California stem cell agency approves $19 million clinical trial project as Huntington’s disease families ‘change the course of science’

Adult stem cells designed to rescue brain cells from death in Huntington’s disease patients could enter human testing in the next three to four years, thanks to a $19 million grant to an HD research team at the University of California, Davis (UC Davis), from the California Institute for Regenerative Medicine (CIRM).

If successful, this first-ever stem cell clinical trial for Huntington’s could pave the way for a possible treatment of the devastating disorder.

At a public meeting July 26, the oversight board of the $3 billion stem cell agency announced the award to the lab of researcher Jan Nolta, Ph.D., a recognized specialist in mesenchymal (pronounced “meh-zen-KI-mal”) stem cells (MSC), and her collaborator Vicki Wheelock, M.D., a neurologist and the director of the Huntington’s Disease Society of America’s Center for Excellence for Family Services and Research at UC Davis.

Dr. Nolta aims to introduce MSCs, which act as natural “paramedics” in the body, into the brains of symptomatic HD patients to test for safety and tolerability. The trial doses will be made from a sample of MSCs extracted from a healthy donor.

MSCs produce a so-called “fertilizer for the brain” (BDNF, brain-derived neurotrophic factor), whose levels plummet drastically when someone has HD. Dr. Nolta and her team have engineered MSCs to produce higher levels of BDNF in an attempt to help HD-damaged neurons recover and avoid death, thus slowing, halting, or perhaps even reversing the course of HD.

Dr. Nolta’s collaborator Gary Dunbar, Ph.D., of Central Michigan University, has already demonstrated that these MSCs mostly stop symptoms in transgenic mice that have been given the abnormal HD gene.

Dr. Jan Nolta (above) at the HD work bench at the Institute for Regenerative Cures. Below, Dr. Vicki Wheelock (photos by Gene Veritas).

The Nolta-Wheelock grant was one of eight CIRM grants totaling $151 million to labs seeking treatments for debilitating or fatal diseases, including Lou Gehrig’s disease, cancer, heart disease, and spinal cord injuries. The awards were the second largest research round in CIRM history. In 2009 the agency granted more than $200 million to researchers.

With a score of 87/100, the Nolta-Wheelock grant ranked highest in the state.

“We’re just so glad that we didn’t let the community down,” Dr. Nolta told HD activist Melissa Biliardi on The HD View internet radio program on July 23 in anticipation of the expected award.

In this same round UC Davis received two other grants – to seek treatments for peripheral artery disease and osteoporosis – that Dr. Nolta will help oversee in her role as the director of the UC Davis stem cell program and the university’s Institute for Regenerative Cures (IRC), which has nearly 150 affiliated faculty researchers.

“People are hopeful, truly hopeful for the first time,” Judy Roberson, the former president of the Northern California Chapter of the Huntington’s Disease Society of America (HDSA) and the widow of an HD victim, said after the CIRM announcement. “This is a nightmarish, cruel disease in every way but now, thanks to CIRM, we are turning the dream of a stem cell therapy trial into a reality. Research means hope for people with this disease, but research costs money. CIRM has given us all hope.”

The trial’s proposed timeline

CIRM will grant the $19 million over four years, the proposed timeline of the clinical trial project. Most of the money will cover charges such as surgeries, operating room and hospital costs, MRI scans, and other items related to the actual trial.

According to the proposal, the UC Davis team will spend the first year testing the safety of MSCs in healthy non-human primates. This stage of the project will help the team secure the necessary approval for human testing from the U.S. Food and Drug Administration (FDA), which regulates clinical trials.

In the project’s second year the team hopes to enroll at least 26 early-stage HD patients in an observational study, including motor and psychiatric tests and MRI brain scans, to obtain basic measurements of their health for comparison with readings to be taken during the clinical trial.

At the start of the third year, if all regulatory approvals have been obtained as planned, the patients will receive a single, direct injection of the MSCs into each side of their brains (a bilateral intrastriatal injection). A special neurosurgical team, which will include experts from the University of California, San Francisco, will bore a tiny hole into the skull to insert a tiny cathether to deliver the cells. Direct insertion is necessary because of the blood/brain barrier, which allows few medications to enter the brain. Patients will have part of their heads shaved. However, their hair should grow back, and the holes will heal over.

Half of the patients will receive MSCs with the extra BDNF-producing capability, while the other half will receive a placebo, MSCs without that capability.

Trial participants will receive dosages in groups and on a staggered schedule, with each successive group receiving a higher amount of the MSCs.

The remainder of the trial will primarily check for the safety of the MSCs. As a secondary goal, the scientists and physicians will also look for alleviation of symptoms and evidence that the MSCs are improving the health of the brain.

This first step in the trial is known as Phase I. If the MSCs prove safe, the team would seek funding for Phases II and III to fully measure the cells’ efficacy.

All of these plans must receive formal approval from UC Davis’s internal review board and then the FDA, after which full details will become available for potential trial participants.

A brief history of stem cells

To understand Dr. Nolta’s work we must travel back in time to explore the roots of today’s revolution in stem cell research.

Stem cells became a hot topic in the first decade of the 21st century because of the controversy over one type: embryonic stem cells. However, stem cell research long predates this controversy.

