Are we failing to stop Huntington’s disease by ignoring ‘natural’ remedies, alternative therapies, and repurposed drugs?

This article is Part 2 of a two-part series.

Because Huntington’s disease is so devastating and intractable, many affected individuals and presymptomatic gene carriers like me have chosen to take substances outside the pharmaceutical mainstream to try to forestall the inevitable onset or worsening of symptoms.

The reason: 26 years after the discovery of the huntingtin gene, despite significant progress in understanding the disease, there is no effective therapy or cure. 

In Part 1 of this series, Robert Pacifici, Ph.D., the chief scientific officer for CHDI Foundation, Inc., discussed the immense progress made in HD research and the optimistic prospects for developing therapies. CHDI is the largest nonprofit effort aimed at defeating HD.

Only two drugs addressing symptoms of HD have been approved by the U.S. Food and Drug Administration (FDA) – Xenazine in 2008 and the similar, improved drug Austedo in 2017. Both treat the involuntary movements in HD (chorea) but do not attack the causes or halt progression of this fatal disorder. (Click here to read more.) 

Physicians also prescribe medications – nonspecific for HD – to alleviate the difficult behavioral and psychiatric symptoms. Those drugs also have no effect on progression.

Trying supplements

My mother died of HD in 2006 at age 68. As I desperately witnessed the disease’s inexorable onslaught on her mind and body, I embarked on a controversial “treatment now” program of unproven but certainly not quackish supplements, the Huntington’s Disease Drug Works (HDDW) regimen developed by veteran HD physician LaVonne Goodman, M.D. 

Starting in 2005, I introduced the supplements into my diet in steps. I worked up to a daily routine in which I took 75 grams of trehalose, a sugar that seems to help the brain clear cellular debris; 600 mg of medical-grade coenzyme Q-10 (which I had taken on and off since 1996); two g of omega-3 oil; two g of blueberry extract; and ten g of medical-grade creatine. (Click here to read more.)

For several years I participated as a subject in an HDDW online observational study, performing cognitive tests on a home computer. In this very small study, several early or midstage HD-affected people showed stabilization or improvement. Late-stage patients did less well, continuing to progress with the disease. The study was too small for its results to be applicable to the general HD population. (Click here to read more.)

I was the only presymptomatic gene carrier in the trial. Afterwards, I continued the regimen on my own, but regularly consulted with Dr. Goodman.

In 2014, I stopped coenzyme Q-10 and creatine after clinical trials proved them ineffective. Recently, in place of expensive high-grade omega-3 pills, I’m eating more fish. Annually, I’ve spent thousands of dollars on supplements – none covered by health insurance.

I have also sought to lead a healthy lifestyle, including intellectual and social enrichment. Doctors and researchers encourage this and have pointed out that it could be part of why I have long passed my mother’s age of onset, although there is no scientific proof  (Click here to read more).

The HDDW program and the clinical trials for coenzyme Q-10 and creatine were the most formal testing of supplements. HD-affected individuals have tried and/or discussed a range of other substances, including injections of live fetal shark cells, the amino acid cysteine, medical marijuana, and the highly popular – but potentially harmful – marijuana and hemp extract cannabidiol (CBD), usually by drinking an oil.

Above, CBD products in a Los Angeles, CA, grocery store (photo by Deceptitom [CC BY-SA 4.0 {https://creativecommons..org/licenses/by-sa/4.0}]). Below, the supplements I have taken (photo by Gene Veritas, aka Kenneth P. Serbin)

One group of advocates has also pushed for a clinical trial of methylene blue, a dye under study as a possible way to alleviate a variety of medical conditions.

In our recent interview, Dr. Pacifici and I delved into whether CHDI and the HD community are failing to defeat the disease by ignoring these types of alternative approaches, including so-called “natural” remedies and repurposed drugs. The video of our interview is posted at the end of this article.

HD-specific drugs needed

Citing the increased interest in HD in the pharmaceutical industry (discussed in Part 1), Dr. Pacifici said that CHDI would assist any company aiming to test an HD drug, as long as it’s safe, tolerable, and backed with enough resources to do a careful clinical trial.

“It’s wonderful that there’s this diversity of folks that have assets and try and come into the field, as long as they’re credible and well-thought-out,” he said.

However, because of HD’s genetic cause and complexity, CHDI has stressed that drugs for halting disease progression must be “new chemical entities” and HD-specific.

