Freelance journalist Karen Weintraub attended the Deater Family Reunion in 2017 where she met members of the family with the disease HSAN1. She followed the family of Eric and Cindy Newcomer as they visited Dr. Anne Louise Oaklander at Massachusetts General Hospital to have their teenage daughters tested. She also interviewed other family members, Dr. Oaklander, and Drs. Robert Brown and Thornsten Hornomann, researchers of the disease.
Her extensive article was published in the on-line journal “STAT” on August 14, 2017
https://www.statnews.com/2017/08/14/rare-disease-neuropathy-deater/ The article, excerpted here, focuses on the hopes and challenges of the next generation.
“Eric Newcomer, whose symptoms forced him to leave his job as an electrician, wants affected families to test and track their children. He’s starting with his own. His daughters are just teenagers, but they’re already well-versed in the family tradition of submitting to medical tests. Twice this summer the girls have made the trek to Massachusetts General Hospital in Boston for an array of balance and sensory tests. In the second round of
testing, Dr. Anne Louise Oaklander, a neurologist, took a 3-millimeter bit of skin — about the size of a stud earring — from each girl’s lower leg.
Oaklander and her team
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Vera Fridman, Peter Novak, William David, Diane McKenna-Yasek, Kailey Walsh, Anne Louise Oaklander, Robert Brown, Thorsten Hornmann, and Florian Eichler.
The L-serine study supported by the Deater Foundation was presented at last year’s Deater Foundation International Symposium and at the American Academy of Neurology’s 2017 Annual meeting. The paper has been submitted for publication.
The study sought to evaluate the safety and efficacy of L-serine in patients with HSAN1. Eighteen patients with HSAN1 and prominent sensory loss, foot ulcers, or shooting pains took part. Half received L-serine and half received placebo for a year. The study was “double-blind”, so the researchers did not know which participants received the supplement and which received the placebo. Dr. Eichler at Massachusetts General Hospital and Dr. Brown at the University of Massachusetts collaborated with other researchers for the study. After 48 weeks all participants took L-serine for an additional year. 16 subjects completed the study. There were no serious adverse effects related to L-serine. Testing showed improvement in the L-serine group vs. placebo at one year and improvement in all participants at the end of the study. The study concluded that L-serine is a safe and potentially efficacious treatment for HSAN1.
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