I have a mixed connective tissue disease that does not currently have a name. I was tested for marfan's syndrome and it was negitative, but did show a gene mutation. It just wasn't a recognized one. My immediate family was tested at John Hopkins for ehlers danlos syndrome but it was negitative but also showed a gene malformation. They sent my family home with tons of information on eds because even though we don't have that exact kind it is very similar to it. Anybody else have this problem? My medical problems are extensive and it seems it's hit or miss in my family as far as severity!! Any help would be appreciated. Thank you
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