Dr. Pacifici pointed to an example: difficulties with sleep, a serious symptom of HD. The HD field must consider: “What are the things that are probably going to happen out there anyway, because there’s a big market for sleep medications versus the things that are very specific to HD, that if we don’t do them, they’re not going to get done?”

Don’t expect to win the jackpot

The need for unique HD drugs, and the overall history of drug discovery, point to the fact that so-called “natural” approaches and repurposing of other drugs will not result in effective treatments, Dr. Pacifici asserted.

The alleviation of Dr. Pacifici’s own suffering from familial Mediterranean fever (FMF, discussed in Part 1) resulted from the discovery of the drug colchicine, “a natural thing from the crocus flower” already in use to treat gout. Such a scenario is atypical, he explained.

“Obviously, I didn’t just win the Lotto,” Dr. Pacifici said. “I won the Mega Millions with the fact that I happen to be treated by an existing drug. It’s pretty rare.”

The HD community should not expect such an outcome, he said.

“Obviously the thing that’s wonderful when that does happen is that there’s no path that’s shorter from a discovery to a treatment,” he continued. “But the effect has to be pretty overwhelming.”

Indeed, colchicine “completely stopped” the recurrent abdominal pain and fever of FMF. 

“You can imagine,” he said, “that observation’s a little harder to make in Huntington’s disease, given the slow progression of the disease, given the myriad of symptoms.”

Robert Pacifici, Ph.D. (photo by Gene Veritas)

Is ‘natural’ better?

The notion of “natural” products is a bit “artificial,” Dr. Pacifici pointed out.

“People, first of all, seem to think that something that’s ‘natural’ is better,” he said. “There are plenty of horrible poisons like ricin that are natural, and if you take them, they kill you. It’s ‘organic,’ and it’s ‘natural.’ That doesn’t mean it’s good for you!”

We discussed a clinical trial for an eye disease using liquid from the resin of the mastic tree from the Greek island of Chios, as reported by New York Times columnist Frank Bruni. For thousands of years, people have used the resin to address many types of health problems. The trial seeks to test whether the liquid can repair damaged nerves in the eye, with potentially positive implications for people with Alzheimer’s disease and other neurological conditions.

Dr. Pacifici said that, in such a study, scientists need to know the exact chemical makeup of the substance and, in the case of a possible HD treatment, determine whether that makeup is any different from other compounds CHDI has tested.

In the case of the mastic tree, scientists also need to ensure that weather conditions and the conditions of the tree do not alter the makeup of the resin. Also, the testing of the substance needs to be “reproducible,” he explained. 

That the compound in the liquid comes from a natural source is irrelevant, he added, because scientists can produce such compounds in a lab.

Clinical trials are expensive, costing hundreds of millions of dollars, Dr. Pacific observed. Ultimately, CHDI and HD researchers need to avoid “taking empty shots on goal that we could have predicted up front had no chance of working.”

Millions of experiments

Not long after its founding in 2003, CHDI did a project to ensure that the HD field did not miss a possible remedy among existing drugs and other substances, some of them natural. According to Dr. Pacifici, the foundation worked with a small firm that had a library of all FDA-approved drugs and also substances such as vitamins and other generally safe items, including some shown to be safe and tolerable in Phase 1 clinical trials.

“We tested all of those,” Dr. Pacifici recalled, referring to the entire library. “In fact, we tested all of those at multiple concentrations. In fact, we tested all of those at multiple concentrations with each other, in pairwise fashion [two drugs at a time].”

Carried out in cells, the tests ran into the millions, he said.

“But we found nothing that suggested, ‘Yeah, there’s the Mega Millions hit or combination of things that should go forward,'” he said.

The massive experiment confirmed the need for a unique, HD-specific type of medicine that could be delivered to the brain safely over a long period of time, thus attacking the specific problems caused by the disease, Dr. Pacifici observed.

Through Enroll-HD, the CHDI-sponsored global study of HD-affected individuals and their families, CHDI tracks unusual data from visits to HD clinics that might suggest follow-up to discover further clues for developing drugs.

The CBD ‘craze’

As a September 29 CNN documentary reported, in the United States production and use of CBD for health reasons has boomed in the last six years. The unregulated proliferation of CBD-containing products such as tinctures, foods, and oils has left the public with little reliable information on the risks, including items with harmful impurities.

