A time for hope: HDSA’s 50th anniversary, a record-setting gala, and the impending release of highly anticipated clinical trial results

This year, Pope Francis’ historic “Hidden No More” audience with the Huntington’s disease community has understandably overshadowed another milestone in the HD cause: the 50th anniversary of the Huntington’s Disease Society of America (HDSA).

However, on November 4 the spirit of HDSA, embodied in founder Marjorie Guthrie’s goal of a cure, helped fuel new hopes: the San Diego chapter’s sixteenth gala, recalling HDSA’s start in 1967 and honoring celebrated ESPN sportscaster Chris Berman, raised more than $250,000, a national record for chapters. It was the society’s most successful fundraising event of the last decade.

Also, for the first time, the gala attendees included top scientists from Ionis Pharmaceuticals, Inc., which, by January 2018, expects to release results of its highly anticipated Phase 1 gene-silencing clinical trial.

It was also the first time an HDSA chairman of the board attended: Chair Arik Johnson, Psy.D., the staff psychologist at the HDSA Center of Excellence at the University of California, Los Angeles, joined HDSA CEO Louise Vetter at the event.

It was a striking convergence of history, people, and research progress.

The gala was organized by HDSA-San Diego and the chapter’s former president, Bill Johnston. Johnston left a 38-year career as PR director for the San Diego Chargers football team, which moved to Los Angeles, to keep his HD-stricken wife Ramona at Edgemoor Hospital, an award-winning care facility in nearby Santee. Johnston now works as special advisor to Ron Fowler, the executive chairman and co-owner of the San Diego Padres baseball team and a long-time supporter of HDSA-San Diego.

“It was so rewarding to see the extended HD community having a wonderful evening and enjoying a series of heartfelt and humorous stories about Marjorie Guthrie, the Johnstons and the 2017 Guthrie Awardee, Chris Berman,” HDSA-San Diego President Beth Hoffman, Ph.D., said after the event. “Generosity was in the air, and we’re so grateful to everyone who dug deep to support HD families and to find a cure for HD.”

HDSA CEO Louise Vetter addressing the gala (photo by Derrick Tuskan)

Marjorie Guthrie’s vision for a cure

More than 300 people attended the gala, held at the Pendry San Diego Hotel, including members of the Padres organization, sports and local celebrities, drug company representatives, HD researchers and clinicians, and HD family members.

In her speech, Vetter described HD’s devastating symptoms, its impact on families, and the story of Guthrie’s founding of what would become HDSA after her husband, folk singer and social activist Woody Guthrie, died of HD in 1967. Guthrie began in a time before the Internet: she placed a classified ad in The New York Times seeking contact with other families affected by a disease mainly unknown, even to New York’s medical community.

“In three months, she had 35 families affected by Huntington’s disease that were meeting around her kitchen table and dreaming about developing a cure for HD,” Vetter said. “That’s how the Huntington’s Disease Society of America was born. And at 50 years, we mark the amazing vision that this woman had to really set a course for a community to come together and provide support for one another.”

Today HDSA provides education about HD, supports research, and advocates for better care for HD-affected individuals, Vetter added. It now has more than 40 Centers of Excellence (COE), which provide a variety of family services and involve the community in research studies and clinical trials.

In a pre-gala interview, board chair Johnson outlined some of the ways in which HDSA and COEs are assisting affected individuals and families with HD’s daunting psychological and behavioral symptoms. “We have a Telehealth program for people to call in and talk to a trained social worker or psychologist who has been educated in Huntington’s disease,” he said.

You can watch Vetter’s speech in the video below. Click here to watch my interview with Dr. Johnson.

At 50, HDSA striving for founder Marjorie Guthrie's goal of a cure from Gene Veritas on Vimeo.

‘A heart for people that need a voice’

After the audience watched an ESPN report on the Johnston family’s struggles and leadership of the cause, Johnston received a standing ovation as he approached the podium. Johnston’s daughter Hayley, who has not tested for the inheritable genetic defect that causes HD, appears in the video.

“If my wife were here, then it would make sense that you’re standing up,” Johnston told the audience, explaining that Ramona’s advanced symptoms caused her to miss the event for the first time. “My wife is my hero. I appreciate everybody being here tonight. Hayley said it in that video about this disease: people don’t really know what it is until you see it. I wish Ramona could be here. She would be here, if she could.”

Johnston noted that Berman and Fowler have been the “biggest” and “most consistent” contributors to his fundraising efforts. Fowler was honored at the 2013 San Diego gala.

