In 2021, Patricia Huffman retired from her career as a pharmacist to stay home full-time and care for her husband, Jon. Seven years earlier, Jon had been formally diagnosed with Huntington’s disease, though they’d known for decades it was coming.
“We had a lecture in pharmacy school on Huntington’s disease and other neurodegenerative diseases,” Patricia said. “Jon comes to me and said, ‘Well, it’s in my family, but there’ll be a cure. It happens later in life, and there’ll be a cure by the time I have it.'”
Huntington’s disease, is a neurodegenerative disease that damages the patient’s motor, cognitive and behavioral controls, which sometimes manifest as psychiatric symptoms. It’s a dominant trait that Jon said affected his grandmother, mother, brother and several other family members.
Patricia said she was so in love with Jon that it didn’t matter to her, and they went on living their lives. Now, more than 30 years later, there is still no cure.
Provided
But in late September, a preliminary report for a gene therapy treatment funded by UniQure showed serious promise of stopping or stalling symptoms for Huntington’s for positive patients in the early stages of the disease.
“We think that there’s sort of a window of opportunity, if you will, before individuals have significant neurodegeneration to potentially intervene with a disease-modifying therapy to try and prevent or delay the loss of those nerve cells,” Dr. Erin Furr Stimming said.
Furr Stimming is a professor and neurologist at UTHealth Houston, which has several patients included in the study. She has worked in the field for more than 20 years. She explained that everyone is born with the Huntington’s gene and in most bodies the gene produces a protein vital for the development of nerve cells. But in patients with the disease, a gene abnormality causes an overproduction of that vital protein, which then becomes a toxin in the brain — attacking the patient’s motor function, damaging their cognitive abilities and prompting psychiatric symptoms. It is extremely rare and affects only an estimated 40,000 Americans.
“We can’t silence or eliminate the gene, so the question is, can we modify the gene or modify the gene product? And the answer is now yes, and that’s incredible,” Dr. Furr Stimming said.
The new gene therapy treatment currently being studied administers three infusions of AMT-130 to the brain over 8-10 hours. AMT-130 works to lower the production of the protein and has been shown to stall the onset of symptoms.
The study is small, ongoing, and has not yet been peer reviewed. But the report showed that patients who received the therapy had disease progression slowed by up to 75%.
‘We’ve sort of been here before’
Furr Stimming said she is cautiously optimistic about the report’s early results.
“We want to ensure that we balance that optimism with scientific rigor,” she warned. “We’ve sort of been here before as a community.”
Furr Stimming said she remembers a pre-pandemic trial that had to stop prematurely because the early reports showed the risks outweighed the benefits for patients further along in the disease.
Bianca Seward/HPM
“I mention that because I think that just adds to the sort of caution surrounding these results, and that most of us as providers recognize that there was tons of hope and hype surrounding that trial,” she said.
Patricia said Jon was part of that earlier trial. Jon, who is now 63, has been officially battling Huntington’s since 2014, though he began to see slight symptoms as early as 2008. He doesn’t qualify for the most recent study due to several reasons, including his age and that he has already developed significant symptoms.
For Patricia the results are bittersweet.
“And I would say that that’s what every person says because, yes, it’s great, but it doesn’t help our loved one,” she said.
Since retiring, Patricia now spends her days caring for Jon full-time.
Throughout the interview, Jon repeated himself, saying, “Patricia is a gift from God.”
As Patricia helps Jon with his daily breathing exercises, Jon jokes about how the exercise reminds him of playing the harmonica, and Patricia reminisces about his days playing music.
“You try not to think about it all the time,” she said. “In fact, Jon even says a lot of the time it’s something we live with, but it’s not who we are.”
Patricia works as the Texas advocacy captain for the Huntington’s Disease Society of America. She said she has spoken with aides and staff of congressmen and senators to relay the urgency for awareness and funding research on Huntington’s.
Fighting for awareness she says comes naturally to her, but she recognizes the dark reality of Huntington’s.
“If I’m given a problem, I come up with a solution — we fix it. We’re done with it,” she said. “Huntington’s can’t be fixed. It will continue to progress, whether I do anything or not.”