“The CBD craze that we’re in, I think, is unprecedented really in the history of medicine,” Donald Abrams, M.D., a leading cannabis researcher, said in the broadcast. “It’s a compound that has gotten way ahead of any research to support the claims that are being made.”

Dr. Pacifici, who’s studied the issue closely, echoed these concerns. Tetrahydrocannabinol (THC), CBD, and other marijuana-based compounds are “enjoying their moment in the sun” because of legalization for recreational and medical use in some states, although not federally, he observed. “It’s kind of the flavor of the month, if you will.”

Only one approved CBD drug

CBD is a “real compound,” he explained.

However, there is only one FDA-approved drug made from CBD, Epidiolex, manufactured by the British firm GW Pharmaceuticals. Epidiolex was shown to be safe and efficacious in the treatment of two types of childhood epilepsy.

GW Pharmaceuticals had to run “through the same paces as any other drug substance,” Dr. Pacifici remarked. “They happened to get it out of the marijuana plant. That’s fine. I don’t care where it comes from. But it’s highly purified and highly quantified so that they know exactly what’s in there and what’s not in there and the purity of it.”

No other CBD product has been tested in a clinical trial.

In Dr. Pacifici’s view, because of the lack of quality control and regulatory approval in the making of CBD products, a critical question remains: “Are people who are experimenting with it actually getting real, pure CBD?” In some cases, the products do not even contain CBD, or have an incorrect concentration.

CBD not yet tested for HD

Could CBD potentially treat Huntington’s disease?

 “The short answer is, we don’t know,” he asserted. “I can’t tell you of the number of fantastic ideas that I’ve had. Wonderful ideas, that I sit down, I think, ‘I’ve had this eureka moment.’ Until you test it, and you find out that biology is more complicated than you thought.”

Scientists, he said, know about CBD’s “pharmacology” – its function, effects, and where it gets into the body. “Is it something that could potentially have a beneficial effect? Sure. But has it been properly tested, especially in HD? Absolutely not.”

Many researchers are currently focusing on CBD for HD, and they have developed some very reasonable hypotheses, he said.

“To my mind, none of them, yet, have reached a level of evidence where somebody wants to go spend a hundred million dollars or more on a trial to see if it’s actually efficacious,” he said. “Maybe they will.”

Insufficient evidence on methylene blue

Regarding methylene blue, Dr. Pacifici observed that research is currently insufficient, “so I don’t think any of us can say definitively that it will work or it won’t work.”

“Isolated examples” show that it might be efficacious, but that’s not enough “evidence to actually run a full-blown human clinical trial,” he explained.

Produced by HD community members in 2016, The Blue Solution video suggests that families can consult their doctors about methylene blue.

However, Dr. Pacifici cautioned against this approach.

“A lot of times people have said things like, ‘Well, as long as it doesn’t do anything bad, why not take it,’” he remarked. “I think that’s a little bit dangerous. First of all, you never really know whether or not something is safe and well-tolerated until it’s tested.

“There are examples of opportunity costs. There are people who were on Co-Q 10 who were not allowed to participate in other, real trials because they were loaded up with Co-Q 10. So, the idea that ‘it’s probably safe, and I’ll take it in case it is good,’ I wouldn’t certainly advise somebody to go just based on that limited amount of evidence.”

Diet and lifestyle

I asked Dr. Pacifici why so little research has focused on HD and diet and whether it should.

“It doesn’t surprise me that people are curious about this,” he said, citing the example of Lorenzo’s Oil, a nutrition-based treatment developed for adrenoleukodystrophy, a deadly genetic brain disorder rarer than HD.

“In fact, we’re very careful,” he said of CHDI’s mission. “One of the reasons we say that we’re trying to accelerate ‘therapies’ for HD – we don’t say accelerate ‘drugs’ – is because we don’t know what shape that therapy could take. We want to be deliberately inclusive. In fact, I wouldn’t even limit it to diet. I would say ‘lifestyle.’”

He recalled the research of Jenny Morton, Ph.D., who works with transgenic HD mice and sheep. Dr. Morton observed in an experiment that HD mice had erratic sleep schedules – as do HD-affected people. She placed them with normal mice, giving them sleeping and wakeup pills, and gave them things only at night, a mouse’s normal time for activity.

“She was able to show that those mice now absolutely were back to their regular rhythm – they had no choice – and actually it was very beneficial for them,” Dr. Pacifici noted. “They actually even lived longer.”

