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.

From a paralyzed genius, lessons of determination and caregiving for the Huntington’s community

In my fight to avoid the onset of Huntington’s disease, I have sought inspiration in model lifestyles, outlooks, and individuals.

One of my heroes is Stephen Hawking, the theoretical physicist who pioneered the science of black holes, Hawking radiation, the origins of the universe, and the quest for a “theory of everything,” an explanation of the ultimate forces and laws that govern the universe.

Hawking achieved all of this while surviving five decades with ALS, amyotrophic lateral sclerosis, known in the U.S. as Lou Gehrig’s disease and in Hawking’s native England as motor neuron disease. As is well known, ALS has completely paralyzed Hawking’s voluntary muscles, relegating him to existence in a motorized wheelchair with an on-board computer through which he speaks.

Hawking at the White House with President Barack Obama in 2009 (photo from www.hawking.org.uk)

When doctors diagnosed Hawking with ALS in his early 20s, they gave him two years to live. However, through sheer determination and with the support of his devoted wives and numerous friends and nurses, Hawking not only survived but achieved remarkable accomplishments. On January 8 he celebrated his 70th birthday.

Like millions around the globe, I am awed by Hawking’s brilliance, moved by his triumph over ALS, and cheered by his good humor and kindness.

I have just finished Stephen Hawking: An Unfettered Mind, a new biography by Kitty Ferguson.

It richly details Hawking’s extensive achievements in physics and his views of the origins of the universe, including the question of God. Reading about Hawking and his ideas, I feel the enormousness of the universe and, as he does with ALS, put the disease that claimed my mother, and that I face, in a healthy perspective.

An Unfettered Mind also portrays Hawking’s struggles with ALS, his utter dependence on caregivers for survival, and his and his first wife Jane’s fight to improve life for the disabled.

For HD activists, I believe that Hawking’s life offers valuable lessons to help strengthen our resolve to fight and demand better care for HD patients.

The ravages of ALS

Whereas HD is a fully genetic disease, only about ten percent of ALS cases are inherited. Researchers do not know the cause of the other 90 percent.

Like HD, ALS is debilitating and deadly. As Ferguson points out, ALS causes disintegration of the nerve cells in the spine and brain that regulate voluntary muscle activity. The muscles controlled by these nerve cells atrophy. Eventually every voluntary muscle in the body becomes compromised, making movement of any kind impossible. After diagnosis, most ALS patients live only a few years, dying from pneumonia or suffocation.

Patients experience no pain, and, unlike with HD, remain lucid to the very end. As Ferguson explains, patients in the final stage are prescribed morphine for panic and depression.

Hawking’s symptoms began as clumsiness during his third year as an undergraduate at the University of Oxford. Upon starting graduate studies at the University of Cambridge, he had difficulty tying his shoes, and his speech started becoming slurred.

Hawking experienced frequent fits of choking. In the summer of 1966 his fingers started to curl; writing by hand became almost impossible. A few years later he started using crutches. It took him 15 minutes just to climb the stairs at home. By 1971 he needed a wheelchair.

By the time Hawking became Cambridge’s Lucasian Professor of Mathematics – a chair also held by Isaac Newton – he “could no longer walk, write, feed himself, or raise his head if it tipped forward,” Ferguson writes of his condition in 1979. “His speech was slurred and almost unintelligible except to those few who knew him best.”

Hawking had several brushes with death. One occurred during a 1985 trip to Switzerland, where he became so ill that the doctors put him into an induced coma and on a life-support system. In order to save his life, Jane decided to have him undergo a tracheotomy, which was performed in Cambridge.

Hawking could no longer speak and could only communicate by spelling out words letter by letter; a helper would point to the letters on cards held out for him to see and select with a nod. Also, Hawking now needed 24-hour care from nurses.

Ferguson recounts how a computer expert in California enabled Hawking to communicate more rapidly by giving him a program the man had invented called “Equalizer.” It allowed Hawking to select words from a computer screen, and it also had a voice synthesizer – the famous Hawking voice known around the world. A student made Hawking a mouse-like tool that allowed him to operate the computer by squeezing a switch with his hand.

Because ALS continues to destroy his muscles, today Hawking can no longer use the mouse-like device. He now operates the computer by twitching a cheek muscle and thus activating a low-power infrared beam that prompts the computer.

“It is, of course, nothing short of miraculous that Hawking has been able to achieve everything he has, even that he’s still alive,” Ferguson concludes. “However, meeting him and encountering his intelligence and humor, you find yourself taking his unusual mode of communication and his obviously catastrophic physical problems no more seriously than he seems to himself. That is the way he wants it. He chooses ‘not to think about my condition, or regret the things it prevents me from doing, which are not that many.’ He expects others to adopt the same attitude.”

