By Henry Schwan
Huntington’s disease has scarred the Rotberg family. Debbie Rotberg died from the disease in 2015. Her son, Seth Rotberg, has it, but it’s not stopping him from living his life to the fullest.
Eight years ago, Seth Rotberg had a choice to make when he was diagnosed with Huntington’s disease.
He could live in fear. Or he could refuse to let a disease that has no cure - and is ultimately fatal - dictate his life.
He chose the latter.
Rotberg, 28, grew up in Natick, earned bachelor’s and master’s degrees, and currently lives and works in Washington, D.C.
Last month, he launched “Our Odyssey,” an organization that provides support for young adults ages 18-35 living with rare or chronic diseases. One of its features is “meet-ups” that bring people together, either in-person or online, to share their experiences of living life with a health challenge.
The idea is to get people talking so they can cope with everyday challenges, like establishing a career, family planning, and taking charge of their medical care.
Rotberg knows all too well what it’s like to face the daunting task of building a life while faced with a deadly disease.
Huntington’s disease killed his mother, Debbie, in 2015 after a 17-year battle.
The disease is a genetic disorder that causes a progressive breakdown of nerve cells in the brain. Symptoms have been described as a combination of ALS, Parkinson’s and Alzheimer’s disease.
Children of a parent with Huntington’s disease have a 50-50 chance of inheriting the faulty gene. There are about 300,000 Americans living with symptoms, and more than 200,000 are at risk of inheriting the disease.
Rotberg witnessed his mother’s deteriorating health, and years went by before her condition was properly diagnosed.
Debbie Rotberg was misdiagnosed as having bipolar disorder. She suffered from depression and slurred speech, and her loved ones didn’t know what was causing them.
Knowing the odds were split that he could inherit the disease, Rotberg had himself tested.
It took him three years to muster the courage to tell his dad, Alan, and sister, Julie, that he took that step. He tested positive when he was 20 years old. His sister hasn’t been tested, Rotberg said.
“That’s a personal choice,” Rotberg said.
The average length of survival after diagnosis is typically 10 to 20 years, but some people have lived 40 years.
Common symptoms include mood swings, forgetfulness, unsteady movements and slurred speech. Rotberg doesn’t exhibit them, but acknowledged he has “bad days” when he wonders if there will ever be a cure.
Research has made tremendous strides, according to George Yohrling, PhD. Senior Director, Mission & Scientific Affairs, at the Huntington’s Disease Society of America.
The “moment that changed everything,” according to Yohrling, occurred on Dec. 11, 2017 when Ionis Pharmaceuticals Inc. of Carlsbad, California, developed the first drug designed specifically for HD.
Ionis teamed up with Swiss-based Roche Pharmaceuticals, and they are in Stage 3 of a global, human clinical trial.
“I’m anxiously awaiting the results,” Yohrling said.
Several Greater Boston companies are also involved in HD research.
Cambridge-based Wave Life Sciences is in the midst of a clinical drug trial, according to Yohrling, and Lexington-based uniQure U.S.A. started the first gene therapy trial.
The fear of experiencing the health decline he saw his mother go through “will always be there,” Rotberg said, but he’s not letting it derail his life.
He is dating Kristina Wolfe, co-founder of Our Odyssey.
Rotberg also wants a family of his own someday, and believes it’s possible through several options, including adoption, in vitro fertilization or getting a sperm donor.
To this day, Rotberg doesn’t know if his mother knew he tested positive for HD. He never told her, and doesn’t know if his father or sister revealed the news.
If Rotberg reaches a point when his HD symptoms mirror those of his mother, he will look to his father for inspiration.
“Dad was the caregiver for mom,” Rotberg said. “Seeing his strength was inspiring. I want someone like Dad taking care of me if that ever happens to me.”
Henry Schwan is the health reporter for the MetroWest Daily News. Follow Henry on Twitter @henrymetrowest.
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