HDSA’s renewed commitment to critical research

After a budgetary crisis that practically eliminated support to HD scientists in recent years, the Huntington’s Disease Society of America (HDSA) has committed itself to reestablishing a program of research projects critical for developing effective treatments.

In a September 28 e-mail message to “HDSA friends,” HDSA CEO Louise Vetter announced the hiring of George Yohrling, Ph.D., to fill the new position of Director of Medical & Scientific Affairs.

“In the past we have relied upon the volunteer support and consultation of physicians and scientists,” Vetter explained in an interview in San Diego on November 16. “We will continue to do so. But based on what the pace of HD research is right now and our vision to have a new research program, we felt it was the right time to bring that expertise in-house.”

Dr. Yohrling, a molecular neuroscientist, has worked in the HD field since 2000.

“His first job was with an HDSA Coalition for the Cure lab,” Vetter said. “He was funded with an HDSA grant, and he has continued to stay in the field.... He has real expertise in HD, which is incredibly important. His primary task is to launch a new research program for the organization.”

The hire marks the first step in fulfilling a series of goals outlined in HDSA’s first-ever strategic plan, formulated after broad consultation with the HD community in 2011 and 2012, and launched by Vetter at the annual HDSA convention last June (click here to read a report on the drafting of the plan).

In response to recent criticisms of HDSA because of the drastic decline in research support (click here to read more), Vetter stated that HDSA is working “to have the most impact for the most people and help set the course for the best care and the best treatments as soon as possible.”

(Watch the entirety of my interview with Vetter in the video below.)

Avoiding repetition

In crafting the new research program, HDSA planners took into account the organization’s limited budget (about $8.5 million annually) and strived to avoid duplicating efforts by other HD initiatives focused strictly on research, Vetter added.

Those initiatives include the CHDI Foundation, Inc., which spends tens of millions of dollars annually, and the Hereditary Disease Foundation (HDF). Unlike HDSA, they do not offer support groups, care centers, or other forms of patient outreach.

Both Vetter and Dr. Yohrling emphasized that the new research program will focus on HD research in humans and human cells. This contrasts sharply with – but also necessarily complements – the research conducted on animals.

Focusing on humans

“We’re calling it ‘Human HD Biology Project,’” Dr. Yohrling said in a November 26 interview. “All of the observations will be from human HD patients, and not from a worm or mouse or fly. There’ll be no arguing about the physiological relevance of the data we will acquire.”

Dr. Yorhling explained that the project will function like a post-doctoral or clinical fellowship program. Young scientists will partner with the directors of HDSA’s 21 Centers of Excellence for Family Services and Research, which see patients and other HD family members on a regular basis. It replaces the Coalition for the Cure grant program, which ceased to exist with the onset of the budget crisis.

Dr. George Yohrling (CHDI photo)

The new researchers will focus on tasks such as the search for human biomarkers – specific signs of the disease within bodily fluids or tissues or the brain, for example – that will become crucial for measuring the effects of potential remedies.

“These are studies, not clinical trials, but their outcome could and should help support, drive, and steer clinical trials,” Dr. Yohrling explained, adding that he is currently recruiting HD specialists to serve on the program’s advisory committee, which will review the applications from researchers.

Grants will be relatively modest, Dr. Yorhling indicated. “These won’t be $250,000 jobs,” he said. However, because of the clear emphasis on non-redundancy, “hopefully we’ll get a big bang for our buck,” he added.

HDSA has already raised funds to kick off the project, Dr. Yorhling said, although both he and CEO Vetter recognized the need to increase fundraising to expand support for research.

HDSA hopes to issue its first call for proposals in early 2013, Dr. Yohrling said.

HDSA also will continue to support an important consortium of HD stem cell researchers, he noted.

A pivotal player

Dr. Yohrling’s diverse experience in HD research makes him a pivotal player in the search for treatments.

After receiving his Ph.D. in pharmacology from Wake Forest University in 2000, he became the very first post-doctoral researcher in the lab of Jang-Ho Cha, M.D., Ph.D., at Harvard Medical School/Massachusetts General Hospital. (Dr. Cha is a member of the HDSA Board of Trustees and will chair the HD Human Biology Project Advisory committee.) During his two years under Dr. Cha, he “got to see and interact with HD firsthand.”

“Any human being with a soul in their body” would be motivated to help, Dr. Yohrling recalls of his initial, serendipitous contact with Dr. Cha and the HD team while in Boston searching for a post-doctoral position. “I was hooked. I felt it was my calling.”

