I have HSAN1 with the C133Y mutation, the same as the Deater family. I started having problems with my feet when I was in my teens. The doctors said that I have some kind of nerve disorder. I was tested in my 20s and told I had a congenital neuropathy. I continued to have more problems with my feet, and then with my hands including cellulites and various infections leading to osteomyelitis.
At 19 I lost my first toe, and then so on. I had a below the knee amputation of my right leg at age 40. I have no feeling in both legs at just above the knees and in my hands and arms at the elbows.
I was tested again and told I had Charcot-Marie-Tooth type 2 (CMT). When I started with a new doctor two years ago he felt that what he was seeing was not CMT, but something different. I had genetic testing done at the MGH neurogenetics lab and was told I have HSAN1. I got information from the lab about the study, and Elise Johnson told me about the Deater Foundation website. For the first time, I saw pictures of hands that looked like mine. Elise put me in touch with Ellen Deater Burns, who lives only 3 miles from me. My family does not have a history of HSAN1 or CMT. My father has been tested and does not have the HSAN1 gene. I am one of six children and the only one with this.
I am now having problems with my eyes and have been diagnosed with Best disease (vitelliform macular degeneration). I also have loss of hearing in my right ear, and I’m only 50. Can’t wait to find out what I get in my 60s! But life is good, too.