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 will see if the nerves in the skin samples from the girls already show signs of trouble. That would be a milestone: In all the decades of research, no one has yet identified the first signs of the disease. Its symptoms advance so stealthily that many people with the mutation don’t even know they have it until one day they burn themselves without realizing it or find themselves standing in snow or on a hot beach without noticing the temperature.
Being able to identify signs of the disease before symptoms arise would be huge, shifting the discussion from treatment to prevention. That’s why Eric Newcomer is so determined to keep testing his daughters as they age.
‘I told them, you guys are the pioneers in this next phase,” Newcomer said. “I want you to volunteer to be poked and prodded and sampled. Whether it be for you or for me or for future generations, this is something we need to find out.’”