Fighting for the option to care for Huntington’s disease patients at home

With the woefully inadequate care that some nursing homes have provided to Huntington’s disease patients, a number of HD families have fought hard to create alternatives.

Few embody the fight for quality care better than Raima and Mike Fernald of Saco, Maine. They have twice advocated for bills in their  state legislature to improve the predicament of Raima’s two HD-stricken sons, John Irving III and Chris Irving, fathered by her first, HD-affected husband, John Irving, Jr.

Both sons died in Raima’s arms – Chris in March 2012 at 37 and John last month at  39 – after a long and painful struggle by the Fernalds to overcome bureaucratic inertia and bring them to the couple’s home in Saco, a coastal town south of Portland.

“That was my whole goal, having them come home,” said Raima, 55, whom I interviewed at length twice last week. “I did not want them to die in a strange place or different place. Their father died in a hospital. Nobody really knew where he was. I found out only a few days after he died because a newspaper reporter was doing an article and was compelled to find me.He died alone and I could not let that happen to my boys.”

Though HD dramatically shortened their lives, John and Chris helped establish an important legislative legacy in Maine.

In 2007, together with other advocates, the Fernalds successfully pushed for passage of An Act To Prevent Inappropriate Transfers of Residents of Nursing Facilities.

Even as they mourn their double loss, the Fernalds are now advocating for a pending bill, LD 488, An Act to Improve Access to Home-based and Community-based Care in the MaineCare Program. (MaineCare is the state’s Medicaid program.)

“We’re very supportive of the bill,” said Louise Vetter, the CEO of the Huntington’s Disease Society of America, noting that the society reviewed the legislation “to make sure it was strong” and “doesn’t have loopholes that could negatively affect families down the line.”

According to Vetter, LD 488 is the “best current example” of advocacy to facilitate home-based care for HD patients. The bill is “unique in terms of the issues and the involvement of the Maine Affiliate” of HDSA.

“There is evidence that home-based care is more efficient in overall cost savings and effective quality of life,” Vetter noted.

However, she added that the country is currently in a “wait and see” mode about the future of home-based care because the Patient Protection and Affordable Care Act (Obamacare) has yet to take full effect. The act supports home-based care, but lacks clarity on implementation, which will take place at the state level, she said.

Raima and Mike Fernald (family photo)

Exorbitant but inadequate care

From about 2003 to 2007, Chris spent time in four different institutions in another state, Raima said.

“They had no place in Maine to care for him, because Chris was considered to be a high-risk liability because of trying to kill himself,” Raima explained. “Because of his behaviors, no one wanted to take him.”

Raima said the care was inadequate in all of these institutions. She recalled her very negative experience at the last one, where Chris spent the longest period, about 16 months. She said she observed blood smears on the bathroom wall, which she attributed to the apparent lack of dental care; bursitis on Chris’s knee; ripped clothing on Chris; and food on the floor.

“I had to go in and shave him,” she said. “I had to go in and cut his hair. I had to do all of that. He looked horrible. I even have pictures. The hygiene on him was not good.

“We heard that the cost of his care was more than $300,000 a year, because he was shipped out of state. That was told to us by the Department of Human Services. That’s why they finally stood up and listened to us. They knew they were spending too much money. The care was not being overseen for that kind of money!”

According to Raima, the Maine Department of Health and Human Services claimed that, despite the large sum spent for Chris, it could not afford to send anybody to evaluate his care.

“That’s sheer stupidity,” she said, adding that she kept detailed notes on her sons’ care, including the information about the out-of-state costs.

Attorney Jack Comart, the litigation director for the non-profit legal aid provider Maine Equal Justice Partners, confirmed the high cost of the out-of-state care. In his recollection, the annual cost for Chris exceeded $350,000. He said that the cost per individual in the Maine group care home later occupied by Chris and John was $140,000 a year. Once they came home, the costs dropped even more – to just $52,000 per person, according to Comart, who has assisted the Fernalds and advocated for the legislative bills

With the passage of the Inappropriate Transfers bill, some 25-30 outsourced Maine patients with various conditions returned to the state, where they could be closer to their families, Raima said.

