For Huntington’s Disease Awareness Month, reflections on teaching about this devastating disorder at the University of San Diego

  

First proclaimed by President George H. W. Bush in 1991, Huntington’s Disease Awareness Month (May) encourages affected families to share their stories about this rare neurological disorder with the wider world.

 

For that reason, among others, I served on the board of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA) from 1998-2010. In this blog, begun in 2005, I have written articles commemorating HD Awareness Month.

 

A 2019 posting about HD Awareness Month featured a photo of me pointing to HDSA #LetsTalkAboutHD flyers posted on my office door at the University of San Diego (USD), where I teach history and research science and technology studies.

 

As a fulfillment of a long-term goal to advance both awareness-building and deepen my knowledge of HD science, in the spring semester of 2025 I inaugurated a new course, A History of the Brain: Examining Huntington’s Disease. Professors often say that the best way to learn a subject is to teach it. Student feedback is crucial in this process.

 

This month, in the third offering of the course, I distributed a flyer containing HD Awareness Month promotional material from HDSA and the Huntington’s Disease Foundation.

 

Each holding a flyer, three students – Ana-Lucia Moreno, Ava Puorro, and Mia Wilde – had a picture of me taken with them in the classroom and posted it on Wilde’s Instagram with the title “National Huntington’s Disease Awareness Month.”

 

“Best class ever with Dr. Serbin, who has Huntington’s disease and taught us so much about it in class!” they wrote on the posting.

 

They included the link to this blog. “Watch his blog to learn more about HD and how we can make all people feel included.”

 

 

From left to right, Mia Wilde, Gene Veritas (aka Kenneth P. Serbin), Ana-Lucia Moreno, and Ava Puorro in Wilde’s Instagram post about HD Awareness Month. The jacket I am wearing is much-appreciated swag from the Annual HD Therapeutics Conference, sponsored by CHDI Foundation, Inc., the biggest private funder of HD research (personal photo).

 

Keys to understanding the history of HD

 

A History of the Brain has great relevance to the present. At the outset, I acknowledge that I am not a neuroscientist but a historian, HD gene carrier, and advocate.

 

An introductory course that fulfills the history requirement in USD’s core curriculum, A History of the Brain teaches basic skills in how to interpret history. The students have a wide variety of majors and career interests, including premed, neuroscience, biotech, business, natural sciences, engineering, and the humanities. The course also counts towards a major or minor in history.

 

I lecture on the basic scientific understanding of the brain from antiquity to the present, based on the masterful book by Andrew P. Wickens, A History of the Brain: From Stone Age surgery to modern neuroscience. It helps provide an overview of humanity’s understanding of the brain in understandable terms.

 

To launch discussion about the disease, students do short writing assignments based on the course readings. They include neurologist Thomas Bird’s Can You Help Me? Inside the Turbulent World of Huntington Disease. As I stated in my review of the book, “With non-technical, limpid prose, Dr. Bird tells the full story of HD’s wide-ranging medical, socioeconomic, and legal implications through a series of poignant vignettes, based on hundreds of HD cases."

 

The students also read two classic works by prominent HD family member and historian Alice Wexler, Ph.D. In The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, Dr. Wexler explains the deep stigma and misunderstanding about HD that developed in the nineteenth and twentieth centuries. In Mapping Fate: A Memoir of Family Risk and Genetic Research she chronicles the crucial work by her family and a myriad of scientists to discover the huntingtin gene in 1993.

 

Emotional debates and discussions

 

Many days in the course produce deeply emotional debates and discussions.

 

My students’ recognition of the need for social inclusion for all echoes the course’s deep exploration of the stigma and discrimination associated with HD, other neurological disorders, mental illness, and disabilities.

 

Those themes emerge in the books about HD and in the selection of articles from my blog included in the course readings. For its contributions in giving a voice to the HD community, last year my blog received the 11th Victor Gonzalez Santos Community Award, which supports local families in San Diego with HD. My articles, which include stories of my family’s struggles with HD, and my discussions with the students add a deeply personal element to HD and the cause to defeat it.