Under Dr. Cha, Dr. Yohrling also received an HDF grant.

Dr. Yorhling spent the next five years conducting Alzeimer’s disease research at the pharmaceutical giant Johnson & Johnson, followed by two years at Galleon Pharmaceuticals, Inc., researching respiratory conditions.

In 2009 Dr. Yohrling joined CHDI, which he described as a “dream” of an opportunity to focus fully on HD research in a large, resource-rich organization. There he served as director of target assessment and then director of systems biology-pathway assessment. Working with firms and leading HD scientists, he managed millions of dollars in research contracts. He also led the development of HD Research Crossroads, an online repository of HD-relevant drug target validation data.

Impacting patients with ‘all hands on deck’

CHDI was “more a behind-the-scenes operation,” Dr. Yohrling observed. “HDSA is more of a grassroots, family-oriented foundation. The opportunity to get back to that, while also getting involved in human biology research, was an opportunity too good to ignore.”

Responding to the argument that HDSA should let others concentrate on research while putting funds strictly into social services, Dr. Yohrling observed that the HDSA board and HD families want the organization “back involved in research and not to leave it up to the other entities like CHDI, HDF, and the government,” although his key responsibilities will include maintaining “an open line of communications” with those and other HD research organizations.

“We’re really glad to have someone like George working at HDSA,” said Robi Blumenstein, the president of CHDI Management, Inc., which carries out the day-to-day tasks of CHDI’s mission. “It just furthers our ability to collaborate.”

“I think that HDSA is well-positioned with their centers of excellence around the country,” Dr. Yohrling continued. “This is an incredible resource. It’s a huge benefit that HDSA has over other foundations or organizations, this access and close connection to the patients. A research program, although it might be limited initially, if the money is use properly and thoughtfully, can have a huge impact on the lives of patients.”

“We need all hands on deck,” said Vetter, adding that everybody in the HD community can take small but important steps to help the cause by keeping in touch with attending physicians, learning about HD research, and participating in clinical trials and research studies. “As we look at the dawn of a new time of HD therapeutic development, the only way those drugs are going to come to market is if people get involved. Getting involved is the most important thing that the HD community can do right now.”

Lifting Huntington’s families’ spirits with the promise of clinical trials

Perhaps nothing lifts the spirits of struggling Huntington’s disease families more than news about research breakthroughs.

With people emitting oohs and ahs about some of the key developments, you could feel the excitement in the room Monday evening, September 24, as Jody Corey-Bloom, M.D., Ph.D., presented her annual research update to the support group of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA).

The director of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego (UC San Diego), Dr. Corey-Bloom kicked off the update with the hottest topic in the HD research world: gene silencing techniques aimed at attacking the disease at its roots.

“This is a big thing,” Dr. Corey-Bloom stated. “There are actually two methods to accomplish this that are under way in research labs around the world…. We want to switch off the gene that is responsible for Huntington’s disease. A lot of people feel very good about these techniques.”

Before a room packed with some 50 support group participants, Dr. Corey-Bloom proceeded to outline the efforts to set up clinical trials to test RNA interference (click here to read more) and antisense oligonucleotides (ASO) (click here to read more) as ways to block the negative effects of the HD gene, which produces a harmful protein.

“If we can get rid of this harmful protein, there’s a good chance that we could slow down the disease or even prevent it,” Dr. Corey-Bloom explained.

Dr. Jody Corey-Bloom at a 2010 HD research meeting (photo by Gene Veritas)

A trial in 12 months?

“It’s likely that we’ll see both approaches being tried,” Dr. Corey-Bloom said, noting, that, given the current state of the science, it appears that the ASO approach will enter a trial first.

Dr. Donald Cleveland of UCSD and Isis Pharmaceuticals, Inc., of Carlsbad, CA are nearly “ready to go” with a clinical trial, perhaps as soon as within 12 months, she observed.

“The critical thing to say here is that we really are edging closer to human trials,” Dr. Corey-Bloom emphasized.

The trial site has not yet been determined.

Dr. Cleveland, UCSD’s Ludwig Institute, and Isis will be honored at HDSA-San Diego’s 12^th Annual Celebration of Hope Gala on November 16, 2012.

In the coming weeks, I will report in detail on the UC San Diego/Isis project, which is mainly underwritten by the CHDI Foundation, Inc., the multi-million-dollar, non-profit biomedical research foundation dedicated exclusively to accelerating Huntington’s drug discovery and development.