Chris entered a group home in 2007, and in 2008 John joined him.

Trying a group home

Located in Saco, the group home represented a significant improvement for Chris. John also moved there. Caregivers trained for this specific assignment watched over them 24/7.

“They were the only two clients in that group home,” Raima explained. “This particular group home was put together from the bill that was passed.”

Above and below, Chris Irving (left) and John Irving III (family photos)

Even so, problems developed.

“Some of the care was okay, but some of the things were ridiculous,” said Raima. “Things did happen there, too, that told me that they were not paying attention.”

At 5 one morning, even with two caregivers present, Chris escaped from the facility. Because he was “falling all over” and his “shoes were half on,” a woman thought he was drunk and called the police, who took him to the hospital, where he spent several days before returning to the home, Raima recalled. In late 2010, John became severely dehydrated and nearly died.

A bureaucratic bias against the family home

After several years in the group facility, and with the worsening of the men’s symptoms, the Fernalds became convinced that bringing them home was the only way to provide proper care and a life of dignity.

However, in reviewing patient needs, the Maine Department of Health and Human Services determined that the state – despite having spent much more money for the group home and for the out-of-state facilities – would pay for only a limited number of caregiver hours at the family home.

In 2007, for instance, Chris would have qualified for only 15-20 hours per week, making it virtually impossible for him stay at home, because Raima had a job, usually working as a secretary or bookkeeper. With so few home care hours, the family had opted for the group home.

According to Comart, the systemic bias against the family home stems in part from the state’s goal of protecting patients from abuse at home and assuring that they receive professional care.

“They assess them differently if they come home or if they’re in a facility,” said Raima. “That’s wrong. Their needs don’t change.”

In late 2010, with a reevaluation of their more serious medical condition, the men qualified for 59 caregiver hours each.

“That was at least something to work with,” Raima said. “But I’d still be doing a lot of it myself. I quit my job to take care of them. I didn’t have to. But I did because at this point, with them being in facilities and group homes, I wanted to be the one to oversee the care.”

On February 27, 2011, John and Chris came to live in the Fernalds’ basement, which Mike had turned into a bedroom using several thousands of dollars in assistance from a charitable organization, Motivating Miles.

Raima, Mike, and/or caregivers attended to the boys 24/7.

Raima shaving Chris at the Fernald home (family photo)

“I actually lived there for two years,” Raima said. “Mike lived upstairs alone. I slept on the couch. John and Chris had their own beds. A caregiver would come every day. Each one had a caregiver all day long.”

Earning $10 an hour, Raima received money for 40 of the 118 total hours allotted for Chris and John. Professional caregivers covered the other 78 hours, paid at the same rate.

To qualify as a paid caregiver, Raima paid $250 to take a 60-hour class that certified her as a personal service specialist and became an employee of the same home healthcare company that provided the other caregivers, she said.

That still left 50 hours – two full days – of uncovered care, which, of course, fell back on the family.

“I still had to be here 24/7,” said Raima. “There always had to be two while they were here. After Chris passed away, there was only 59 hours left. I could do 40, but got only 19 hours of outside help.”

Advocating for home-based care

With Mike also helping care for the two brothers, the Fernalds conceived and advocated for LD 488, the Home-based and Community-based Care act.

“We couldn’t deal with the fact that John and Chris would get so many hours in a group home, but at home fewer hours,” Raima said. “We were very unhappy with that the whole time they were home. We didn’t have enough help.”

Agitated and irregular sleep is a symptom of HD, so care became especially difficult when both men walked around their room at night.

“We fought to get more hours,” Raima said.