Although ALS has destroyed his body, Hawking plans to make further contributions to science. In a documentary produced several years ago, he declared through his voice synthesizer: “Hello. My name is Stephen Hawking: physicist, cosmologist and something of a dreamer. Although I cannot move, and I have to speak through a computer, in my mind I am free.”

Personal and institutional supports

In Ferguson’s account, Hawking has thrived so long only with the love and support of Jane and his three children with her. (ALS patients can still have sex.) Numerous professional colleagues, friends, the nurses, and other caregivers and assistants also provided Hawking with crucial support.

In the early years of the marriage, Jane cared for Hawking and coordinated the fulfillment of his needs. An intellectual in her own right, she postponed her graduate studies in literature, and she usually kept in the background as Hawking acquired accolades and fame. Ferguson reflects on how Jane chose this life path at a time when the feminist movement influenced many women to strike out independently of their husbands.

Hawking’s disease and success, as well as the presence of large number of caregivers in the home, made his marriage to Jane far from conventional. Although Ferguson does not discuss the Hawkings’ sex life during the period that they conceived their children, she does explore their ever more unusual and complex emotional and familial relationship as they lost physical intimacy. Both had affairs, and Hawking later married one of his caregivers, Elaine Mason. They divorced in 2006 amidst rumors of abuse by Elaine. At the time, Hawking refused to comment on the divorce. Ferguson indicates that no abuse took place. “The bottom line was ‘He loves Elaine,’” she concludes.

HD families also develop in highly complex ways. In addition to the debilitating symptoms, stigma, denial, and anger can lead both patients and caregivers to act aggressively, sometimes resulting in divorce or the splitting of extended families in disagreement about how to confront the disease.

However, I want to emphasize Jane’s decades-long support of her husband, and also how the family, friends, and colleagues rallied around Hawking in his battle against ALS.

The nursing staff played an especially important part. As Ferguson describes, the nurses made Hawking look nice by brushing his hair, polishing his glasses, and wiping his chin of the saliva that ran out of his mouth. They also spoon-fed him. Most importantly, they regularly cleared his throat with a “mini-vacuum cleaner” so that secretions did not build up in his lungs.

Institutional support was also crucial for both Hawking’s survival and scientific success. The British National Health Service would not pay for his 24-hour care, which the family naturally could not afford. The MacArthur Foundation, which funds academic research and other projects, came to the rescue with a grant to pay for the home care.

Ferguson points out that without such care Hawking would likely have languished in a nursing home.

Hawking’s fame and success have brought him almost endless privileges. Since 2000, he has flown frequently by private jet (paid for by others). In difficult situations, people and governments have made special accommodations for his disability.

Most disabled people can only dream of such special treatment.

The Hawkings’ advocacy

Nobody begrudged Hawking these wonderful advantages.

Recognizing the need to improve the plight of all disabled people, the Hawkings successfully pushed for greater institutional access for wheelchairs – a major struggle in the 1970s that is now often forgotten. “The Hawking image encouraged universities to set up dormitories equipped for students needing round-the-clock nurses in order to attend classes,” Ferguson writes.

Hawking firmly advocated that disabled children always be grouped with normal children of the same age.

Yearning for freedom for HD people

As Hawking’s mind remains free, I am fighting to keep my own mind free, along with thousands upon thousands of HD patients and gene-positive individuals.

In contemplating Hawking’s life, I fantasized about how wonderful it would have been for my mother to have had a device that allowed her to communicate with us from behind the horrible, impenetrable mask of Huntington’s disease.

At 52, I have reached my mother’s age of onset: each day I worry that Huntington’s will cut short my career as a college professor and writer and leave me unable to love and support my family as my daughter approaches adolescence and prepares to enter an expensive private school next fall.

Sadly for most HD people, Huntington’s destroys the area of the brain responsible for speech, thought, and memory.

Redoubling efforts for better care

The first effective treatments could arrive within the next five to ten years, but until then the HD community must focus on providing for – and demanding an improvement in – care for our stricken loved ones.

This will require us to redouble our efforts to change the nation’s outdated Social Security rules for HD people (click here to read more); provide Medicaid assistance without forcing couples to divorce and impoverish the sick individual to make him or her eligible; implement better standards of care as widely as possible; demand assistance for families caring for HD people in the home; and insist on better nursing home care. The lack of competent nursing home care remains one of the most intractable problems faced by HD families.

For now, this is our best hope for prolonging the lives of our loved ones and making their final years and months as comfortable as possible.

Perhaps HD people cannot have the advantages of a 24-hour team of expert nurses. But Hawking’s privileges point to a horizon of healthiness that humanity should aspire to for all disabled and ill people.

HD people have as much right as Hawking or anybody else to fair, decent, and up-to-date care.

In this fight, we can take a cue from Hawking.

“It is no use complaining about the public’s attitude about the disabled,” he declared at a speech at the University of Southern California in 1990. “It is up to disabled people to change people’s awareness in the same way that blacks and women have changed public perceptions.”