You can watch Dr. Corey-Bloom’s presentation in the video below.

The shock of HD’s reality

Having tested positive for HD in 1999 and watched my mother succumb to the disease in 2006, I was thrilled to hear the news about the Isis ASO trial.

I have tracked the progress of the project since early 2008, shortly after the start of the CHDI-Isis collaboration (click here to read more).

Isis had first estimated that a clinical trial could start in late 2010. As with many scientific endeavors, delays have occurred. Now that a trial could realistically begin next year, I can once again fantasize about living free of this scourge that robbed my beloved mother of her ability to walk, talk, eat, and care for herself, leaving her a mere shadow of herself.

The support group meeting proved especially poignant for me because I had not attended for a number of months. After a summer break from my usual intense focus on HD, I once again confronted the reality of my own future in the faces of the HD-affected individuals I saw at the meeting.

Seeing these disabled individuals shocked me into renewing the fight to save them – and myself.

At 52, I am now at mother’s age of onset. Once again, I felt extremely lucky to have avoided the noticeable, classic symptoms of HD.

Imagining a healthy future

I have attended Dr. Corey-Bloom’s updates for about ten years. Each time, she manages to provide clearer and more comprehensive information.

Squeezing literally dozens of research developments into an hour-long talk and making it understandable for a general audience is no small challenge. As I told her afterwards, “You just get better every year!”

This year’s update especially served like a salve to calm my worries, which had heightened considerably after hugging one HD-affected friend who seemed to have declined since I last saw her a few months ago.

As Dr. Corey-Bloom spoke, I imagined this HD sister becoming healthy again and happily growing old with her family.

A Compassionate Allowance, and faster Social Security benefits, for the juvenile Huntington’s disease community: a key step for advocacy

In a key step for Huntington’s disease advocacy, children and youths stricken with the juvenile form of HD will receive Social Security benefits faster, thanks to a Social Security Administration’s (SSA) decision last month.

Now that juvenile onset Huntington’s (JHD) is listed as eligible for a Compassionate Allowance (CAL), a ruling SSA Commissioner Michael J. Astrue announced on April 11, those who are eligible for and apply for desperately needed benefits will see their applications approved much more quickly.

“This is an important victory for all families facing juvenile onset Huntington’s disease,” said Louise Vetter, the CEO of the Huntington’s Disease Society of America (HDSA), which lobbied to obtain the CAL. “Currently, applicants usually go through a long decision process and are sometimes denied benefits that are only won after arduous, long appeals.”

HDSA CEO Louise Vetter (photo by Gene Veritas)

When the CAL takes effect on August 13, an individual with JHD will receive approval of his or her application for disability in as little as a few days instead of the months the process currently takes. The change results from the CAL’s simpler application criteria, based on “minimal objective medical information,” an HDSA press release stated.

An estimated 10 percent of the approximately 30,000 Americans afflicted with HD have juvenile onset. JHD joins 165 other conditions, including 52 announced in April, considered so devastating that they merit a CAL.

Streamlining the process

“Over the past several years, we have been working with SSA to streamline the disability application process for HD, and to advocate for a CAL designation for HD through letters, testimony at hearings, face-to-face meetings, as well as legislation such as the Huntington’s Disease Parity Act (HR 718/S 648),” the HDSA release stated.

The fast-track application for Social Security Disability Income (SSI) means that JHD families should receive their benefits one month after completing a short, online application, explained Jane Kogan, HDSA’s advocacy manager. The main requirements will consist of a genetic test for the disease and diagnosis for JHD, she added.

SSI benefits generally amount to monthly payments of several hundred dollars, depending on the applicant’s financial and living circumstances.

SSI applicants must still demonstrate very low income levels to qualify, thus leaving many JHD families without SSI, Kogan observed. (Click here and here to see for SSA eligibility guidelines.) Low-income JHD families can also qualify for Medicaid.

The fast-track process also will cover a JHD youth applying for Social Security Disability Insurance (SSD), although such cases are extremely rare because JHD prevents people from working enough quarters to qualify, Kogan said. Many JHD individuals never work, with some dying in childhood. Even if a worker qualified, he or she would still have to wait two years to receive the first SSD check – a period that HD advocates want Congress to eliminate with the passage of the HD Parity Act, as described below.

“This is just a way to simplify the application process,” Kogan said of the CAL, a concept implemented by the SSA starting only in 2007. “It’s one way the SSA is trying to streamline its application process for conditions that are obviously disabled.”

