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.”

A family united against Huntington’s disease

The overwhelming challenges of Huntington’s disease frequently provoke serious conflict – even splits – within families.

The genetic nature of HD, the accompanying stigma, the devastating symptoms, and the heavy caregiving burden often produce emotionally draining conflicts. Then the lack of solidarity impedes the quest for improved care and treatments.

On April 24, during a recent visit to Brazil, I met the extraordinarily united Miranda family. The Mirandas’ example provides HD families (and other disease communities) with an alternative to hostility: when adversity hit, they pulled together.

At the invitation of their matriarch, Edília Ferreira Miranda Aded Paz, I met more than a dozen members of the extended family at Edília’s spacious home in a prosperous neighborhood on the outskirts of Brasília, the capital.

Edília’s father, Marcondes Miranda, died of HD in 1974 at 62. Marcondes left an enormous number of offspring affected by or at risk for the disease. He and his late wife had 14 children, eight of whom inherited the HD genetic defect. Today there are 50 Miranda grandchildren, plus also great-grandchildren and great-great-grandchildren. Some descendants have died from HD, others currently suffer from the disease, and many young ones likely carry the defect.

Edília, who tested negative for HD, took the family’s lead on HD in the mid-1990s. At 65, she is the vice president of the União dos Parentes e Amigos dos Doentes de Huntington (UPADH, Association of Relatives and Friends of Huntington’s Patients), based in Brasília, and she sits on the board of Brazil’s other HD organization, the Associação Brasil Huntington (ABH), headquartered in São Paulo.

“What’s interesting about my family is that it united us,” Edília, a retired public servant, said of Huntington’s. “From the moment we learned that a very large number of people had the gene, we came together.”

We spoke in Portuguese during the family meeting, which I recorded so others could listen later. Edília and I had met briefly at the World Congress on Huntington’s Disease in Rio de Janeiro in 2013, and she follows this blog. I had long wanted to meet with UPADH members.

“I do everything possible and impossible to keep the family united,” Edília continued. “Because in my mind, if things are already bad enough with all these people affected, it’s even worse if we’re alone.

“I don’t have the disease, but I never celebrated that fact. Two other sisters who tested negative and I used to say: what’s worse – having a disease yourself or seeing siblings die from that disease and knowing that nieces and nephews have the disease? But I took on this mission. I don’t do it to show off. I do it because it makes me feel good. I don’t have the disease, but I can help.”

Edília at her home in Brasília, April 24, 2016 (photo by Gene Veritas)

Unconditional love for the stricken

The meeting at Edília’s home was the largest family gathering I have encountered in nearly two decades of HD advocacy. After warm introductions, we sat in a circle in the living room. With Edília’s prompt, I began the meeting. I explained that my mother died of HD and that I carried the HD gene.

For the next two hours, as we shared our stories, I witnessed the deep pain that HD has wrought on the Miranda family and their courage to fight back.

Edília’s sister-in-law Izaura Maria Soares Miranda lost her husband, Genésio Miranda, to HD. They had three sons and a daughter. All three sons developed HD. The oldest, Marcus Vinícius, died nine months ago, at 46.

“The disease started in him at age 32,” Izaura said, still deeply stricken with grief. “I took care of my son for eleven years. I saw him die little by little. I didn’t want him to die. I’m still mourning him. A piece of me is missing.

“No mother deserves to go through that, to lose a son. I know he’s now at rest. He suffered a lot. But that doesn’t diminish the pain.”

Seeing her other sons devastated by HD has multiplied her suffering, said Izaura, 65, an attorney who has testified about HD in the Brazilian Congress.

“In the next incarnation I don’t want children,” she insists. “I don’t want to suffer. I love my children unconditionally. I raised them alone and continue to care for them alone. So I’d kill or die for them. In the next incarnation I don’t want to suffer.”

Edília's nephew Félix (left), friend Estela, sister-in-law Izaura, and niece Samantha (photo by Gene Veritas)

The other relatives present revealed many other difficult HD challenges: caring for parents and children stricken with the disease, pondering genetic testing, and pooling resources to aid affected relatives unable to earn a living, including one symptomatic woman with young children.

In the words of one niece, Edília has “mobilized the entire family” to assist relatives in dire need because of HD.

In another example of unity, Edília noted the regular collaboration between the UPADH and ABH. The two organizations emerged independently of each other based on the needs of the families they serve in their particular regions of Brazil.

