Hi All, Well, DS7 has been diagnosed with Ehlers Danlos by a genetist this past week. When we went to the neuromuscular clinic the doctor seemed to feel that DS's hypotonia was secondary perhaps to a connective tissue disorder because of his hypermobile joints. She referred us the connective tissue clinic. On Wednesday, we finally had our appointment and Dr. at the connective tissues clinic diagnosed him with Ehlers Danlos. She said it's quite mild but we need to have his heart looked at and monitored (incidently, or maybe not so incidental, mitrol valve issues, leaky heart valves, etc. run strong in my husband's family). I am not sure what to think as no one seems to run any kind of tests - they docs just look at him and talk to us for an hour and make these diagnosis. I know they see A LOT and know their stuff but still it just seems bit 'unscientific' to me. Nevertheless, now that I know what it is, it does seem to fit well albeit mildly. Doc was very nice - her son has dysgraphia and dyslexia (he's 16) we were chatting about that stuff (we were speculating that my DS has two things going on - mild ehlers danlos hypermobility type affecting his joints and this affecting his physical abilities to write for example and probably dysgraphia/dyslexia too). Anyway, just wanted to update y'all. I'm sad he has this but relieved to know the 'cause' and relieved that it is not something more difficult and that it is "mild." Anyone else here with a LO with this diagnosis?
Last edited by Irena; 06/10/13 08:01 AM.