SSA will publish guidelines for the CAL, including age requirements and criteria defining JHD, on its site on August 13. With the assistance of HD specialists, HDSA provided the SSA with documentation defining JHD and how it causes disability.

HDSA is currently preparing 21 Centers of Excellence, its 38 social workers, and medical professionals to assist JHD families to use the fast-track process. It has also developed a Disability Toolkit (click here to learn more).

Aiming for broader goals

The CAL designation for JHD does not help most of those afflicted by Huntington’s. “We will continue our dialogue with the SSA until adult-onset Huntington’s disease is also added as a CAL condition,” Vetter said.

Despite those limitations, it represents an important advance for the HD movement.

“This is a small, but significant victory for the HD community,” Dr. Martha Nance, the director of the HDSA Center of Excellence for Family Services and Research in Minneapolis and a contributor to the JHD documents, stated. “Recall that we have been working for a number of years to get legislation passed to facilitate the disability process for people with HD. Unfortunately, those advocacy efforts, while important and ongoing, have been slow.”

“HDSA decided to try a different approach, which was to go directly to the Social Security Administration, to get them to understand the unique needs of this particular disease,” she added. “We decided to focus first on JHD, because it seemed like a more uniform group/set of circumstances/life situation. We are thankful to the SSA for ‘getting it,’ and for being responsive to the needs of our families!”

HDSA and its advocates hope to use the political momentum from the CAL victory to achieve their broader goals in the area of public benefits.

“This is a very, very partial answer to a very small part of the problem,” Kogan explained. “The current (SSA) guidelines for HD don’t even include JHD.”

“We’re hoping this energizes people and that by showing up and speaking persistently, things do get done,” Kogan continued. “Just to make this (the CAL) happen, a number of people submitted their stories, when we first testified, and more recently, last summer, we surveyed the community about disability, and a number of people shared their stories.”

Jane Kogan


The HD Parity Act

A major goal, of course, is the passage of the HD Parity Act, which has numerous sponsors in both the House and the Senate but which has not been brought up for a vote. As noted above, this bill would eliminate the two-year waiting period for SSD benefits. It also would change the SSA’s woefully outdated criteria for HD, which only use chorea (tremors and dance-like movements) as a basis for disability but do not include the cognitive and behavioral symptoms. (Click here for details on the bill.)

Kogan also noted that the potential CAL for adult onset HD is “much trickier” because of the far more nuanced, slower onset in comparison with JHD. This fact further reinforces the need for the Parity Act.

As the HD community awaits passage of the bill, affected individuals may be able to qualify for Social Security benefits more easily by using a diagnosis of “mixed dementia,” Kogan noted (click here to learn more).

Kogan stressed that people should contact their representatives and senators now to push for passage of the bill. Because of the 2012 elections, politicians are in “election mode” over the next several months and want to show results for their constituents, she said. The CAL is a “newsworthy” item that advocates can promote and politicians can “latch onto,” she added.

Also, the CAL also provides the HD community with a powerful symbol for the observation of HD Awareness Month, May, now in progress.

It’s time for the Huntington’s community to speak out – and HDSA is listening

The HD community has a golden opportunity to both strengthen and shape the future of the Huntington’s Disease Society of America (HDSA) and its mission of care and cure – a mission that some grassroots advocates have seen as not fully encompassing their concerns and struggles.

With a deadline of February 24, a task force of the HDSA Board of Trustees seeks feedback on a proposed strategic plan for the years 2012-2016.

“Before the Plan is finalized and implemented, we want to receive input from all interested members of the community,” HDSA CEO Louise Vetter wrote in a letter posted on the HDSA website. The letter contains a link to the plan. A feedback form is located at the end of the letter. Click here to read the letter.

“The Strategic Planning Task Force spent hundreds of hours over 18 months conducting data review, community surveys, and holding discussions with individuals from every constituency of the HD community,” Vetter stated in the letter. “They used this information to assess the business of HDSA and develop this Plan for the growth of the Society, so that we can provide more services to families affected by HD and fund more research that can improve our knowledge base on HD and therefore lead us closer to effective therapeutic interventions.”

The task force included Vetter, HDSA Board of Trustees Chairman Donald Barr, and four other board members.

HDSA CEO Louise Vetter and Board of Trustees Chairman Donald Barr (photo by Gene Veritas)

As the 2011 HDSA Person of the Year and a former board member of the San Diego chapter, I urge everybody in the HD community to become familiar with the plan and provide comments. While the Board of Trustees and the HDSA professional staff in New York City perform key leadership functions, the chapters and volunteers are the lifeblood of the organization.