 

The course studies in details HD’s triad of devastating symptoms: involuntary movements, cognitive loss, and behavioral and psychiatric difficulties. We also delve into many other difficult challenges faced by the HD community, such as genetic testing, family planning, and bioethical issues like abortion and suicide. We also discuss the quest for treatments of this still incurable disorder.

 

Students see how I bared my heart in blog articles like the one about my mother’s final moments before dying from HD and the revelation that I carried the HD gene. As a result, I need to be prepared to talk in class about the most devastating aspects of the disease and the fears of experiencing them myself.

 

College classes provide an exercise in intellectual freedom and debate, with a professor being open to all views. In one class last year we intensely debated police misunderstanding and mishandling of HD-affected individuals, who are often seen as being under the influence of drugs or alcohol.

 

I introduced the students to something new for most of them: the Psychiatric Emergency Response Team, which has specialists trained to interact with and identify resources for those with behavioral health issues and who may pose a threat to themselves or others. The students concluded that this team was the appropriate alternative to calling the police in the case of HD or other disorder.

 

Invaluable insights

 

The course closes with an important religious perspective on the HD cause. We ponder the question, “how could God allow people to suffer from disease?” We examine Pope Francis’s historic audience with the HD community in 2017 and his declaration that HD should be “hidden no more!”

 

One of my projects at USD is to publish an annotated collection of about a dozen or some of my blog articles.

 

My interaction with the students and their thoughts on my blog and the HD cause will provide invaluable insights for that project.

 

A ‘very meaningful’ experience

 

The course has also underscored for me the fact that Huntington’s disease is still not a household word in the U.S. as compared to Alzheimer’s, Parkinson’s, ALS (amyotrophic lateral sclerosis), and other disorders. For most of the students, it is their first exposure to HD.

 

HD families still lack an effective therapy.

 

In a very poignant way, the course introduces young people to something we all share: mortality. Tragically, last year a vibrant and accomplished 42-year-old USD sociology professor, Greg Prieto, Ph.D., died of cancer – after offering his own reflections on facing death.

 

With A History of the Brain, I hope to have move us a bit further towards the greater awareness that the HD community still needs.

 

My students’ HD Awareness Month Instagram post is an example of the impact the course has had.

 

In an e-mail to me, Mia Wilde reported that the post had some 600 views and 100 likes, “a really great amount of engagement.”

 

“Another person reached out asking what Huntington’s disease was, so I gave them a brief overview about it being a hereditary disease and shared some of what we learned in class,” Wilde wrote.

 

Another person told Wilde that “it was such a thoughtful thing that we were doing because they had a friend who had Huntington’s disease before, which I thought was very meaningful to hear.”

A veteran neurologist’s book offers tools for navigating the ‘turbulent world’ of Huntington’s disease

 

In the fight against any disease, affected individuals and health professionals can arm themselves with an invaluable tool: detailed, cutting-edge knowledge about a condition’s medical and social impact.

 

For the Huntington’s disease community and related disorders, Thomas Bird, M.D., has made a key contribution with his book Can You Help Me? Inside the Turbulent World of Huntington Disease, published last year (Oxford University Press).

 

A retired neurologist who has observed more than 1,000 individuals with HD, Dr. Bird has produced one of the most important – and most accessible – introductions to this devastating disorder. Can You Help Me? will remain relevant for years.

 

Dr. Bird is an Emeritus Professor of Neurology and Medical Genetics at the University of Washington in Seattle, WA. His career spanned more than 40 years, including pioneering work in the field of clinical neurogenetics (diagnosing and evaluating hereditary nervous system disorders). His patients included sufferers of Alzheimer’s disease (AD), Parkinson’s disease (PD), and other severe, chronic brain conditions.

 

“I have been […] constantly amazed, puzzled, distressed and impressed by the trials and tribulations of these families coping with it,” Dr. Bird writes of Huntington’s. (As with some in neighboring Canada and elsewhere, he calls it “Huntington disease.”) “Dealing with HD has been so moving, so unsettling and so challenging for me that I felt compelled to write about it.”