The Mirandas make history

According to Edília and a 2009 news article on the family, in 1995 the Mirandas became the first Brazilian family to undergo genetic testing for Huntington’s disease. Scientists identified the disease-causing gene in 1993, making such a test possible.

Advised by a neurologist in Brasília, the extended family pooled its resources and paid about $80,000 for the tests, done in a lab in another city. The family elected Edília to receive the results for the entire family.

Very quickly, most of the family regretted the decision to get tested: HD was untreatable, so what good did it do to know? Edília knew she had tested negative, but at the time nobody else in the family wanted to learn the results. So Edília didn’t share the documents with anybody.

Worse, at the time Brazil lacked protocols for genetic testing. Such protocols include a waiting period before collecting the DNA sample, as well as genetic and psychological counseling.

The Brasília neurologist simply handed over the test results with no additional information, Edília recalled.

“As a consequence of that, big changes were made in way test results had to be delivered,” Edília said.

In 2008, Edília removed the genetic test documents from the safe in her house and burned the results of those who had tested positive for HD but didn’t want to know their status. Edília had memorized the results; at the April meeting, she discussed some of them openly.

“Yes, I burned them, because looking at them brought great suffering,” Edília wrote after our encounter in Brasília. Without psychological support for the family or the hope of treatments, “I felt at rock bottom,” she recalled.

Anxious to end the ‘nightmare’

Today Edília and her family have greater hope.

At the meeting on April 24, the Mirandas eagerly awaited news on the latest HD clinical trials. They were excited to meet an advocate from the United States, where the HD cause is relatively strong and many companies and universities have labs focused on finding treatments.

The Mirandas especially wanted to know about the Ionis Pharmaceuticals Phase I HD gene-silencing clinical trial currently in progress in England, Germany, and Canada. I reported that the first group of gene-silencing volunteers had safely completed their portion of the trial, and that the chief HD drug hunter has expressed confidence that effective HD treatments will eventually appear (click here to read more on these developments).

The family hopes anxiously for a cure to be freed of the “nightmare” of HD, said Jucilene, a niece who struggled terribly with fear before testing negative in 1995.

Noting that I had avoided symptoms into my 57th year, the Mirandas also wanted to discuss my personal strategies for avoiding the inevitable onset. We covered the gamut, from supplements to psychotherapy, exercise to healthy eating.

Gene Veritas (seated, center) with members of the Miranda family (personal photo)

I promised further news from two key, Portuguese-speaking members of the effort to develop HD treatments: Celina Zerbinatti, Ph.D., vice president for biology at Evotec, a Germany-based drug discovery company partnering with CHDI Foundation, Inc., the nonprofit virtual HD biotech, and Cristina Sampaio, M.D., Ph.D., CHDI’s chief clinical officer and one of the individuals responsible for Enroll-HD, the CHDI-sponsored global patient registry and clinical trial platform.

“You are in good hands!” Dr. Zerbinatti said in an interview aimed at the Brazilian HD community in which she outlined the efforts of CHDI and Evotec.

In another interview, Dr. Sampaio explained the importance of Enroll-HD for Brazil and urged Brazilian advocates to keep pushing for the adoption of the program in their country.

I conducted both interviews at the annual CHDI conference in February. You can watch them in the videos below.

'Vocês estão em boas mãos!' A Dra. Celina Zerbinatti fala para a comunidade de Huntington no Brasil from Gene Veritas on Vimeo.

A Importância do Enroll-HD para a Comunidade de Huntington no Brasil from Gene Veritas on Vimeo.

Enroll-HD rejected in Brazil

With large HD families such as the Mirandas, Brazil and other Latin American countries could play a pivotal role in defeating HD by providing badly needed volunteers for crucial research studies and clinical trials. The world’s sixth largest nation, Brazil has an estimated 20,000 HD-affected individuals.

However, Enroll-HD currently functions in only two countries in the region, Argentina and Chile.

In October 2015, CONEP, Brazil’s National Research Ethics Commission, rejected CHDI’s proposal to set up Enroll-HD there.

“It never occurred to us that Enroll wouldn’t come to Brazil,” Edília said. “Enroll is very important for us.”

Reconciling different standards

Advocates aim to reverse the commission’s decision.