We are HDSA, and it’s up to us make our voices heard.

Below I present an outline of the plan as well as my own suggestions for improving it.

Plan introduction: balancing care and cure

The first eight pages of the 39-page document provide an overview of HDSA’s values, mission, and community.

As the document states, the organization’s last strategic review took place in 1998 – well before dramatic advances in both communications and science. Since then, scientists have come much closer to understanding HD. We now stand on the verge of revolutionary clinical trials.

It’s important to point out that the CHDI Foundation, Inc., the so-called “cure HD initiative,” which spent approximately $100 million in 2011 and has a far more narrow focus than HDSA, has emerged as the non-governmental sector leader in developing potential treatments (click here to read more).

HDSA’s current budget is approximately $8.5 million. According to the 2009-2010 annual report, 26 percent of the budget went to family services, 20 percent to fundraising, 20 percent to chapter development, 17 percent to education, ten percent to management and general expenses, and just seven percent for research.

Those amounts are a far cry from the early 2000s, when HDSA annually spent millions on research.

Vetter told me in an interview in May 2011 that HDSA will strive to increase its budget to as much as $20 million. For now, however, the proposed strategic plan aims for more modest annual increases of five percent, with a goal of raising $10.2 million in 2016.

Despite CHDI’s massive investment in research, the HDSA plan proposes a continued commitment to both “care” (services, education, and advocacy) and “cure” (research). As I discuss below, HDSA aims to launch a new research program, which would complement research done by CHDI and also the Hereditary Disease Foundation (HDF).

I agree that HDSA should continue to sponsor research, but I believe it should also invest more in other areas.

In the past, HDSA has primarily supported basic research, that is, research that leads to a deeper understanding of the disease but not necessarily to immediate application as a treatment or cure. CHDI now focuses on what is called the “treatment pipeline,” the search for ways to delay or halt the progression of HD using the knowledge of basic research created by others but also through its own projects.

Of course, in this fast-paced era of biotechnology, the line between basic and applied research has becoming increasingly blurred. Frequently, scientists can quickly turn new basic knowledge into a strategy for a treatment or cure. In this respect, the HDSA plan for continued research makes sense. CHDI and the HDF will continue to perform the bulk of the research, but HDSA-sponsored research will likely turn up new clues and perhaps even potential treatments.

The more brains we have working on treatments and a cure, the better our chances of success.

A community service organization

Crucially, the strategic plan recognizes the key part played by HDSA’s 21 Centers of Excellence in providing assistance to HD patients and their families and serving as a focus for patient research and clinical trials. The creation of the Centers has given greater visibility and some additional funding to local HD clinics around the country, practically all of them associated with universities. Annually the Centers each receive about $50,000 in support from HDSA.

“The Society will seek to enhance the Centers’ role in clinical research by creating linkages with the new research program,” the document states. “Imagine if a basic scientist who was used to testing hypotheses in mice could finally test a theory on human blood samples made possible by a Center of Excellence?”

The plan involves expanding “care” from “family” services to “community” services.

“HDSA is committed to offering programs that can have the broadest impact and affect the most lives,” the document states.

The meaning of expanded care

In my opinion, the shift in emphasis from “family” to “community” stands out as the most important aspect of the plan. In light of CHDI’s emergence, I believe that HDSA can best support the cause by focusing on services to HD families, raising awareness, and recruiting individuals for research studies and clinical trials.

Indeed, the second part of the plan (pages 9-13), which outlines the seven major goals of the strategy, begins with “Goal I: Build an HD Community-service organization.”

To achieve this goal, the document sets forth four “core strategies”: 1) expanding access to clinical care; 2) enhancing social services and support resources; 3) improving access to long-term care facilities skilled in HD; and 4) increasing access to counseling.

To implement these goals, the plan proposes a series of actions. I’d emphasize two: the strengthening of the Centers of Excellence and the “development of a regional network of social workers to augment the existing National and Field-based social workers.”

The staffs of the Centers and social workers regularly come into close contact with the patients and their families. They provide the vital services and first-hand information that families so desperately need in the fight against HD. And, as HDSA recognizes, the Centers stand in the best position to help implement clinical trials.

The next six goals support the idea of community service: support of HD research, removing barriers to quality care (legislative advocacy), communication, expansion of the volunteer base (click here to read my previous analysis of this question), operating in a fiscally sound manner, and fundraising.