 

“Can you help me?” a desperate HD-affected man wrote Dr. Bird from the state penitentiary in 1980 seeking medical assistance. That question reverberated in Dr. Bird’s encounters with many other HD people and their families and caregivers.

 

With non-technical, limpid prose, Dr. Bird tells the full story of HD’s wide-ranging medical, socioeconomic, and legal implications through a series of poignant vignettes, based on hundreds of HD cases. He changed identifying information to preserve patient privacy, and in some cases created composites of two or three different individuals.

 

Can You Help Me? will ring familiar to veterans of the HD cause, but it also offers new revelations and insights about HD’s impact. Also, it provides an excellent primer for families new to HD.

 

 

Key lessons about bioethical challenges

 

Many of the stories in Can You Help Me? center on the bioethical challenges faced by HD families, such as the complex ramifications of genetic testing.

 

Dr. Bird retells the story of a deeply troubled young man from an HD family killed by the police after a life of drug use and many clashes with the law – anti-social behavior perhaps resulting from the disease. The man’s aunt pleaded with Dr. Bird to have the coroner confirm the man’s HD status, because he had a three-year-old daughter for whom the test result would someday hold great relevance. Divorced, the man had lost contact with the mother.

 

“Needless to say, this was uncharted territory for us,” Dr. Bird writes of his clinical team. “The appropriate legal or ethical aspects of this case were not clear to me, but I called the University Hospital genetics lab and explained the situation.” On Dr. Bird’s orders, the lab performed the test.

 

The test demonstrated that the man indeed did have HD – “another burden” for the extended family, as Dr. Bird writes.

 

“To this day, I do not know if we followed the correct strategy in trying to help this family,” he concludes. It seemed like “quick thinking” to ask the coroner to save a sample of the dead man’s blood for HD testing, he observes. But many questions remained, including when and how to tell the girl of her at-risk status, he adds.

 

Dr. Bird believed that he might encounter the family again, when the little girl had grown up.

 

Dr. Thomas Bird (book jacket photo by Chang En Yu)

 

No ‘typical’ patient

 

In an appendix, Dr. Bird provides an overview of the genetics of HD and the genetic testing process. In general, as I noted in a previous article, Dr. Bird’s book has helped move the HD field from a traditional, more limited kind of genetic counseling to broader “genetic education.”

 

Can You Help Me? reflects on many other key issues for the HD community.

 

He offers valuable insight into the challenges faced by health professionals working with HD patients, as exemplified in the story of a patient clinic who shot himself. “Could we have done more?” Dr. Bird asks. “These situations are heavy burdens for everyone to bear.”

 

Dr. Bird’s vignettes underscore another crucial point in line with the latest medical and scientific research into the disease: there is no “typical” HD patient, as symptoms manifest uniquely in each case.

 

Notably, Dr. Bird does not describe HD as being like a combination of other diseases such as AD and PD, a shorthand some in the HD community use. Dr. Bird instead compares HD to these and other conditions, thus adding vital context.

 

Dr. Bird also emphasizes the need to end the false dichotomy between psychiatric “mental” diseases like schizophrenia and “brain” diseases like HD. Both originate in the brain, he points out, and both cause “mental illness.” Psychiatry and neurology should intersect more, he argues.

 

A contribution to the history of HD

 

In researching the book, Dr. Bird did important historical legwork. For instance, he painstakingly tracked down important episodes such as the use of lobotomies as an attempt to treat HD.

 

“It is estimated that 50,000 lobotomies were performed in this country between 1938 and 1955,” Dr. Bird writes. “Since persons with HD were often institutionalized and lobotomies were common, it is likely that many of these operations were performed on patients with HD.”

 

Although the procedures on HD people were “not easy to document,” Dr. Bird finally found evidence by examining medical texts. In all, Dr. Bird estimates that “perhaps more than 100” people with HD had the operation. It is not currently recommended for HD.

 

A ‘Princess in Pink’

 

Although many vignettes are gut-wrenching, Can You Help Me? also highlights the sometimes-brighter side of the HD story, such as individuals with late onset, mild symptoms, and productive lives.