The Team Hope Walk: reinforcing the first line of defense against Huntington’s disease

In the fight against Huntington’s disease, hope begins at home.

That’s the message I took away from yesterday’s inaugural Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego) after my family’s team traversed the 3.1 mile route. It was the first time my wife, my eleven-year-old daughter, and I participated together in an HDSA event.

We walked to honor the memory of my mother, who succumbed to HD in 2006 at the age of 68, and my father, her “HD warrior” caregiver, who died with a broken heart in 2009.

Civic leaders Allan and Jane Rappoport, long-time supporters of HDSA-San Diego, joined our team. They are close friends and our daughter’s surrogate grandparents – an especially important relationship because her lone surviving grandparent lives in Brazil.

Below I’ve posted our team picture, another family milestone: it’s the first time I’m presenting a photo of my wife and daughter to the readers of this blog. I’m taking one more big step out of the “HD closet,” a long and emotionally trying process that began almost two years ago with my first public speeches about my family’s struggle with HD.


The Serbin Family "Beat HD" Team: Kenneth Serbin (left), Regina Serbin, Bianca Serbin, and Allan and Jane Rappoport (photo by E. J. Garner)

So often eroded by the fear, stigma, and denial that accompany HD, such togetherness at the starting line provides the love and strength that sustain families in the long, arduous journey with this fatal disorder.

The Team Hope Walk held special significance for me because I am gene-positive for Huntington’s. At 52, I have reached the age of my mother’s onset. Each moment without symptoms is a precious gift – and a beautiful reminder of how our daughter tested negative and can thrive as she approaches adolescence.

As I walked alongside my family and friends, I felt protected by my family and the Rappoports. All of us renewed our hopes that researchers would soon find effective therapies for HD.

Striking a balance between elite and grassroots events

In all, 34 teams and more than 200 walkers took part in the event.

In the 1990s and early 2000s HDSA focused on simple, family- and community-based events such as hoop-a-thons and walks. However, as the organization grew along with the demand for research dollars in the quest for therapies, its emphasis shifted towards elite fundraisers such as galas with expensive tickets and pricey auction items. In this respect, HDSA-San Diego excelled, bringing in several hundred thousand dollars some years with signature events such as the Celebration of Hope Gala and the Shoot to Cure HD.

For financial or health reasons, HD people and their families often couldn’t participate in the signature events.

Responding to grassroots accusations of aloofness and recognizing the need to draw families into the organization, HDSA now seeks to strike a better balance between big fundraisers and community-oriented events. (For background on HDSA issues, please click here. You can also learn more by listening to Melissa Biliardi’s March 27, 2012, interview with HDSA CEO Louise Vetter by clicking here.)

Since the inception of Team Hope in 2007, the walks have spread to 80 cities across the country. HDSA reports that these events have raised more than $3 million.

Bringing families under the umbrella

Yesterday’s San Diego walk raised nearly $30,000, well above the goal of $25,000. Presenting sponsor Vertex Pharmaceuticals donated $2,500, recruited a team of nearly 50 walkers, and staged a pre-event fundraiser at its San Diego facility. Elmcroft Senior Living also donated $2,500 and set up a large team. Elite Security contributed with an additional 48 walkers. A number of local businesses supported the event with gifts of raffle items, food, and supplies, and the Lawrence Family Jewish Community Center (JCC) provided tables, equipment, and other items.

Lundbeck, the title sponsor of the Team Hope Walks program, has provided a substantial educational assistance grant to HDSA at the national level.

Nan Pace, a JCC manager, served as event co-coordinator along with health researcher Misty Oto. Both women serve on the HDSA-San Diego board.

Above, San Diego Team Hope Walkers, and, below, walk co-coordinator Nan Pace (second from left) with friends (photos by Gene Veritas)


“The importance of this walk was to give Huntington’s disease families in San Diego an opportunity to express themselves not only visually but through their families, by contacting them and letting them know that there will be fundraising and also bringing awareness to a very important cause,” said Oto. “It was so surprising to see new families that we haven’t been in touch with create First Giving pages, fundraise, and participate. Now we have new families that are under the umbrella of HDSA because of this event.”

The dream of participation

“This is the very first time that San Diego has offered an event that all people of all abilities could participate in,” Oto added. “All of our events have been centered on marathons, bike rides, and races that were a little bit longer, and where someone with Huntington’s could not participate or someone who had a family member with Huntington’s felt that the fundraising goals were a little bit out of reach.”

Registrants paid just $25 to participate.

For HD-affected individuals who could not walk the course, HD activist Silvia Gonzalez provided a ride on her three-wheeled motorcycle.

Silvia Gonzalez gives HD patient Hank Hahnke a ride at Team Hope Walk (photo by Gene Veritas).

“That was such a huge thing, because not only did they get to participate in the event, but they got to live out the dream of riding on a motorcycle,” Oto pointed out.

