CARLSBAD — It is compared to suffering from Alzheimer’s, Parkinson’s disease and ALS simultaneously.
Being diagnosed with Huntington’s disease for Carlsbad’s Jennifer Hill, 33, was a life-changing moment. Hill, though, is taking an active approach by staying involved and volunteering at the Huntington’s Disease Society of America to find a cure.
On Dec. 11 the society announced a breakthrough via Ionis Pharmaceuticals with the first successful trial to treat the underlying cause of the disease.
“It’s not a cure and I think when people hear about a breakthrough they think a cure,” Hill said. “I got involved in my early 20s … not really knowing whether or not I was going to have the disease.”
Hill, a professional clinical counselor with a practice in Carlsbad Village, said it is important to stay physically and mentally fit to combat depression and fatigue. She said she has come across numerous people who fall into depression, including her mother.
Hill’s mother, who also was diagnosed with Huntington’s, committed suicide 18 years ago and Hill discovered her body. The traumatic moment has stayed with Hill and is one reason she is steadfast in her approach in taking on the disease.
To remain healthy and mentally sound, Hill bounces around the area with a shine for water sports such as wakeboarding, water skiing and surfing. She also snow skis, is into CrossFit and on Dec. 9, ran the Huntington’s Disease Society of America Everywon 5K in San Diego in just over 32 minutes.
“They (doctors) said I have 10 years, so I made a bucket list and things to accomplish before I get sick,” Hill said. “I wanted to be an advocate. I know I’m going to be sick before I’m 40, but life can still be OK, it can be good. I feel like I can help people and tell them my story.”
Children of those diagnosed with Huntington’s have a 50-50 chance of being diagnosed and the life expectancy is about 10 to 25 years. Hill was tested at 25 and the results came back positive. Still, she married and was attempting to have children, but her tested embryos came back positive, so she decided to forgo having kids.
The disease is ruthless, she said, as it shuts down motor functions, causes dementia and eventually the patient dies. Hill, though, remains positive in her fight and works on the volunteer board of directors for the Huntington’s Disease Society of America’s San Diego chapter. She also started the Las Vegas chapter several years ago before moving to Carlsbad.
“She saw there was a need out there,” Nanette Schlarmann, regional development manager, said of Hill’s work in Las Vegas. “She’s really been such an asset to the Las Vegas affiliate, the San Diego chapter and just the HDSA community as well. She is a very happy, go-lucky person.”
Huntington’s is a rare disease with about 30,000 known patients in the U.S. The Huntington’s Disease Society of America raises funds for research and social workers to guide patients through their initial diagnosis, Schlarmann said.
Additionally, the organization partners with local hospitals and universities, such as the University of California, San Diego, to provide resources and a center where patients can gather for support.
The treatment options, though, are limited, Hill said. She said there are medications to help ease with some symptoms such as involuntary movements and depression, but those don’t slow the progression of the disease.