Keeping our eye on the ball

With the advent of historic clinical trials such as the Roche Phase 3 gene-silencing program, “we’re at a stage now where there are some unbelievably compelling drug candidates,” Dr. Pacifici remarked.

“I guess the question we have to ask ourselves is: how much do we want to take our eye off the ball?” he asked. “Imagine how tragic it would be if there was something that collectively we, with CHDI’s involvement, could do to make those things successful and we were distracted with something else that had much lower probability of success.”

The HD community needs to “discipline” itself to focus on the “very best” possibilities for treatments and avoid “diluting our efforts the way we did in the old days” and “detracting resources.”

For a disease as complex and devasting as Huntington’s, there are no easy answers. The HD community – affected families, scientists, advocacy organizations, foundations, and our supporters – must continue the hard but brave march towards therapies.

CHDI: many 'irons in the fire' in quest for Huntington's disease therapies from Gene Veritas on Vimeo.

To take, or not to take, unproven supplements in the fight against Huntington’s disease

Should people facing Huntington’s disease take creatine and other supplements to relieve or prevent symptoms?

I do.

I saw HD inexorably destroy my mother’s ability to walk, talk, and care for herself. She died eight years ago this month. I tested positive for HD in 1999 and since then have worried daily about when it will strike.

There is no treatment to slow HD’s devastation of the brain. So I’ve been open to taking supplements that might help.

In early 1996, just shortly after learning of my mother’s diagnosis, I started taking coenzyme Q-10 (Co-Q), a vitamin-like substance found throughout our bodies and seen by researchers as a possible way to help remedy the energy deficits suffered in HD.

In 2004, when Dr. LaVonne Goodman introduced a “treatment now” regimen and clinical trial of safe supplements that had shown promising results in animal testing, I jumped at the chance to participate. I was the only presymptomatic individual in the small, three-year study, run under the auspices of Dr. Goodman’s Huntington’s Disease Drug Works (HDDW).

Starting in 2005, I introduced the supplements into my diet in steps. I worked up to a daily routine in which I took 75 grams of trehalose, a sugar that seems to help the brain clear cellular debris; 600 mg of medical-grade Co-Q; two g of omega-3 oil; two g of blueberry extract; and ten g of medical-grade creatine. The trial paid for and delivered the supplements.

The trial did not show significant improvement for any of the symptomatic participants. “The only thing that appeared to be helpful was trehalose,” Dr. Goodman said in a February 9 phone interview. Today, almost a decade later, the supplements remain medically unproven to affect HD.

Nevertheless, scientists still think that trehalose, Co-Q, and creatine might still provide help in treating HD. Since the end of the HDDW, I have continued to take all of the supplements, spending about $2,000 per year. In fact, several years ago, relying on medical advice, I roughly doubled my daily intake of creatine to about 20 g.

I get semi-annual blood tests to monitor potential kidney damage, which creatine can cause. I also drink plenty of water throughout the day to prevent dehydration, which can occur at doses higher than 10 g. Creatine also can cause weight gain.

Am I wasting money and endangering my health?

I don’t think so. A few years ago, one of the doctors at the local Huntington’s disease clinic told me to stay on the supplements, observing that the combination of substances might be helping to delay my HD onset. I inherited the same degree of mutation as my mother, but, at 54, have passed the age of her onset.

The yin-yang of supplements

Whether others in the HD community should take creatine and other supplements is an individual choice ideally made in consultation with a doctor.

During our interview, the Seattle-based Dr. Goodman reviewed the pros and cons of taking creatine.

She cautioned against taking high doses of the substance, because more serious side effects occur at higher dosage, and urged people to consult a physician before starting any supplement.

She stressed that people need to understand the “yin-yang” involved in the decision to take supplements.

“Yes, you want to take care of yourself,” Dr. Goodman said. If they do nothing else, supplements can at least furnish a “very important” placebo effect and the prospect of hope, she said.

Dr. LaVonne Goodman (photo by Gene Veritas)

The placebo effect is a “real” phenomenon, she observed. “If you could bottle it, it would be great.”

However, taking supplements also reminds asymptomatic gene carriers of their risk, she added.

More importantly, people’s use of supplements could also obstruct the path to other, potentially far more promising treatments, she said.

The benefits of supplements “need to be counterbalanced with the need to test promising new drugs, or we will never have better treatments for Huntington’s,” she explained.

Interfering with clinical trials?

