>>11519605After a dislocation of my neck when simply leaning my head back washing my hair a couple of years ago, I went to my GP and the now-ruptured disk in my neck + the deformations of the right side of my skeleton now being grossly noticeable at a glance led him to say I had a connective tissue disorder & referred me to a Marfans specialist, even though I don't have any of the specific symptoms you'd expect to see in a Marfans case e.g. arm length, palate height, general build etc.- So I expected I'd be diagnosed with EDS on top of my other problems and that'd be it.
At this point my right leg had gotten so warped that I could not (and can not) any longer put my foot flat on the ground and facing straight forwards at the same time, and the portion of my ribcage that was deforming is now buckled inwards and presses on my guts which hurts like fuck if I sit straight up for any prolonged period of time; if I hook my fingers under the ribcage and push hard outwards I can pop the errant section back and forth into place and feel a tremendous relieving of pressure on the affected area when I do so. This is the diagonal section of the cartilage *below* the sternum, not a pectus deformity. After the MRI I had also been diagnosed with hypotonia (alongside dyspraxia and a host of other learning difficulty-type diagnoses as part of university health assessments) which I think plays a significant role in my difficulty with physical stamina, palpitations and fatigue.
Anyway, last year my Marfans referral came up, saw the specialist, he said obviously it wasn't Marfans (as I'd expected), thought it might be EDS and asked me about my family history. None of my family have any symptoms of connective tissue disorders and the main cause of death is dementia, most of my relatives living til their 80s or 90s except one death due to TB and another due to smoking emphysema.
cont.