Johnston recalled his friendship with Berman, begun in the 1980s when he started at the Chargers and Berman was at ESPN. Starting in the 1990s, around 6 a.m. every Sunday during football season, Johnston updated Berman on Chargers news for the sportscaster’s reports.

“We just talked football,” Johnston said. “And then when Ramona got diagnosed, I could not have that conversation without him asking first how was Ramona, how are the kids. Every year, at the end of the year, a check would show up in the mail, unannounced, unrequested, a donation. Our honoree has been a huge friend of our organization and the effort to find a cure, find a treatment, for this disease.”

Berman does more than write checks, Johnston added. Berman, he said, “shows to me a commitment and a caring and a heart for people that need a voice, and that’s what this disease needs. It needs people to talk about it, to learn about it. And that’s why we’re doing what we’re doing here tonight.”

Bill Johnston (left) and 2017 Guthrie Award Honoree Chris Berman (photo by Derrick Tuskan)

‘Advancing the ball’ for HDSA

In accepting the Guthrie Award, Berman praised Johnston’s commitment.

“Billy is as loyal as they come,” he said, referring to Johnston’s decision to stay in San Diego. “Is there anything more admirable than that?”

Berman recalled that, after his wife’s death in a car accident in May, Johnston flew to the East Coast for the funeral. Johnston and other “true friends” have helped him overcome his grief, he said.

“You realize that, when times are the toughest, your friends and people bonding together is the way we all can advance the ball, if you will, to use a football term. They’ve helped me do that. And that’s where we are with Bill, and Hayley, who’s here tonight, and the Johnston family and countless other families just like this family.”

You can watch Johnston’s and Berman’s remarks in the video below.

Chris Berman: 'Let's advance the ball to cure Huntington's disease' from Gene Veritas on Vimeo.

Baking the clinical trial cake

Earlier, I watched as Ionis scientists bid on silent auction items using a mobile phone app. I greeted several of the Ionis officials, including Frank Bennett, the senior vice president for research, who attended the gala for the first time.

Dr. Bennett has overseen the ten-year development of IONIS-HTT_Rx, a gene-silencing drug that aims to alleviate HD symptoms by reducing production of the huntingtin protein in brain cells. The drug entered a Phase 1 clinical trial in September 2015 in Canada, England, and Germany. The company expects results to become available in the next two months.

Currently, to protect against bias as clinical trial administrators analyze the results, Dr. Bennett and the Ionis HD team cannot access the data. That’s standard clinical trial protocol.

Recalling a metaphor used in formal interviews about IONIS-HTT_Rx, Dr. Bennett referred to the project as a “cake in the oven.” The team is awaiting the opening of the oven to learn the results.

If successful, IONIS-HTT_Rx would mark the first effective treatment – though not a cure – for a brain disease.

The Ionis Pharmaceuticals table: (clockwise from left) Chris Bragg, Stacy Raysin (Dr. Bennett's assistant), Eric Swayze, Ph.D., Carolyn Swayze, Lisa Lane, Roger Lane, M.D., Brad Smith, Anne Smith, Ph.D., Frank Bennett, Ph.D., and Paula Bennett (photo by Gene Veritas, aka Kenneth P. Serbin)

Close to treatments

Jody Corey-Bloom, M.D., Ph.D., the director of the COE at the University of California, San Diego, also attended with her husband Floyd Bloom, M.D., staff, and members of the HD community. So did representatives of Teva Pharmaceutical Industries, a major sponsor of HDSA galas and the manufacturer of AUSTEDO, a recently approved drug – developed in San Diego – that alleviates HD’s involuntary movements but does not slow progression of the disease.

On October 30, Dr. Corey-Bloom gave her annual Huntington’s disease research update at the HDSA-San Diego support group. Most of her talk focused on gene silencing and the Ionis trial.

She also spoke on her groundbreaking research on the presence of huntingtin protein in saliva – a potential marker of both disease onset and progression and also of medications’ impact. Saliva is easier and far safer to collect than blood and cerebrospinal fluid, which are also under study for markers. (Click here for a scientific presentation on this topic.)

“This is an incredibly exciting time for HD,” Dr. Corey-Bloom concluded. “I think really we’re on the edge of really discovering something here, and being able to treat this disease. If we can’t cure it, we can slow it down.”

To watch Dr. Corey-Bloom’s presentation, click here.

Dr. Jody Corey-Bloom's table: (clockwise from front) HD family member Linda Pohl, Pablo Garcia, Lily Garcia (Dr. Corey-Bloom's assistant), Steve Granger, Ph.D., chief scientific officer at Salimetrics, LLC, Beth Thomas, Ph.D., The Scripps Research Institute, Dr. Corey-Bloom, Floyd Bloom, M.D., and HD family member Margaret Schroeder (photo by Gene Veritas, aka Kenneth P. Serbin) 

A true celebration of hope

I’ve attended every San Diego gala but one. As always, it was simultaneously exhilarating and emotionally draining.