“There are so many competing interests here,” Dr. Goodman continued. “We all want to believe that (creatine) is helpful, because it’s available, and we can take it, so why not do it, we say. This is what I said with HDDW trials. Well, yes, but it needs to be measured. Otherwise, we’re going to know nothing more than we did.”

“It is important for people to know that if they take these things, they can’t be in clinical trials at the same time. We deplete our clinical trial participant base, which is going to impede progress for finding better treatments. There’s the yin-yang. And people need to hear both.”

However, Dr. Goodman noted that individuals could do both: to become eligible for a clinical trial, individuals could clear the supplements out of their system so that they don’t interfere with the measurement of the tested drug’s effects, then resume the supplements after completing the trial.

I would stop taking my supplements in order to qualify for a trial, although until the most recent creatine trial (see below), practically every trial has targeted only symptomatic individuals.

Dr. Goodman underscored the need to treat creatine and all other supplements as “medicines.” Supplements should meet USP (U.S. Pharmacopeial Convention) standards, she added. The HDDW website contains information on supplement safety. Further information on supplements is available at Huntington’s Disease Lighthouse Families.

(I buy my creatine from my local GNC outlet but plan to search for a better grade of the product.)

All drugs, including FDA-approved ones, produce side effects and can affect individuals differently, Dr. Goodman noted.

Regarding creatine, she concluded: “If it’s not watched closely, it may cause more harm than good.”

A historic trial

People in the HD community became excited about creatine as a potential treatment after Harvard University’s online news service on February 7 published an article titled “Nutritional supplement slows onset of Huntington’s.”

According to the article, a team of researchers based at the Harvard-affiliated Massachusetts General Hospital had finished a historic Phase II clinical trial that produced MRI scans showing evidence of the slowing of brain atrophy (shrinkage) in HD gene carriers who have yet to manifest the classic symptoms of the disorder. Sixty-four people took part.

Participants took up to 30 g of creatine per day.

According to Steven Hersch, M.D., Ph.D., the trial, called PRECREST (Creatine Safety and Tolerability in Premanifest HD), was a “huge step” for three reasons – including its impact on a separate creatine trial for symptomatic patients called CREST-E (Creatine Safety, Tolerability, and Efficacy in Huntington’s Disease)

“One, it’s the first therapeutic trial that has tried doing prevention,” Dr. Hersch, the study’s senior author and a long-time HD researcher, said in a February 11 phone interview. “Two, because we created a design that let anybody participate who’s at 50% risk, as well as those who have tested positive. And three, the imaging finding increases the probability that CREST-E will show a clinical benefit.”

Dr. Steven Hersch (photo from HDSA website)

Currently in progress and still recruiting participants, CREST-E is a phase III trial – the final step before drug approval (click here to learn how to enroll).

The PRECREST administrators recruited untested at-risk individuals who were then tested for the purposes of the trial as well as individuals who already knew that they have the HD mutation. However, those who entered the study untested did not receive their results, which were only known to the statistician. Thus, they avoided the potentially traumatic psychological aftermath and remained protected from genetic discrimination.

“The ethical challenges for those recruiting and conducting trials include how to accommodate nontested at-risk individuals while preserving a noncoercive choice regarding genetic testing,” states an editorial about PRECREST in the March 2014 issue of the prestigious journal Neurology, adding that “unequivocal changes” occur in the brain of presymptomatic individuals “15 to 20 years before conventional clinic-based diagnosis.” An article on PRECREST by Dr. Hersch, lead author Herminia D. Rosas, M.D., and nine other collaborators appears in the same issue.

For these and other reasons, 90 percent of at-risk individuals choose not to test, Dr. Hersch explained.

The MRI changes and other data from PRECREST will eventually be assessed in CREST-E, Dr. Hersch explained. CREST-E is also doing MRI imaging. With nearly 600 participants so far, it will be large enough to show whether the benefits shown in PRECREST images correspond to a significant slowing of HD.

Avoiding false hopes

As with many news articles about clinical trials and other scientific experiments, the Harvard report’s headline, which claimed the supplement slowed the onset of HD, inaccurately reflected the researchers’ results as reported in the actual scientific article.

“While slowed atrophy suggests that creatine could slow preclinical progression, the potential clinical impact of these findings on delaying the onset of HD is unknown and must be defined by an efficacy study designed to measure it,” the Neurology article states.