Local HD families “know that they have a voice, that we are paying attention,” continued Oto, whose mother died of HD several years ago. Oto tested negative for HD but has a number of affected relatives.

HDSA has “struggled” with the need to strike a balance between research and families, Oto suggested. The Team Hope Walk “unified in one cause” three key aspects of its mission: research, fundraising, and awareness.

Team Hope Walk co-coordinator Misty Oto running the charity raffle (photo by Gene Veritas)

Preparing for the challenges ahead

The San Diego Team Hope Walk brought out the very large extended Huntington’s disease family of this metropolitan area: HD people, asymptomatic gene-positive individuals like me, gene-negative HD family members, other family members, friends, corporate and local business sponsors, and key players in the search for therapies such as Vertex and Lundbeck.

I believe that, with the proper planning and exposure, the Team Hope Walks can help inform and galvanize the HD community for a major challenge as researchers ramp up to clinical trials for potential therapies: recruitment of individuals for research studies and clinical trials.

Without such participation, scientists cannot test potential remedies for safety and efficacy, thus delaying or even preventing the arrival of treatments.

Ultimately, Team Hope involves families in the fight against HD. Families are the first line of defense – and the seed of hope.

A new, more holistic view of Huntington’s disease: the systems/P4 approach

When I learned in late 1995 that my mother suffered from Huntington’s disease, a disorder unknown to my family, my reaction went from perplexity to utter shock as I listened to the details: HD caused shaking and severe dementia, was fatal, and had no treatment or cure.

Over the next decade, as my mother lost the ability to walk, talk, eat, and care for herself, her doctors could do little to help.

With a 50-50 chance of inheriting HD, I felt desperate as I waited in limbo. In 1999, my positive test for HD multiplied my fears.

When my mother died in 2006, a treatment didn’t even appear remote.

Even today, the medicines prescribed for HD patients treat only symptoms, sometimes with serious side effects. They do not arrest the disease in any way.

The lack of therapies (a medically more appropriate word than “treatments”) devastates affected families, perhaps more than any other of the cruel realities of HD.

However, as I described in my previous two articles, leading HD researchers are planning for eight new clinical trials in just the next two years (click here and here to read more).

The vastly increased knowledge of HD’s causes and the very real possibility of effective therapies behoove us to think about HD in a radically new way. Instead of reacting with the traditional (and quite understandable) fear and pessimism, I believe we must now embrace hope and optimism.

Rather than anticipating the worst, we must expect the best, even if we cannot predict the timetable.

Shifting from ‘incurable’ to ‘treatable’

To turn the emotional tide and spur greater patient and family involvement in crucial research and clinical trials, the HD community must replace the phrase “HD is incurable” with “HD is treatable” or, perhaps more precisely, “HD will be effectively treatable.”

“For so long we’ve talked about HD as an incurable disease,” I told an audience of some 100 people at the southern California Huntington’s Disease Regional Education Day at the University of California, Irvine, on March 10, sponsored by the Huntington's Disease Society of America (HDSA), Lundbeck, and Remind. “That keeps people behind the mask, keeps them in the closet, keeps them in denial. But the fact that you have the trials coming on line means that this statement is no longer accurate. It’s no longer an incurable disease. I believe it’s a disease that’s going to be treated, and going to be treated successfully sometime in the next five to ten years.

“So going back to the old HDSA phrase of some years ago: let’s make this the last generation with HD. I believe it’s going to be the last generation with HD, or that has HD in the way we’ve known HD, because I think we’re going to be controlling and managing HD.”

You can see the entirety of my speech in the video below.



Solid reasons for hope

People have occasionally cautioned me against raising false hopes, warning that if a potential drug fails, some in the HD community might withdraw from involvement in research and clinical trials. Many remember how in the early 2000s some people placed great hope in LAX-101 (also known as Miraxion or ethyl-EPA), a fish-oil extract, only to experience a letdown after mainly ineffective clinical trial results.

The cold, hard fact is that 90 percent of all clinical trials do not produce an actual drug. It takes time for scientists and drug companies to develop, test, and fine-tune drugs.

Furthermore, scientists do not view those 90 percent as unsuccessful or “failures.” Rather, a trial that ends without a successful therapy simply indicates that researchers should make a correction in the path or choose a different one.

Therefore, we must not give up if a trial or therapy does not fulfill our personal expectations. Drug discovery requires the participation of the entire HD community. Only by working together can we assemble all of the pieces of the therapy puzzle.

I also think that we have solid reasons for hope.

Having followed HD research the past 15 years, I believe the current lineup of planned trials stands out as qualitatively far different from LAX-101 and other supplement-like substances in other trials or drugs originally designed for other conditions that didn’t prove effective in HD.

The new generation of potential drugs benefits from new biological discoveries (such as RNA interference), new drug-discovery technologies (such as high-throughput screening), and a much greater (though still far from complete) understanding of how HD damages the brain.