Staying in the dark
The motor and cognitive decline of Huntington’s, also called HD, is reminiscent of Alzheimer’s and Parkinson’s disease. But in Huntington’s patients, they experience the symptoms decades earlier, and the psychiatric episodes can be much more intense.
“Huntington’s is unique for many reasons,” Furr Stimming said. “Not only does it affect individuals during the prime of their life, but the psychiatric symptoms can be quite severe — irritability, outbursts, impulsivity, apathy, just to name a few. And that really kind of sets [Huntington’s] apart.”
Potential patients can have predictive gene testing done before they develop symptoms to see if they’ve inherited the gene abnormality. But Furr Stimming explained that there is still significant shame and stigma surrounding the disease.
“As a result, we know that many individuals that have HD never seek care, and many families never talk about HD,” she said. “It’s sort of hush-hush.”
Patricia and Jon have two sons. Their eldest son Jacob tested negative, while their younger son Jeremy waited four years after Jacob’s negative result to get himself tested.
“I didn’t think we could get so lucky to have both of them [negative],” Patricia said. “So, I was a little bit afraid of [Jeremy] testing for fear that he would be positive. I didn’t want to know that.”
Huntington’s has a 50% chance of being inherited. Patricia explains parents aren’t allowed to accompany children when they receive the results, and said, regardless of the outcome, the experience is emotional.
Jacob ended up testing negative.
Delayed testing can be common in the Huntington’s community.
Bianca Seward
Richard in Austin lost his grandmother to the disease at age 9, and his mother passed from Huntington’s when he was 30. Richard tested positive for Huntington’s at 35. He is not a patient in the on-going study.
“It was so bad when I got tested,” he said. “I went into a depression, and it was really, really difficult for me to get up and to do anything. The only thing that kept me getting up was my family.”
Richard asked Houston Public Media not to use his last name because he isn’t public about his diagnosis. He has a nine-year-old son whom he hasn’t told yet that Huntington’s runs in the family.
He said the hope he had before the official diagnosis carried him to the next stage in life.
“I know how heavy that burden is, and I don’t want that burden on him,” he said. “I think I’m going to keep him in the dark until I can’t anymore.”
Most patients will begin to develop symptoms in their 30s. At nearly 40 and still symptom free, Richard said he feels like he is living on borrowed time. He said the anticipation creates overwhelming anxiety.
“You’re still waiting for the shoe to drop,” Richard said. “Every time you stumble, every time you stutter, or you trip, every time you feel a little off balance, or like you have a twitch, everything haunts you.”
He is the middle child of five. One of his siblings has not yet tested — and true to Huntington’s 50-50 chances — among the other four, two are positive and two are negative.
“The two of us that have it, we don’t feel any resentment, and as far as I understand, that’s pretty much the norm,” he said. “I know that my siblings that don’t have it do feel survivor’s guilt, because how can you not?”
Richard’s mother also delayed testing.
“I asked her why she got tested so late, why she didn’t want to get tested,” Richard said. “And she told me that she prayed every day that it was cancer so she wouldn’t give it to us. She prayed every day that she had brain cancer. To hear your mom say that to you [is] just devastating.”
Richard takes advantage of the time he has now. Their family has a travel bucket list, and he coaches his son’s flag football team. He’s developed a keen awareness for the small moments in life.
“I’m looking at the future all the time like this is the last car that I’m sitting in, the last car that I’ll probably ever own,” he said. “I’m doing all these things, probably for the last time. I better try to remember it.”
Furr Stimming said depression and suicide are far more common in Huntington’s patients than they are in the general population. The severity of the disease keeps her hope for the latest study grounded.
“I think this is an amazing step in the right direction,” she said. “I’m feeling protective of my patients and their families. We want to try to balance hope and hype.”
Richard is even more guarded.
“Hope is a dangerous drug, and when you lose it … falling from that high is a really, really hard fall. We live with our foot in the grave.”
Great Job & the Team @ Houston Public Media Source link for sharing this story.