Recall that a stem cell has a very important property: it can make cells that eventually become another type of cell such as a muscle cell, skin cell, or brain cell (neuron).

Stem cells help our bodies regenerate lost or worn tissue and components such as our blood, liver, and skin.

Humans have understood the idea of regeneration since ancient times, and scientists first started discussing the concept of stem cells in the mid-1800s. Scientists first discovered stem cells in mice bone marrow in the early 1960s.

The very first stem cell therapy (treatment) in humans took place in 1968 with the successful bone marrow transplant for a leukemia patient whose marrow donor was an identical twin. This type of transplant helps the patient because bone marrow contains stem cells that produce new blood cells. Because of stem cell research, other kinds of transplantation and tissue regeneration have become possible.

Over the last few decades, scientists have identified other types of stem cells, including those that produce neurons. Stem cell research is now burgeoning around the world. Scientists use stem cells both to understand human biology and to seek therapies for diseases and traumas.

In August 2001, President George W. Bush stopped federal funding for new embryonic stem cell research because of his belief, shared by a good number of Americans, that such research destroyed human life (the embryo from which the stem cells were taken) and was therefore immoral. In California Bush’s restrictions spurred a successful movement to pass a 2004 ballot initiative, Proposition 71, that skirted the president’s order with state-level funding, created CIRM, and catapulted the state into global leadership in stem cell research.

In recent years, however, new discoveries have lessened the controversy about stem cells. Scientists have made many advances using adult stem cells – those extracted from a living human being without any risk. In 2006 researchers achieved another milestone that reduced the need for embryonic stem cells: they could now take cells from the skin or other parts of the body and reprogram them into a stem cell.

Dr. Alvin King of the University of California, Irvine, displays a neural stem cell on the screen of a microscope (photo by Gene Veritas).

The MSCs, Dr. Nolta’s focus for the past 25 years, are adult stem cells. Everyone has MSCs. They are found in the bone marrow, as well as in fat, dental tissue, and the umbilical cord. They can make bone, tendons, ligaments, and other connective tissues. MSCs grow well in lab conditions, making them a prime candidate for research.

Along with other scientists, in recent years Dr. Nolta and Leslie Thompson, Ph.D., of the University of California, Irvine, another CIRM grantee, began employing stem cells in Huntington’s research. Besides MSCs, HD researchers use human embryonic stem cells, human induced pluripotent stem cells, neural stem cells, and others.

In Dr. Nolta’s assessment, MSCs appear to have especially great potential in treating HD because of their abilities as the body’s “paramedics.” This potential is described in detail below.

From child scientist to MSC expert

Dr. Nolta’s path to the potentially historic MSC HD clinical trial began in childhood and took shape in the midst of the stem cell revolution.

“I think I was probably born a scientist,” she told me during a May 2011 visit to her lab on the occasion of the HDSA Northern California Chapter’s annual convention. “I was the kid that was out in the yard investigating bugs and watching eggs hatch and feeding baby animals that were rescued and trying to understand how caterpillars went through the chrysalis form and came out as moths and butterflies.”

Raised by a single working mom in the small northern California town of Willows and depending on grants and waitressing for her college education, Dr. Nolta received a degree in biology from Sacramento State University in 1984.

After graduation Dr. Nolta took M.A.-level science courses at UC Davis and volunteered in a lab. “We could take stem cells from the bone marrow and culture them,” she recalled. “There was this ‘magical’ potion that we could put them in and culture them for just a few days and could watch them divide and grow into blood cells. I wanted to secretly keep the cultures growing and study them.

“Where I fell in love with mesenchymal stem cells was in 1987. We started doing long-term bone marrow cultures, and there’s a component that grows out when you take a marrow aspirate from a human being that’s a mono-layer of broad, flat cells.  We used to call those the marrow-stromal cells. They later got renamed to mesenchymal stem cells due to their potentiality and all that they can do.”

Dr. Nolta learned that MSCs could assist greatly in gene therapy. Also known as cellular therapy, gene therapy involves the use or alteration of genes to treat disease. Dr. Nolta was impressed with MSCs’ strong ability to assimilate and deliver gene therapy products.

“I realized very quickly that we could engineer them to even better support the other cells in the body,” she explained.

To deepen her knowledge of stem cells and MSCs, Dr. Nolta enrolled in the Ph.D. program in molecular microbiology at the University of Southern California under the mentorship of Dr. Donald Kohn, a specialist in pediatric bone marrow transplantation. At Children’s Hospital Los Angeles she assisted in his pioneering work on bubble baby syndrome, AIDS, and other conditions.

From this experience Dr. Nolta learned the techniques of gene therapy, growing stem cells, and applying stem cell therapies in the clinic. With Dr. Kohn’s team, she performed the first cord blood gene therapy trial for infants born with bubble baby syndrome, a type of serious immune deficiency.

In 2002 the Washington University School of Medicine in St. Louis, one of the nation’s top medical schools, recruited Dr. Nolta to help build its programs in gene therapy and stem cell research. There she continued her work on gene therapy and MSCs and collaborated with her close colleague Gerhard Bauer, Ph.D., in the establishment of a GMP (good manufacturing practice) facility, a highly advanced lab crucial for producing cell and gene therapies.

