A Personal Perspective: Alexis Ellsworth

My father and my grandmother are the two people closest to me that have the disease. I grew up knowing that there was something different, but it was normal for my family. I first started to experience symptoms when I was around the age of 10. It started with small spot of numbness on my feet. I wasn’t sure what to think about it. I had brought it up with my parents and they helped me keep an eye on it. After a few months of the numbness progressing, my dad took me to an IHOP and he shared his experience. He explained that my numbness might be a symptom of the disease in me. It wasn’t until I was 14 or 15 that I was actually tested for the gene during the trials in Boston. That was when I knew for sure that I had HSAN1.

My experience with HSAN1 has had its ups and downs. I have had issues in the past with wounds slow to heal. Currently I am dealing with that same thing. A fun trip to Disney has resulted in blisters that seem to be healing at a snail’s pace. I can’t always do the

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Advancing the Knowledge of Peripheral Neuropathy and HSAN1

Eric Newcomer, President, Deater Foundation, Inc.

Last year my family traveled to Boston to meet with Dr. Oaklander so that my children could participate in
some of the same testing that was performed during the L-Serine supplementation study that many Deater
family members participated in. The goal is to follow young people that are at risk for HSAN1 and gather
information about when symptoms start and how they progress. Dr. Oaklander is willing to followthem
regardless of whether they have been genetically tested, are symptomatic, choose to be treated, or
even if they ever want to know if they carry the mutation.

The Deater family is unique in that we can provide affected and unaffected as well as treated and untreated people, which could prove invaluable in the search for answers. Dr. Oaklander suggests that anyone who chooses to start treatment do so under the care and supervision of an experienced nerve specialist. Anyone is welcome to contact me at ericnwcmr@gmail.com or Dr. Oaklander at aloaklander@mgh.harvard.edu if you have any questions. A good website to check out from the Massachusetts General Hospital is www.neuropathycommons.com.

While traveling to Boston we had the opportunity to meet with a journalist, Karen Weintraub, 

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