Quote:
Originally Posted by yweinst
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
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I am so sorry - he is so young. My daughter was diagnosed this year with a previously undocumented DNMT1 variant of HSAN. She is 32 years old. I have never read of a case as young as your son. I have a lot of questions of course, but this is my first time on a group like this and I feel a bit awkward about seeming nosy. It has taken almost 8 years for Emma to get a diagnosis. It has been enormously frustrating. We have been lucky this last year - luck!! - to have found a doctor at the Mayo Clinic who specializes in DNMT1 variant research. He has helped clarify a lot for us.