The power of grassroots advocacy

However, the future of stem cell research lay in California. In 2007 UC Davis lured Dr. Nolta back to her home state to direct its stem cell programs under the umbrella of the brand-new IRC, the Institute for Regenerative Cures. CIRM awarded UC Davis $21 million to construct the IRC and its state-of-the art GMP facility. UC Davis contributed $40 million to the project.

With little knowledge of Huntington’s disease, Dr. Nolta had no plans to include it in her research program at the IRC when she was recruited.

Around the state, however, HD advocates were telling their stories of the desperate need for treatments at the public hearings of the CIRM oversight board. They pushed hard for the CIRM to back HD research.

UC Davis stem cell program manager Geralyn Annett (left), HD patient Sharon Shaffer, Alexa Shaffer,  and Dr. Nolta advocating for HD research at a CIRM board meeting at UC San Diego in 2008 (photo by Gene Veritas)

During her recruitment trip to UC Davis, Dr. Nolta met Dr. Wheelock of the HDSA Center of Excellence.

“Have you ever considered using stem cells to treat Huntington’s disease?” asked Dr. Wheelock as she rode with Dr. Nolta in an elevator.

“You know, for the last 20 years, I have been researching how to use stem cells to treat every part of the body except the brain,” Dr. Nolta responded, citing the critical hurdle of the blood/brain barrier.

“The families impacted by Huntington’s disease are truly remarkable,” Dr. Wheelock rejoined. “I’d love to introduce you to them.”

That conversation spurred Dr. Nolta to take a scientific interest in HD. More importantly, meeting the families deeply moved her. She decided to act.

With initial financial backing from HD advocates from the Sacramento area and elsewhere, Dr. Nolta delved into a project to find a way to use MSCs to combat HD.

Dr. Nolta used her early findings to apply for a grant from CIRM. In 2009 the agency awarded her lab $2.7 million to study the use of genetically reengineered MSCs to block HD at its genetic roots, first in lab dishes, then in mice (explained below).

During our interview at the IRC, Dr. Nolta pointed to the photographs of HD advocates on her desk.

“They change the course of what scientists do,” she said, breaking into tears. “My life was forever changed.”

In all, local fundraising efforts have provided some $100,000 for Dr. Nolta’s work. Donations have included $15,000 from the Deshalamar foundation and $40,000 from Team KJ, an Illinois initiative in support of Kara Jean Fleming, a 40-year-old HD patient. The Joseph P. Roberson Foundation, named for the deceased husband of Judy Roberson, has also supported Dr. Nolta’s work. Many other donors, large and small, have also contributed.

Watching the paramedics in action

With the new $19 million CIRM grant – the largest in Dr. Nolta’s career – she and the UC Davis hope to set their MSC research on the path to a treatment.

The MSCs’ many attributes make them attractive for treating HD.

“They’re very social,” Dr. Nolta explained as she played a highly magnified video in which the MSCs appeared to swim and greet one another like people playing in a swimming pool. “They like to interact with other cells.”

The MSCs also move around the body with great facility, Dr. Nolta added. They can project little tubes, called nanotubules, that tunnel into cells and inject them with necessary items such as proteins and mitochondria, the powerhouses of the cell.

“It’s like giving a cell new batteries,” Dr. Nolta explained. “They just open up a nanotubule and put the new component into the other cell. So that’s why we call them paramedics. It’s like they’re going around with tool kits to repair the other cells…. They like to check out other cells, to see if they’re healthy. They can change what they produce from what they sense from the environment and from the other cells. They just become like little factories.”

“They almost look like living organisms,” I observed.

“They are,” Dr. Nolta said. “They’re alive.”


(Watch the video below to see the MSCs in action.)

Mesenchymal Stem Cells in Action (narrated by Dr. Jan Nolta) from Gene Veritas on Vimeo.

The MSCs’ sociability results in part from the fact that damaged or sick cells and neurons put out “distress signals” that spur the paramedics into action, Dr. Nolta continued.

The same process occurs in the brain, she added. In mice that carry the human Huntington’s gene and have HD-like symptoms, MSCs injected into their brains migrated to the areas of damage.

Transplantations of human tissue often trigger a rejection by the immune systems of the recipients, requiring them to take anti-rejection drugs sometimes for the rest of their lives. This does not occur with MSCs, Dr. Nolta said.

“That’s the beauty of them,” she said. “They’re transplanted from one patient to the next with really no regard to tissue matching. They actually shelter themselves from the immune system through some of the things that they secrete. We think that’s part of their natural function in the body.

“When there’s a wound or a heart attack or some kind of ischemic event, a stroke, they can go to that area, and they want to cause the tissue to heal without scarring. That’s part of their innate mission. They don’t want the immune system to see it while it’s getting fixed up, because you could start making auto-antibodies to that damaged tissue, and then you would destroy that tissue. We think that the MSC just go to the scene of the injury and keep the immune system at bay while they’re doing their remodeling. It’s kind of like keeping everybody out of a construction site.”