In addition, in the words of Dr. Robert Pacifici, the chief scientific officer of CHDI Management, Inc., the multi-million-dollar HD therapy initiative, the new HD drug candidates are “custom-crafted” for HD.

A visionary turns to HD research

The annual CHDI HD Therapeutics Conferences provide a panorama of the progress in HD research. I am preparing a report on the scientific findings of the seventh conference, held February 27-March 1 in Palm Springs, CA.

Here I want to reflect on one speaker, Dr. Lee Hood, whose scientific vision is beginning to influence the search for HD therapies.

An M.D., Ph.D., Dr. Hood worked with colleagues to invent four instruments important for the success of the Genome Project (as well as other research): the DNA sequencer and synthesizer and the protein sequencer and synthesizer. Dr. Hood helped to found 14 biotech companies, holds 30 patents, and stands among only ten people in the world to belong to all of three major American scientific organizations, the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. In 1987 he won the Lasker Basic Medical Research Award (the American equivalent of the Nobel Prize).

In 2000, Dr. Hood founded the Institute for Systems Biology (ISB). Located in Seattle, the non-profit ISB teams scientists and technologists from many disciplines to pioneer the future of research in biology, biotechnology, medicine, environmental science, and science education. Dr. Hood is the ISB president.

Dr. Lee Hood at the 7th Annual CHDI HD Therapeutics Conference (photo by Gene Veritas)

When he turned 70 in 2008, Dr. Hood stated that he aimed to achieve the “most ambitious things … in my career,” including the advancement of systems biology and advocating for the widespread adoption of “proactive P4 medicine” (predictive, preventive, personalized, and participatory).

Among other cutting-edge collaborative projects, ISB has pioneered proteomics, the study of the more than 23,000 proteins in the human body.

“What we’ve done is to democratize proteins – that is, make them accessible to all biologists – just as the Human Genome Project democratized genes and made them available to all biologists,” Dr. Hood told the audience at the HD Therapeutics Conference.

A new, even more exciting project aims to develop “global proteomic analysis” by digitizing all of the human peptides (the chemical building blocks of proteins), Dr. Hood added. Just as people can hone in on a geographic location using Google Earth, scientists will soon compare peptides in a digital catalogue, he said.

The next stage will involve studying proteomics and genomics together, he said.

The importance of systems biology

In his HD Therapeutics Conference presentation, “Systems Approaches to Neurodegenerative Diseases and the Emergence of Transforming Technologies,” Dr. Hood explained systems biology (SB) and how it can impact the search for HD therapies.

SB emerged because of two revolutions: Darwin’s work on evolution, which revealed the enormous complexity of biology and disease, and the late-20th-century explosion in digitized biological information.

“We need this thing called systems biology to de-convolute that complexity,” Dr. Hood stated.

In a nutshell, SB offers a holistic view of disease. In Dr. Hood’s words, the body is a hierarchical “network of networks” that interact – beginning with genes, extending to molecules, reaching the organs, rising up to the individual human, and ultimately including society and the physical environment.

In my own shorthand, I think of SB as the “big picture of disease.”

SB uses the power of computing to mine, integrate, and visualize very large and complex sets of biological information, Dr. Hood added.

He described the SB approach to disease as providing an “informational view of science” that seeks to “capture the dynamics of disease.”

In this approach, biology drives technology, which in turn drives analytical tools (computation).

“It’s this holy trinity of biology driving technology driving computation that’s really at the heart of systems biology,” Dr. Hood explained. “I realized this first in the context of developing the automated DNA sequencer.”

SB scientists seek to tackle a complex system like HD, build a model of the disease, test that model, and then “perturb” its system repeatedly to see the disease mechanism at work. From this experimentation, they draw conclusions about the disease and how to treat it.

Hunting for HD modifier genes

In collaboration with leading HD specialists, ISB has set out to identify modifier genes for HD. HD results from a mutated form of the huntingtin gene, but one or more modifier genes may affect the onset of the disease. This would help explain why onset occurs at different times in people with the exact same degree of mutation.

To conduct this research, ISB has resorted to the SB approach of gathering large amounts of genetic information.

“We’ve now analyzed more than 60 human genomes from families that have Huntington’s disease,” Dr. Hood told the HD Therapeutics Conference audience. “What we’ve found is these families place enormously interesting constraints on areas where you may find modifiers, but we don’t have sufficient data at this point to really identify candidates. What we’re excited about is integrating these data together with the GWAS (genome-wide association study) data that will be coming later in the year.”

SB and a better understanding of HD

Dr. Hood concluded that SB can assist a search for HD therapies in four other ways. First, it can bring “new insights” into how HD works.

Secondly, “we can make blood into a window for health and disease” by discovering and measuring markers of “drug toxicity as well as disease diagnostics.”

Third, in line with its holistic outlook, SB provides “new approaches to analyzing multi-organ responses.” So far, most HD research has focused on the brain. However, scientists know that the huntingtin gene is expressed in every cell in the body and affects muscle and fat.