On March 28, Edília, ABH President Vita Aguiar, three former ABH presidents, and other advocates met in São Paulo with the CONEP coordinator, Dr. Jorge Venâncio. Edília’s niece Taís, an attorney, also took part. She is at risk but has not tested for the disorder.

“We were very well received,” Edília said. “It was a very productive meeting. We wanted to know why the Enroll application hadn’t been approved.”

According to Edília, Dr. Venâncio explained that the CHDI applicants had not answered all the questions posed in the government paperwork. In addition, the Brazilian officials disagreed with some aspects of the international research study standards included in Enroll-HD.

Edília cited the example of genetic testing. In the Enroll-HD program, which collects participants’ blood samples and tests for the HD genetic defect, the participants can decline to learn their genetic status.

“With the Brazilian government, the patient has to know,” Edília said, referring to the country’s rules for research studies.

As one of Edília’s relatives pointed out, Brazil’s requirement will diminish the number of volunteers willing to offer their blood for Enroll-HD. Scientists study aspects of the blood to advance the effort to discover treatments.

For those who would participate and learn their genetic status, either Enroll-HD or the local clinics involved in the program would need to provide genetic and psychological counseling, Edília explained.

As the Miranda family’s earlier experience with genetic testing starkly illustrated, Brazil lacks an adequate genetic counseling infrastructure. A recent news report noted that this continent-sized country has only 100 geneticists, for example.

A pledge to resolve issues

Despite this and other disagreements over protocol, Edília remained optimistic that Enroll-HD would enter Brazil. She said that Dr. Venâncio pledged to help resolve all of the pending issues. He guaranteed a response to a new application within three to six months, she said.

The Brazilian advocates also await resumption of the initiative at CHDI, where the long-time Enroll-HD coordinator, Joe Giuliano, recently left to take a position elsewhere.

“The coordinator of CONEP asked us to notify him as soon as we submit the new application so that he can give it priority,” Edília said.

Long-term hopes

My trip to Brasília marked milestones in my journey as a college professor, Brazil specialist, and Huntington’s disease advocate. I also had the chance to visit my brother-in-law and his family.

From April 25-28, I helped evaluate proposals to establish research in the social sciences and humanities to be funded by Brazil’s National Council for Scientific and Technological Development. The prestigious multidisciplinary meeting of some 40 researchers from around the world widened my perspective as a scholar branching into the history of science, technology, and medicine. I hope this endeavor will enhance my ability to interpret the history of the HD cause and advocate even more effectively for it.

On the evening of April 28, for my research on Brazilian politics, I attended a turbulent hearing of the committee installed in the Brazilian Senate to consider the charges of impeachment brought by the Chamber of Deputies against President Dilma Rousseff. On May 6 the committee voted 15-5 to recommend the charges to the full Senate.

I was thrilled to have the health and clarity of mind necessary to witness this historic moment: I had always thought that by now HD would have prevented me from taking the arduous trip to my second home.

Despite Brazilians’ current pessimism about their country’s immediate political and economic future, I felt a renewed sense of hope for the long term after meeting the Mirandas.

Led by Edília, they will not rest until the day HD no longer threatens their family and the families of so many others.

Gene Veritas (aka Kenneth P. Serbin, Ph.D.) at Brazil's Congresso Nacional building in Brasília, April 28, 2016 (photo by Lucas Souza)

Memories of genetic testing: from my mom to Angelina Jolie

My family’s experiences with genetic testing for Huntington’ disease rarely stray from my daily thoughts.

The day after Christmas in 1995, I learned that my mother had tested positive for HD, a condition I had never heard of. The devastating news that she was afflicted with an untreatable, fatal disorder set me on a quest to learn all I could about it and help find a cure.

In June 1999, I tested for HD primarily because my wife and I wanted to start a family. Sadly, I was gene-positive. That information changed my life forever, altering my career path and thrusting me into a race against my own genetic clock – and for the cure.

In January 2000, our daughter tested negative in the womb – one of the happiest moments of our lives. Now, as she enters the teen years and becomes independent, I realize how our decision to test her 13 years ago has liberated her and us from ever having to worry about HD affecting her or her own potential children.

Lately, I’ve been reliving the powerful emotions of those three experiences and reflecting on how genetic testing has both provided important life-planning tools for HD families and forced them to make the kinds of difficult decisions I have made.

When I read in an HD Facebook group about someone who has tested negative, I at first become extremely jealous and even a bit angry. Then I feel relief for that individual and his or her family and send on a note of congratulations.