Trying too hard to catch up on research?

Despite the emphasis on community service and the clear movement away from pitting care against cure, the document left me with the strong impression that the task force has thought more about questions of research and less about other organizational needs such as advocacy and volunteer recruitment.

While the task force established yearly goals for all seven of the major strategic goals, it included an appendix only for research – a three-page synopsis of an HDSA research planning meeting held in April 2011. In this section (pages 37-39), I could sense the renewed commitment of HDSA to make a difference in HD research.

There and elsewhere in the plan, the task force mentioned the need to hire a “medical-scientific director to oversee and coordinate research programs.” The director would help lead HDSA’s efforts to educate the community about the importance of clinical trials and “deepen our partnerships” with other organizations seeking treatments and a cure.

The plan seems solid, in part because it gives the medical-scientific director the task of education on clinical trials.

Furthermore, the document reveals that the national board aims to end a difficult situation of delinquent payments to researchers – a situation that practically brought the Coalition for the Cure research program to a halt. According to the 2009-2010 annual report, the seven percent of the budget that backed research amounted to just $370,000. In informal conversations, I have heard that HDSA spent practically nothing on research in 2011.

Fortunately, CHDI’s large investment in research has counterbalanced HDSA’s diminished role.

However, precisely because of CHDI’s huge role in research, grassroots volunteers might wonder why other areas of the strategic plan did not receive a more detailed plan of action, not to mention the possibility of hiring, when possible, additional specialized personnel in areas such as advocacy and volunteer recruitment.

Local needs

As I wrote previously, “I believe it’s implicit that the chapters and volunteers, as usual, will need to take the initiative locally” with respect to volunteer recruitment and other activities.

To cite just two examples of local need: HDSA should increase funding to Centers of Excellence for programming and staffing, and the all-volunteer chapters could also benefit greatly from increased clerical and other paid staff support.

As someone who came to HDSA through a support group, I would have liked to see a more detailed discussion of these groups’ importance.

I agree with the plan’s assertion that “personalized support, like financial aid or case management, for every family facing HD is not realistic for the Society given our budget.” Nevertheless, I definitely believe that, along with our families, HDSA should brainstorm on how to help relieve the tremendous and often financially crippling care burden of HD. One possibility frequently mentioned in HD Facebook discussions involves support for local, private assistance initiatives. HDSA could partner with these initiatives and help raise their profile.

As a disease community, we need to become more creative in these areas – including better information for families seeking specialized nursing home care for their loved ones.

Communications and advocacy

I believe that the plan overreaches by aiming to make HDSA the “premier communicator of HD information.”

The community obtains information from a wide variety of sources. Hundreds (if not thousands) of families rely on HD Facebook communities and other sources of HD news. So far, HDSA’s presence on Facebook is limited, although the strategic plan briefly mentions the need to expand the use of the social media for advocacy and fundraising. HDSA might also promote a communications network in which it can play a key coordinating role.

In conjunction, it could form a kind of “HD news service” in which volunteers could report on HD issues in their local communities and share news items and articles with the national organization.

While HDSA has made important strides in advocacy, I believe the organization should invest even more in this area and assure long-term continuity of specific programs and initiatives. In recent decades, the organization has too often started from scratch, leaving the volunteer base confused and making advocacy inefficient. The organization also should promote greater awareness of the history of HDSA as an entity founded by a great HD advocate – Marjorie Guthrie – and partly dedicated to the memory of another great advocate of humanity – her husband Woody Guthrie.

Optimism – if we participate

I am optimistic that HDSA can reach these many goals and inspire people to become active.

We need to keep in mind that HDSA has limited resources – but also that, ultimately, we grassroots activists, volunteers, support group members, chapter board members, relatives, friends, and supporters are the organization’s most important resource.

To its credit, the HDSA Strategic Planning Task Force has defined its plan as an “active, living document” to be “reviewed regularly to revisit timelines, push progress and help the Society evaluate opportunities.”

Let’s not pass up this unique opportunity to express our opinions and make a real difference in the future of HDSA.

***
In my previous article, I mentioned that the A Physician’s Guide to the Management of Huntington’s Disease was not available online. HDSA will put the guide online following the 2012 national convention, June 8-10, in Las Vegas.

Huntington’s disease in the news and entertainment media – Part I: Stigma and genetic testing

Despite its status as an orphan disease unknown to many, Huntington’s disease occasionally comes into focus in the mainstream news media and the entertainment industry.

