Rare Disease That Took the Lives of 12 Relatives Inspires Others to Find a Cure

By In the Loop • May 31, 2018

Neurologists at Mayo Clinic were able to put a name to the mystery disease that had taken the lives of a dozen of Rachelle Dixon's relatives, and now Rachelle can help others with the condition.

First it took her great-grandfather, then her grandfather. And when Rachelle Dixon was a teenager, it came for her aunt and mother, too — a mysterious disease that marched through generations, causing hearing loss, nerve damage, dementia and an early death. "No one knew what was causing it," reports KPIX TV "or who would get it next."

Experts at medical centers near the family's San Francisco-area home were stumped. "There was no diagnostic test for a mystery illness, no support groups to turn to for help, and no medical advice on what to do next," KPIX reports. It felt, Rachelle writes in The Mighty, like "a genetic version of Russian roulette."

After Rachelle's mother passed away, two of her four siblings, Lisa and David, began experiencing symptoms of what had become known as the "family disease." And while the disease progressed just as it had for close to a dozen other relatives, before their deaths, Lisa and David would know something that those who suffered before them did not: the name of their condition. They learned the "family disease" that had devastated four generations was hereditary sensory and autonomic neuropathy type 1E (HSAN1E). "It brought me to tears because it was finally an answer," Rachelle tells KPIX.

That answer came thanks to genetic testing, which Lisa and David underwent in 2013. Those tests pointed to HSAN1E, which was first identified by Mayo Clinic neurologist Peter Dyck, M.D., KPIX reports. Dr. Dyck's colleague, Christopher Klein, M.D., built on that discovery and has become "the world expert" on the rare condition, which is a result of a mutation on a gene called DNMT1. Dr. Klein "believes unraveling the mysteries of this mutation may shed light on other neurodegenerative conditions, such as Alzheimer's and Parkinson's," the station reports.

Rachelle's brother David wanted to help advance Dr. Klein's work, and before his death "donated his body and brain to Klein and his team," the station reports. And he's not the only member of his family committed to that effort. Rachelle and her sister, Krista Hemming, have launched the HSAN1E Society, a nonprofit dedicated to raising awareness of the disease, providing support to affected families, and encouraging the research they hope will one day lead to treatment and a cure. "This is an amazing family," says Dr. Klein, who serves as a member of the organization's scientific board.

For Rachelle, who has tested negative for HSAN1E, the nonprofit might best be described as a labor of love. "I am now driven by the desire to make sure my loved ones didn't die in vain," she writes in The Mighty. "I am a survivor of this genetic game of Russian roulette, and I will spend my time making my voice be heard."

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