The goal: restoring neurons and connections

According to Dr. Nolta, the MSCs secrete substances that help restore the vital connections between neurons. Such connections are lost in HD. Additionally, in secreting BDNF and other brain growth factors, the MSCs can help damaged neurons recover. She likened this scenario to a chain of Christmas lights that, missing a bulb, will go out. Restoring the bulb – a healthy neuron – gets the whole chain working again.

In the case of the proposed clinical trial, the UC Davis team will ramp up the MSCs’ capability to provide BDNF. In mice tests, they have increased that capability by a hundredfold.

The big question, Dr. Nolta told me in an interview on July 30, 2012, is this: how effective will MSCs prove in helping the entire striatum, an area of the brain deeply compromised by HD and where the MSCs will be injected?

“The MSCs can secrete huge amounts of BDNF, so that might be effective” in helping to restore the striatum, she said.

Attacking HD’s genetic roots

If the MSC BDNF trial proves successful, the UC Davis team could use another up-and-coming tool for combatting HD: RNA interference.

In designing a substance known as a small interference RNA molecule (siRNA), other researchers have already reducedthe amount of harmful huntingtin protein in the brains of test animals. A similar approach, known as antisense, has demonstrated similar results.  Both approaches should enter clinical trials within the next few years, if not sooner.

Still in the early stages of this aspect of their research, Dr. Nolta and her UC Davis HD team have discovered a way to deliver siRNA into cells in a dish using MSCs.

Some researchers are examining ways to implant new neurons or fetal-striatal stem cells into patients’ brains to repair the damage caused by HD. However, Dr. Nolta pointed out that those cells could become affected by HD.

The use of siRNA could protect those and other cells from HD. Dr. Nolta has photos and video of the MSC nanotubules transferring siRNA into other cells. Her lab is now testing MSC siRNA in mice.

Controlling the huntingtin gene and protein effectively is the “holy grail” of HD research because it would allow gene-positive, non-symptomatic people like me to take a preventative treatment.

‘A super, super clean place’

Although the human brain has MSCs, in HD people those MSCs make the same mutant huntingtin as the other cells in the brain and, indeed, in the rest of the body. Compromised in this manner, the MSCs in HD people’s brains cannot make necessary levels of BDNF.

As a result, for the Phase I MSC BDNF trial, the HD team will make batches of MSCs from bone marrow cells provided by a healthy donor and therefore containing normal, non-disease-causing huntingtin.

Federal regulations require GMP for any substance that will be tested in humans. Thus, in the run-up to Phase I, the MSC batches will be made at the UC Davis Institute for Regenerative Cure’s GMP facility. It could make enough MSCs for 100 patients, Dr. Nolta said.

“You need your own facility to get up to this scale,” she commented. “How to manufacture these batches of cells is a whole industry in and of itself. It’s usually companies that would do this. Sometimes they charge exorbitant fees.”

This level of “scale-up” to a clinical trial is “our forte here,” Dr. Nolta told me in our recent interview. The National Institutes of Health and insurance companies don’t fund these kinds of initiatives, she noted, leading many drug candidates with good potential to “fall into the valley of death.”

During my visit to the IRC, she referred to the GMP as a “super, super clean place.” It will triple-check the quality of the MSCs.

As explained to me by GMP specialist Bill Gruenloh, normal air contains hundreds of millions of particles per cubic foot. Air handlers and HEPA filters reduce the number of particles in the manufacturing room to only 10,000. Areas under tissue culture hoods have just 100. In addition, the highly specialized GMP employees maintain meticulous records of every article in the facility. A computer constantly monitors the GMP, and the employees double-check readings with hand-held instruments. Thus no micro-organisms are present in critical areas of the GMP.

If a contamination or other problem occurs with a test drug, the GMP records help trace the cause, Gruenloh said. 

UC Davis GMP specialist John Walker at work (photo by Gene Veritas)

The GMP also stores stem cells and other items at carefully controlled, very low temperatures. The UC Davis GMP developed the first GMP-grade cell-sorter in the world, Gruenloh added.

In addition, the GMP houses its own quality control lab to check the safety of products and verify that they are free of contaminants and bacteria.

Putting the project in perspective

As Dr. Nolta has pointed out on several occasions, more than 10,000 patients worldwide have already received MSCs infused into the blood stream. In fact, the drug regulatory agencies of Canada and New Zealand have already approved the use of MSCs to be prescribed as a drug to treat certain diseases, although not yet HD. In addition, at least four companies are currently testing MSCs or MSC-like cells in clinical trials for other neurodegenerative conditions.

As always, we need to recall that only 10 percent of clinical trials ever lead to an actual drug. Mathematically speaking, the odds are stacked against the Nolta-Wheelock project.

Even if the Phase I trial proves a dramatic success, the UC Davis team will need to find ways to fund Phases II and III, which will require larger numbers of participants and thus cost more money. Backed by public bonds, CIRM will run out of money in about four years, unless the agency can attract private investors. At least for now, the state of California’s dire fiscal situation makes further public funding unlikely, although one cannot predict the mood of the voters.

With an eye to the future, Dr. Nolta and UC Davis have secured a patent for the MSC siRNA delivery technology in the hopes that a pharmaceutical firm or other private investor might risk supporting further research and testing in exchange for some of the potential profits from a drug. She noted that companies visit the IRC regularly, although none has yet expressed an interest in supporting HD work.

