‘Predicting’ Huntington’s disease in the heartland

To develop treatments for a disease, researchers and physicians first need to understand how its symptoms evolve and how they affect people’s lives.

In early August, I traveled to the University of Iowa in Iowa City to donate blood, urine, and saliva samples, undergo a motor coordination exam and brain MRI scan, and perform a battery of cognitive and mood tests for the long-term research study Neurobiological Predictors of Huntington’s Disease, best known as PREDICT-HD, one of the largest public-private research projects in the history of the quest to defeat the disease.

My biological samples will become part of a bio-repository at the National Institute of Neurological Disorders and Stroke (NINDS), a division of the National Institutes of Health (NIH) located just outside Washington, D.C. Researchers from around the world can apply for access to these materials.

In studying gene-positive, asymptomatic people like me, the scores of researchers working at the University of Iowa, 26 other PREDICT centers in the U.S. and abroad, and many other institutions can try to analyze how the early symptoms of HD develop.

They are also seeking to identify HD “biomarkers” in the blood, cerebral spinal fluid (CSF), and brains of the study participants, who include formerly at-risk individuals who tested negative for HD. These individuals serve as a control, or comparison, group to ascertain which changes in the gene-positive people are specifically caused by HD.

Gene Veritas in preparation for PREDICT-HD MRI scan (photo by Sarah Petitt)

With biomarkers and other study data, researchers can effectively measure the effectiveness of potential treatments in upcoming clinical trials.

Patients: study us!

The lead scientist and administrator of the multi-million-dollar PREDICT study is Jane Paulsen, Ph.D., the co-director of the University of Iowa Huntington’s Disease Society of America Center of Excellence and Professor of Psychiatry, Neurology, Psychology, and Neuroscience. From 1991-96, she was a postdoctoral neuropsychology fellow at the University of California, San Diego (UCSD), where she directed the HD clinical research program and came into close contact with the local HD community.

“The desire to move towards earlier detection and identification was really brought forth at UCSD from the families,” Dr. Paulsen recalled in an August 6 interview. Such families, she noted, told her: “‘You know, I’ve been dealing with this for years, and it isn’t validated by the professional community. I don’t have a diagnosis. A lot of people just think I’m exaggerating.’

“So just that sense of so many people who are at risk, who might be having subtle symptoms. When we would see them, we could detect maybe cognitive or certainly emotional changes that might occur. There’s a lot of stages that occur before you get the motor signs and diagnosis.

“So the whole PREDICT project was sparked by families in San Diego saying, ‘I’ve seen this forever, and we need to detect it sooner, before I lose my job or blow up at my kids or I don’t take care of my home responsibilities the same or my friends don’t understand me the same or my family doesn’t understand me the same. If we could move it back and better understand it, then we could maintain all those additional components of my life.’ So that was really the motivating factor – trying to get people to look at it this presymptomatically, before that diagnosis.”

The decision to start PREDICT occurred in 1998 at an executive meeting of the physician-researcher collective known as the Huntington Study Group, of which Dr. Paulsen was a founding member. PREDICT formally began in 2001.

With its focus on the asymptomatic, PREDICT could help identify and test preventative treatments – the “holy grail” of HD research.

“Eventually, when they have a treatment, we want to intervene as soon as possible, because the sooner we intervene in the brain, the less tissue loss, the less dysfunction, the less toxicity has occurred,” Dr. Paulsen explained. “Even if we slow it 15 percent, which is all that they’ve done in other brain diseases, since HD lasts so many years – we’re thinking 40 years now – 15 percent could be many years where you could maintain a higher level of functioning.”

You can watch the entire interview with Dr. Paulsen in the video below.

Maximizing research

PREDICT seeks to “maximize” HD research, Dr. Paulsen said. “We work with anybody who wants to work on a particular aspect of the disease.”

As the PREDICT flagship, the University of Iowa has collaborated with its sister PREDICT centers and also partners and subcontractors at other academic institutions in the U.S. and abroad. The partners focus on cognitive testing, brain imaging, and motor studies. They include leading universities such as Johns Hopkins University, Brown University, and the Massachusetts Institute of Technology. On protein studies, PREDICT collaborates with Caprion, a private firm.