When I see news of a positive test, I feel the need to offer comfort and encouragement – and to redouble my advocacy efforts.

Don’t rush, sit with your emotions

An instructive lesson on the promise and perils of genetic testing came in the presentation by genetic counselor Lauren Dennis on “HD and Genetic Counseling” at the February 25 San Diego-area support group meeting.

“Basically we’re giving you a yes or no to a situation where there’s no cure,” Lauren said as the started her overview of the counseling and protocols involved in the testing process. “We’re really looking into that crystal ball to give you that information. Once you have that information, there’s no going back. We want to make sure that you’re in a good place to get that information and be able to cope with it.”

This approach stems in large part from the risk of suicide associated with HD testing, Lauren explained.

Among many key points, she emphasized that individuals should not rush into testing.

“We don’t want this to be an impulsive decision,” she said. “Sometimes people pick up that phone and call us: ‘Gosh, I just learned that Huntington’s disease was in my family last week.’”

Such people sometimes want to test immediately, she said.

That scenario starkly reminded me of my own wish to undergo testing right after learning of my mother’s test and diagnosis for HD.

However, as I learned then, and as Lauren explained during her presentation, counselors often ask people like me to first learn more about the disease and the need to plan regarding potential issues like insurance coverage, career, and family planning

“You really need to sit with the emotions and the idea of what that result would mean for you and how it will impact your life,” she continued, referring to the required one-month wait between submitting the DNA sample from a cheek swab and obtaining the results. “You need time to do that.”

Limitations

As I listened to Lauren’s presentation and the subsequent Q&A session, I recalled the many other facets of my family’s experiences with testing.

Lauren explained that each individual or family seeking counseling is unique, so advice is offered on a “case-by-case basis.”

Ultimately, genetic testing is only the start of a family’s journey with HD, she concluded.

“That’s a huge limitation of genetic testing,” she said. “We can give you the yes or the no. We can’t tell you the when. We can’t tell you what age. We can kind of gauge from the family history – it might be similar…. We can’t tell you where, exactly what symptoms you’re going to have, or how severe they will be or how long your progression will be. That is a limitation. We don’t have that magic crystal ball.”

Lauren’s presentation is an excellent introduction to testing for any HD family interested in learning more about the process. You can watch it in its entirety in the video below.

New meaning

In definitively exiting the terrible and lonely “HD closet” over the past six months, the history of my family’s three HD tests has taken on new meaning.

As an HD advocate and historian, I’ve always had concern about the impact of genetic testing on society in general.

Now, after my employer, the University of San Diego, published an official website article on March 1 about my journey with HD, I’ve begun to implement my long-desired plan to more formally explore the history of science, technology, and medicine and link with university programs relevant to that area and HD research.

Recently I met with faculty members in charge of the university’s brand new neuroscience major. This is a hot field. Projected to take in 20 students its inaugural year, the program has already attracted some 100 students interested in the major.

In a couple years, after some careful planning and lots of research, I hope to teach a course on the history of the brain, which would be highly useful for neuroscience students. Also, as chair of my department, I am helping to lead the search for a new faculty member in the history of science, technology, and medicine who could potentially build additional bridges to neuroscience and many other campus programs situated in one of the world’s leading biotech hubs.

Medical ethics

Last month, the university posted an article about a new student-designed website, Genetics Generation, that aims to provide impartial information about genetics and engage the general public in conversations about genetics and ethics.

One of the site’s ethics case studies, titled “Huntington’s Disease and Personal Autonomy,” is like a page ripped out of my family’s story: a young, gene-positive man and his wife want to test their unborn child for the HD mutation.

However, unlike our story, this hypothetical couple encounters hesitation from their doctor, who counsels against obtaining information for a condition that may not affect the child until adulthood.

The case study ends with a reader’s poll: “if you were the doctor, what would you decide?”

Click here to read the entire case study and to register your vote.

I contacted the biology professor, Dr. Laura Rivard. The students produced the website as part of her course, Ethical Issues in Genetics. Our e-mail conversation led to an invitation for me to participate in a planning meeting for a new, multidisciplinary academic concentration in medical ethics.

As the healthcare and biotech industries continue to grow, the concentration would provide students with urgently needed perspective and reflection on matters such as the transformation of the healthcare system and issues in genetics.