Despite these caveats, I am struck by the apparent simplicity of the UC Davis approach: using human cells as a way to deliver remedies to the brain.

I am also impressed with the UC Davis team’s boldness in moving as quickly as possible towards a clinical trial. In fact, some scientists think they’re moving too quickly with their siRNA plans, although Dr. Nolta characterized their criticism as a “misunderstanding” of her project, since it is the BDNF trial, not the siRNA, that is moving toward the clinic first. The siRNA studies are only in early rodent testing.

A successful MSC HD trial would extend immense hope to patients suffering from other neurological diseases (such as Alzheimer’s and Parkinson’s), as well as ischemia, heart disease, and other conditions, Dr. Nolta said. Such hope would likely translate into greater private funding for MSC research.

Hope, realism, and future advocacy

California’s HD stem cell advocates – along with fellow HD activists around the world – can feel confident that CIRM is having an important impact on HD research.

We now await the MSC trial results – and with great hope!

However, we should also proceed with patience and realism.

Science takes time.

Furthermore, most scientists think that treating HD successfully will require a cocktail of remedies, not just one.

With grassroots support for, and intense interest in, the UC Davis HD program, the HD community is betting heavily that MSCs will provide a way to alleviate the conditions’ horrific symptoms.

Judging from the unprecedented excitement about the CIRM grant that I have witnessed in the HD Facebook community in comparison with news about other breakthroughs, I think people perceive stem cells as providing the greatest hope. Indeed, for many Americans, stem cells seem to hold an almost magical appeal, as they once did for the young Jan Nolta at the start of her career. People seem to sense viscerally that they can provide cures and replace lost cells and tissues. Could stem cells represent our new Fountain of Youth?

Naturally, we all want, need, and deserve to celebrate the CIRM award.

I myself have advocated for California stem cell research for more than a decade through HDSA-San Diego. Having lost my mother to HD in 2006 at the age of 68 and tested positive for HD in 1999, I anxiously await treatments. When people told me that potential stem cell breakthroughs lay too far in the future to offer me hope, my resolve to fight only strengthened.

Yet we should also keep in mind that scientists are working just as hard on numerous other, highly important approaches. They don’t stir the controversy and publicity that have surrounded stem cells, and many are extremely difficult to understand, but they could very well lead to effective treatments.

In effect, the Nolta-Wheelock project is another “shot on goal” in the search for HD treatments. The CHDI Foundation,Inc., the major private backer of HD drug research, and its collaborators will attempt as many as eight such shots in the next few years. The more shots, the better the chances of finding treatments and a cocktail.

In the meantime, just as Dr. Nolta, the UC Davis team, and scientists around the world work feverishly to liberate us from HD, we in the HD community must continue to strategically advocate for our cause, creatively help change the course of science, and participate in the crucial research studies and clinical trials that provide the key to defeating HD.

* * *

Additional information

Once the UC Davis trial is approved the FDA, details of how to participate will become available at www.clinicaltrials.gov.

For an HD family member’s account of the historic CIRM meeting, read Katie Jackson’s report at The Huntington’s Post.

To learn more about Dr. Nolta’s research, read an article by Dr. Marsha Miller by clicking here.

For the official CIRM evaluation of the project, please click here.

For in-depth reporting on CIRM’s activities, see California Stem Cell Report.

You can also read an impassioned defense of stem cell research by global HD advocate Charles Sabine.

HD scientist Dr. Elena Cattaneo provides an update on the European Union’s support for stem cell research.

For an overview of stem cells, see Stem Cells for Dummies.

On stem cells and HD, also see www.HDBuzz.net.

To see a presentation by Dr. Nolta on MSCs and HD, watch the video below.

Towards Stem-Cell Treatments for Huntington's Disease: Talk by Dr. Jan Nolta from Gene Veritas on Vimeo.

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.

Yale’s partnership against Huntington’s disease: an alumnus reconnects and finds hope as scientists pursue ‘Viagra for the brain’ and other solutions

The revelation in 1995 that I was at risk for Huntington’s disease, followed by my positive genetic test for HD in 1999, thrust me into a role as an activist, a journey to understand the biotechnological frontier, and a fight for my life.

However, for many years, and even after “coming out” in a major speech to scientists in February 2011, HD has remained my radioactive semi-secret because of the stigma surrounding the disease and my fear of genetic discrimination.

In those early years of confronting HD, I needed to open up to someone – and to seek help for the cause. Beyond some branches of my family and my local HD support group, I turned to the people I trusted most: fellow Yale University alumni, some close friends, others within a circle of trust. Many lent a sympathetic ear, offering donations, contacts, and advice.

Above all, they helped me feel less lonely inside the terrible “Huntington’s closet.”

Dr. Martha Nance, a neurologist in Minneapolis dedicated to finding treatments for HD, became one of my closest HD confidantes. Brooklyn-based journalist Norman Oder suggested the idea for this blog. Editing nearly every article, Oder has become more than a friend: he is my Huntington’s alter ego.

Dr. Martha Nance and Gene Veritas in San Diego, 2007.