PREDICT had as many as 33 centers but currently has 27 active sites. Worldwide some 1,500 individuals, including 1,200 gene-positive, have participated in PREDICT. The study seeks to follow 1,000 individuals on a regular basis.

Stimulated largely by PREDICT, Iowa alone has produced a critical mass of innovative HD research in what Dr. Paulsen described as an “explosion” in knowledge about the disease over the past decade.

Among the 20-plus projects at Iowa over the past decade, Dr. Paulsen described research on clinical markers of the disease; biomarkers; proteomics (the study of HD-associated proteins); bone mass and metabolism; MRI scans; PET scans; full genome-wide scans (looking at all the genes in study participants); comparisons of symptoms among people with the same level of genetic mutation; the impact of discrimination and stigmatization on gene-positive people; and the possibility that HD might have vascular, immunological, or inflammatory components.

PREDICT researchers and their collaborators have published numerous scientific articles on presymptomatic HD and other aspects of the disease. These include studies seeking to refine cognitive testing; measure the relationship between estimated disease onset and the likelihood of the use of antidepressants; detect brain cell loss as an early HD imaging biomarker; and gauge the loss of perception and processing time in individuals.

Under Dr. Paulsen’s leadership, Iowa has also taken a key role in the study of juvenile Huntington’s disease, a form of the condition often given little attention by researchers because it accounts for just 10 percent of all HD cases.

Crunching the data

To help form research questions, search for useful biomarkers among the large amounts of data collected by PREDICT-HD, and help plan their use in clinical trials, the project enlists the skills of biostatistician Jeffrey Long, Ph.D., a professor of psychiatry.

“I mainly focus in tracking progression over time,” said Dr. Long, the author of a textbook on the open-source computer program known as R, used widely by statisticians and in the PREDICT research. “We try to make use of every piece of data because we are appreciative of the time you all devoted to the study and want to make sure that we maximize the relevant information for the community.”

Gene Veritas (left) interviewing Dr. Jeffrey Long (photo by Sean Thompson)

The seven-member bio-statistical team led by Dr. Long analyzes the different kinds of data collected individually and in combination. The team also helps draw comparisons between data from gene-positive and gene-negative individuals to account for factors such as cognitive loss due to natural aging.

Additionally, the scientists seek to understand the key relationship between the level of genetic mutation and the age of onset and severity of the disease. They have helped identify one key imaging biomarker: the diminishing size of the brain region known as the putamen before disease onset. They have also noted an abundance of a particular kind of protein in the bloodstream of gene-positive individuals.

A special connection

To coordinate visits by PREDICT participants and administer questionnaires and cognitive testing, the project employs several study coordinators, including research associate Stephen Cross.

“I’ve fallen in love with the population,” said Cross. “They talk about the ‘HD bug.’ I’ve got the bug. There’s something unique about this population. I think it’s the family aspect of it. I would feel like I was abandoning the cause to work with another group.”

With PREDICT since 2008, Cross currently has a caseload of some 80 individuals and their families.

PREDICT-HD study coordinator Stephen Cross (left) conversing with Gene Veritas (photo by Sarah Petitt)

“All of them have their lives changed by the genetic testing, regardless of the results, whether it’s positive or negative,” he observed.

He said that, in the case of gene-positive individuals, especially those from families who can trace the disease back a number of generations, “I think it changes their souls, when you know what’s coming in the family, when it’s in yourself. There’s some kind of interaction in this triad of symptoms – the movement, the psychiatric and the cognitive. I think you’re special because of this disease. I feel a spiritual connection with my participants.”

Brain and body scans

“We have many imaging studies,” said Dr. Paulsen. “We’re looking at the shape changes in the brain.”

Imaging provides a picture of HD without the “need to poke around in the brain,” Dr. Paulsen noted.

 “We already have a very good imaging marker,” she continued. “We can measure the volume of the part that’s particularly sensitive to Huntington’s disease, the striata or the basal ganglia. We can see that it changes a percentage every year of the disease. Even as far back as ten, 15 years prior to diagnosis. But we want to get are even better imaging markers, maybe ones that are earlier or maybe one that gives us a more robust signal. So that’s why we have a lot of projects right now that are really trying to challenge what we can learn from brain imaging.”