I will join future planning sessions and offer my expertise on HD wherever it might be useful to students and fellow faculty.

Building these larger connections via my work as a professor will help me extend my HD advocacy to new spheres and highlight HD’s pioneering role in genetic testing and genetics research.

Walking in another’s genetic shoes

This past week the often terrible impact of genetic testing hit home once again as I heard the news that world-famous actress Angelina Jolie had revealed in The New York Times that she had undergone a preventive double mastectomy because she had tested positive for BRCA1, which sharply increases the risk of breast cancer and ovarian cancer.

I imagined how difficult it must have been to have received the news of her test, but I also felt relieved to know that medicine has found a way to reduce the risks for Jolie and myriads of others threatened with the possibility of breast cancer.

“My chances of developing breast cancer have dropped from 87 percent to under 5 percent,” Jolie, whose mother died of the cancer at the age of 56, wrote. “I can tell my children that they don’t need to fear that they will lose me to breast cancer.”

For some, the option of the double mastectomy might seem extreme, and, as commentators on Jolie’s situation noted, other approaches to combatting breast cancer do exist.

However, people should not judge Jolie. She made the best decision for her. Nobody can fully comprehend her decision until walking in her genetic shoes.

Likewise, nobody should judge HD families faced with the extremely difficult issues surrounding genetic testing and procreation.

Hoping for prevention

The minute I heard the report on Jolie, I thought of my own test – and the fact that for the HD community no preventive procedure or treatment exists.

Sometimes, HD-affected individuals, gene-positive people like me, and caregivers feel like jumping at a radical solution. We do so because of hopelessness.

My chances of HD onset are 100%. To reduce that by even half would be fantastic. To reduce it to 5 percent would be a miracle.

With the rest of the HD community, I’m rooting for the current and upcoming clinical trials aimed at testing approaches such as gene therapy, which could potentially halt, reverse, and maybe even prevent symptoms.

(May is HD Awareness Month! Learn more about the cause and donate by visiting the site of the Huntington's Disease Society of America.)

SuperTerry destroys the evil monster Huntington’s disease

Fifteen-year-old San Diegan Terry Leach wants to destroy Huntington’s disease, the condition that has devastated him since his toddler years and threatens to take his life very soon.

Terry’s story deeply moved San Diego artist Lee Ellingson to imagine a different outcome. In Lee’s Superman-like comic-book-style rendition (below), Terry has overcome HD by becoming “SuperTerry.” SuperTerry knocks out Huntington’s and saves the world from the ravages of the deadly disease that afflicts an estimated 30,000 Americans and could devastate as many as 250,000 more Americans who live at risk.

SuperTerry is vigorous, powerful, and triumphant. He beams with the joy of restored health and newfound happiness that the real-life Terry – along with every other victim of HD and juvenile HD – hopes for as scientists seek effective treatments and a cure.

“Wouldn’t it be great if this Huntington’s disease was like some kind of monster and Terry had super powers and could defeat the monster?” Lee told me in an interview. “That was my idea. It just kills me that a kid like Terry can have a disease like this at such a young age.”

Lee recently learned of Terry because of his own son Arnold’s struggle to live. Terry and Arnold attend the same after-school care program for disabled children and teens.

Arnold, who turns 13 later this month, was born hydrocephalic, a condition once known as “water on the brain.” He had an emergency operation immediately after birth to insert a shunt that drains fluid from the brain. He has had 23 more operations to adjust the shunt. Arnold also has autism and cerebral palsy.

Although Lee has made drawings for Arnold, SuperTerry is his very first piece illustrating a disease. He was shocked to learn that HD can affect children.

“He’s aware of what’s going on, but his body doesn’t do what it should be doing,” Lee, whose work includes background layout for the 1990s TV series Attack of the Killer Tomatoes and pieces for the San Diego Museum of Natural History, said of Terry. “That’s what’s especially heartbreaking for me. He’s a normal 15-year-old kid inside.”

Lee imagined the monster by thinking of the horrors of HD.

“He’s kind of like a blob,” Lee said. “He’s transparent and green. Slimy! I just wanted him to look real mean.

“I’ve always been pretty religious, but seeing all these kids really tests your faith,” Lee continued. “Kids like Terry and Arnold are the closest things on earth to an angel. Terry will never steal or cheat or rob or hurt anyone.”