As amended, and if passed and signed by the governor, LD 488 would initiate a program to benefit 25 Maine patients, who would receive for home care up to 25 percent more than the maximum allowed for home care, which, as noted above, is currently $52,000. With the supplement, the total for home care could be as much as $63,000.

In 2011, the local newspaper featured the family's fight against HD (family photo).

The bill states that additional funds will become available as long as Maine’s Department of Health and Human Services “determines that such additional services are medically necessary, are likely to delay or prevent the institutionalization of the person and are not likely to result in the cost of services under the waiver for that person exceeding the estimated cost of comparable services in a nursing facility for that person.”

For the program in fiscal year 2013-2014, the bill projects $93,265 in spending from the state’s general fund and $150,916 from its federal expenditures fund.

Because part of the funding is from the federal Medicaid program, the state would have to obtain approval from the federal government, said attorney Comart.

Under federal Social Security legislation passed in 1983, any state can apply to expand home-based care.

Testimony from the HD community

On March 7, 2013, Raima, Comart, and ten other individuals offered personal or written testimony in support of the bill before the Committee on Health and Human Services.

“Not all people will want to, or be able to care for their loved ones at home, just as not all families should be allowed to, but the ones that can should receive more help to do so,” Raima stated. “Right now the State spends an enormous amount of money to send people out of State and in State nursing homes at a considerably higher cost that they would spend if they provided more fairness and flexibility in the current MaineCare program to allow willing family members to care for their loved ones. Many people will not do so because they cannot financially do so. The current program is unfair to consumers and their families, and it creates an unfair incentive to put loved ones in facilities, group homes, nursing homes, and at a greater cost to the State.”

“No one can care for a person with HD at home without a huge amount of financial, professional, and physical support,” stated Nancy Patterson, 55, the chairperson of the HDSA Maine Affiliate. LD 488, she added, would provide an affordable option for families to keep their loved ones at home and “alleviate the financial, social, and emotional strain” caused by HD.

Assessing the bill and its chances

The bill unanimously passed both the Maine House and Senate. However, because the bill would require increased state spending, it must pass muster at a joint House-Senate appropriations committee before going to Republican Governor Paul LePage.

Comart, however, is skeptical about the chances for the bill’s passage.

“I’m not confident in the end they’ll adopt it,” he said. “It’s sort of a shame. It’s not a lot of money to fund it…. We have a big budget deficit. We have a Tea Party governor. He cut taxes mostly for the wealthy last year. That created a big budget deficit. That’s being funded by lots of cuts in programs.”

LePage has vetoed many bills, including some that don’t include increased spending, Comart added. LePage has not yet stated a position regarding LD 488.

Like Vetter, Comart noted that LD 488 resonates with a national trend towards home- and community-based care stimulated by the passage of Obamacare. This trend goes against the “bias” in the Medicaid program in favor of putting people in institutions, he added.

“It’s been an issue for a while,” Comart said. “People generally don’t want to go in nursing homes. They want to stay in their home.”

However, even though LD 488 and home-based care in general represent savings in the long run, the fiscal stress of both the federal and state governments makes it “really challenging” to move in that direction, Vetter said.

In Maine, which has the nation’s tightest nursing home eligibility standards, there are waiting lists for some nursing homes, Comart said. To the extent people move into community or home care, the state would not save money it beds are filled off a waiting list, he explained.

Engaging in the public process

Comart called for Maine families to support the bill.

“Families need to get as involved as they can in this public process,” he said. “ I know it’s hard to go to legislative hearings, but it does make a difference for legislators to see and hear from families facing these problems.”

Comart pointed to the example of the Fernalds, who have raised HD awareness in other ways, including the publication of a children’s story about the disease.

Above, Mike (left) and actor Chuck Norris during a Mike Huckabee presidential campaign event in 2008. Below, Mike in a clown costume. Mike advocates for HD whenever he can. (family photos)

“They’ve been great advocates,” Comart said. “They’ve been out their publicly. They come to the public hearings. They send out e-mails about things. They met with the governor. They’ve done everything on top of caring for their two sons. It’s pretty amazing.”

