Recognizing the invaluable input from people living with Huntington’s disease, the Hereditary Disease Foundation (HDF) featured a conversation with Michael, a 62-year-old HD-affected Boston man, at its biennial conference of scientists seeking therapies for this incurable disorder.
Michael was interviewed about his HD symptoms by neurologist Diana Rosas, M.D., of Harvard University and Massachusetts General Hospital.
Titled “Living with Huntington’s Disease: Family Perspectives,” this HDF tradition of focusing on an HD-affected person took place on August 8 during HD2024: Milton Wexler Biennial Symposium. Convening some 300 researchers, biopharma officials, and advocates, the event ran August 7-10 at the Royal Sonesta Boston Hotel in Cambridge, MA.
HD usually impedes speech. I saw that affecting my mother. She died of the disorder at 68 in 2006, after two decades of symptoms, and I carry the HD gene.
Michael struggled but persistently formed words and sentences. “I pray for everybody,” Michael said, referring to the quest for therapies, during the Q&A after the interview.
Michael’s former wife attended in support of his advocacy, as did his two sons, both in their 20s.
Michael (left), who has Huntington's disease, and his physician, Diana Rosas, M.D. (photo by Gene Veritas, aka Kenneth P. Serbin)
A diagnosis in 2017
Born in Chicago, Michael grew up in Princeton, NJ. As a young adult he moved to Boston, where he studied to become a French chef. He spent a year traveling through France to master his profession. He worked in several restaurants in Boston and also at Gillette Stadium for the NFL’s New England Patriots.
Michael believes his father had HD, although he was never formally diagnosed, due to the limited knowledge about the disease as Michael grew up in the 1970s. His father was also an alcoholic. Michael’s aunt also suffered from HD and went into a care home.
Michael was diagnosed with HD in 2017.
It became ‘too dangerous and messy’ to cook
Dr. Rosas is Michael’s physician. As she noted, many lab researchers have little contact with HD-affected individuals. The interview aimed to inform them of the complex triad of symptoms and many psychosocial challenges posed by HD.
Dr. Rosas asked Michael to address questions about the first type of symptoms: movement disorders, including involuntary movements.
These symptoms, Michael explained, caused him to stop cooking: it had become “too dangerous and messy.” It also became harder to dress himself.
Typical of HD patients (including my mother), Michael has suffered several serious falls, leading to a broken wrist, ribs, neck, a punctured lung, and a subdural hematoma (a serious injury to the head). Though he had participated in research conducted by Dr. Rosas, the hematoma has prevented him from participating in clinical trials, because of a restriction by pharmaceutical companies.
“I like helping out however I can,” he said of his participation in research.
Michael, who lives alone, does have a chocolate labrador retriever that he walks.
Michael used to drink alcohol daily and smoke heavily. The drinking caused one of his falls, he said. He quit both habits. Alcohol was a “big part” of his life, he recalled, adding that he doesn’t “miss the days of drinking.”
A greatly modified daily routine
Dr. Rosas brought up another part of the HD triad: cognitive loss, executive dysfunction, and failing memory.
Michael observed that his loss of executive function prevented him from cooking, which had required preparing items and “lots of multitasking.”
Though he “can remember my bank card number,” he has ongoing difficulties with memory. He pays his cable and phone bills but has an accountant to assist with his overall finances. He still cares for two salt-water fish tanks, an activity he took up in his 20s.
Michael arises at 6 a.m., when he takes his medications: risperidone, an antipsychotic, twice daily; deluxotine for depression; and a multi-vitamin. He also takes medical marijuana.
After some small accidents, Michael stopped driving, now relying on Uber.
Overcoming impulsiveness and depression
Regarding the third part of the triad, psychiatric and mood disorders, Dr. Rosas observed that HD-affected individuals can become fixated or impulsive.
Michael agreed that this has affected him, recalling that his drinking also led him to be “very impulsive.” He also suffers from depression. Many HD-affected people become angry when faced with unexpected changes in their daily routine. Michael has also experienced this type of anger. Getting over the anger can take time, he added.
Like many of the affected, Michael also has difficulties sleeping. His drinking had exacerbated this problem.
“It’s like your mind and body are always on with HD,” he observed.
Indeed, HD-affected individuals burn lots of calories. Dr. Rosas recommends five meals per day, although Michael said he eats three to four.
Dr. Rosas interviews Michael about his HD symptoms (photo by Gene Veritas).
‘You are a hero!”
In the Q&A following the interview, Michael expanded on aspects of his life.
One has involved his relationship with his ex-wife and sons. Michael said that the divorce occurred around the time of his diagnosis and was “probably” the result of it.
Michael saluted his former spouse as “one of my huge supporters. I haven’t had a girlfriend after my divorce. We were married for 24 years.”
He said that he has “two great kids” who are “successful and happy.”
Michael also socializes with friends, some of them also divorced.
Asked about the work of the researchers, Michael said, “I love them to death.” He added that he is looking forward to new advances.
Dr. Rosas asked what most worries Michael about HD.
“I suppose going to a home, going to an assisted living situation,” he said.
His capacity to manage on his own prompted praise. “You are a hero!” declared Tacie Fox, a family advocate and co-trustee of The Fox Family Foundation (which supports HD research), leading the audience to applaud enthusiastically.
“It feels like you have somehow navigated in a way that brings you joy in your life,” she added. “We’re struggling with that with my little sister. She watches a lot of TV. I’m in awe that you, living on your own, have marshaled that inner strength.”
The key role of modifier genes
At 64, I have been extremely fortunate to have not been diagnosed with HD. It is likely that I have benefited from modifier genes and other factors.
Like the rest of the audience, I was deeply moved by Michael’s courage and perseverance in living with HD.
I hope that when the inevitable symptoms arrive, I will have the same strength as Michael.
Stay tuned for upcoming articles on the conference proceedings, including deep discussion of the key role of modifier genes in the search for therapies.
Disclosure: the Hereditary Disease Foundation covered my travel expenses.