 

That message holds two-fold meaning for me as an asymptomatic 61-year-old HD gene carrier who saw his mother develop the disease in her late 40s and die at 68.

 

First, I remember how fortunate I am to have reached this stage without symptoms.

 

Secondly, as a writer and advocate, it reminds me that, no matter how badly the disease has turned people like my mother into shadows of themselves, we should see them as humans struggling with disabling symptoms.

 

A caring community can seek to alleviate some of that burden.

 

One of my favorite stories from Can You Help Me? spotlights the “Princess in Pink,” Bobbi, a little girl who, although afflicted with juvenile HD, maintained her cheerfulness.

 

Bobbi’s fifth-grade teacher, Miss Perry, “decided to be proactive,” Dr. Bird writes. “She wanted to make Bobbi more comfortable in the classroom and educate her other students about Bobbi’s disease and how to relate to persons with disabilities.”

 

The class created the “Princess Project” to discuss HD and create a booklet ­– with a pink cover and a picture of Bobbi wearing a pink crown – about Bobbi and her condition. The classmates wrote perceptive and compassionate entries and also made drawings of Bobbi.

 

“It was a learning experience for everyone, including the adults,” Dr. Bird recalls.

 

Sadly, by age 15, Bobbi’s conditioned worsened, requiring a feeding tube, a frequent end-of-life measure for HD patients. She died in a hospice setting. Several of her old classmates attended the memorial service, where they fondly remembered Bobbi, Dr. Bird writes.

 

A resounding ‘yes’ in wanting to help

 

Can You Help Me? is one of the best and most important books about HD. It builds on the work of historian Alice Wexler, in particular her book The Woman Who Walked into the Sea, which uncovers many of the prejudices associated with HD (click here to read my review).

 

Dr. Bird has provided us with a deeply rich documentation of life in the HD trenches.

 

The title Can You Help Me? asks a question that I and so many other HD family members have posed when confronted with the frightening prospects of HD. (It also holds great value for people in the AD, PD, and other neurological disease communities.)

 

“Sometimes we can help a great deal, sometimes we can only help a little, and sometimes we just muddle through as best we can, navigating our way between suffering and harm,” Dr. Bird concludes, noting briefly that research towards treatments “heralds better days ahead for the world of HD.”

 

Fortunately, for the HD community, Dr. Bird’s book indicates a resounding “yes” regarding the desire by him and so many other professionals to alleviate the suffering caused by HD.

 

(For an interview of Dr. Bird about the book, click here).

Wonder if you’ll get Huntington’s disease? Preparing for the big, ‘intensely personal’ decision to undergo predictive testing

One of the most daunting challenges facing families affected by Huntington’s disease involves genetic testing.

Huntington’s is a 100-percent genetically caused disease, and it now can be foreseen – but not yet cured or treated. All humans have the huntingtin gene, which is essential for life. HD’s devastating, ultimately deadly symptoms are caused by a specific mutation (called a “CAG repeat expansion”) in the gene. Definitive testing for HD became available after the historic discovery of the gene in 1993.

Because every child of an affected HD parent has a 50-50 chance of inheriting the expanded gene, the mere decision to test is often frightful. A positive test result for the expansion means not only that the tested person will develop HD, but carries an added burden: the knowledge that both immediate and extended family members are also at risk of carrying the expansion.

Three scenarios

A person showing no symptoms, or suspecting symptoms, undergoes a predictive test, that is, to see whether the individual carries the expansion and therefore might have HD or later develop it. (Diagnostic testing confirms whether a person already displaying symptoms has HD. Prenatal testing determines whether a fetus or embryo carries the expansion.)

These three scenarios were poignantly portrayed in the July 3 ABC News feature “Living with Huntington’s Disease.” The 15-minute program focused on the stories of Scott and Kelsey Porter and Justin Furstenberg, who received his test result on camera (starkly reminiscent of the film The Lion’s Mouth Opens.)