“People need to not take no for an answer,” Raima said. “If you’re talking to one person and not getting anywhere, go see someone else.”

She added: “We all have to step up to the plate and fight for our HD loved ones.”

Strangling of patient in nursing home a shuddering reminder of subpar care for Huntington’s disease

The strangling and serious injury of a 49-year-old, late-stage Huntington’s disease patient at an Oregon nursing home has shocked the HD community and provided a shuddering reminder of the subpar care, fueled by ignorance and approaching neglect, that some affected by the disease face.

Anne Haskins was allegedly strangled by another patient who used  a call cord ripped from the wall after Haskins, wheelchair-bound and cognitively disabled, wandered into the other woman’s room shortly before 9 p.m. PDT on May 28, said Rebecca Ambrose, 29, Anne’s daughter.

There’s no evidence Anne deliberately provoked the other patient, whom police described as suffering from “severe dementia,” but her HD chorea – the involuntary movements typical in HD – means she can inadvertently hit people with her arms.

Anne was taken to Bay Area Hospital, located in Coos Bay, OR. After the attack, her heart rate dropped to the dangerously low rate of around 30 beats per minute, said Rebecca in a phone interview on May 30.

Anne is currently in the hospital’s cardiac unit. Doctors offered the option of a pacemaker, but the family decided against one because they believe it would simply help to prolong suffering, Rebecca said.

“She may have lost too much oxygen to the brain to recover from this,” she added.

The incident took place at Avamere Rehabilitation of Coos Bay, a private facility where Anne has resided since August of 2009.

Anne Haskins, grandson Andrew, and dog Scarlet, about ten years ago, before HD left her unable to speak and care for herself (family photo)

‘Where was the staff?’

According to the Coos Bay police, the alleged perpetrator is under observation in the psychiatric ward at Bay Area Hospital. Avamere has prohibited the alleged perpetrator from returning to its facility, Rebecca added.

“Where was the staff???” Rebecca exclaimed in several private Facebook HD discussion groups. Rebecca agreed to allow inclusion of her Facebook comments in this article.

On the night of the attack, the certified nurses assistants (CNAs), the main caregivers at the facility, should have put Anne to bed by 7:30. However, she was still moving around in her wheelchair around 9. No CNA noticed that she entered the other woman’s room. A CNA came upon the injured Anne sometime later, said Rebecca.

The police received a call for help at 8:49 p.m. According to Officer Randy Sparks, the lead detective on the case, a nurse, responding to the call alarm from the room, intervened to assist Anne.

“It just makes me angry,” Rebecca said. “I felt that it could have been foreseen. It makes me angry to think that my mom could be killed, and neither the person who did it nor the nursing home could be liable for it.

“How could one bedridden patient strangle another bedridden patient and no CNA have a clue? There were five CNAs on the floor, according to the director of the home.”

According to Deborah Nedelcove, Avamere’s vice president of risk management and its chief compliance and privacy officer, 42 residents currently occupy the 90-bed Coos Bay facility.

Above, the strangulation mark on Anne's neck. Below, daughter Liz with Anne in Bay Area Hospital (family photos)

Detective Sparks has concluded his investigation and forwarded his report to the district attorney’s office. However, those authorities have already have informed Rebecca that criminal charges will not likely be filed because of the mental state of the alleged perpetrator, Rebecca explained.

The alleged perpetrator is not currently under arrest.

“The police can investigate if there is a criminal action by a patient,” she added. “They cannot investigate neglect by nursing home staff.”

Avamere’s response

Debbie Lane, the Avamere director of nursing, refused comment on the case, as did Britta Milius, the nurse in charge when I called the facility the evening of May 30.

VP Nedelcove, who works at the Wilsonville, OR, corporate headquarters of the 50-facility private company primarily doing business in Oregon and Washington, declined to comment on specifics of the case but offered some observations about the facility and Avamere’s policies, procedures, and philosophy.