Fourth, SB presents “new approaches to drug target discovery” that could speed the arrival of therapies.

Finally, Dr. Hood added, “the digitization of information is going to be absolutely fascinating,” allowing scientists ever greater access to what happens in HD patients and helping them to plan treatments.

You can watch the entirety of Dr. Hood’s presentation in the video below.



P4: predictive, preventive, personalized, participatory

SB is laying the basis for P4 medicine, which holds great relevance not just for HD, but all diseases and the promotion of wellness in a future global system of health.

“P4 medicine, the clinical face of systems medicine, has two major objectives: to quantize wellness and to demystify disease,” Dr. Hood and a co-author write in an article in the March 2012 issue of the journal New Biotechnology that he sent me shortly after the HD Therapeutics Conference. “Patients and consumers will be a major driver in the realization of P4 medicine through their participation in medically oriented social networks directed at improving their own healthcare.”

Several organizations have partnered with ISB to pioneer programs in P4. If it is implemented on a wide scale, Dr. Hood predicts that it will revolutionize our healthcare system. Costs will plummet, everybody will carry a health monitoring device, and diseases will be predicted and prevented long before onset as the result of tiny blood samples taken from a pin prick, the article states.

“P4 medicine will not be confined to clinics and hospitals,” the article continues. “It will be practiced in the home, as activated and networked consumers use new information, tools and resources such as wellness and navigation coaches and digital health information devices and systems to better manage their health.”

Care will be “tailored to the circumstances of each individual.”

An amazing transition

Systems biology and P4 medicine provide a vastly different picture of Huntington’s disease from the largely hopeless one painted for me and my family after my mother’s diagnosis in 1995.

And we felt so alone in the impersonal world of traditional medicine.

The fresh, fundamental SB/P4 approach has led to a deeper understanding of the work that lies ahead in the search for HD therapies.

CHDI has adopted the SB approach by hiring one of its key practitioners, Dr. Keith Elliston, to serve as its vice president of systems biology. Dr. Elliston also spoke at the HD Therapeutics Conference.

Dr. Keith Elliston (in cap) confers with scientists at the HD Therapeutics Conference (photo by Gene Veritas).

“I’m also very excited that CHDI has chosen to embrace systems biology and to make that a key tenet of its drug-discovery process,” Dr. Nathan Goodman, an ISB researcher and member of an HD-affected family, told the audience. “In essence, this makes CHDI the first systems-biology-driven therapeutics company, yet another in the long line of firsts that CHDI has accomplished. This is a very big step not just for the Huntington’s disease field, but for all of biology, all of life sciences, the entire industry of therapeutics. This is an amazing transition by CHDI.”

As SB and P4 could very likely represent the future of medicine, I’m betting they will also play a major role in removing HD as a threat to me, my family, and the tens of thousands of families around the world impacted by HD.

We in the HD community have fulfilled the first P: genetic testing allows us to predict our future.

We now must focus on the other Ps: preventing HD; receiving personalized diagnosis and treatment that will optimize our health; and attaining wellness and a long life as a result of having helped find effective treatments through proactive participation in HD research and clinical trials and the contribution of our biological information to a global data bank.

The first dose is hope: moving towards treatments for Huntington’s disease

With its incurable genetic attack on the brain, Huntington’s disease wreaks havoc on its victims and their families, leaving them helpless, bereft of hope. I felt powerless as I watched my own HD-stricken mother become a mere shadow of herself and then worried about my own onset after testing positive for HD in 1999.

However, we have reason for hope. After many years of quiet but steady progress, drug makers are beginning to harvest significant results in the quest for treatments.

Since my mother’s death in 2006, I have seen scientists move from cautious optimism to optimism and now to genuine optimism.

At the 7th Annual HD Therapeutics Conference last week in Palm Springs, CA, I observed how many of the world’s leading HD researchers are preparing for clinical trials of remedies that could prolong and improve the lives of patients – and prevent me from becoming symptomatic. Notably, this year’s conference included many pharmaceutical companies: Alnylam, Isis, Medtronic, Novartis, Pfizer, Sangamo BioSciences, and Vertex.

As I participated in the conference, I felt hope come alive for the HD community.

Scientists pushing forward

I witnessed hope in the scientists’ confident smiles, animated conversations, and enthusiastic handshakes – including that of Dr. Robert Pacifici, the chief scientific officer of CHDI Management, Inc., the multi-million-dollar HD treatment initiative and the organizer of the conference.

Dr. Robert Pacifici (left) and Gene Veritas

“There are now eight things with the potential to reach the clinic in a two-year time horizon and a bunch more behind that,” Dr. Pacifici told me in an interview.

I also encountered optimism in Dr. Jim Gusella, whose research team found the general location of the HD gene (the marker) in 1983 and, in 1993, cloned it, making possible a simple, 100-percent accurate genetic test for the disease.

