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.

After a Social Security setback, HDSA steps up advocacy on Huntington’s disability criteria

The Huntington’s Disease Society of America (HDSA) is calling on the HD community and its supporters to urge the Social Security Administration (SSA) to update and expand its listing (description) of the disorder so that patients suffering from all types of symptoms can qualify for disability benefits.

Listings are medical criteria for evaluating disability claims involving diseases and disorders as determined in the Social Security Act. Written decades ago, the current SSA listing for HD mentions only the motor symptoms, the involuntary movements caused by the deterioration of the brain. However, HD also produces cognitive decline and psychiatric and behavioral issues, which usually leave patients disabled. Both of these symptom types often occur before the motor symptoms.

In the past decade, HDSA worked for the introduction of a bill in Congress, the Huntington’s Disease Parity Act, to change the HD listing and eliminate the two-year waiting period for benefits. HDSA has also directly lobbied the SSA.

Initially, the SSA responded favorably. It took a big step in April 2012 by listing juvenile onset HD as eligible for a Compassionate Allowance, thus quickening the approval of applications for benefits, which can take many months and even years and sometimes require applicants to resort to an arduous appeals process. Later that year, adult onset HD also became eligible for the allowance. (Click here to read more about Compassionate Allowance, HD, and Social Security benefits.)

However, when the SSA on February 25 released its draft of updated neurological listings – the first such revision in more than 30 years – the description for HD remained woefully inadequate.

A ‘glaring omission’

“We were certainly disappointed when the listings … made no practical advancements in the ability of their (SSA) examiners to have a true picture of the clinical manifestation of Huntington’s,” said HDSA CEO Louise Vetter in an interview today. “They continue to depend on the motor symptoms. There is a large body of knowledge obviously that gives the cognitive and behavioral symptoms equal importance in the progression of the disease.”

HDSA CEO Louise Vetter (photo by Gene Veritas)

On March 27, HDSA issued an analysis of the SSA HD listing that it posted on its website (click here to read more).

“Based upon HDSA’s analysis, this listing leaves many of the same gaps unaddressed and is worse than the listing we have now,” the society states. The proposed listing puts even more emphasis on the motor symptoms. (To obtain benefits, patients must be examined by at least one doctors and provide any medical documentation requested by SSA.)

The HDSA analysis found an “inconsistency between the listings (that do not mention any non-motor symptoms) and the preamble, which states that: ‘When these disorders result in solely cognitive and other mental function effects, we evaluate the disorder under 12.02/112.02 (for juvenile).’” The number twelve refers to the mental health listings, where general issues with neurological disorders such as HD are also described.

HDSA argues that “unless these other sections are spelled out in the listing itself, the examiner (and even a medical professional who is unfamiliar with HD) won’t know that they should look at the preamble because the person with HD appears fine in person and often lacks the insight to describe symptoms.”

The “glaring omission” of non-motor symptoms in the SSA listing “will cause individuals disabled by non-physical symptoms to be denied,” the HDSA analysis concludes.

One advocate told me privately that the SSA and HD specialists “don’t always speak the same language.” For instance, what HD specialists describe clinically as “apathy,” a hallmark symptom of HD, must be found in the SSA criteria under “anhedonia.”

Educating the bureaucracy

As of this writing, the SSA point person had not responded to my phone message requesting comment on the HD listing. Cheryl Williams of the SSA Office of Medical Listings Improvement is indicated as a contact person in the Federal Register, where the SSA published the proposed neurological listings.

Vetter offered “two plausible explanations” for the inconsistency in the neurological listing.

First, the SSA is “struggling with a change in leadership” after Commissioner Michael Astrue finished a six-year term, retiring in February 2013. Astrue had approved the Compassionate Allowances and even appeared in a video made specially for the 2012 HDSA national convention. Since Astrue’s departure, SSA has operated under an acting commissioner, Carolyn Colvin. Thus, “new staff” received the task of revising the neurological listings, Vetter observed.

Second, Vetter noted the complexity and length of a document covering numerous neurological conditions.

