“The last five years of my mother’s life were awful,” says Sharon Friedman. Diagnosed with Huntington’s disease in 2012 after years of misdiagnoses, her mother was anxious and forgetful. Her balance worsened until she couldn’t walk. In the final stages, she lost the ability to feed herself or swallow. “She would say, ‘Why is this happening to me? I don’t understand this disease,’” says Friedman.
That’s why Friedman — who also has the gene for Huntington’s disease — has made it her mission to improve access to critical resources for patients, families and providers.
A silent history
Huntington’s disease is caused by an inherited mutation in a single gene. Each person has two copies of this gene, one from each parent; if you inherit one mutated copy, you’ll eventually develop the disease. That means a parent with the mutated gene has a 50-percent chance of passing it to each child — a statistic that Friedman, a retired math teacher, knows all too well.
While most people with Huntington’s develop symptoms in their thirties or forties, Friedman’s mother had a less severe form of the mutation; she didn’t show clinical symptoms until age 70. Because of her mother’s late onset, Friedman figured there was no rush for genetic testing.
First, she went to counseling to prepare herself emotionally for the implications of the test for herself and her family, including her two adult children. “There’s guilt, because you could give it to your kids, so families tend not to talk about it,” she says. “It’s a big problem.”
Eventually, Friedman decided to get tested. It came back positive: she had the mutation.
“I never told my mother about my results,” she says. “She would have been devastated.” Although she kept the truth from her parent, Friedman is outspoken today about her diagnosis — and the need for increased awareness and education.
Making connections
The mutated Huntington’s gene produces long chains of proteins that damage nerve cells in the brain. Over time, this can lead to movement, cognition and psychiatric disorders, which present differently in each person. While symptoms can be managed, there’s no cure for the disease itself. That said, some exciting treatments are now being tested in clinical trials.
“It’s been hard to see generations of patients and not have interventions to offer them besides treating their symptoms,” says Suman Jayadev, MD, Res. ’01, Res. ’04, an associate professor of neurology.
Jayadev is the director of the Huntington’s Disease Center of Excellence at UW Medicine. Because it’s the only center of excellence in Washington, some patients must travel for hours to visit with Huntington’s specialists. To make the process easier for patients, Jayadev’s team organizes outreach clinics in Spokane and Yakima, but they wanted to do more.
Specifically, they wanted to create online and other resources for patients and families, and to help train staff at adult family homes and nursing facilities for Huntington’s patients.
This need resonated strongly with Friedman. While caring for her mother, Friedman and her siblings had struggled to find resources in their community. Her mother’s doctors weren’t experienced with treating the degenerative condition. Her social worker was stretched thin by a heavy caseload and had no Huntington’s-specific services to offer.
For Friedman and her husband, Steve, supporting UW Medicine’s outreach efforts was the perfect opportunity to help fellow Huntington’s patients. Their gift will fund the development of a patient- and physician-focused website and staff time for the center’s nurse and social worker.
“Sharon is such a thoughtful, warm person,” says Jayadev. “Receiving a gift that was so responsive to the needs of our community was amazing.”
A healthier future
Today, Jayadev is feeling upbeat about her work in Huntington’s disease. The Friedmans’ gift came at a good time, and new, promising drugs called antisense oligonucleotides are being tested to treat Huntington’s.
Meanwhile, based on Friedman’s test results, her daughter decided to get tested, too. To everyone’s relief, her results came back negative. The family hopes that the latest drug trials will lead to treatments, and perhaps even a cure, in time to help future generations.
For now, Friedman is dedicated to helping today’s patients and their families — even those who don’t yet know they’re at risk.
“If 50,000 people in the U.S. have the gene, that means there are another 250,000 people at risk: their children and grandchildren,” says Friedman. “They’re going to need that outreach.”