Gene Veritas (above) walks through a metal detector in preparation for a PREDICT-HD MRI scan performed after MRI radiology technician Marla Kleingartner (below) secures his head to prevent movement during the scan (photos by Sarah Petitt).

In addition to markers, imaging has revealed new information about the extent of the disease, Dr. Paulsen added. Scientists long thought HD affected only the basal ganglia, the area of the brain responsible for motor function.

“The imaging data that’s been published over the last decade shows that it’s much more widespread in the brain,” she said.

With the lack so far of significant HD biomarkers in the blood and urine, PREDICT is now starting to study CSF collected from a number of its previous and current participants by way of a spinal tap.

(I could not donate CSF because a previous lower back injury made the procedure too risky for me.)

A full-body scan

As a registered nurse, Nancy Downing, Ph.D., takes a holistic approach to HD-affected individuals, always seeking to improve their quality of life.

Several years ago, an NIH seminar on genetics helped solidify Dr. Downing’s interest in HD, she said. Today she seeks to integrate genetics and efforts to improve patients’ quality of life. As a PREDICT researcher, she has especially focused on the effects of diet and exercise and the way in which lifestyle affects the expression of genes.

Just two months ago she helped complete a pioneering twelve-month study in which a group of PREDICT participants underwent dual x-ray absorptiometry, a scan that reveals the composition of a person’s body mass (lean, fat, and bone). This same machine is used to detect osteoporosis.

Nancy Downing, Ph.D., RN, SANE-A (photo courtesy of HDSA Center of Excellence at the University of Iowa)

Dr. Downing hopes to triangulate the data from this study to help understand what HD does to areas of the body other than the brain such as muscle tissue. Evidence already suggests that gene-positive individuals have a shortage of branched-chain amino acids, necessary for muscle building and repair, she said.

Dr. Downing’s work supports the growing notion that HD must be seen as a disease of the body and not just the brain.

Preparing for clinical trials

PREDICT can have an impact on clinical trials and the approach treatments might take, Dr. Paulsen said.

“It’s kind of a when, where, how question,” she said. “I don’t think any of those questions is fully answered, so we have more work to do. But we have answers to those questions that we didn’t have before.

“We didn’t know that there was a when, where, how. We thought that once they get a diagnosis, we’re going to try to treat them with something that we’ve learned from other neurodegenerative diseases. I think in many ways Huntington’s has opened up that box and made it much larger. It’s a very exciting time. And I think it will continue. We’re not even close to the end of the possibilities on where we intervene, (and on) the changes of Huntington’s disease.”

PREDICT, with its unique database of long-term data on presymptomatic individuals, could potentially furnish important data for clinical trials, she added.

“We have this entire cohort,” she explained. “We know exactly how much change they have over time. If we do an intervention, we will be able to determine how much change has occurred. No other study can do that, because if you recruit someone new, you don’t know that individual’s trajectory. We have each individual’s trajectory. We know what type of progression they have. If there was a treatment today, this is the group we should put it in, because we tell exactly what’s going on with that person.”

A potential key treatment

In collaboration with PREDICT and other HD projects at Iowa, the lab of Beverly Davidson, Ph.D., is engaged in research aiming for a clinical trial to test a gene-silencing drug that could at least partially halt HD at its root cause.

This approach would involve the use of RNA interference (RNAi) molecules permanently introduced into the brain via the injection of a virus by a neurosurgeon.

Similar to two separate gene-silencing clinical trials planned by Isis Pharmaceuticals, Inc., and Roche and a team involving Medtronic and the non-profit CHDI Foundation, Inc., the potential Davidson lab therapy aims to reduce the production of harmful huntingtin protein by interrupting the natural translation of the gene into protein.

In HD mouse testing, the lab has demonstrated that RNAi reduces the toxicity of the bad gene in the brain and alleviates symptoms, Dr. Davidson said.

She explained that RNAi is currently under study in a clinical trial for Leber congenital amaurosis, a retinal disorder that leads to blindness in children.

“They put this into the eyes of these children, and the children are showing remarkable, remarkable results,” Dr. Davidson said.