“I have never heard of an incident like this,” Nedelcove, who has some thirty years’ experience in health care, said of the strangulation and Rebecca’s allegation of inadequate monitoring of patients. “This is an isolated incident. It was not expected. You can’t account for people who decide at a moment’s notice to do something.”

Nedelcove insisted that Avamere CNAs “definitely keep an eye on all of our residents all the time…. There are many residents in our facilities, and many of them have behavior issues.”

Avamere is conducting an internal investigation of the incident and, based on its conclusions, may alter procedures at the facility, Nedelcove added.

Seeking assistance

However, Rebecca has already contacted state oversight agencies and local media outlets.

She has also obtained assistance from the Northwest Chapter of the Huntington’s Disease Society of America (HDSA). However, HDSA cannot assist with placing Anne in a different facility because Anne, before symptoms worsened, had refused to give power of attorney to any of her relatives, preventing the sharing of medical information with an outside agency, Rebecca explained.

Rebecca posted pictures of her mother’s injury on the Avamere Facebook page, but the company removed them and then blocked her from posting additional images. She also placed a sign on the front door of the facility denouncing the strangling but doesn’t know if it remains.

Rebecca and other family members fought a hospital’s staffer's recommendation that Anne return to Avamere and will place her in a different facility, Myrtle Point Care Center.

Rebecca is also consulting private attorneys about potential legal action.

Denouncing neglect

“I’m really disgusted with this,” said Rebecca, a family advocate for a non-profit who tested negative for HD in 2006 and has identified some 50 descendants of an HD-stricken great grandmother who are at risk of inheriting the mutation. “I’ve told them I’m not going to be quiet about this.

Rebecca Ambrose (personal photo)

“I feel like I already have to be robbed of my mother. I feel a lot of times like I have to be the mother to my siblings and my child, and I have to take on a lot of what a grandparent would do, because my mom isn’t able to.

“I can still visit my mother. That’s being taken from me slowly. I didn’t expect my mom to be in a nursing home and have an incident that could cause her death. I always thought her disease process would cause her death. I understand that there are going to be falls out of the shower or the bed. But there’s no excuse for somebody to strangle my mother and for her not to be protected in facility that gets $80,000 a year to care for her.

“I’m livid and I’m horrified. My mom used to watch that movie One Flew Over the Cuckoo’s Nest. I hate that movie. It’s one of the saddest movies I’ve watched in my life. That’s the state of nursing homes in America today.

“I just want to talk to whoever is going to listen to me. This can’t happen to people –when you entrust someone’s life! My mom is in a facility for her own protection, not to be neglected. I can assure you that nobody in my home would strangle my mother. I wish there were options that were not for profit. These people do it for profit.”

Care providers: a mixed bag

According to Rebecca, in early 2012 a man visiting Avamere to see his wife became angry at Anne and tried to punch her because an employee had accidentally taken his chair to Anne’s room.

Anne also suffers from bed sores, and she sometimes does not get her spoon-fed evening meal until late at night, Rebecca said. The CNAs bathe Anne, left incontinent by HD, just once a week, which understandably leaves a patient uncomfortable.

“It’s really a mixed bag with the care providers,” Rebecca said, referring to the CNAs, the main caregivers but also the lowest rung in the nursing home hierarchy. “Some love and care for her and take the time to feed her and meet her needs. Others fear her and skip over her as a patient or try and put it off on somebody else.”

Rebecca said that she has witnessed CNAs taking as long as two hours to respond to a call for assistance from patients. Nedelcove said CNAs usually respond within minutes.

Because the law prohibits a patient from being restrained, the facility cannot legally set the brakes of Anne’s wheelchair, to which she is bound by two straps.