Yale’s seal, which includes the Latin phrase “Lux et Veritas” (light and truth), echoed in my choice of an HD pseudonym, “Gene Veritas,” the “truth in my genes.”

Now, in a way I would never have imagined, I have come to rely on Yale itself in my fight against HD.

At the CHDI Foundation’s Seventh Annual HD Therapeutics Conference, held February 27-March 1 at the Parker Palm Springs in Palm Springs, CA (a hotel owned by fellow alum and real estate developer Adam Glick), I heard exciting news about how scientists in the Yale School of Medicine will help prepare the way for clinical trials of potential therapies.

(Backed by a group of anonymous donors, the non-profit CHDI once stood for “cure Huntington’s disease initiative” but today simply represents the name of the foundation, which focuses exclusively on the search for HD treatments.)

In my unrelenting drive to translate HD science into understandable terms, I dubbed these compounds “Viagra for the brain,” a phrase that refers not to the salacious aspects of the famous drug but to these compounds’ biochemical similarity to Viagra.

I also decided to visit the scientists’ labs to deepen my understanding of their crucial work, to offer my assistance, and to give myself a shot of much-needed hope.

Below, watch my short introductory video of the visit.




An emotional return to New Haven

I had returned only twice to Yale – in 1983, a year after graduation, and, during a memorable cross-country trip with my wife and daughter in 2010 in my effort to enjoy life to the fullest before the inevitable symptoms of HD set in.

This time I arrived in New Haven on May 28 after a two-hour train ride from Manhattan.

That evening, walking through the Yale campus almost 30 years to the day after I graduated, I experienced a flood of memories – some painful, some hilarious, and many, many warm and wonderful.

I remembered the sacrifices my grandparents and parents had made to help me to attend one of the world’s top institutions of learning. I recalled how, as the grandson of immigrant grandfathers and the son of working-class parents, I strived to reach the top academically and then professionally.

As I peered into the darkened windows of the Yale Daily News, where I served as a reporter, I wondered whether my 12-year-old daughter, who writes well and recently sent letters to 35 U.S. Senators about my plight and the need to reverse their opposition to health care reform, might herself someday become a journalist. I imagined the two of us critiquing news articles together. She’s finishing up sixth grade this month, and she says she wants to attend Yale. I imagined her striding confidently through the offices.

It seemed almost yesterday when I walked to classes and debated and laughed with friends in the dining halls of the university’s grand gothic buildings. Once imposing, they no longer felt intimidating. Life is fast, I thought with a tinge of sadness.

My life was abruptly sidetracked by HD. My mother died in 2006, and my father, with a broken heart, followed her in 2009. I wondered: will HD prevent me from helping my daughter apply for college and begin her own path in life?

Yale has generated many of America’s leaders, and it inspires leadership in various ways. I pondered how I had to rise, along with many others, to an unexpected leadership role in the fight against the disease. And I reminded myself that I must do my part to keep the flame of leadership burning, within myself, for as long as I can; within my family; and within the HD movement.

Back in my hotel room later that evening, I prepared for the next day’s emotionally charged meetings at the School of Medicine. It was a place I didn’t go to as an undergraduate, I thought, and represented a new phase in my HD activism, in my relationship with Yale, and in my life. These scientists could help save me.

Catching the disease early

As part of a global effort to eradicate HD, the Yale scientists will play an important role in investigating some of the disorder’s mysteries and in seeking effective treatments. The university’s faculty in neuroscience, neuropharmacology, and other fields provide a supportive context for this work.

Two of the scientists, Hoby Hetherington, Ph.D., and Doug Rothman, Ph.D., are starting groundbreaking work on important facets of HD.

Dr. Hetherington will apply his knowledge of epilepsy, brain trauma, and brain scans to study an energy deficit in HD resulting from insufficient adenosine triphosphate, the basic fuel for our cells.

Using Yale’s 7 Tesla MRI scanner, one of only a few dozen in the world with ultra-powerful magnets, Dr. Hetherington will scan humans using a method called MRSI (magnetic resonance spectroscopic imaging).

Dr. Hetherington hopes to determine whether the energy deficit in HD is a cause or an effect and, in the process, to produce a clearer picture of the disease as it actually occurs.

MRSI involves the MRI machine augmented with two pieces of additional equipment – a head detector and shim insert – permitting him to track the energy deficit by obtaining clear, high-resolution images of study participants’ brains.

As Dr. Hetherington explained, the detector allows him to adjust the readouts of each scanned individual’s brain by accounting for distortions in the magnetic field caused by the presence of the head. It also accounts for the heat generated by the head. Using the detector, he can contour the magnetic field and also pick specific regions of the brain to excite.

Dr. Hetherington’s lab designed and built the first generation of the detector and continues to develop and test new versions of the device. The detector is now in commercial development for more widespread use.

Dr. Hetherington will use the detector in his planned study of gene-positive, asymptomatic HD people like me.

Dr. Hoby Hetherington places a special head detector in the 7 Tesla MRI scanner in his lab at Yale University (photo by Gene Veritas).

Dr. Hetherington explains the innards of the head detector (photo by Gene Veritas).