HD’s biggest exposure came March 18, 2007, when the Sunday edition of The New York Times featured a long page-one story on 23-year-old Katie Moser, who had tested positive for this devastating, deadly brain disorder and was confronting her fate.

On September 15, 2011, HD entered the discussion again in a Dear Prudence column titled “Deadly Family Secret.” Emily Yoffe, the author of the advice column for the online newsmagazine Slate, responded to a young mother who had just learned that her newborn baby boy was at risk for HD. (Click here to read more.)

The writer, who signed her letter to Prudence “So Devastated,” recounted how, a week after the birth, she learned that her mother-in-law had HD. Thus the young mother’s untested husband has a 50-50 chance of inheriting the disease, and, if he indeed has the abnormal gene, the baby would face the same risk.

That letter once again highlighted how stigma, denial, and ignorance plague the HD community (click here to read more).

Some sound advice

Yoffe provided some excellent commentary and advice, though, as noted below, I found other aspects quite frustrating.

As an HD-positive person, support group member, and 2011 Person of the Year of the Huntington’s Disease Society of America (HDSA), I completely agree with Yoffe that the mother-in-law should have informed her son about his at-risk status, especially given the fact that her own mother had died of HD.

The young mother and her husband are now racing to educate themselves about the disease and its consequences – an anxiety-ridden situation they could have avoided, or at least planned for, had his mother revealed the family history of HD in a timely manner. They could have arranged for PGD, or preimplantation genetic diagnosis, to assure that their baby would be born without HD.

From my own extended family’s experience with HD and my observation of many others in my 13 years as an HD advocate, I believe that full disclosure is always the best policy.

Yoffe recommended that the couple tap into the resources provided by HDSA and its network of support groups and Centers of Excellence for Family Services and Research. She also advised that they consult a genetic counselor to discuss genetic testing for the husband, adding that the wife should inform an at-risk, pregnant cousin about her aunt’s diagnosis. With that knowledge, the cousin can test the fetus for HD.

A deliberate decision

Also, I was deeply relieved to read Yoffe’s advice to the young father that “there is no rush about making that choice” about his own genetic testing.

My own experience with testing supports this approach.

After learning of my mother’s diagnosis the day after Christmas 1995, I wanted to get tested immediately. But after speaking with my mother’s geneticist and becoming involved in the HDSA-San Diego support group, I learned that I should not rush into testing. Testing presented enormous risks involving job security, insurability, and my psychological health. Ultimately, I waited until 1999, when my wife became pregnant, to learn my fate. In 2000 our daughter tested negative for HD in the womb.

The omission of research

However, I disagree with other aspects of Yoffe’s response.

She omitted, or perhaps didn’t know, that a man often passes on a worse form of HD, sometimes causing a gene-positive child to develop juvenile Huntington’s disease. Thus the mother’s failure to inform “So Devastated” and her husband presents potentially even more devastating implications for their new family.

While Yoffe properly described HD as a “particularly cruel” condition, she failed to mention the huge strides made in research to combat the disease. That research provides immense hope for people such as “So Devastated” and her extended family (click here to read more).

A skewed view of testing

As a result of this omission, Yoffe presented a skewed view of genetic testing.

In referencing HDSA guidelines, she wrote that “there is almost never a reason to test a young person for the disease, which tends to strike in middle age.”

Despite the highly appropriate caution about not rushing into testing, genetic testing does play an increasingly important part in the solution to Huntington’s disease. Simply put, scientists, physicians, and drug companies need at-risk, gene-positive, and affected HD people to participate in research studies and clinical trials in order to understand the disease more fully and to test the safety and efficacy of potential drugs. (Click here to read more.)

Testing for HD directly benefits the effort to find treatments to make HD manageable like diabetes or perhaps even to bring about a cure.

By getting tested, at-risk people provide hope – for themselves and for the tens of thousands of people around the world affected by HD.

Treatments ‘on the horizon’

Although many people in the HD community, as well as journalists, still have not perceived this message, it has now existed in the public domain for a number of years.

A prominent example came in September 2005, when Dr. Martha Nance, the director of the HDSA Center of Excellence at the Hennepin County Medical Center in Minneapolis, responded to my own deep fears about HD by demonstrating in a Washington Post article that “treatments for neurodegeneration [brain diseases] are on the horizon.”

Similarly, as I have illustrated with my own experience, at-risk and gene-positive HD people have given testimony regarding the importance of research studies and clinical trials.