As a result, Anne bumps into other residents in the dining room, knocks over food, and inadvertently hits people with her arms because of her chorea. To avoid these difficulties, Anne takes her meals in her room, Rebecca said.

Many of the CNAs have few or no qualifications, Rebecca continued.

Nursing homes hire “anybody off the street,” she said, adding, however, that several good facilities exist for HD people in various parts of the country.

“It’s an entry-level job,” Nedelcove admitted, noting that it’s “not a glamorous field.”

“It’s a calling rather than a profession,” she said.

However, she emphasized that all Avamere CNAs receive academic and clinical training and are state-certified.

“Most of them come to us with a great deal of experience,” she said.

A criticism of public agencies

In 2009, Anne was sent to the nursing home to recover from an operation needed after her HD symptoms had caused her to fall and injure her brain.

For a while, Anne had hospice care, as her weight had fallen to about 90 pounds. However, after her diet and weight improved, she no longer needed hospice.

Public agencies will not fund the 24-hour home care that would serve as an alternative to placing the patient in a nursing home, Rebecca explained.

“They will pay the nursing home over $6,000 a month to pay for somebody to give such little attention to my mother that she could get strangled, but they will not pay for better care at the same rate in my home,” she said.

Grossly misunderstanding HD

CNAs, Rebecca said, need better preparation in order to take “care of our elderly and the most vulnerable in society.”

Those vulnerable include thousands of HD patients, who, along with their families, face enormous difficulties in finding facilities that understand the disease and will take in someone with HD.

Rebecca recalled her family’s encounter with a past director of nursing at Avamere.

“They usually deal only in comatose patients, not the kind that can call down the hallway,” she said. The nursing director told Rebecca that “my mother needed to stop calling down the hallway, because HD is not a crutch and my mom is responsible for her own behavior.” The nursing director stated that if Anne couldn’t control her calls down the hallway, she could be evicted from the home.

“If you even say the word Huntington’s disease, nursing homes don’t want to talk with you,” Rebecca said, noting that most facilities focus on young people who are developmentally delayed or on the elderly, thus missing the middle years, the period where most HD people experience onset of symptoms.

Rebecca worked to educate the Avamere staff about HD. She arranged for the facility's previous director to participate in HDSA-sponsored caregiving webinars. He passed on information about HD to many of the staff. This “gave them some enlightenment,” Rebecca said.

However, because of recent high turnover at the home, including the removal of that previous director, few current employees have knowledge of HD, she said.

HDSA’s response and recommendations

Staffers at the HDSA national office in New York expressed deep concern about the incident and are closely monitoring the situation in Coos Bay. However, HDSA cannot comment on the specifics of the case in order not to violate patient privacy.

HDSA urges families to carefully research facilities before placing a loved one. It provides a number of publications, articles, and other materials regarding long-term care on its national website.

It also offers free in-service trainings for long-term care facilities.

As previously reported, many in the HD community have asked HDSA to provide funding for care. However, with an annual budget of only $8.5 million, the organization could not begin to provide such assistance. Families must rely on Social Security, Medicare, Medicaid, and other government programs, as well as long-term health care insurance and other private insurances.

(In a future article: how segments of the HD community have strived to provide better care for patients).

Do we need to shock the world to strengthen the Huntington’s disease cause?

May is Huntington’s Disease Awareness Month. During this time, we in the HD community make a special effort to educate the public and our leaders about the untreatable, fatal genetic disorder that affects thousands of American families.

It’s also a time to reflect on the very meaning of awareness and how we build it.

In our media-saturated world, people often equate awareness with media exposure.

However, from my standpoint as an activist who has worked at all levels of the movement – from local volunteering to statewide stem-cell advocacy to global networking for the upcoming World Congress on Huntington’s Disease – I view the quest for media exposure as a necessary but hardly sufficient condition for awareness-building.

Disease and the public eye

Some recent news items highlight the importance of media exposure, its connection to awareness, and the potential drawbacks of over-emphasizing exposure.