Two of the Leber pioneers, Katherine High, M.D., and Jean Bennet,M.D., Ph.D., are “collaborating with us to develop the gene therapy vectors for Huntington’s disease,” Dr. Davidson noted.

Dr. Davidson said her team hopes to start a clinical trial within the next two years. “That might be aggressive, but we’ve been putting in a lot of effort in the background in the last year or so,” she said.

To learn more about this project watch my interview with Dr. Davidson in the video below.

PREDICT’s ending, gratitude to funders

Although currently operating at full steam, at least in its current form PREDICT is scheduled to end on July 1, 2014.

From 2001-2013, PREDICT received a total of $46.8 million in National Institute of Neurological Disorders and Stroke (NINDS) funding. Additional support has come from the National Human Genome Research Institute and the National Institute of Mental Health. The CHDI Foundation has also infused $15.5 million into the project and is providing further assistance.

In the last five years of the study, PREDICT received $5.6 million annually in federal funds from NINDS. The 2013-2014 fiscal year costs are being covered from funds incurred from previous years.

“I was told that NINDS won’t consider any more budgets over $1 million,” said Dr. Paulsen, noting the high cost of this kind of research. She said Iowa would be unable to continue the PREDICT study in its current form with so little money. Just bringing patients to Iowa is a major expense.

NINDS has experienced cuts in recent years. For fiscal year 2013, the federal government cut five percent of the NINDS budget as part of the $85 billion in overall spending cuts determined by Congress, including the sequestration provisions legislated in 2011.

In addition, CHDI is now shifting its priorities to implementing a new worldwide HD patient study and database known as Enroll-HD.

Nevertheless, Dr. Paulsen recognized the significance of NINDS funding, described by one observer as the largest HD project ever funded by the agency.

“I understand NINDS,” Dr. Paulsen said. “They’ve been cut every year. We’ve been fortunate to receive funding from them for years, and CHDI has supplemented us. They had us expand and train some sites to expand. They have supplemented us when we ran into obstacles. CHDI has been very forthcoming in assisting. So they’re just always there in the wings saying, ‘What can we do to make this go better?’ They really want to push things forward.”

Assessing PREDICT’s impact

Asked to reflect on the ultimate causes of PREDICT’s expected termination, Dr. Paulsen stated that she’s “not sure I have the right answer. I have my opinion. There are centers that have followed research projects for decades.”

The federal government has supported such ongoing centers for AIDS, Alzheimer’s, Parkinson’s, and alcoholism, she noted.

However, once again, HD’s status as a rare disease might be leading officials to treat it as insignificant, Dr. Paulsen indicated. Others might have misunderstood PREDICT to have failed to innovate.

She rebuts those notions.

“The output of this project has been far greater than many other of the ongoing centers,” she observed, adding that HD research has contributed significantly to the study of other conditions. “It’s definitely been a project that has morphed and kept up and pushed the envelope. It would be nice to be funded like other centers that just are kind of automatically rolled over.

“We have to be protective of our resources, but the amount we are learning has just become exponential. It has grown so much and it isn’t stopping. Most of the projects I’m talking about are brand new. They’re just starting to look at CSF, at new imaging markers, at trajectories.”

Despite these setbacks, Dr. Paulsen said that HD research would continue at Iowa. New grant applications are already in the works, she said.

The Iowa HDSA Center of Excellence will also continue its activities.

My future in PREDICT

In line with PREDICT’s goal of tracking patients over time, the Iowa team has already notified me that I should return next year for a follow-up examination, before the July 1, 2014, end date.

Ideally, I should also make a third visit at a later date for the researchers to have sufficient data points. The uncertain budgetary situation has cast doubt on that possibility.

Regardless, I feel privileged to have contributed as an HD-positive individual to the quest for treatments, and I am thankful to the numerous researchers and support staff of PREDICT-HD and the public and for the private funding that has made this initiative possible.

(Next time: advocacy meets science and medicine in Iowa and beyond.) 

A gene-positive dad’s reflections on Huntington’s disease, parenthood, and the fragility of life

Our “miracle daughter” Bianca, who tested negative in the womb for Huntington’s disease in early 2000, recently turned 13.