In many ways, his historic work laid the foundation for today’s advances. His current work includes the search for modifier genes – genes that, in addition to the HD gene, might affect the onset of the disease.

But scientists require an engaged HD community. In an interview, Dr. Gusella told me that patient participation is “incredibly important” in the drive for treatments.

“You cannot study a human disease without studying the people who have the human disease,” he explained. “You can’t test a drug unless you have people to test it on to see whether it does anything. The more they can participate, the better, whether it’s just giving a blood sample or going in and having neurologic exams to look at progression of disease or participating in a clinical trial.”

And, Dr. Gusella added, the community must maintain hope.

Dr. Jim Gusella (left) and Gene Veritas

Lowering huntingtin

Above all, I saw hope personified in the conference’s two dozen presentations and nearly 100 posters – all of them focused on the goal of understanding HD more deeply and/or developing treatments.

As I strived to process the vast information of this highly compressed 72-hour event, I felt exhilarated at the prospects of being freed from the threat of HD.

I paid special attention to the sessions on “lowering huntingtin,” a variety of strategies for reducing the amount of defective protein in brain cells. These strategies seek to block HD at its genetic roots, thus ameliorating or preventing symptoms.

I’ve followed one of these initiatives, a collaboration between CHDI and Isis Pharmaceuticals, Inc., since early 2008 (click here to read more).

I was thrilled to watch Dr. Frank Bennett, the Isis senior vice president of research, present an update . This year or next, Isis likely will apply to the federal Food and Drug Administration for a Phase I clinical trial to test the safety of its “antisense” technology, a class of substances known as “oligonucleotides,” or “oligos,” which would interrupt the production of defective proteins.

Isis, CHDI, and academic collaborators such as the HD lab of Dr. Michael Hayden at the University of British Columbia achieved an important breakthrough by discovering a way to lower defective huntingtin proteins while allowing normal huntingtin to carry on its vital tasks in the brain cells.

Isis has demonstrated the feasibility and safety of lowering huntingtin in mice, rats, and non-human primates.

Significantly, the Isis oligos have helped alleviate symptoms in HD mice.

An excellent scenario

Sitting cross-legged on the floor in front of the podium, I snapped photos of Dr. Bennett’s slides and listened intently to each word.

It was like having a front-row seat at a grand theatrical production – but one that was about me and the hundreds of thousands of people around the world affected by HD as patients or gene-positive people awaiting onset.

Dr. Frank Bennett (right) and Gene Veritas (photo by Dr. Ed Wild)

We wait as the actors, these scientific heroes, unravel the plot towards effective treatments.

“CHDI like a dream – couldn’t have imagined a better scenario,” I wrote in my notes. “Incredible vision with gene silencing.”

(Later this year I plan to pay my fourth visit to the Isis labs in Carlsbad, CA, to prepare a detailed update on the project.)

Inspiring connections

As we depend on the scientists literally to save us from HD, they also depend on the HD community for inspiration.

In remarks to the audience, Dr. Ladislav Mrzljak, CHDI’s director of neuropharmacology, recalled my 2011 CHDI keynote speech. Dr. Mrzljak told me personally that my speech had inspired him as he assumed his new role at CHDI after eleven years at the pharmaceutical giant AstraZeneca.

After one speaker noted that a researcher at my alma mater, Yale, had received a CHDI grant, I asked Dr. Mrzljak for details. Not only did Dr. Mrzljak personally know the researcher; he himself had spent the 1990s at Yale studying with world-famous cognitive neuroscientist Patricia Goldman-Rakic.

Dr. Mrzljak presented evidence that a CHDI-designed compound (CHDI-246) produced positive effects as measured in brain samples taken from HD mice. Research on CHDI-246 continues.

Dr. Ladislav Mrzljak (photo by Gene Veritas)

In addition to scientific veterans, this year’s conference included many young poster presenters. I met Julie Harness, a Ph.D. student specializing in HD stem-cell research at the University of California, Irvine (UCI).

Using both normal and HD-affected embryonic stem cells derived from discarded blastocysts from couples who opted for pre-implantation genetic diagnosis, Harness seeks to understand the causes of HD and perhaps develop an approach to treatment, including drug discovery. (Click here for more on California’s HD stem-cell-research. In a future article I will explore UCI’s HD research in depth.)

Harness told me that she felt inspired to present a poster this year after seeing photos of posters from last year sent by another UCI graduate student who had attended the 2011 meeting. Perhaps I took those photos – because I have included poster photos in this blog and since 2010 have supplied CHDI with a CD containing photos of all posters.

Julie is also a reader of this blog.

Julie Harness and her poster on a stem-cell drug-discovery platform for HD (photo by Gene Veritas)

Coming down to the wire

Despite the positive outlook, participating in the conference also magnified my fears of onset. My mother’s symptoms apparently began in her late 40s. At 52, I count each day without the classic symptoms – chorea (shaking), cognitive loss, and mood disorders – as a bonus.