Nor can the public buy the high-quality creatine used in the study, as it’s prepared specially for clinical trials.

“I don’t want people to take from this study that they ought to go running out and take a bunch of creatine or take it at these doses,” said Dr. Hersch. “Even though the imaging benefit is very exciting, we don’t know what it means clinically. It doesn’t provide the evidence that would lead me to recommend that people take it. The high doses that we used should also not be used without medical supervision.”

As noted in the Neurology article, some PRECREST participants suffered stomach upset and diarrhea caused by the creatine. About a dozen people had to drop out of the study.

Regarding the study’s clinical significance, Dr. Goodman offered an assessment similar to that of Dr. Hersch.

The widely read HD research website HDBuzz.net also weighed in.

“How much hope and how my hype?” an HDBuzz article asked. While recognizing the importance of the study, it pointed out that the causes and effects of the slowed shrinkage in the brains of the PRECREST participants need further study.

“It’s possible that creatine causes HD brain cells to bulge or swell without making them healthier,” it states. “Swelling like that could produce false optimism and might even be harmful. That’s not something this trial can tell us either way, because the patients weren’t followed long enough to see whether creatine treatment delayed the onset of symptoms.”

“The participants in PRECREST who took creatine but did not have the HD mutation did not experience any brain swelling, so this is an unlikely explanation for our findings,” said Dr. Hersch. “Including and treating these subjects was very unusual. However, we did so to allow us to answer questions like this.”

Awaiting the Holy Grail

“HD researchers face a major challenge in finding a treatment for the pre-manifest,” I wrote in 2011. “It’s really the Holy Grail not only for HD, but also for other neurological diseases such as Alzheimer’s in which brain damage occurs many years before symptoms appear. Ideally, researchers want to design medications that will completely prevent these diseases.”

The Neurology editorial used the term “Holy Grail,” too, in noting how the PRESCREST study “investigates a potentially neuroprotective agent designed to delay disease onset.”

The word “potentially” is key.

As Dr. Hersch explained, the PRECREST findings about slower shrinkage “suggest” that creatine provides a benefit, but they don’t permit researchers to say anything about delayed onset of symptoms in presymptomatic individuals or a longer lifespan for patients.

It remains for the CREST-E Phase III trial to produce similar brain scan results – and an actual effect on symptoms.

“If CREST-E shows efficacy in slowing down the disease in people who are symptomatic, I would think that most people would think that you may be slowing down the disease in people who aren’t symptomatic yet as well,” he said.

Until treatments become available, presymptomatic gene carriers like me will continue to face the extremely difficult decision about whether to take supplements.

I’m grasping at creatine and other supplements in the hopes of delaying onset until researchers succeed. 

S.O.S. for Huntington's disease families, and an important bill in Congress

Huntington’s disease ravages the brains and bodies of its victims, usually leaving them utterly dependent on others. Whereas a child matures, an HD patient regresses.

As a result, HD families face enormous caregiving and financial burdens, ones that neither governmental agencies nor disease organizations yet adequately relieve. (A pending bill in Congress, as described below, could help significantly.)

From the time of my HD-stricken moster's apparent early symptoms in the late 1980s until her death in 2006, I watched her lose the ability to walk, converse, and eat.

Fortunately, my “HD warrior” father could care for her. Ten years her senior, he retired around the time that she began to need full-time care. She mainly sat at home, rode around with him in the car, ate with him at restaurants, and attended Sunday Mass. They did slow walks around the local indoor mall, first with Dad helping support her so that she wouldn’t fall, then with her using a walker, and finally with her in a wheelchair.

At home, Mom started to fall more frequently. Once she broke a wrist. Another time she hit her head on a piece of furniture, opening a gash that required five staples. In August 2005, we agreed to put her in a nursing home.

Until that point, my parents had gotten by financially on their modest retirement savings and Social Security.

They had enough money for several years of care at the nursing home, but the monthly nursing home bills of several thousand dollars began to rapidly deplete their savings. They would have to spend virtually every penny before she could qualify for Medicaid.

Her death cut short the need to seek public assistance. My father lived almost four more years, able to survive on his savings and Social Security.

Worries about the future

Now my family also faces potential financial difficulties.

In 1999, I tested positive for HD. Now, at 51, I have reached my mother’s age of disease onset. I am doing my best – via exercise, meditation, and supplements – to stave off symptoms. Still, when those symptoms inevitably start, I could lose my job, causing a dramatic drop in family income. Frugality has long been the name of the game in our home.