“I recognize that it’s a tall order to conveniently define HD,” she said. “This is a bureaucracy looking for simple definitions, and HD is not easily characterized in convenient language. From that perspective, they’re trying to simplify a complex disease. That is inevitably going to lead to some gaps, and we’re calling them out on that.”

Pressing for a meeting

Vetter added that, at some level, the SSA doesn’t sufficiently understand HD. HDSA is seeking “direct dialogue” with the SSA, but so far the SSA has refused to meet.

Vetter speculated that, if the SSA meets with HD community representatives, it fears “the slippery slope” of having to meet with all disease groups.

HDSA, Vetter said, must convince the SSA of the uniqueness and complexity of HD and therefore the need for more “guidance” for the medical examiners who determine whether HD patients receive disability benefits.

“We should be granted an exception,” she declared. “We won’t take no for an answer on this one.”

How to send a message to Social Security

HDSA CEO Louise Vetter has formally submitted the HDSA analysis as a comment for SSA consideration, as have several dozen other HD advocates and family members.

Vetter urged HD advocates, family members, and supporters to also submit comments to the SSA. You can view others’ comments and add your own by clicking here. Your can simply state that you support the HDSA's input on the Huntington's listing, or you can leave a personalized comment of greater length.

The deadline for comments is April 28.

Removing barriers to understanding HD

Advocacy on this issue forms part of a larger effort by HDSA and the HD community in favor of the Huntington’s Disease Parity Act of 2013, a bill that would direct the SSA to update and expand its HD listing and waive the two-year waiting period for HD patients to receive Medicare benefits.

The current setback is “not a reflection on the HD community’s momentum at all,” Vetter said. “I know that we still have many strong advocates in the SSA. They are trying to find a way to accommodate HD in a complex process. Hopefully they’ll be able to accomplish that quickly. I don’t think we should be disheartened.”

Little by little, HD advocates are “removing barriers” to understanding of the disease, she added.

To learn more about how you can assist with HD advocacy, contact the nearest chapter of HDSA or write advocacy Jane Kogan, HDSA’s manager of education and advocacy, at jkogan@hdsa.org.

Woody Guthrie, Huntington’s disease, and our duty to improve caregiving

By revisiting the huge, long-abandoned New Jersey mental hospital where radical songwriter and performer Woody Guthrie struggled for five years with the symptoms of Huntington’s disease, photographer and author Phillip Buehler provides us with a valuable new perspective on the crisis in care for people disabled by neurological disorders.

In Woody Guthrie’s Wardy Forty: Greystone Park State Hospital Revisited (Woody Guthrie Publications, Inc., 2013, 162 pages), Buehler, a specialist on derelict buildings, captures the rooms, corridors, and grounds of the psychiatric facility that housed Guthrie between 1956 and 1961. It had over 6,000 patients and had some 2,000 employees at its height in the 1960s.

A companion volume, Woody Guthrie’s Wardy Forty: The Interviews, provides background from those who knew Guthrie or are involved in the campaign against Huntington’s. (Click here to purchase the books.)

Woody Guthrie (above) and the new books about his time at Greystone Park State Hospital (below) (photos from www.woodyguthrie.org)

Utterly debilitated and unable to speak, Woodrow Wilson Guthrie, the composer of “This Land is Your Land,” died of Huntington’s at Creedmoor State Hospital in Queens, NY, in October 1967 at the age of 55.

Today the United States has an estimated 5.4 million Alzheimer’s disease patients, and an additional 14.9 million family members and friends cope with the disease as caregivers or in other ways. About one million people suffer from Parkinson’s disease.

Huntington’s disease (HD) patients number 30,000, with an additional 150,000-250,000 at risk. The government classified HD as an “orphan,” or rare, disease because of the relatively small number of people affected (fewer than 200,000). Numerous other disorders have similar symptoms. By mid-century, as many as 120 million people worldwide will suffer from dementia.

The world must shoulder a massive caregiving burden. Most people affected by such illnesses will require care ranging from in-home assistance to admission to a nursing home.

While researchers have made strides studying the symptoms, causes, and treatment of these conditions, caregiving has not advanced. Professional caregivers typically earn very low wages and receive little training. Even many doctors cannot properly diagnose rare disorders such as HD.