Lee made the illustration based on photographs. On August 2 the two met in person for the first time at a fundraising event for the San Diego Chapter of the Huntington’s Disease Society of America (HDSA-San Diego). Lee presented Terry with the illustration.

“Terry was very appreciative of the picture,” his mother Angela told me. “He liked it a lot.”

Lee Ellingson (left) and Terry Leach

A feeding tube, operations, and looming death

SuperTerry HD treatments are needed now.

HD patients constantly struggle to maintain weight because they burn large amounts of calories and suffer from severely hampered swallowing. In 2010, in an end-of-life measure, the real Terry started taking meals and water through a feeding tube connected several times each day to a surgically produced hole in his abdomen. Before the operation, he weighed only 67 pounds. He now weighs 100, enough to help extend his life but still way below the average of 126 pounds for a 15-year-old male.

Terry’s body reacts to the hole as if it were an ulcer, causing him to produce large amounts of saliva that he wipes away with a towel constantly at hand. Doctors will inject botox into his salivary glands to diminish their output. He’s also gotten botox in his arms and legs to relieve pain.

Terry has undergone leg and foot operations to further relieve pain and tightness, correct deformities, and allow him, with assistance, to occasionally leave his wheelchair and walk. (For further background on Terry, please click here and here.)

Terry 

Because he can’t talk, Terry partially communicates through a language program on his iPad, which allows him to interact with people as the device’s speaker pronounces words and phrases that he selects. He takes regular classes at Madison High School, where he is starting tenth grade. Last fall he made the honor roll by carrying a grade-point average of at least 3.5. In middle school he received a number of other awards.

Terry loves computer games. During my visit to the Leach household, he played Club Penguin while I spoke to his mother for 90 minutes.

 “He’s always happy,” said Angela, a single parent who depends on Medi-Cal and other programs for financial assistance and, when she misses work because of Terry’s medical appointments and crises, the generosity of her employer, the San Diego Convention and Visitors Bureau. “He’s always wanting to give me a hug. And he’s so strong. He deals with everything and never quits fighting. He never complains, either. He’s always wanting to help. Everybody that knows Terry sees the light within him.”

However, Angela knows that, unless treatments become available very soon, Terry will die of HD. Recently a cousin of Terry’s with juvenile HD died at the age of 23. Other juvenile HD patients die in their teens or even childhood.

Angela Leach with the original drawing of SuperTerry (photo by Gene Veritas)

Raising awareness, saving the children

Knowing how little time remains for Terry, both Angela and Lee want to use SuperTerry to raise funds for HD research and increase awareness about HD and the difficult issues surrounding it.

Lee plans to expand SuperTerry into a comic strip and perhaps even a graphic novel about HD. Angela hopes to sell SuperTerry t-shirts in collaboration with HDSA.

“I don’t want any fame or glory,” Lee said. “I just want to help raise money. I want Terry to be the star.” As research progresses, science will also find ways to cure other diseases, too, he added. Such research could also benefit Arnold.

Above, San Diego Chargers football stars Philip Rivers (left rear) and Antonio Gates with Arnold Ellingson (left foreground) and Terry at HDSA-San Diego fundraiser in spring 2012. Below, friends Arnold and Terry enjoy Disneyland together.

Angela hopes that her and Lee’s efforts will help inform HD families about the option of genetic testing so that couples can avoid passing the disease onto their children through the use of preimplantation genetic diagnosis (PGD) or in the event of pregnancy – and depending on the couple’s personal and religious beliefs – early termination of the pregnancy. She wants SuperTerry to “save the children” from HD.

“I would never want another mother to go through what I did,” explained Angela, whose husband at the time (now an HD patient living in a nursing home in Indiana) did not tell her about the disease in his family until after Terry was born and the husband himself developed symptoms. HD families need to “get more proactive” about testing and family planning, she added.

“Terry’s life shows you what you face if you take a chance” by conceiving without all of the information, genetic counseling, and other resources available to HD families, she said.

“It would be best to be proactive to minimize that situation,” Angela continued. “It’s a lifelong situation. I’ve watched Terry grow up and deteriorate. There are so many challenges. We’re forever fighting.

“I don’t want his life to be in vain,” she concluded, recalling how an old friend’s son who had been in baby photos with Terry was now an imposing teenage football player. “I was happy for her, but it broke my heart. That could have been Terry. He could have been a football player. Or at least talk.”