and cure.

Fathoming Huntington’s disease, genetic testing and the biotechnological era in an academic setting

The decision to undergo genetic testing for an inherited, untreatable disease carries the risk of a devastating, life-transforming result. We in the Huntington’s disease community know all too well the medical and social consequences of carrying the genetic mutation for this neurological condition, which produces uncontrollable movements, dementia, and mood and psychiatric disorders.

At the same time, testing positive for a genetic disorder can potentially provide an individual with sufficient advance warning to enable informed decisions regarding planning a family, finances, insurance coverage, career, and other key matters.

I’ve reflected frequently on the perils, benefits, and ethical challenges of genetic testing. In fewer than five years, my family faced three tests: my mother’s positive test (and diagnosis) for HD in 1995, my positive test in 1999, and our daughter’s negative test in the womb in 2000. I have discussed genetic testing in many articles in this blog as well as in the nearly dozen speeches I have made on HD in the past four years.

I prepared practically all of these written and oral accounts for audiences mainly familiar with HD and the issues surrounding genetic testing. Testing was always just one topic among many covered.

As poignant as ever

Recently I was prompted to ponder genetic testing again, but in a different format and setting. At the invitation of Nazin Sedehi, a senior at the University of San Diego (USD), I participated in a video on HD and my family’s experiences with genetic testing.

After exiting the “HD closet” in late 2012 with the publication of an article in The Chronicle of Higher Education, USD placed a feature story and photos of me and my family on its website.

Now, at Sedehi’s behest, I did an interview for two websites aimed at helping a general audience explore the dilemmas of genetic testing and other bioethical challenges.

Sedehi conducted the interview with the benefit of her studies as a pre-med interdisciplinary humanities major. I was distinctly the subject of Sedehi’s research. The interview had a decidedly academic purpose in the broadest, most positive sense of the word: gathering, reflecting upon, and disseminating critical knowledge.

For the first time in an oral presentation, I focused almost exclusively on genetic testing.

Despite having touched often on this topic, it felt as poignant as ever to reflect on it again.

‘You can’t kill the gene’

I met Sedehi after reaching out to her and others at USD who last year set up a new student-designed website called Genetics Generation. The site aims to provide impartial information about genetics-based technologies and engage the general public regarding genetics and ethics.

The interview took place in my office at USD, where I have taught since 1993 and chaired the Department of History since 2009. Sedehi produced the video for an independent study supervised by Laura Rivard, Ph.D., an adjunct professor in the USD Department of Biology, with the purpose of generating content for the student-run site and Dr. Rivard’s Genetics Generation blog at Nature Education’s Scitable online teaching/learning portal.

“You know, you can’t just extirpate this thing from your body,” I state at the start of the video, underscoring the genetic nature of HD. “It’s not like a virus that you can hope goes away with time if you take some orange juice, and the cold virus goes away. It’s not like a bacteria, which you can treat with an antibiotic.”

I speak as the juxtaposed images of a normal brain and a shrunken HD brain fill the screen.

A scene from the video comparing a normal with an HD-affected brain

“It’s not even like cancer,” I continue. “In cancer there’s chemotherapy, there’s radiation. You can kill the cancer cells. But you can’t kill the huntingtin gene.”

Sedehi cuts to my response to the question about my reason for getting tested. I explain that I wanted to get tested “immediately” after learning of my mother’s diagnosis. However, on the advice of people familiar with the social risks of genetic testing, I postponed my decision.

Ultimately, I decided to get tested.

“It would be a way for me to fight back,” I declare. “Knowledge is power, and having that knowledge would enable me to care for myself in the best way possible, as a way to avoid the symptoms of the disease.”

Our most difficult experience

Then the interview tackles the most difficult issue my wife and I faced: the testing of our daughter.

“We knew that because I had tested positive for the disease, the potential child had a 50-50 chance of inheriting the mutation,” I say. “We also knew that when a father passes on the disease, he in some instances can pass it on in a far worse form. She was tested in the womb.”

I note that this was before the arrival of preimplantation genetic diagnosis, which couples today use to screen embryos for the HD mutation.

“The happiest day of our lives was learning that she had tested negative for the Huntington’s disease mutation,” I state, adding, however, that the “entire experience was certainly one of the most difficult, if not the most difficult, experience my wife and I went through together.”

No regrets, but a changed life

When Sedehi asks if I ever wish I hadn’t been tested, I respond that I have no regrets. I fantasize about a treatment that would free me and the rest of the community from the scourge of HD.

At the same time, I recognize that HD has profoundly changed my family’s life.

“Life’s not just about Huntington’s disease, but it really did change the way we looked at life,” I recall. “It changed the way we think about money, about career, about whether we should move, about the number of children we should have, whether we can buy a retirement home in South America. … It really made us much more cautious in planning for the future.”

Sedehi wants to know what comes to mind when I hear the words “Huntington’s disease.” I respond instantly: my mother and her utter dependence on my father and other caregivers.

Families of HD people witness two deaths, I add.

“The first death is when the person loses a large part of his or her personality, and cannot talk any more, cannot communicate,” I explain. “It’s as if you’ve lost that person already. The second death is when they die the physical, final death.”

Germinating beneficial ideas

You can read Sedehi and Dr. Rivard’s introduction, watch the video, and participate in an online discussion by clicking here. You can also watch the video below.

Huntington's Disease Interview with Dr. Kenneth Serbin from Know Genetics on Vimeo.

The connections to Sedehi and Dr. Rivard mesh with my HD advocacy and the concomitant expansion of my scholarly research into the history of science, technology, and medicine (click here to read more).

Through our joint efforts, we can help raise awareness about the difficult challenges, as well as the great potential for medical breakthroughs, of the biotechnological era.

Our collaboration reflects the trend towards what academics refer to as “interdisciplinary” research and teaching, where professors from seemingly disparate fields pool knowledge and differing perspectives to understand problems.

Dr. Laura Rivard (photo from Genetics Generation website)

(In a similar vein, on April 3 USD sponsored a well-attended interdisciplinary panel discussion on ethics and genetic testing, with a focus on the highly controversial direct-to-consumer genetic testing service 23andMe. Dr. Rivard organized the event. I plan to write more about it in a future article.)

Ultimately, the interdisciplinary approach can and should seek to solve problems – in this case, the dilemmas of genetic testing and the dire need for treatments for neurological disorders that strain millions of families and the nation’s caregiving system.

Dr. Rivard’s efforts embody the capacity of academic institutions to teach and reflect. Though some criticize higher education and especially the liberal arts for their purported ineffectiveness in preparing young people for the workplace and life, we should recall that the germination of ideas in universities produces numerous benefits for society.