Testing no longer just a personal matter

Yoffe’s Dear Prudence column on HD effectively personalized how a “deadly family secret” can devastate successive generations. It reminds us of the urgent need to end the stigma associated with HD (and, by extension, with other neurological diseases).

Rightly so, Yoffe points out the great importance of sharing the truth about a genetic test with other family members and taking advantage of the information and services provided by HDSA.

However, I believe that HD and genetic testing are no longer just personal matters to be interpreted and confronted alone. They involve and impact the entire HD community – including the mutually beneficial, inextricable ties between the researchers and the patients (and potential patients like me and that letter-writer’s husband and son).

To defeat HD, we can never forget the big picture of our quest.

(In Part II, I will reflect on a recent episode about HD and suicide on the TV show Private Practice.)

The best Christmas gift of all

This week I received the best Christmas gift of all: a clean bill of health during my annual visit to the local Huntington’s disease clinic.

I tested positive for the HD gene in 1999, and my mother died of the disease in early 2006 at the age of 68. I don’t know exactly when her symptoms began, but, as I look back, it seems that classic early signs such as mood swings and depression began in her late 40s.

I turn 51 on December 31, and I’m getting closer to the point at which my mother started having chorea, or the trembling of the limbs, one of the major symptoms of Huntington’s.

In order to monitor my health and strategize on ways to avoid onset of the disease, each year I undergo an examination at the Huntington’s Disease Society of America’s Center of Excellence for Family Services and Research at the University of California, San Diego. On December 14, I went through an intensive, two-hour battery of cognitive testing at the center. This past Tuesday, December 21, I was examined by one of the center’s physicians.

He found no evidence of chorea, and he informed me that my 2010 cognitive results matched the 2009 tests.

So I remain stable!

Bonus time

I felt enormously relieved.

The visits are extremely stressful, because there are no treatments for the root causes of HD. Symptoms eventually appear in all gene-positive individuals.

Onset would mean that I would begin a steady decline towards death. My mother’s symptoms got steadily worse. During the 15 years (or more) of the disease, she lost the ability to walk, talk, think, and swallow. She was only a faint shadow of herself when she died in a nursing home.

So I realized once again that every extra moment of good health is a bonus.

A winning team

The doctor recommended that I maintain my routine.

Since 2004 I have taken the main supplements recommended by the Huntington’s Disease Drug Works (HDDW) program: trehalose, creatine, coenzyme Q-10, omega-3 fish oil pills, and blueberry concentrate pills. Although there is some evidence suggesting these substances could affect HD, at this point there’s no way to prove that they have actually helped me.

But, the doctor said, they might be helping me to remain stable.

HDDW used to cover the cost of the supplements but is no longer doing so. I will have to shell out two or three thousand dollars annually to pay for them. Because they’re not officially approved remedies, insurance won’t cover them.

Nevertheless, the doctor said the cost is justified.

I agree. There’s a saying I learned in following Brazilian soccer: you don’t mess with a winning team.

In my case, the team includes far more than the supplements: pills to avoid depression and anxiety, psychotherapy, exercise, dedication to my family, the nurturing of my faith and spirituality, and sharing my journey as an HD-positive person through this blog.

The need for hope

In writing this, I must admit that part of me feels enormously guilty.

So many others in the HD community already experience terrible symptoms. Young, at-risk people struggle with the news of their parents’ diagnoses and decisions about genetic testing, and newly tested individuals who are gene-positive suddenly fear a dark future.

Will my desire to celebrate a symptom-free Christmas and New Year’s Eve make others in the community feel even more frustrated with their helpless predicaments?

Probably not. People in our community are generally very understanding and sympathetic with a whole range of situations. But I feel so badly for others – and want even more badly for a cure to come soon.

We in the HD community we all need hope – especially at this time of year.

I may never know why in the year 2010 I did not have symptoms. In 2011 they very well could start.

But my lack of symptoms could very well serve as a piece of evidence in the mystery of HD and the search for treatments and a cure. That, after all, is a big reason why the results of my cognitive testing go to the researchers.

And I want to help others.

A gift of health and time

On the brighter side, my current state of stable health will permit me to continue the fight for greater awareness about Huntington’s disease and the quest to end it.

As I noted in my previous entry, on February 7, 2011, I will represent the HD community as I give the keynote speech before scores of scientists at the “Super Bowl” of Huntington’s research.

More than ever before, I’ll be putting myself in the public eye and calling fervently for a cure.

Thanks to this year’s best Christmas present of all, I can carry out that mission with a strong and clear voice.