To compensate in yet another way for distortions in the scanner’s magnetic field, Dr. Hetherington employs the shim insert, which he also helped to design. Like a common shim used to straighten objects in woodwork or masonry, the shim insert levels out the scanner’s magnetic field. He uses the shim to do the opposite of what the head of the scanned individual does to the field. This makes the field uniform and thus easier to read.

A standard scanner shim typically can do eight adjustments, Dr. Hetherington explained. Yale’s can do about 30.

This shim will play an important part in Dr. Hetherington’s HD scans, in which he will examine areas of the brain (such as the basal ganglia) where distortions are created by the presence of the sinuses and the ear canals.

Dr. Hetherington and the shim insert (photo by Gene Veritas)

Dr. Hetherington explains an actual anatomical image of the brain obtained from the 7 Tesla scanner (photo by Gene Veritas).

“It’s catching the pathology before it’s become lethal or progressed,” Dr. Hetherington said of his lab’s technology during my visit while showing me images from an epilepsy study. “That’s the idea of trying to have an early marker of what’s going on. If the cells have died already, the structure gets small. You can see that on standard anatomical imaging, but that’s kind of too late.”

Boosting creatine

Looking ahead 50 to 100 years, Dr. Hetherington speculated that patients with brain-based disorders such as HD and epilepsy may take a common drug to correct the problems they cause in bioenergetics.

Dr. Hetherington explained that the HD study will seek to measure phosphocreatine levels in the brain. Brain cells produce phosphocreatine, which is essential in bioenergetics, from creatine, which is also created by the body and can be taken in the form of a supplement.

Beginning with my participation in the Huntington’s Disease Drug Works (HDDW) program, I have taken creatine for nearly a decade in an effort to stave off symptoms. Creatine is currently under study in an HD clinical trial. (Click here to read more about HDDW founder Dr. LaVonne Goodman's latest assessment of creatine and other supplements.)

“If you can boost the whole pool (of creatine), you’ll have more phosphocreatine around,” Dr. Hetherington said of the theory behind creatine supplementation.

Paralleling mice and humans

Supported by CHDI, Dr. Doug Rothman, Ph.D. a pioneer in the use of magnetic resonance spectroscopy (MRS) and the Director of Magnetic Resonance at Yale, will employ MRS to examine another kind of energy deficits in the mitochondria, the powerhouses of the cell, in transgenic mice.

HD patients often need a higher-than-average caloric intake.

Rothman’s work could provide important clues as to how Huntington’s kills brain cells – and what treatments might stop it. He hopes to extend the experiment to humans, beginning with a 4 Tesla scanner and perhaps later using the 7 Tesla scanner and its accessories.

“It’s really important to keep an eye on what are the relevant aspects of a mouse model,” Dr. Rothman commented, noting that transgenic animals can manifest symptoms differently than humans, and that the mitochondria are more evolved in humans than in mice. “The only way to do that is to really explore, hopefully in parallel, what’s happening with human subjects.”

Dr. Rothman at work in his office (photo by Gene Veritas)

Alleviating symptoms, strengthening the brain

Also with support from CHDI, two other Yale research groups will assess compounds that, if successful, would improve memory and cognition, arrest some of the psychiatric symptoms, and act as neurotrophins, so-called “fertilizers” for the brain. At least one of these neurotrophins (BDNF, brain-derived neurotrophic factor) is severely deficient in HD.

As noted above, I dubbed these substances, developed by Viagra producer Pfizer, “Viagra for the brain” because the substances belong to the same class of drug as Viagra, an inhibitor of an enzyme known as a phosphodiesterase (PDE).

Although targeting different PDE families than the PDE-5 targeted by Viagra, the biochemistry is very similar. Essentially, the new compounds are cousins of Viagra, aiming to inhibit other PDEs.

The Yale scientists will test these compounds in collaboration with CHDI’s “drug hunters” and Pfizer. One coordinator of the three-way partnership is Ladislav Mrzljak, M.D., Ph.D., CHDI’s director of neuropharmacology and a former postdoctoral fellow in Yale’s Department of Neurobiology.

Scientists hope that inhibition of PDEs will compensate for some of the changes occurring in HD.

With new research showing that some PDE inhibitors reverse symptoms in mice, CHDI and Pfizer recently began collaborating with the ultimate goal of taking them into clinical trials.

“There are currently no PDE inhibitors marketed for central nervous system diseases,” Christopher Schmidt, Ph.D., a senior director at Pfizer, explained. “This is new territory.”

Mihaly Hajos, Pharm.D., Ph.D., a former Pfizer scientist and neurophysiologist with a background studying schizophrenia and Alzheimer’s disease, aims to detect whether the same inefficient use of the brain’s information processing (a so-called “auditory gating deficit”) that occurs in humans with HD also occurs in mice and rats genetically engineered to have the disease. If so, Hajos will then test PDE inhibitors as a remedy.

The experiment also could validate the electrical signals as a good biomarker, or measure, of the inhibitors’ impact on people.

Dr. Mihaly Hajos (center) with assistants Elizabeth Arnold and Dr. David Nagy (photo by Gene Veritas)

Studying nonhuman primates

Another project involves the husband-wife team of Graham Williams, D.Phil., and Stacy Castner, Ph.D., neuroscientists in the Department of Psychiatry who are specialists on schizophrenia and substances known as “cognitive enhancers.” The duo will test the effects of PDE inhibitors on cognition in normal, healthy nonhuman primates. These subjects contrast sharply with the transgenic, diseased mice, rats, flies, and even sheep and pigs used in other Huntington’s research.