“Long term care remains a scandal in the United States,” Alice Wexler, Ph.D., a board member of the HD-related Hereditary Disease Foundation and author of two books on the disease, writes in a brief history of the disease included in Buehler’s book. “Persons living with HD and their loved ones – and all those with chronic neurodegenerative and psychiatric illnesses – still struggle mightily to find appropriate and affordable support and care, at home while they are still able, in facilities when they are not.”

In a case that shocked the HD community, in May 2013 a 49-year-old, late-stage HD patient was allegedly strangled in an Oregon nursing home by another patient whom police described as suffering from “severe dementia.”

To complicate matters further, the Genetic Information Nondiscrimination Act does not provide protection to people seeking life, disability, and long-term care insurance. Thus, as genetic testing, including full DNA sequencing, promises to become ubiquitous, people run the risk of not getting the coverage they will most need as they live ever longer lives. Only three states (California, Oregon, and Vermont) prohibit this type of discrimination.

Lives instantly transformed

My own family has struggled with Huntington’s disease since the late 1980s, when my mother Carol Serbin started having strange swings in mood. A few years later, she developed chorea, the involuntary movements most Huntington’s sufferers develop, causing some to appear as if they are dancing.

Nobody in the family understood what was wrong until in 1995 a neurologist suspected Huntington’s. Just two years before, researchers had concluded a two-decade quest to find the disease-causing gene, which they called “huntingtin,” like the disease named for the American physician George Huntington.

In 1872, Dr. Huntington published an article describing HD’s symptoms and definitively establishing it as a genetically transmitted condition. Everybody has this gene, which is essential for life, but when it expands beyond its normal size, it causes brain cells to die. The discovery of the gene allowed for a definitive test for the disease, though, unfortunately, science has yet to provide effective treatments, much less a cure.

Receiving the news of my mother’s diagnosis the day after Christmas 1995, my wife Regina and I saw our lives transformed before us in an instant. With no treatment or cure, HD was fatal. All children of an affected parent had a 50-50 of inheriting the condition. Most people experience disease onset between the ages of 30 and 50, and everybody with a certain degree of gene expansion or greater will develop the condition.

My mother’s diagnosis and the fear that I might carry the genetic expansion compelled me to fight back in any way I could. Regina and I immediately started attending the local support group of the Huntington’s Disease Society of America (HDSA), and I became an HDSA advocate.

I began writing about my experiences in this blog. Because of fear of genetic discrimination, until recently, I performed all of this behind the scenes, for example writing under a pseudonym, Gene Veritas.

The fear that I carried the mutation led Regina and me to postpone starting a family. By 1999, however, we agreed to try. First, I decided to get tested. I was especially worried about transmitting the mutation, because sometimes men pass on an even longer expansion, resulting in an early-onset form known as juvenile Huntington’s.

Our worst fears were confirmed: I had the same expansion as my mother and would likely develop the disease in my forties or fifties.

We then embarked on the most difficult decision of our lives: the testing of our daughter in the womb (so-called preimplantation genetic diagnosis was not yet available). After weeks of waiting for the results, we received the happiest news of our lives: our “miracle baby” was HD-free! Today Bianca is a thriving middle school student.

The genetic mirror

Throughout this period, I juggled my roles as college professor, father and husband, and Huntington’s disease advocate – all while watching my mother’s inexorable decline. In addition to her psychiatric symptoms and chorea, she suffered from the third manifestation of the HD triad: cognitive loss and dementia.

“Each encounter with my mom became a view into a nightmarish genetic mirror,” I wrote to a physician friend who included my story anonymously in a September 2005 Washington Post article on HD. “I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.”

Around that time, because my “HD warrior” and caregiver father Paul could no longer care for my mother at home, he placed her in a nursing home. She died quietly in her sleep in February 2006, at 68.

Paul and Carol Serbin (photo by Gene Veritas)

Finally seeing the beauty

Following Guthrie through the pages of Buehler’s books, I was prompted to reflect on my relationship with my mother as she struggled with HD as well as on how our system of caregiving must improve.