I wondered: will the clinical trials prove successful, and will the medicines come in time to save me? If I become ill, will they help me recover?

As I watched Dr. Sarah Tabrizi’s slides demonstrating significant changes in the brain before classic onset, my heart sank. She stated that these changes begin as early as 20 years before predicted onset.

I glanced over at Jeff Carroll, a recently minted Ph.D. who is emerging as a leader in HD research. His poster – a study of HD mice and cell metabolism that suggests another potential approach to treatment – won first prize. Dr. Carroll, 34, is also gene-positive for HD and, like me, places great hope in the Isis project. His research has contributed to that project.

Dr. Jeff Carroll ponders Dr. Bennett's Isis update (photo by Gene Veritas).

“We’re fried!” I thought to myself as I viewed images of the brain shrinking.

To my relief, Dr. Tabrizi pointed out that, despite significant changes in the brain, “premanifest” individuals maintain an almost normal level of cognitive abilities.

“Despite striking brain changes, premanifest HD gene carriers did not deteriorate significantly over 24 months in cognition or motor function tasks,” she said in reference to the TRACK-HD study that she headed. “I think that tells us that the brain is functionally plastic and is compensating. And the good news is that there may be a lot to rescue.”

“We gene positive are really coming down to the wire!” I wrote in my notes. “Can we hold on??? If I get sick, can I recover with meds? Evidence in mouse trials suggests: yes!”

The first dose

I shook many hands at the CHDI meeting – perhaps even the hands of those who will produce the first effective treatment to stop HD symptoms.

After the conference, we have all returned to the HD trenches.

The scientists must now turn hope into actual treatments.

I must continue my work as an advocate for the Huntington’s Disease Society of America (HDSA).

My task is to carry the message of hope of a treatment to everybody I encounter in the HD community, either in person or online.

Indeed, this must become the priority of HDSA and advocates everywhere.

In an HD treatment, the first dose is hope.

Gene Veritas and CHDI's newly launched logo. Dr. Simon Noble, CHDI’s director of scientific communications, explained to the audience that the new logo symbolizes CHDI as a “drug development organization” seeking “effective treatments” as its first goal. The tree represents the biology and chemistry involved in HD and HD research, clinical developments, neurons, biological pathways, and the hereditary nature of HD. The logo's muted color reflects the “somber nature” of CHDI’s mission. While the initials “CHDI” once referred to “cure Huntington’s disease initiative,” the foundation emphasizes that the initials no longer signify that phrase. "We can worry about curing down the line, however you want to define curing," Dr. Noble stated. (photo by Lev Blumenstein)

(In a future article I will examine the research progress reported at the CHDI conference.)

Top researcher: ‘Genuine optimism’ about treatments for Huntington’s disease

With several potential treatments heading for clinical trials, the head researcher of the so-called “cure Huntington’s initiative” feels “genuine optimism” about alleviating the devastating symptoms of this incurable, fatal brain disorder that also affects other areas of the body.

“People ask me all the time, ‘Are you optimistic?’” said Dr. Robert Pacifici, the chief scientific officer of CHDI Management, Inc., the virtual biotech firm dedicated exclusively to ending HD. “I am. I really am. I’m genuinely optimistic.”

CHDI Management is the research arm of the CHDI Foundation, Inc., the multi-million-dollar initiative backed by a group of anonymous donors.

Dr. Pacifici made his comments in an interview with me during CHDI’s 7th Annual HD Therapeutics Conference at the Parker Palm Springs hotel in Palm Springs, CA, February 27-March 1.

Representing both academia and drug companies, the approximately 200 scientists and observers at the conference were abuzz with the promising developments presented by their colleagues in the formal part of the program.

When he expresses optimism, Dr. Pacifici told me, “the HD community doesn’t let you get off easy. They say, ‘Why?”

He outlined three major reasons for his optimism.

First, CHDI and the HD research community have “a large number of shots on goal” in terms of potential treatments.

“There are now eight things with the potential to reach the clinic in a two-year time horizon and a bunch more behind that,” Dr. Pacifici said.

(Scientists do not predict the outcomeof trials nor the date at which an effective treatment will be found.)

Secondly, he stated that researchers will test each compound under study so as to obtain “an unambiguous result.” This will permit the researchers to quickly evaluate the results and, if necessary, adjust the compounds.

Third, Dr. Pacifici pointed out that the potential treatments are “custom-crafted” for Huntington’s disease.

Researchers know that potential drugs must to enter the brain, be taken for a long time, and not present serious negative side effects, he explained. By making the drugs HD-specific, the researchers can meet these challenges.

Future articles will explore the results of the conference and specific treatments in greater detail.

You can my watch the interview with Dr. Pacifici in the video below. Also visit www.hdbuzz.net.

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.