As my wife Regina and I have watched Bianca transform before our very eyes into a teenager, I have contemplated the beauty and fragility of this miracle of life.

Bianca’s latest birthday was doubly special: she became a teenager, and we again quietly gave thanks for her gene-negative status.

Had Bianca tested positive for HD, she might now be facing the scourge of juvenile Huntington’s (JHD), a particularly cruel form of the disease caused when a gene-positive parent, usually the father, passes on a more severe form of the genetic mutation, causing onset to occur as early as the toddler years.

JHD strikes while a person is still developing physically and neurologically. JHD can cause considerable pain, and some patients require operations for problems such as deformed limbs.

Few JHD patients survive beyond the age of 30, and some die during childhood.

Whenever I witness JHD families’ terrible struggles, I breathe a sigh of relief that we as a family avoided such an immense burden on top of my race against the genetic clock.

Nobody’s exempt from life’s challenges

However, as a father striving to provide Bianca with a safe, stable, and promising upbringing, I know that freedom from HD doesn’t mean freedom from life’s other risks. Regina and I must still help her negotiate not only the successes, but also the many challenges that lie ahead – and to know when to step back and let her handle them on her own.

We’re also aware that each day illnesses of all sorts, genetic and otherwise, strike many teens and young adults. The other day I learned that a friend’s son faces an incurable, though partially treatable genetic disorder. My heart sunk when I learned of the difficulties that await this young person.

The HD community faces many tribulations, but so many others suffer, too. Understanding this helps Regina and me to put our family’s situation in perspective.

Genetics, families, and ethics

Child-rearing provides the key to understanding a major human purpose: propagating the human species and aiming toward a brighter future.

Today the study of genetics and the search for treatments for life-threatening genetic conditions such as HD constitute a new human purpose but also new, ever-more-nuanced definitions of conception and the family.

Regina and I faced the terrible possibility of bearing a child with the HD gene. In 1999, preimplantation genetic diagnosis (PGD) wasn’t possible. Today it helps families eliminate HD forever from the family line

In the Genomic Era, families can take advantage of new scientific tools, but use of these tools also forces us to confront new ethical and moral questions.

Best strategy: honesty

Regina, Bianca, and I rarely discuss HD as a family matter, but it does frequently come up in the context of my advocacy as a volunteer for the Huntington’s Disease Society of America (HDSA) and writer of this blog.

In 2012 and 2013 the three of us took part in the local annual HDSA Hope Walk to raise funds and awareness.

Kenneth (left), Regina, and Bianca Serbin with Allan and Jane Rappoport, the Serbin Family "Beat HD" Team in the 2012 HDSA-San Diego Hope Walk (photo by E. J. Garner)

Bianca has also read several articles from this blog.

Responding first to Bianca’s curiosity about my mother Carol’s illness and eventual death from HD in 2006, I have always answered her questions about HD with explanations appropriate for her age at the moment. In so doing, I have relied on my knowledge of the science of HD and other families’ experiences with its social impact – but also on my gut.

Seeing how denial, stigma, and discrimination tear apart HD families – including parts of my own – I have always adopted a strategy of openness and honesty in discussing Huntington’s with not only my daughter, but other members of my extended family and my “HD family.”

New vistas

Parenting never ends. It requires constant attention, patience, and spousal teamwork. Each stage in the child’s life is unique and demands creativity and receptivity on the part of the parents.

During our vacation in Europe last month, Regina and I made a special effort to open up new vistas to Bianca and become closer to her. She is striving to become independent, but, even though she may not admit it, she still needs and wants parental love and attention.

Now, as we prepare to return to the routine of school, I feel great pride in Bianca’s good health and accomplishments.

However, I also worry about the many challenges of the teen years, and I wonder increasingly about her rapidly approaching young adulthood. She is just five years from entering college!

Strengthening bonds

I feel extremely fortunate to have so far avoided the inevitable symptoms of HD. An HD-free life has allowed me to enjoy my HD-negative daughter and protected her from having to confront living with a symptomatic dad.

As I await potential treatment breakthroughs, I savor every moment.

With each passing day, I become ever more conscious of the fragility of life.