Disease communities are used to emphasizing the devastation of the their particular conditions. The devastation is real. But there is more to the person than the illness. I regret not having the emotional strength and presence of mind to have seen my mother more as a person and less as a mind and body racked by the symptoms of Huntingon’s. Because I had tested positive for the mutation, often “my fear of HD kept me from sitting down with her and attempting to converse,” I once wrote.

In the “Foreword” to The Interviews, Guthrie’s daughter Nora recalls her own hesitancy as a 15-year-old to reach out to her father and how she ultimately learned to appreciate the man who, despite HD, understood his daughter’s feelings, a man who possessed “twinkling eyes and a mischievous grin, releasing us all to live our own lives completely and wonderfully, taking each day and each situation as it comes.” Her father “lived with this disease, but he never became Huntington’s disease.”

“As I turn these pages, I can finally see a beauty that has taken me over fifty years to recognize,” Nora writes of Buehler’s photographs of the hospital where she, her mother Marjorie, and brothers Arlo and Joady visited Guthrie on the weekends and held picnics on the lawn, the children often playing in a large tree their father dubbed the “magicky tree.” “These images are merely ruins, the gross leftovers, the little pieces, chipped and peeling fragments of a life felt and lived so vividly and boldly.”

Discrimination and misdiagnosis

The Guthries’ story became my family’s story, too. I remembered how I had travelled from my home in San Diego to visit my mother in the nursing home in suburban Cleveland shortly before she died. She shared a room with a woman paralyzed from the neck down. The attendants tried to feed my mother but didn’t give her much more than a few spoonfuls before quitting. Always patient, my father had done a better job of feeding her when she was still at home. He would feed her once a day at the nursing home, too. Still, she was losing energy, slowly slipping towards death.

As the books recount, Guthrie faced the kind of discrimination still faced by HD people today: police officers and member of the general public often believe that HD people are drunk. In 1956, Guthrie was picked up by New Jersey state troopers, who thought he was a vagrant. Only after a phone call from a friend did the troopers comprehend that he needed medical attention.

At first, the medical personnel at Greystone refused to believe Guthrie’s claims to have written thousands of songs. Instead, they described him as “delusional” and diagnosed him as a paranoid schizophrenic. HD is frequently misdiagnosed, in part because many doctors have little or no knowledge of the disease.

“Paranoid schizophrenia was a very common misdiagnosis – as were others including Parkinson’s disease, Alzheimer’s, all kinds of psychiatric illnesses and people were just locked away,” says Dr. Michael Hayden, a world-renowned HD expert and leader in the quest for treatments, in an interview with Buehler.

It took years to discover the cause of my mother’s difficulties. She, too, had received different diagnoses, and some of her doctors seemed indifferent or unwilling to get her to the right specialist. At first she was put on Haldol, an anti-psychotic also used to try to control chorea in HD. I quickly learned, however, that neurologists who understood HD avoided Haldol because of negative side effects, so we got her off of it as quickly as possible.

A difficult environment

The first two images in Buehler’s work are Guthrie’s Greystone intake photographs, which Buehler found in the basement of the admissions building, shown on the next page in a recent shot by the author. Later we come across Guthrie’s bed in Ward 18 of the clinic building.

Images of Greystone Park State Hospital and a letter written there by Woody Guthrie (photos from www.woodyguthrie.org)

“I remember one time walking through the entire ward with beds lined on both sides to get to my father’s bed at the very end,” Nora recalls in the accompanying text. “The walk seemed to take forever. All around us were strange people yelling, talking to themselves, uninhibited or somber.”

I’ve learned that most HD patients are mixed in with individuals with other conditions in facilities where personnel have little, if any, knowledge of HD. HD family members must often educate health personnel about the disease. Perhaps my mother would have lived longer had there been a nursing home with appropriate enrichment activities for her condition.

Guthrie lived most of the time in Ward 40, which, with his typical mirth, he nicknamed “Wardy Forty,” as in the 1956 letter that appears in the book. Although HD by this time had robbed Guthrie of his ability to play guitar, he continued to write frequently, although ever less legibly.