I was thrilled to see the especially large group of scientists, researchers, and clinical workers. I was able to introduce several of these mutual contacts to each other. I also enjoyed listening to Berman talk about his career as a broadcaster, one of the highlights of the evening (click here to watch an excerpt).

When I greeted Johnston, I told him that my recent, annual neurological checkup showed no signs of HD. I’m 57; my HD-stricken mother’s symptoms started in her late 40s.

However, seeing “HD brothers and sisters” like Tim Schroeder and Sharon Shaffer, both deeply affected by the disease, reminded me of my likely future unless a treatment is found soon.

Yet this gala lived up to its name: a celebration of hope. My heart jumped as I realized it would set a fundraising record.

I’m hoping it will jump even more when the Ionis Phase 1 results come out.

Above, from left to right, Fran Walker, daughter Sharon Shaffer (seated), Taylor Shaffer, Renato, Shaffer, and Alexa Shaffer (photo by Gene Veritas, aka Kenneth P. Serbin). Below, Gene Veritas with HDSA-San Diego supporter Mary Wisco (photo by Bob Walker).

(Disclosure: I hold a symbolic amount of Ionis shares.) 

(Scroll down for other photo highlights.)

Chris Berman (left) and Ron Fowler, executive chairman and co-owner of the San Diego Padres (photo by Derrick Tuskan)

HDSA-San Diego president Beth Hoffman, Ph.D., (left) and Beth A. Thomas, Ph.D., The Scripps Research Institute (photo by Gene Veritas, aka Kenneth P. Serbin)

Mike and Jan Neil, HDSA-San Diego supporters (photo by Gene Veritas)

Nina Detrow (left), KGTV news anchor Kimberly Hunt, and Lori Ello (photo by Gene Veritas)

Bill and Hayley Johnston (left) with Liya Sharif and Pete Lancia of Qualcomm (photo by Gene Veritas)

The HDSA San Diego Center of Excellence/UC San Diego/Teva table: clockwise, starting in the foreground, Ameera Haque (UCSD research assistant), Gayle Paddison (Teva clinical nurse educator), Mr. Paddison, Amy Rahilly, Jeff Rahilly (Teva), Aeri Kim (UCSD research assistant), Chase Snell (UCSD research coordinator), Sungmee Park (UCSD research coordinator), Ayesha Haque (UCSD research assistant), and Rina Patel (UCSD research assistant) (photo by Gene Veritas)

HDSA-San Diego board member Paul June (middle) with supporters Amy and Cam Stephens (photo by Gene Veritas)

Scott Yoffe and HDSA-San Diego board member Nan Pace (photo by Gene Veritas)

HD family member Doug Schulte (photo by Gene Veritas)

Former HDSA-San Diego president George Essig (standing) toasts with friends (photo by Derrick Tuskan).

The wholehearted embrace: my first HDSA convention

For the first time since learning in 1995 that I was at risk for Huntington’s disease, I participated in the annual convention of the Huntington’s Disease Society of America (HDSA).

Despite my heavy involvement in HDSA-SanDiego, I hadn’t previously attended a national convention, even when the event took place in my home city, because of annual research trips to Brazil, my focus as a historian.

Last year I strongly wished to attend the June convention in Minneapolis, where I was named the 2011 HDSA Person of the Year, only to cancel the trip at the last minute after falling ill. I was crestfallen.

This year I finally made it (!), driving with others from San Diego to Las Vegas for the 27^th Annual Convention at the Red Rock Resort (June 8-10).

Though I flew back to San Diego the evening of the first day in order to watch my 11-year-old daughter sing in public for the first time and therefore missed the rest of the event, the trip meant a lot. I took my biggest step yet out of the “HD closet,” took stock of my long years of struggle, and made important new connections for the future.

Reflecting on HD’s tough reality

The convention atmosphere put me in a deeply reflective mood. After meeting Jenny Rogers of the host Las Vegas affiliate of HDSA, which operated an information table in the registration area during the day before the official opening, I returned in the evening, when nobody was around, to learn about her family’s struggles with HD, as told in pictures, letters, and a newspaper article attached to a poster.

I was profoundly shocked to read that Jenny’s mother had committed suicide in 2000 after Huntington’s had begun to rob her of her physical and cognitive capabilities. A teenager at the time, Jenny discovered her mother’s body lying on the floor in the bedroom of her home.

