So, I haven't gotten a diagnosis yet, however, I do know what the issue is. My doctor found the defect through whole exome sequencing. It is in the 32exon, the last bit of it is coding for the wrong chemical. Plectinopathies have been described in medical journals, but I have yet to meet any adults with anything similar. Everyone with this kind of defect seems to be a child.
I have felt very lonely not knowing anyone else that has a similar problem. I am 39 years old. I am not sure whether I will die from my illness. If I do it will be in the next few years. This is basically a carrier syndrome for a fatal version of ebs called ebs-pa-md-ma. I know there is a woman in Japan who shares this mutation. Her child was born with a leg with no skin below its knee. If anyone knows anything about this condition or how I might find a doctor, I would appreciate it. Thank you.

#plectin #plec #plectinopathy #ebs ebs-pa-md-ma