New hope for Huntington’s
Scientists target underlying cause of genetic disease
When Michelle Herlihy, 60, started slurring her words, dropping things and frequently falling, she already knew what was wrong — it was the same debilitating disease that had claimed her father’s life.
Huntington’s disease is described as being like a combination of Alzheimer’s, ALS and Parkinson’s in one. The genetic disease causes a progressive breakdown of nerve cells in the brain impacting one’s function, movement and cognition.
Herlihy, of Marlboro, along with two of her brothers, tested positive for Huntington’s, which has no cure or treatment. But new developments are offering new hope.
Research for an advanced Huntington’s disease therapy called RG6042 showed the treatment lowered levels of a toxic huntingtin protein in cerebral spinal fluid which could translate to functional, motor and cognitive benefits for patients.
Beth Israel Deaconess Medical Center started enrolling patients in a phase III clinical trial to test the therapy this summer.
Hailed as a breakthrough, the research published in The New England Journal of Medicine was the first time scientists have been able to successfully target the underlying cause of the disease.
The symptoms typically move in four stages, each getting worse as time goes on. Herlihy, who was diagnosed this January, is in stage one — an unusually late diagnosis as most people with Huntington’s are impacted in their 30s or 40s.
“All of a sudden I had a lot of falls, I would fall outside walking my dog, in my house, in the hallways. … I would drop things, spill things, not even realizing that my hands were shaking or my legs weren’t moving right,” said Herlihy.
Herlihy also noted slurring her words and feeling dizzy, “I knew kind of in my heart that I might have it.”
“Every single year you’re worse than you were the year before, it just goes downhill,” said Herlihy. “It takes everything away from you and that’s what I fear.”
As the stages progress, patients become further impaired in their daily life, experiencing involuntary movements in the body, decreased cognitive ability and weight loss.
Ultimately, the patient is bed ridden and cannot eat. Patients with Huntington’s disease typically die within 10-30 years after the symptoms first appear, according to the National Institute of Neurological Disorders and Stroke.
“My husband and I were devastated,” said Herlihy.
Herlihy reflected back on when her father was diagnosed with the disease in 1987. When she learned it was genetic, it took a big toll, “It took me decades to come to terms with this. … I had a lot of anxiety. I had panic attacks.”
She now takes anxiety medication and focuses on exercising frequently and walking slowly and carefully.
But Herlihy is now hopeful for a cure or treatment that can slow down the disease. She is encouraged that research on treatment for Huntington’s disease is starting to pick up, which hasn’t happened since 1993 when scientists finally isolated the Huntington’s disease gene.
Herlihy isn’t slowing down because of Huntington’s though, she frequently travels and recently hiked 6 miles around the Grand Canyon.
“I’m so lucky that I’m 60 and for it to be at stage one because this is a disease that typically happens in your 30s and 40s,” she said, “so I am so, so, so lucky I am 60 and in stage one.”