Hello,

My 7 year old son was just clinically diagnosed with Hereditary Sensory Autonomic Neuropathy. We do not know the genetic reason for the disease, although we do know it isn't familial dysautonomia or any of the other known types.

His diagnosis comes after searching for almost 7 years and came after a doctor reexamined his nerve biopsy which was done originally to see if he had mitochondrial disease.

His symptoms include but are not limited to severe dysmotility and reverse motility (requiring a g tube and a j tube), autonomic dysfunction, chronic pain, fatigue (requiring a wheelchair), connective tissue problems, and central sleep apnea.

I am in shock that we found his clinical diagnosis. Now that we know where to search we are going to do whole exome sequencing for my son and send in blood work from my husband, my son and myself.

Does anyone else have an unknown form of HSAN?

Thanks,
Yael

Hello Yael,
I do not have HSAN. I just want to say good luck with getting to the bottom of your sons issues. I can't imagine what he and your family must be going through. I will keep all of you in my prayers hopeful

Some information for you. Charcot-Marie-Tooth (CMT) can be separated into two kinds -- the "demyelinating" forms (CMT1 and CMT4) and the "axonal" forms (CMT2, autosomal recessive CMT2 , HSAN, and HMN).

Hope you find an answer.

Kitt (CMT)