“I’ll be an angel watching over you,” wrote Jenny’s mother in her suicide note. “I did the best I could, but I just didn’t have any strength to cope with life anymore.”

Once again, a Huntington’s story cast a pall of sadness over me. I pondered how this disease relentlessly assaults families and destroys dreams.

Like me, Jenny is gene-positive for HD. She faces the onset of symptoms in the next couple decades, the prime of life. (Learn more about Jenny’s story by clicking here.)

I returned to my room, turned off the lights, and gazed at the night skyline of the Las Vegas Strip. As I admired its magnificence, I recalled the shortness and fragility of life – a reality intensified a thousand times in the HD community.

An upbeat opening

For me, the morning was more upbeat.

During the opening ceremony, Jenny welcomed the convention-goers assembled in the main hall. HDSA Chairman of the Board Don Barr addressed the audience. Nora Guthrie, the daughter of HD-stricken folk singer Woody Guthrie and HDSA founder Marjorie Guthrie, greeted the convention via a recorded video, in which she reminded us that this year marks the 100^th anniversary of Woody’s birth.

Also via a recording, Social Security Administration (SSA) Commissioner Michael Astrue addressed the audience about the HD community’s important victory, in the form of the SSA’s announcement in April that juvenile HD benefits applications would be fast-tracked starting in August (click here to read more).

HDSA CEO Louise Vetter presented a measuredly optimistic “State of the Society” address, in which she outlined the organization’s recently unveiled five-year strategic plan.

The meaning of HDSA

At the end of the ceremony, I joined HD advocates Ted Krull and Shana Martin on a panel titled “We Are HDSA.”

Ted recalled the life of his deceased daughter Emily, whose battle against juvenile HD inspired Ted and his wife Carla to push for passage of The Huntington’s Disease Parity Act, a pending bill in Congress that would more quickly bring Social Security and Medicare benefits to affected individuals.

Emily Krull (family photo)

Shana, a model, lumberjack athlete, and fitness competitor, told the story of her mother’s ongoing struggle against HD, her involvement in HDSA’s National Youth Alliance, and the use of her athletic prowess to raise awareness of HD.

To the audience of several hundred people – the largest HD crowd to which I’ve spoken – I told my story, revealing the true identity of Gene Veritas. My family was the reason for my involvement with HDSA, I said. And while my mother died of HD and I tested positive for the genetic mutation, my daughter, our gene-negative “miracle baby,” thrives as she prepares to enter the seventh grade in the fall.

She and I are both “addicted to writing,” I said. For a class project, and using my at-risk status as an example, my daughter recently sent letters to 35 U.S. Senators urging them to reverse their opposition to health care reform. Using my writing talent, I said, I’ve produced the HDSA-San Diego newsletter and more than 130 articles for this blog.

However, not one of my newsletter or blog articles has carried my real name as the author, I pointed out.

Now, more than ever, I’m taking off the mask of Gene Veritas and exiting the terrible and lonely HD closet – a closet in which so many families remain hidden because of fear of genetic discrimination.

Explaining that HDSA has provided me with the necessary support to carry out my struggle against HD, I highlighted the organization’s meaning for me by summing up its mission in words beginning with the four letters of its acronym: Hope (through its support services), Determination (to find treatments), Solidarity (togetherness as the key to beating the disease), and Awareness (about the need for public advocacy and of the HD community’s key role in the larger battle against neurodegenerative disorders that will afflict millions in the coming decades).

You can watch a recording of our three presentations by clicking here.

Ted Krull (left), Shana Martin, and Gene Veritas

New allies

After the opening ceremony, I sought to meet online friends in person for the first time, as well as connect with new allies in the movement.

I spoke to one young brave man, a regular reader of this blog, who bears a double hardship: years ago a traffic accident left him paralyzed from the waist down, and later he tested positive for HD. “We are brothers,” he told me after an intense conversation about many aspects of HD.

Meeting him helped me put my own situation in perspective: compared to some, my burden is light.

I ran into another online acquaintance with an HD-stricken wife and daughter whose symptoms began much earlier than her mother’s.

In the exhibit hall, I signed and photographed the banner filled with messages of thanks to Congressman Bob Filner of San Diego, the original sponsor of the HD Parity Act.

Volunteers hold "thank you" banner to be presented to Representative Bob Filner (photo by Gene Veritas).

Three-year-old Kayden Bujnowski scrawled her own message on the banner, then posed for me.

When I heard that Kayden’s mother Heather Lewis has HD, and that Kayden has a 50-50 chance of inheriting the mutation, I gasped and thought, “No, not another family!”