The report’s detailed, deeply personal rendering of the genetic testing process also illustrated how HD families rely on supportive genetic counseling and psychological and medical assistance – as well as solid scientific information – to navigate the many challenges involved.

Scott and Kelsey Porter in a Huntington's Disease Society of America video

According to recommended guidelines, individuals like the at-risk Kelsey must prepare for this procedure by speaking to a genetic counselor and a mental health professional, and should have a support person (such as a spouse or close friend) physically present throughout the process. For testing in the United States, this “protocol” was established by the Huntington’s Disease Society of America (HDSA). It was most recently updated in 2016. Testing centers should do the utmost to ensure confidentiality, especially since news of a positive test can risk changing perceptions in the workplace and elsewhere, even if there are new guarantees against genetic discrimination.

Testing centers often intentionally slow the testing process, so that there is time for the individual to reconsider the decision to be tested, to think about the potential downside of testing, and to prepare for the impact of the result. Because of survivor’s guilt and other psychological factors, a negative test result can also prove traumatic and disruptive to a person’s relationships with family and friends.

In my quarter century of attending the local monthly HDSA support group and advocating for the HD cause, the topic of predictive genetic testing and its many implications has come up regularly. My own family faced all three modes of tests over five years: my mother’s positive diagnostic test in 1995, my positive predictive test in 1999, and my daughter’s negative prenatal test in late 1999/early 2000. (Click here for details of my family’s fight against HD.)

Based on these experiences and my study of the many related issues, this article provides an overview of key steps and resources for people preparing for HD testing, in particular the predictive type.

Helpful HDSA resources

HDSA, in addition to its genetic testing protocol, provides a brochure to HD families, Genetic Testing Huntington’s Disease, that in simple language answers basic questions about the disease, testing procedures, and resources.

The brochure emphasizes a cardinal rule that I learned early in my family’s journey with HD, and which I have repeated to other HD family members coming to grips with disease for the first time:

“The decision to undergo genetic testing is an intensely personal one that cannot be taken lightly. Testing should never be forced on an at-risk individual. There are no ‘right’ or ‘wrong’ answers. Each individual will have to take his/her own circumstances into consideration before making the decision.”

The HDSA family guide to genetic testing (copyright, HDSA)

The HDSA website furnishes valuable information on “genetic testing and your rights,” including the Genetic Information Nondiscrimination Act of 2008 (GINA). As explained on the site, GINA prohibits “health insurance companies and group health plans from denying coverage or charging a higher premium based on genetic information.” It also “prohibits employers from using an employee’s genetic information to discriminate when making employment decisions about hiring, firing, promotion, or terms of employment.”

In chapter 2 of HDSA’s A Physician’s Guide to the Management of Huntington’s Disease, leading HD specialist Martha Nance, M.D., provides additional critical information about testing and counseling. The chapter includes a detailed medical discussion of HD genetics.

A diagnosis of HD “affects the entire extended family,” Dr. Nance writes. “The person who is diagnosed with HD grieves not only for himself, but also for his at-risk children, and a young adult child caring for an affected parent understands that the parent’s disease could one day affect him.”

Dr. Nance stresses the importance of “accurate information” necessary for families to make “informed decisions” about genetic testing and family, financial, and life planning. Unfortunately, even decades after the discovery of the gene, “misinformation and misunderstandings” about HD genetics are still common, she notes.

(You can also watch a panel discussion titled “Looking to the Future: Life After Testing,” held at HDSA’s 35th annual convention, which took place online last month.)

Moving towards ‘genetic education’

In 2018, the international Huntington’s Disease Youth Organization (HDYO) added to its website a very readable “Genetic Testing Checklist,” covering key topics such as motivation for testing, coping with the test results, the testing process, and key things to do before testing, such as lining up insurance coverage (discussed below). This resource echoes many of the points made in HDSA materials.

In 2019, veteran University of Washington neurologist Thomas D. Bird, M.D., published Can You Help Me? Inside the Turbulent World of Huntington Disease, a book based on his more than 40 years’ experience seeing HD patients and their families. It includes detailed discussion of the many issues involved in what Dr. Bird calls the “genetic testing conundrum.”