However, as long as I enjoy good health, I will work to the utmost to strengthen my bonds to my family and to share the demands and joys of parenting with my wife.

Going with the flow of time

Like many in our fast-paced era, early in life I developed an acute sense of time. Patience with others, with life, and with myself was not one of my virtues.

After learning in 1995 that my mother had Huntington’s disease and that I had a 50-50 chance of inheriting the devastating mutation, my anxiety about the passage of time multiplied.

On one level, I definitely came to appreciate the preciousness of time – especially after testing positive for HD in 1999 and seeing my mother succumb to the disease in 2006 at the age of 68.

On another level, however, worries about time have continued to gnaw at my mind. I strive to enjoy life, providing for and spending time with my family, but also to create a legacy as a scholar, writer, HD advocate, and citizen. As I once wrote, “I’m squeezing as much as I can into my life before the symptoms start.”

‘Tricking’ time

For a long time I’ve believed that I can somehow trick time, getting more than 24 hours out of a day.

Not long after I had learned of my mother’s HD, one of my students asked me why I walked so quickly around the campus. “I have so much to do!” I replied while pondering my professional ambition and worrying about my vulnerability to the disease.

I frequently recall a radio segment about a former federal cabinet official whose ambition led him to obsess about reducing to the absolute minimum the time spent on each detail in getting ready in the morning.

Identifying with that attitude, I find it simultaneously fascinating and tragic.

Though I know that going to bed at a regular time contributes to good neurological health, I often stay up late, thinking that if I just squeeze in a bit more work or one more TV show, I’ll somehow have gotten more time out of the day.

So much of my life is tied to the mystery of time, including a self-esteem reliant on a sense of accomplishment and recognition. If it weren’t for this damned time, I could do so much more!

Defeating time is the avenue to feeling powerful, and toward the goal of defeating Huntington’s disease.

Ultimately, to defeat time is to defeat death itself. This desire is a not uncommon phenomenon as people age, but the specter of HD makes it unavoidable.

Counteracting anxiety

To counteract the anxiety about time and HD, I have employed some key strategies. I work with a psychotherapist, take medications to stave off anxiety and depression, and subscribe to the philosophy of Don’t Sweat the Small Stuff … and it’s all small stuff. I also try to exercise, live in the moment, and to connect with my spiritual dimension, for example, by attending Mass.

When brushing my teeth seems to take forever because I’m anxious about getting to a seemingly more important upcoming activity, I try to remember the advice of the Vietnamese Buddhist monk Thich Nhat Hanh to savor the simplest of experiences as part of the process of life.

I’ve also sought wisdom about time from the scientific minds of our era.

However, after reading biographies of Stephen Hawking and Albert Einstein, I’ve understood clearly how we are in the infancy of defining and comprehending the dimension called time.

We can’t even perceive time with our five senses – except for the fact that our bodies age and diseases like HD take their inevitable toll.

A terrible delusion

Last month, in a conversation with my psychotherapist, I came to the healthy realization about how I have deluded myself about tricking time.

A few weeks later, I departed with my family for a three-week trip in Europe.

Once again, vacation time provided me with a small but stimulating break from the routine of work and the challenges of living at risk for HD.

Amidst the excitement of visits to cities like Berlin, Prague, and Vienna, I maintained my daily morning meditation.

As we whisked through Europe, the mystery of time once again loomed.

I wanted to stop time so that the great moments with my family would never end.

Kenneth Serbin (left) with daughter Bianca and wife Regina on the Charles Bridge in Prague (family photo)

A revelation

However, during one moment of meditation, I had a mini-revelation about time.

I told myself: “You cannot trick time. You must be with time and part of time. You cannot go against time. You must accept it. You must flow with it.”

In the days since, I have felt a renewed sense of peace.

I don’t believe outcomes are preordained, but I do feel that I must no longer resist the flow of time.

I cannot extend my time. I must live with the amount I have as best I can.

I must approach life, including the threat of Huntington’s disease, with acceptance, even as I strive daily to make a difference.

Although scientists are working feverishly on potential clinical trials, treatments may not appear in time to save me.

I can help, I can hope, and I can wish progress for everyone in the HD community. But I cannot stop time to wait.

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.”