To prepare for the worst, in recent years we have built a Huntington’s disease “war chest” by saving between 15 and 20 percent of our income. Our daughter turns eleven next month, so we’ll also need to tap those funds for her college education.

Once I become symptomatic, we will have to apply for Social Security disability and Medicare benefits.

Inadequate nursing homes

Often I am painfully reminded of my family’s situation and the urgent need for financial and caregiving assistance for our HD families.

Recently, my fellow HD advocate Frances Saldaña of Fountain Valley, CA, unburdened herself to me about her family’s struggles.

Frances’s first husband died of HD, and her three children developed juvenile Huntington’s disease. Her youngest child, Marie, died in late 2009 at the age of 32.

Michael, 38, lives in a care facility in the infamous, crime-plagued Los Angeles neighborhood of Watts, far from Fountain Valley, which is in Orange County.

“It’s the only place that would take him,” Frances told me over the phone after we discussed advocacy for the Huntington’s Disease Parity Act of 2011, a bill in Congress that would make it easier for HD patients to obtain Social Security and Medicare benefits.

In Orange County, all of the care centers she approached refused to take in Michael because of their inability to work with HD patients.

“‘They require too much work, and we don’t have the staff,’” Frances explained, quoting the comments of care administrators about HD patients.

Frances says these facilities are violating the law by refusing to live up to the contracts they sign with the State of California, which prohibit discrimination against patients in facilities that receive Medi-Cal funds (the name for Medicaid in California).

To my knowledge, nobody in the HD community has had the time or expertise to seek redress from the state.

A family drained by HD

I met Frances’s oldest child Margie Hayes when the mother-daughter team advocated for HD stem-cell research at a meeting of the California state stem-cell agency in December 2007. Margie already had noticeable symptoms such as chorea (shaking and trembling), although she could still speak clearly. Everybody in the room was moved by their presentation.

Margie Hayes (right) speaks at California stem-cell meeting in 2007 as mother Frances Saldaña looks on (photo by Gene Veritas).

Now 41, Margie struggles with her worsening symptoms. For more than a year, Frances and other relatives have pooled resources to hire a private caregiver to watch over Margie eight hours per day. Because Margie is not her legal dependent, Frances cannot deduct her contribution on her tax returns.

“Her husband is so drained,” Frances said of Craig Hayes’ attempt to care for his wife at their home. “He doesn’t have the energy to do this anymore. He quit his job in Huntington Beach, which paid a lot more, so he could be close to Margie and the kids.”

Craig comes home at midday to give Margie her medications and feed her lunch.

“Not very many men would put up with this," Frances said. "She gets feisty and has behavioral issues when things don’t go her way."

Losing control

On one occasion, Craig had to hold Margie to prevent her from running out of the house, Frances told me.

“She’s totally disabled,” Frances continued. “She can’t talk anymore. She’s just mumbling. She can’t walk without anybody holding on to her. She has grimacing on her face. She refused a wheelchair.” The family must chop Margie’s food into small pieces so that she can safely swallow it.

In early April, Margie fell in the bathroom, slicing her skin open on a metal rail. She required 30 external and internal stitches. Yet, according to Frances, the emergency room personnel missed another laceration on the crown of Margie’s head. Only later, when the home caregiver was brushing Margie’s hair, did that cut become apparent. A crust of dried blood had formed, causing it to heal on its own. Luckily, Margie didn’t fracture her skull or have internal bleeding, Frances said.

The battle for Social Security

For years, Frances has championed the cause for improved facilities for HD patients in California, but to little avail. The family again faces the extremely difficult challenge of finding a care facility, this time for Margie.

Despite her advanced HD, Margie has not gotten Social Security disability payments. According to Frances, Craig became too overwhelmed to successfully complete the long and bureaucratic application process. Frances, too, feels overwhelmed and wishes she had more time to devote to the matter. Those funds would help defray the cost of Margie’s care.

She pointed out the need for the Huntington’s Disease Society of America (HDSA) to provide legal services for people in her situation.

After seeing three children devastated by HD, Frances is anxious about her grandchildren, who have not been tested.

“The clock is ticking,” she told me. “These kids are getting older. If they have the mutant protein, we still don’t have a treatment. The research has to move faster.

“I gave up on the care being there for my children about four or five years ago. My goal now is to make them comfortable. I hope to God that my grandchildren are not carrying it.”

