My son is 7 years old and has had symptoms his whole life. He was finally clinically diagnosed with Hereditary Sensory Autonomic Neuropathy on Friday. We know that he doesn't have a known phenotype.

The diagnosis was made via nerve biopsy and clinical symptoms. He has stripping of his myelin sheathing.

His symptoms include significant dysmotility, reverse motility, autonomic dysfunction, central sleep apnea, connective tissue issues, and color blindness. There are other issues but those are the major issues.

We have looked for many years and he has stumped doctors. I wasn't expecting an answer this week and so am in a little shock that we have at least a physiological understanding of what is going on.

We will be going through whole exome sequencing to find the genetic marker for my son's disease.

Does anyone else have HSAN that does not fall into the typical forms?

Thanks,

Yael