Individuals contemplating genetic testing will find many valuable stories in Dr. Bird’s book. He describes the gamut of people’s reactions to testing – from individuals who have tested negative but still require a while for it to “sink in,” to (sadly) the risk for suicide among people testing positive.

“Suicide represents the cause of death in about 5-6% of persons with HD – five times higher than the national average,” Dr. Bird explains. “It can happen at any time but it is most common when a person at risk decides he or she is developing symptoms.”

Dr. Bird observes, crucially, that the “genetic test result is not black and white, all or nothing.” This reflects the latest genetic research on HD, which has demonstrated that the age of onset of symptoms is driven not just by the severity of the mutation but also by modifier genes (click here to read more).

This is why Dr. Bird stresses a comprehensive understanding of genetic counseling.

“Some people don’t like the term counseling,” he writes. “It sounds too much like psychotherapy, and they are wary of that. In fact, genetic counseling does sometimes have a heavy dose of psychotherapy, but it entails much more. Perhaps the best word would be education – genetic education.”

(I will review Can You Help Me? more fully in a future article.)

Ten key steps 

With these resources in mind, I list below ten key steps in preparing for a predictive genetic test and dealing with its short- and long-term consequences. These are my personal thoughts; this list is not meant to be exhaustive or official. Individuals should always consult their physicians. Each individual’s situation is unique.

1. Learn as much as you can about HD by studying the resources cited in this article, as well as others.

2. Join a support group, where you can learn from and share ideas with others confronting HD, as well as from facilitators and health professionals.

3. Contact the nearest HDSA Center of Excellence (or other HD or neurology clinic), where you can obtain information about testing and clinical services. You also can become involved in critical efforts towards treatments such as clinical trials and research studies like Enroll-HD. 

4. Know your rights regarding genetic testing and healthcare access under federal, state, and local law in your country of residence, and, in the U.S., learn about GINA.

5. Obtain life, disability, and/or long-term care insurance prior to testing. GINA does not protect consumers in these areas. In 1999, before testing, I was able to secure a long-term care policy with lifetime coverage. Since then, the long-term care market has gone into crisis, with many fewer policies issued, and far more limited coverage (click here and here to read more). At the time, I found it very helpful to work with an insurance broker recommended by an insurance agent specializing in long-term care who had been a guest speaker at the HD support group.

6. Set up a will, an advanced directive for end-of-life care, and, if appropriate, a living will to help protect assets. Also plan for the potential impact of HD on family finances by consulting a trusted financial advisor.

7. Research and select the testing center for your genetic test, including the cost of the procedure, which can run from a few hundred dollars to more than $1,000. (Some HDSA Centers of Excellence offer free or reduced pricing on testing. One foundation has paid for in vitro fertilization of non-HD-affected embryos but temporarily suspended grants because of the COVID-19 pandemic.) Some HD family members have criticized the quality of guidance provided at some centers. Be your own best advocate, and don’t be afraid to ask questions.

8. Find a trusted family member or friend to be your support person.

9. Build a relationship with a trusted psychotherapist.

10. Become active in HDSA and/or other advocacy organizations.

With potential treatments, an expected boom in testing

As the geneticist who revealed my test results in 1999 stated, “a positive test is not a diagnosis.” Physicians and scientists underscore this point. Like me, many people live years and even decades after their test before symptoms start.

Currently, no more than ten percent of at-risk individuals choose to be tested. The vast majority fear a potentially depressing result, “and there is no means of prevention,” Dr. Bird observes.

However, as clinical trials such as the historic GENERATION HD1 proceed, the potential for the first effective treatments has grown significantly.

Indeed, doctors and HD clinics are preparing for the likely boom in testing for the HD mutation that will occur if GENERATION HD1 or trials of other possible disease-modifying treatments are successful, as people seek to learn their status before starting on a treatment. (Click here and here to read more.)

More than ever, people seeking HD predictive testing and their families will need what Dr. Bird describes as “an experienced, compassionate team to help them through this challenge.”