Losing a home

James Valvano, a 39-year-old Florida patient with early symptoms, has received a doubly harsh dose of HD reality: he lost his business – and now his home. James has produced an important film on HD titled The Faceless Faces of Huntington’s Disease (click here to read more).

“My partner and I lost our home (of 14 years) and have moved in with my parents,” James wrote me a couple weeks ago. “Although something of this magnitude would normally ‘crush’ someone, we have decided to look at this in a positive light.

“Since my diagnosis in 2009, and the fact that I had to let my small business go, financial burdens continued to become overbearing.We will be fine, and I believe there is a reason for everything. I have to apologize for not getting back with you (let alone keeping in touch), however I became overwhelmed by life's curve-balls, and the simple fact that we were struggling to stay afloat."

James has tried to find the bright side. “The saving grace to all of this is the wonderful people within our … community, and my Film Team," he wrote. "I was not willing to let financial hardship destroy what we had worked on for two years ... nor was I going to let the anxiety and depression drown me.”

James Valvano (personal photo)

James receives Social Security disability income and, with the standard two-year waiting period about to expire, will also get Medicare benefits. (The above-mentioned HD Parity Act would eliminate that waiting period.) James’s partner was let go from his job at British Petroleum. For a number of months the couple tried to get by on just $1,000 a month.

“It came down to not having enough money to pay the mortgage, and the mortgage company would not work with us to refinance the house at its current value,” James continued. “We had a lawyer who was keeping them ‘at bay,’ but due to financial (constraints), we were unable to continue to pay him (the lawyer). So, we just decided to pick up and leave.”

Too big a hole to fill

In situations like those faced by Margie and James, HD families often have nowhere to turn.

“Why in this world is there no organization out there to financially set up or give help to HD families?” one woman lamented in an HD discussion group on Facebook.

In an interview on May 19, I put this question to Louise Vetter, the CEO of the Huntington’s Disease Society of America, based in New York City.

“The Board (of Trustees) has actually talked quite a bit about it, because it is something that I’ve heard from the day that I joined,” said Louise, now in her third year at the HDSA helm after nine years working for the American Lung Association. “Certainly the financial impact of HD is unique and particularly devastating.

“Unfortunately, it’s a hole that we just can’t fill, due to our (limited) resources and the overwhelming financial need. How would we choose that somebody’s rent is worth paying and somebody else’s isn’t? It really comes down to that. The board has struggled with this and felt that we cannot be a financial service organization at this time and still meet the other needs of our mission.”

HDSA’s annual budget is approximately $8.5 million, with roughly one quarter going for administration and fundraising and the rest for education, research, and the local Centers of Excellence for Family Services and Research.

The organization continues to rely mainly on affected families for its donations.

“There are a lot of smaller foundations that will provide support in specific communities,” Louise continued in reference to the dire needs of HD families. However, most national health non-profits do not provide such assistance.

May 31: HDSA’s call-in day to Congress

So, for now at least, HD families must depend on public assistance.

Louise pointed out that HDSA staff members can assist family members with questions about government benefits such as Social Security and Medicare. HDSA’s number is 800-345-HDSA (4372).

To help get benefits faster into families’ hands, HDSA and its many volunteer advocates in the field are making a big push to pass the HD Parity Act.

As of May 27, 2011, 67 members of the House of Representatives and four Senators had co-sponsored the Act.

In mid-May, HDSA announced the key support for the bill from Sen. Charles Schumer (D-NY), who is a member of the powerful Senate Committee on Finance and its Subcommittee on Social Security, Pensions, and Family Policy.

On Tuesday, May 31, HDSA is sponsoring a national call-in day. The organization requests that all HD families, friends, and supporters call uncommitted senators and representatives and urge them to co-sponsor the bill.

To learn more, click here. Also watch the interview on the bill that I conducted on May 19 with HDSA advocacy manager Jane Kogan.

HDSA's Jane Kogan: Time to Contact Congress on Huntington's Disease Parity Act from Gene Veritas on Vimeo.

S.O.S. HD

The call-in day is the HD community’s S.O.S. to Congress and the country. Families like the Valvanos and the Hayeses need our help. Because their burden is so huge, society needs to lend a hand.

Passage of the HD Parity Act of 2011 would provide a tremendous boost to HD families and the cause in general.

Remember: please call your representative and senators on May 31!