My mother was always in charge of balancing the family checkbook and writing Christmas cards. For a while after HD struck, she continued these activities. She used a ruler to make perfectly straight lines on which to write addresses. She eventually lost the ability to write.

A caregiver’s dedication

In a 1956 play titled “My Forsaken Bibel [sic],” written at Greystone, Guthrie responds to a friend’s question about how he inherited HD from his mother: “Hit my mother Nora Belle when she was about 40. Made her just go into such violent fits and such violent kinds of spasms that, well, she just wreckd [sic] and just wracked every single house we did live in. My cardiographer over yonder in Brooklyn just told me my mother’s chorea sorta passled [sic] on to me here.” Nora Belle died in an Oklahoma mental hospital in 1929.

My mother loved to sew. I remember the Halloween costumes and other clothing she made for me. One day she just stopped. She left scores of patterns unused. Like Guthrie, I love writing. I have already passed my mother’s age of onset. How much longer before HD erodes my ability to express myself? Will I need to go into a nursing home? Will a treatment be found?

Marjorie loved and cared for Guthrie despite the fact that they had separated about a decade earlier because of strains over the disease. They eventually divorced. Near the end of Wardy Forty, Buehler places photographs of the couple at her Queens home, where she would take her husband for visits.

“She stripped him of his clothes and scrubbed him in the bath, sprinkling him with talcum powder and singing, 'Doesn’t he smell sweet now!'” Nora recalls in the accompanying text. “She would wash and iron his clothes, sew up the tears, and dress him like a mother dressing her child for a first day of school.”

Once my father, daughter, and I went with my mother to a park. My mother needed to use the rest room. We had to lift her from her wheelchair and maneuver her clumsy and unresponsive body into the stall. It was like moving dead weight. She nearly fell. When she was finished, we had to repeat the process in reverse. Later, in her final months of life in the nursing home, my father visited her every day. Dejected by her death, his own dementia worsened dramatically. A year after she died, he started taking a large, beautiful, framed picture of her wherever he went, including restaurants. In 2009 he, too, died in a nursing home

Time to stop ‘throwing away’ people

The final two images of Buehler’s book are of Guthrie’s Greystone discharge photos from April 1961, which contrast with the 1956 frontal intake photo. Initially, Guthrie looks into the camera. His expression is sad, but he appears relatively healthy. Upon discharge, however, he casts his eyes downward, typical of the difficulty HD-affected individuals have with visual focus. He appears to have lost much weight.

Arlo was 19 when his father died. That same year, he released the song “Alice’s Restaurant,” a protest of the Vietnam War draft. In 1969 he starred in the Hollywood movie based on the song and performed at the Woodstock Festival. Arlo himself never tested for HD and has not shown symptoms.

In Wardy Forty, Arlo has a strong message about Greystone and its residents: “These places were built so that they wouldn’t be a burden on society. You could throw away your odd child, put him in one of these towns, almost like sending people to Australia from England years ago. Penal colonies. And so it’s no wonder why they ended up in this sort of notoriously bad scene. They were set up from the very beginning to be away from the world, and not be part of it. Greystone is a real monument to that.”

The idea behind Greystone still largely governs our outlook on care for the neurologically disabled.

People across the country are acting to correct the situation. Maria Shriver and former Supreme Court Justice Sandra Day O’Connor – both lost loved ones to Alzheimer’s – have warned the public of the Alzheimer’s “tsunami” about to hit America.

In Vermont, HD activists successfully advocated for state laws preventing inappropriate transfers of nursing facility residents and requiring public assistance for home-based and community-based care. At the national level, HDSA is pressuring Congress and the Social Security Administration to update long-outdated and inaccurate disability criteria for HD and to waive the two-year waiting period for patients to receive Medicare benefits.

Responding to press reports of corruption and abuses and requests from advocates, California state legislators in January announced twelve bills aimed at addressing the inadequate care in the state’s assisted living facilities and nursing homes.

Indeed, the time has come to develop a more compassionate society by valuing both the person cared for and the caregiver.