The revelation by actress Angelina Jolie that she had undergone a preventive double mastectomy after testing positive for a breast cancer gene led a sufferer of a lesser-known disease, dystonia, to publish a commentary on the difficulties of building support for research for her condition.

“If I told you what my issue was, you would probably shrug and reply that you’d never heard of it,” wrote Allison Hersh London, the chairwoman of the Young Leadership Council at the Bachmann-Strauss Dystonia and Parkinson Foundation, in an article titled “Disease and the Public Eye” in the May 18 edition of the New York Times. “There aren’t any public service announcements about it or telethons. No Angelina Jolies to bravely inform the world. Just people like me, in supermarket checkout lines.

A movement disorder, dystonia causes involuntary muscle contractions resulting in twisting and repetitive movements.

“And this, I realize, is at the core of a problem that extends beyond me and my condition and that affects the way all of us respond to illnesses, some of which are the subject of public attention — and resources — and some of which are not.”

Sound familiar? It’s what the HD community said for decades. The only famous American to die of HD, Woody Guthrie, left us almost 50 years ago.

But now read what London says about HD:

“It’s odd to find yourself envying people who have diseases that get more attention than yours,” she wrote. “But I can’t help it. Dystonia is quite rare but, by some estimates, there are more people who have it than have Huntington’s disease, A.L.S. and muscular dystrophy combined. So the simple prevalence of an illness doesn’t explain why some illnesses are better known and better studied than others.”

Although recognizing that dystonia isn’t neurodegenerative or fatal, London uses the very same tactic of comparing disease numbers that some of us in the HD community – including myself – have used to justify more attention and research dollars for our disease.

What’s odd for me as an HD advocate is to see Huntington’s referred to in this manner. Despite HD’s occasional presence in the news and entertainment media over the past five decades, most people in the supermarket line still would say: “never heard of it.”

HD people do know about dystonia, however. In fact, before my mother was tested for HD in 1995, one doctor first thought she had that disorder. In addition, many HD patients do have dystonia as a symptom.

Citing a research study called the “Katie Couric Effect,” London affirms that a celebrity connection to a disease “can have a substantial impact on what the public does.”

London repeats what we’ve all heard: “Awareness generates funding, and funding generates research, which can lead to enormous life-changing differences for people who struggle with illnesses you probably haven’t heard of.”

Nevertheless, she concludes, “what’s most important is telling people about the disease” on an individual level.

‘I Wish My Son Had Cancer’

In England, Alex Smith, a father fighting to save his son Harrison from the fatal condition known as Duchenne muscular dystrophy, took out an ad in London’s Evening Standard.

The ad photo (above) could just as easily represent a parent from an HD family, like the one I took at last year’s HDSA national convention of little Kayden Bujnowski, at risk for developing juvenile HD, her HD-afflicted mother Heather Lewis, and her father Jason Bujnowski (see below).

However, in the case of Harrison, the parents and the ad agency headlined their ad with the words “I Wish My Son Had Cancer.”

“Harrison, my 6 year old, has Duchenne Muscular Dystrophy,” the ad states. “He’s one of 2,500 sufferers in the UK who’ll die from it, most before they’re twenty. Unlike cancer, there’s no cure and no treatment. And because you’ve never heard of it, very little funding either.”

"So far, the finished ad has received considerable support among other parents of children with Duchenne," journalist Meg Carter wrote about the ad, noting that people from far away as Brazil have donated a total running into the thousands of British pounds towards research for treatments. "However, some online comment on the charity's Facebook page has questioned the merit of, in effect, setting up different childhood illnesses in competition for donors' support."

As I wrote about Jolie’s preventive operation, people in the HD community would jump at the opportunity to reduce their level of risk for a disease that is 100% genetic and eventually strikes every carrier of the gene.

Indeed, we are desperate for treatments.

However, I cannot recall any instance in which a family or HD organization went to such extremes to generate publicity and funds.