To contribute further to awareness, Heather and her husband Jason Bujnowski graciously allowed me to take a family photo.

Above, Kayden Bujnowski blows a kiss from the HD Parity Act banner. Below, Kayden with mom Heather Lewis and dad Jason Bujnowski.  (Photos by Gene Veritas)

A new HD sister

After my morning presentation, I had only a few hours before catching the shuttle to the airport. I felt bad explaining that I needed to leave early, but everybody immediately supported my decision when they heard about my daughter’s performance.

After spending much of the past month on the road (North Carolina, Ohio, New York City, and New Haven) advocating for HD, I did not want the fight against HD to rob me of this precious moment. At 52, now in the range of years when my mother’s symptoms hit, I must strike a healthy balance between advocacy and the rest of my life.

I decided to spend my last half hour at the convention sitting next to a woman with HD. She was about my age. She had pronounced chorea (the dance-like movements caused by HD), and, like so many other HD people, was emaciated.

I struck up a conversation with her and the HD social worker sitting next to her. To my relief, the HD woman could take part in the dialogue – an ability my mother lost almost completely as the disease progressed.

The woman’s husband appeared and sat with us.

The three of us talked about HD.

The woman asked for her pills, about a half dozen, which she took one by one with drinks of water from a sipping cup. She dropped one of the pills, but her husband rescued it from the floor.

To my great satisfaction, the woman told me that she read my blog. She thanked me for it.

“Keep writing,” she said.

“Keep reading,” I responded.

It was time to catch the shuttle.

Summoning up her strength, my new sister rose to hug me.

We embraced for a few moments. Our bodies seemed to fuse into one sensation of fear, but also of love and hope.

I had never embraced an HD person so wholeheartedly – perhaps not even my own mother.

Back in San Diego, I realized that this was a symbol: I also had wholeheartedly embraced my role in the HD cause in a new way.

Making sense of Huntington’s organizations, and a call for unity

HDSA, HDF, HDDW, CHDI: a mini alphabet soup of Huntington’s disease organizations serves the families afflicted by this devastating brain disease, leaving at least some people confused about each entity’s purpose.

While these organizations often collaborate admirably in their common goal of treatments and a cure, they sometimes conflict, competing for attention and resources and/or disagreeing about the best approach to stopping HD.

Sometimes that conflict occurs within an organization, for example, between the grassroots and the leadership.

These patterns are only human, and they apply even to enterprises striving for the utmost in objectivity, including the doctors and scientists seeking to unravel the mysteries of HD.

My experience

I’ve observed and participated in conflicts ever since I formally joined the HD movement in April 1998. In the San Diego chapter, we tried our best to put the cause ahead of politics. In cases of conflict with the national office, we acted according to what we saw as the best interests of our local HD community.

Lately I’ve read complaints in HD Facebook discussion groups about, in the words of one veteran of the HD movement, an “obvious disconnect between the HD community and the HDSA at a national level as voiced in numerous posts online.”

I aim here not to judge or analyze any particular conflict, but, instead, to provide a brief outline of the specific goals of HDSA – the largest and best-established group – and the other HD organizations.

Gaining perspective

I want to help clear up the confusion of the alphabet soup – and suggest how the apparent "disconnect" might be repaired.

I believe that we act most effectively, and harmoniously, when equipped with accurate information and historical perspective. Providing perspective is part of my job as a professional historian. We cannot plan the future without understanding the past.

I’ve studied carefully and have had contact with all four organizations: as an HDSA chapter board member and 2011 HDSA Person of the Year; as a regular correspondent with one of the HDF board members and a student of its activities; as a participant in an HDDW observational trial and collaborator of the organization’s founder; and as the keynote speaker at the 2011 CHDI research conference.

I recognize the powerful influence of my own perspective on this article: as an HD-positive person whose mom died of the disease in 2006, I desperately await a treatment that will save me from losing my mobility and my mind. I expect conflict and even welcome certain kinds of it; opposing ideas often meld into a better one.

But conflict should not lead us to splinter off into so many different directions that we dissipate our energies and lose momentum towards our ultimate goal. I believe that our community must stay focused on care and ultimately the cure. If not, the HD-affected and HD-positive are doomed.

HDSA

HDSA (the Huntington’s Disease Society of America) was founded in 1967 by Marjorie Guthrie, the widow of folk singer and political activist Woody Guthrie, the most famous American to die of HD.

The very first organization to support HD families, HDSA began as a series of support groups and remains the only organization to offer such help. In the Guthrie tradition, HDSA advocated for HD families and, in the 1970s, helped push Congress to set up a commission to study how to eradicate HD.