“We can’t be dependent on the genetic model,” Dr. Williams explained, emphasizing the need to view the disease and the effect of potential drugs from various perspectives.

If the inhibitors work, Drs. Williams and Castner will submit the animals to harmless brain scans using FDG-PET to localize areas of the brain affected. These measurements could help predict the impact of the inhibitors in humans.

Successful studies in the nonhuman primates could help to accelerate the process of getting the inhibitors into human trials and ultimately approved as drugs, a process that could take five to ten years.

The PDE inhibitor projects seek ways to intervene early in the disease, before disabling symptoms occur. The potential therapies could help prolong my life and the lives of tens of thousands of gene-positive and symptomatic individuals.

A key workshop: from animals to humans

On May 31 and June 1, I observed yet another aspect of Drs. Williams and Castner’s research by participating with them in a CHDI meeting in Manhattan titled “Translatability of Cognitive Readouts Workshop.” With some two dozen participants and organized by Dr. Allan Tobin, one of CHDI’s two chief scientific advisors, the workshop aimed to help CHDI move from testing of potential treatments in animals to human clinical trials.

Dr. Mrzljak also took part, as did Dr. Ethan Signer, CHDI’s other chief scientific advisor, Dr. David Howland, director of in vivo biology, and Dr. Beth Borowsky, director of translational medicine. Robi Blumenstein, the president of CHDI’s sister management firm, kicked off the meeting.

CHDI will release the conclusions of the workshop in the near future. Watch my short interview about the meeting with Dr. Tobin in the video below.



The workshop was quite intense and intimate, to say the least. Sitting at a table with one another for eight hours on two consecutive days, and sharing dinner and drinks in lower Manhattan the evening of May 31, we formed new friendships and professional relationships. Dr. Tobin purposely plans the workshops in this way to extract the maximum of candor and new ideas.

I was invited to the meeting as an “observer.” I thought I would quietly sit in the back and take notes.

However, to my surprise, Dr. Tobin seated me at one of the heads of the workshop table. Just before the event began at 9 a.m. on May 31, he asked if I would mind sharing my story with the scientists, and to be “interviewed” by Dr. Julie Stout, an American HD researcher based in Australia.

A number of the invitees, such as Drs. Williams and Castner, had devoted their careers to non-HD conditions and questions, so for many in the room I was a first contact with a person from an HD-affected family.

What I expected to be a few minutes of introduction to the disease turned into a 90-minute discussion about the many social ramifications of the disease. In an effort to contribute to the questions of translatability and cognition, I described such symptoms as my mother’s depression, her loss of the ability to work, her inability to interact with her granddaughter and other family members, and the ways in which our family and her physicians attempted to deal with her symptoms. I also spoke about the fear surrounding genetic testing.

Dr. Stout commented that telling my story helped the scientists understand what it’s like to live with HD. Scientists, she observed, need the collaboration of those confronting HD in the quest for solutions.

At the end of the workshop, I thanked Dr. Tobin, CHDI, and the scientists for allowing me to share my story – which, I pointed out, was just one of thousands of such stories one could hear from the HD community.

CHDI translatability workshop participants, with Gene Veritas standing in back of room (photo by Jerry Turner, CHDI)

Yale and the big picture

Together with CHDI and Pfizer, Yale scientists will furnish pieces of a very large and complex Huntington’s puzzle currently under study by researchers throughout the world in academic labs, pharmaceutical companies, and medical clinics. CHDI, as well as governments and other organizations, supports many of  those projects in producing what most scientists project as an “HD cocktail” of therapies for managing the disease and allowing those affected to lead normal and productive lives. (Scientists don’t speak of “curing” HD, because of its immense complexity and the fact that the defective gene cannot be removed from the body.)

The path, however, isn’t simple. At Yale, Drs. Hetherington and Rothman voiced concern about the potential lack of volunteers for their research involving brain scans. Indeed, stigma and other factors threaten to leave scientists with too few research participants in which to adequately test drugs for safety and efficacy. Tragically, the drive to halt Huntington’s could stall. I pledged to help spread the word of the scanning studies in the Huntington’s community.

In the quest for treatments, scientists and patients depend on each other. Likewise, the many disease communities share a mutual goal. By helping to solve Huntington’s, Yale’s scientists will also assist those fighting Alzheimer’s, Parkinson’s, and many other conditions that afflict millions – as well as the estimated tens of millions of victims of thousands of other genetic and orphan conditions, the focus of Yale’s new Center for the Study of Mendelian Disorders.

Yale, its alumni, and its scientists have lent an enormous hand in my family’s fight. I have already gained strength and support from a network of Yale ties. Someday I may take a Huntington’s drug tested in a Yale lab.

The place that ignited my intellectual passion and launched me into life once again holds one of the keys to my future. This is the American university at its best – engaging in cutting-edge drug discovery, aiding a community long beleaguered by stigma and hopelessness, and affirming life.

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.