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
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Hello, I developed symptoms of Hereditary Sensory and Autonomic Neuropathy Type 1 “due to a T399G missense mutation in serine palmitoyl transferase” when I was 27. I am currently 52. My symptoms started in both feet and my symptoms include numbness, tingling and pain in the feet and hands. I experience motor symptoms such as weakness and loss of muscle particularly in the lower leg and feet muscles. I wear Ankle Foot Orthotics to support the drop foot. Within the past 10 years my hands and fingers have also been affected. I have had partial loss of fingers due to minor injuries where I cannot feel pain and cellulitis that has caused severe damage to my fingers. The slow-healing wounds on my fingers have developed into chronic ulcerations. I have had cellulitis many times and had many surgeries and partial amputations of several fingers.
My mother had HSAN. Her father and his mother also had it. (Helen’s family called the disease “Clark’s disease”, the last name of her great-grandmother). My oldest brother has it; my sister, does not have it. We were all born in England. Elise A. Johnson (Dr. Eichler’s research coordinator) put me in touch with Marsha Wall
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