After the discovery of the huntingtin gene in 1993 created the possibility of effectively treating HD, HDSA emphasized greater fundraising for scientific research. In 1997 it created the “Coalition for the Cure,” which funded HD research projects to the tune of millions of dollars. Scientists competed for grants based on their qualifications and peer review, that is, a careful examination of their proposals by other scientists. Between December of 2005 and January of 2005, HDSA’s “Generation 2000” program brought in $23 million for the Coalition (click here to read more).

Initially, some in the HD community became angry that HDSA had deemphasized its primary mission of supporting care for HD patients and their families. Partly in response to this, starting in the late 1990s HDSA created Centers of Excellence for Family Services and Research, which gave greater visibility and some additional funding to local HD clinics around the country, practically all of them associated with universities.

With the founding of the CHDI Foundation, Inc., in 2003 (see below), HDSA’s role in research diminished substantially. Although it continues to fund some important research, it focuses largely on chapter development, education, family services, fundraising, and advocacy.

HDSA, headquartered in New York City, has a number of development field officers and assistants in various regions of the country. But the organization’s lifeblood is the thousands of individuals active in some 40 chapters and affiliates and 21 Centers of Excellence: affected family members, support group members, volunteers, physicians, nurses, social workers, and others.

In late June, a record total – more than 1,000 people – took part in the 26th annual HDSA convention in Minneapolis, an indication of the organization’s grassroots strength.

At the same time, however, some in the community have criticized the national office in what they see as its inability, or unwillingness, to back local projects or provide assistance to financially strapped families.

Some have also questioned why such a small portion of the HDSA budget goes to research – just seven percent (about $370,000), according to the 2009-2010 annual report. That is a far cry from the early 2000s. Research is the smallest part of the budget, with 26 percent going to family services, 20 percent to fundraising, 20 percent to chapter development, 17 percent to education, and ten percent to “management and general.”

As illustrated below, the CHDI Foundation now provides more research dollars in one year than HDSA did in a decade.

In an interview with me in May, HDSA CEO Louise Vetter acknowledged that the organization’s national board recognizes the need for local assistance but, with a current annual budget of only $8.5 million, lacks the wherewithal to help more than it currently does (click here to read more). She added that HDSA is striving to increase the budget to as much as $20 million. A bigger budget would allow HDSA to increase support for both research and local projects.

Louise Vetter (photo by Gene Veritas)

Despite these frictions, HDSA remains the “go-to” organization for HD families.

In conjunction with the Centers of Excellence, HDSA is the only organization that provides the large array of services essential to the HD community: clinical care, genetic counseling, genetic testing (with an established protocol), support groups, educational and other chapter events, chapter fundraisers, public and legislative advocacy, caregiver assistance, medical publications (including the important Physician’s Guide to the Management of Huntington’s Disease), and the administration of highly crucial clinical trials and observational studies.

(No HD organization provides nursing home care or any published guide on how to find a good facility. Families often must choose a facility for their loved ones on their own.)

HDF

Founded by psychoanalyst Milton Wexler, the HDF (Hereditary Disease Foundation) began in 1968 as the Los Angeles chapter of HDSA. In 1974, Wexler broke off from HDSA to formally start the HDF.

The HDF arose out of the very first major conflict in the HD movement. Wexler, the husband of an HD-affected woman and father of two at-risk daughters, started his own foundation because he believed private research funding, and not just the government support sought by Marjorie Guthrie, should play a part in the quest to find treatments. His and Marjorie’s strong personalities also clashed.

HDF established offices at the Wexler family base in Los Angeles and also in New York. As a scientific foundation, it had no chapters, support groups, or clinics. It had one goal: to promote research towards treatments and a cure. Towards that end, Milton Wexler held seminars with some of the leading scientists of the late twentieth century.

Like the HDSA, the HDF issues grants on a competitive basis. Its single focus allowed it to put a high level of funding in research. In 1990, for example, it spent almost $600,000 on research – nearly double the amount of HDSA.

The HDF spearheaded the search for the all-important gene that indicates HD. Wexler’s daughter Nancy, a Ph.D. in clinical psychology, spent years collecting thousands of blood samples from the world’s largest HD extended family in Venezuela.

This research led to the discovery, in 1983, of a genetic marker for the HD gene, thus permitting the development of indirect genetic tests indicating a person’s probability of carrying the defective huntingtin gene. In 1993 the actual location of the gene was discovered, leading to a 100-percent accurate genetic test. (Click here to read more about Nancy Wexler.)

