Gemma Botting was overwhelmed with emotion upon seeing recent news about a possible treatment for Huntington’s disease. “I cried for hours. When the kids got home, I showed my daughter the article, and she started crying too,” she shared.
Her husband, Matt, was diagnosed with Huntington’s in 2011. The disease, which resembles a mix of dementia, Parkinson’s, and motor neurone disease, is generally fatal within 20 years of symptom onset. Unfortunately, Matt started showing symptoms two years ago.
The recent breakthrough revealed a new gene therapy that could slow the disease’s progression by a staggering 75%. “It feels like winning the lottery multiple times,” Gemma, 45, exclaimed. “I had come to terms with the idea of not growing old with my husband, worried he wouldn’t see our kids grow up. But now, it feels different.”
Treasure Every Moment Together
Living near Swindon with their two children, Amelie, 11, and eight-year-old Hugo, Gemma expressed they have tried to cherish their time as a family. After Matt’s diagnosis, they decided to take a year off work to travel the world, fitting in all their adventures before having kids.
Planning for a family posed its own challenges. They felt it was crucial to screen for the gene causing Huntington’s. They faced a choice: undergo a particular type of IVF where embryos could be tested before implantation or conceive naturally, testing the embryos as they developed.
They chose the latter, knowing that if the test was positive, they would have to consider termination, which happened during their second pregnancy. “We thought through our options. Not everyone in the Huntington’s community supports screening, but we felt strongly about not letting our children face the possibility of inheriting the disease. It’s unimaginably cruel,” she said.
‘Finding Hope Amid Uncertainty’
At 43, Matt is still mobile but struggles with coordination and mental health manifestations of the disease. “He has outbursts and lacks empathy. If a child gets hurt, sometimes he laughs,” Gemma explained, noting how these changes have been especially difficult for their kids to grasp. Matt had to retire on health grounds as symptoms emerged.
“In a way, we feel fortunate he reached 40 without showing symptoms,” Gemma reflected. “His mother succumbed to the disease at 40, so now there’s potential for treatment—it’s hope when we thought there was none.”
Her work as a counselor often involves supporting individuals living with Huntington’s. “I trained partially to give back to the community and because we needed the income with Matt not working. Many after testing feel hopeless, and the news about the treatment is crucial. It can inspire and uplift everyone,” she noted. She hopes the treatment will be readily available on the NHS.
The Road to Recognition
The timeline for making this treatment accessible remains uncertain. UniQure, the company behind the therapy, expects to apply for a license in the U.S. by early 2026. After regulatory approval there, the UK’s Medicines and Healthcare Regulatory Agency could expedite its assessment.
However, the therapy’s approval hinges on its safety and effectiveness, which is determined separately by the National Institute for Health and Care Excellence (NICE) regarding its affordability for the NHS. The gene therapy is expected to be costly, but previous expensive treatments have received backing, so it may not be a complete barrier. Early estimates suggest approval could occur in the first half of 2027, though uncertainties remain.
Only preliminary results have been disclosed so far. The study had a small scale with just 29 participants tracked over three years, which is not unusual for gene therapies. If validated, this treatment could also have implications for other neurodegenerative conditions.
Gemma recognizes that while there’s still a journey ahead, she harbors fresh hope for Matt’s future. “It feels like a dream now—thinking about growing old together is something I never imagined I’d consider,” she added.
Understanding Huntington’s Disease
Huntington’s disease originates from a mistake in the huntingtin gene in our DNA. If a parent has the disease, there’s a 50% chance of inheriting the altered gene, leading to the condition’s development over time. The mutation transforms normal huntingtin protein into a harmful substance for neurons.
The treatment’s aim is to permanently reduce this toxic protein through a single dose, utilizing cutting-edge techniques in genetic medicine.