Many forms of awareness-building

In seeking media exposure, we in the HD and other disease movements attribute to it an almost magical power to solve all of our problems and instantly bring the cure.

In the process, we can lose sight of the many other, equally important forms of awareness-building.

Practically everything we do in the fight against HD involves awareness-building: the doctor-patient relationship, informing people in our workplaces and community, and advocating in the public arena for such issues as stem cell research and passage of the Huntington’s Disease Parity Act.

Awareness-building requires relationship-building.

All of this is hard work. And it lacks the glamour of the fifteen minutes of TV fame or a 700-word newspaper op-ed piece.

Self-awareness first

The most important form of awareness-building takes place in our families and at the level of the individual affected by HD.

Because of the fearful symptoms and deep stigma associated with HD, so many of us hide in the terrible and lonely “Huntington’s closet.” The first step in awareness is to exit that closet and strive to build a family conversation about HD.

In our rapidly advancing biotechnological era, in which scientists have solved many of the mysteries of HD and opened the way to potential treatments, awareness-building also means confronting challenges such as genetic testing and grasping why it’s significant that we join research studies and clinical trials for defeating the disease.

It all begins with each of us. In building self-awareness with respect to HD, we can take the next big step of talking to a relative, joining a support group, visiting an HD clinic, and, when the moment is right, sharing our stories in the way that so many HD families do in the daily e-mail features of the Huntington’s Disease Society of America (HSDA) in May.

Deep pockets and working behind the scenes

It’s understandable that people with dystonia, Duchenne’s, or Huntington’s want to persuade or even shock the public into supporting their cause.

However, most of the process of fighting a disease takes place in physicians’ clinics and scientists’ labs. In America, a vast biomedical and pharmaceutical system discovers, produces, markets, and administers treatments. The politics and finances behind this system operate far from the public eye and, usually, media scrutiny.

In the fight against Huntington’s disease, the dogged determination and leadership of individuals such as Marjorie Guthrie, Woody’s widow and the founder of HDSA, and the Wexler family of the Hereditary Disease Foundation proved crucial in building both the public and self-awareness of the HD community and paving the way to key discoveries that have brought the hope of treatments.

Since 2003, however, the leadership in HD therapeutic research has come largely from the CHDI Foundation, Inc. Backed by a group of anonymous donors, CHDI spends tens of millions of dollars annually to fund drug-discovery projects. It also holds highly technical conferences to discuss the worldwide efforts to find treatments.

CHDI works without celebrities. While it has made waves in the world of science, it quietly goes about its work towards one goal – stopping Huntington’s disease – albeit HDSA shoulders the responsibility of advocacy, awareness, and services to HD families.

In the context of our biomedical system, CHDI illustrates a key point: having deep pockets and working behind the scenes can play as large a role – if not greater – in combatting a disease as public awareness.

HD scientists do find inspiration in the stories of HD patients.

However, they are also motivated by the deep curiosity characteristic of science researchers. HD provides a daunting challenge, one that has attracted some of the best scientific minds of our era. Additionally, it serves as a model for studying other genetic and neurological conditions, and the tools and techniques used in HD research can be applied to other scientific questions.

The momentum of science means that diseases even rarer than HD are benefitting from increased research and funding, as pointed out by Carl Zimmer in an article on fibrodysplasia ossificans progressiva, a genetic disorder that disables people by causing them to grow extra bones, in the June 2013 issue of The Atlantic. HD affects an estimated 1 in 10,000, the bone disorder 1 in 2 million!

“The medical establishment itself has shifted its approach to rare diseases, figuring out ways to fund research despite the inherently limited audience,” Zimmer observed. “Although rare diseases are still among the worst diagnoses to receive, it would not be a stretch to say there’s never been a better time to have one.”

In discovering a drug for a disease like HD, many important parts of the story will emerge only years later. Some aspects may never reach the public arena.

What counts most is stopping the disease.