To a large degree, Nancy Wexler and the HDF’s work laid the basis for a revolution in HD research over the past two decades. In the 1990s and early 2000s, HDF began efforts to discover specific treatments.

Nancy Wexler (left), the late Milton Wexler, and Alice Wexler (photo by Mariana Cook)

Toward that end, in 1997 the HDF foundation received a “substantial anonymous gift” to set up an internal program known as “The Cure Huntington’s Disease Initiative” (CHDI). (This first CHDI should not be confused with the current CHDI Foundation.) According to the HDF summer 2002 newsletter, “the CHDI approaches HD as a problem in practical drug discovery.” It supported research projects for “studying potential new drugs, developing screening methods for quickly assessing the effectiveness of new drugs, and studying the mechanism of disease and potential drug targets” (click here to read more).

In 2003, with CHDI picking up steam, the HDF put more than $20 million into research (click here to read more).

But, like HDSA, the HDF has seen better times in terms of its finances. According to the winter 2010 HDF newsletter, the foundation last year awarded $800,000 in grants and contracts (click here to read more) – less, in real terms, than its 1990 amount. Again, the presence of the CHDI Foundation, discussed below, partly explains this decline.

Despite their initial differences and later frictions, HDSA and HDF maintained a reasonable working relationship.

Today HDF remains on the cutting edge of HD research, attracting great attention from the scientific world at its biennial meetings.

Nancy’s older sister Alice chronicled the early story of the HDF and her family’s struggle against the disease in the acclaimed 1995 book Mapping Fate, from which I have drawn some of the information for this vignette of the HDF. In 2008, she published another important book, The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, which helps to explain why HD carries such a terrible stigma.

Everybody in the HD movement should read Alice Wexler's books.

HDDW

HDDW (Huntington’s Disease Drug Works) started in 2003 under the leadership of Dr. LaVonne Goodman, a physician to HD families and the president of the HDSA Northwest chapter, and her husband Dr. Nathan Goodman, one of the participants in the historic Genome Project. HDDW is based in Seattle. It has no chapters, support groups, or family services.

While HDSA and HDF sought a long-term solution to HD, the Goodmans instituted a “treatment now” program using safe supplements and medications approved by the federal Food and Drug Administration for other conditions and shown to be effective in HD mice.

For several years, Dr. Goodman monitored a small group of HD patients, but without conclusive results.

Dr. LaVonne Goodman (photo by Gene Veritas)

I have taken the supplements for about six years and, although there is no scientific proof that they have helped me, I remain free of the classic symptoms of HD (click here to read more about my strategies for avoiding HD).

Because Dr. Goodman questioned the conventional wisdom of HDSA and many scientists and doctors, she stirred controversy. She even had to resign as a chapter president.

Several years later, however, Dr. Goodman resumed her collaboration with HDSA and has been a featured speaker at the national convention. She chairs the Northwest chapter’s efforts in family services and education. She has also collaborated with CHDI and the Huntington’s Study Group (HSG), an international coalition of physicians and researchers conducting HD research.

The mother of two at-risk children from a previous marriage, Dr. Goodman today attends to several dozen HD patients in the Northwest.

She now focuses on preparing the community for clinical trials, absolutely essential for testing potential drugs for safety and efficacy. On July 30, she co-organized the Inaugural Clinical Research Symposium in Seattle with support from the Northwest chapter and the pharmaceutical firm Lundbeck.

Dr. Goodman is also working to establish HD “standard of care guidelines” to supplement HDSA’s Physician’s Guide by taking into account care strategies utilized by HD experts around the world. According to Dr. Goodman, the new guidelines “can improve the quality of care delivered by busy doctors who have limited HD experience and need time-efficient guides” (click here to read more).

CHDI

The CHDI Foundation, Inc., grew out of the HDF’s CHDI program. It is backed by the same anonymous donors.

In the HD community, the CHDI Foundation is probably the least known of the organizations, despite its enormous impact since arriving on the scene in 2003.

Like the HDF, the CHDI Foundation focuses on one goal: finding treatments and a cure for HD. It has offices in three cities, but no support groups, chapters, or family services. The foundation’s goals are implemented by CHDI Management, Inc., presided over by Robi Blumenstein, an attorney who built a successful career in merchant banking.

In addition to the HDF, the anonymous donors had previously provided support to the HDSA. In each of the past several years the CHDI Foundation has donated $1.2 million to HDSA.

The donors, however, wanted to try a different research approach from those of HDSA and the HDF and decided to start a new organization.

With the establishment of the foundation and its management firm, the acronym “CHDI” no longer had any official meaning, although in this blog I have continually referred to its original meaning, the “cure Huntington’s disease initiative.”

In the simplest of terms, CHDI Management is a virtual biotech company. I have visited all three of its offices: the administrative headquarters in Manhattan (which also has two researchers) and the research offices in Princeton, NJ, and Los Angeles. CHDI Management has no labs – not even a microscope.

Its impressive staff of “drug hunters” – many of them recruited from the highly competitive pharmaceutical industry – conceive, fund, and manage specific research projects carried out in labs at pharmaceutical companies and universities. In all, CHDI Management scientists work with more than 600 researchers.

CHDI Management scientists travel frequently to consult with the scientists implementing the projects. For several years, I have tracked one of these projects at Isis Pharmaceuticals, Inc., in nearby Carlsbad, CA. With a revolutionary approach, Isis and CHDI Management aim to attack HD at its genetic cause. (Click here to read more.)

At the Princeton office, the scientists are helping design effective clinical trials and ways to measure the effectiveness of the proposed drugs.

Like HDSA and HDF, CHDI Management holds regular conferences. Although some might disagree, I described the CHDI Management meeting as the “Super Bowl” of HD research because of its international reach and intense focus on practical steps towards a victory in the fight against HD.

Scientists at the 2011 CHDI Foundation's research conference (photo by Gene Veritas)

CHDI Management’s annual budget varies according to the needs of the researchers and the projects. In the current year, it plans to spend approximately $100 million. In the fight against HD, it is the largest private initiative ever.

CHDI Management raised HD’s profile in the world of science and put drug discovery into overdrive. Pharmaceutical giants such as Pfizer began to pay greater attention to HD. Whereas no specific treatment strategy existed after the discovery of the gene in 1993, the HD research community has now identified an astounding 700-plus potential targets (ideas for drugs) to attack HD. Much of that progress has resulted from CHDI Management’s massive commitment.

Crucially, CHDI Management has the resources to transform the most promising of those targets into actual drugs and help guide them into clinical trials.

A potentially positive division of labor

About a year ago a scientist starting work on an HD project hinted to me that the lack of a single disease organization might hamper efforts to discover and implement treatments. Why, he seemed to ask, couldn’t our community get its act together?

I understood his point. Drug companies likely would find it easier to deal with one organization. It would also create a perception of unity, as opposed to one of squabbling.

But there is also a positive side to having multiple organizations: the competition of ideas and strategies. Thanks to the current schema, the organizations are less likely to become complacent in their search for treatments and a cure. Unlike the volunteers in the field, disease organization employees earn a living from that quest, and they are more likely to feel passion for their work in an environment of freely flowing ideas, constructive criticism, and healthy competition.

The unique history and focus of each organization also benefit the HD community by creating a sort of division of labor. CHDI and HDF (and also the HSG) do the heavy lifting on research, while HDSA raises awareness and provides the grassroots infrastructure for patient care and clinical trials. HDDW plays a constructively critical, supportive role in the entire process.

Also, sometimes the institutions overlap one another, especially when it comes to research. Many of the scientists receive funding from two or more organizations and attend their respective conferences. What counts most for scientists is not the origin of their funding, but the fact that the money allows them to conduct the research necessary for finding treatments and a cure.

A call for unity

As someone who began my journey with HD at an HDSA support group and worked many years in the trenches as an anonymous volunteer, I sympathize with those at the grassroots who express frustration about HDSA and/or about the other organizations.

However, as someone who has held important leadership positions in my profession, I also understand the challenges of administration.

I believe strongly that several things must happen in the HD community.

With leadership comes great responsibility. The leaders of the HD organizations should always be open to dialogue with the grassroots. They should display a willingness to learn from and even adopt the innovations of the grassroots.

People at the grassroots have a great responsibility, too. They should remember that these organizations must respond to needs expressed from around the country and even from overseas, as CHDI expands the scope of its efforts in the quest for treatments and a cure. Grassroots activists need to resist the very human temptation to adopt an “us versus them” attitude with respect to the leadership, while, however, also maintaining a constructively critical approach and making their voices heard.

Collaboration, negotiation, debate, dialogue, and the search for common points of interest are hard, but I believe that in the end they can bring us more quickly to a victory against HD.

But dialogue needs to be informed.

The members of the HD community should continually strive to learn about the disease organizations. At the same time, each one of us needs to constantly evaluate his or her part in the fight against HD.

In the end, from the presidents to the family stressed out by HD to the volunteers, we all need to remember: Together we can beat this disease!

(Note: This article was originally posted on October 3, 2011, and updated on October 4, 2011, to correct several factual errors.)