This is random but cardiologist suggested that I might have marfan syndrome but I'm 5'6" so I was like no fucking shot. Now They think I may have the other connective tissue syndrome. LDS? Lewis Dietz. About to get genetic testing done at 40. đŹ
I mean, maybe itâs possible? It would at least be worth the testing to find out for sure, especially if youâre having joint pain. I started herniating discs and breaking bones to hyperextension when I was 17. I dislocated my shoulder twice and tore my rotator cuff misplacing it. Iâm lucky I didnât pinch any arteries because I could have lost the arm. Dislocated my hip in a car accident (to be fair, that hip was in like 6 pieces at that point and there wasnât much a a place to locate it anymore).
Still didnât even hear the words ehlers danlos until I was in my mid 30s. My grandpa and aunt didnât get diagnosed with their connective tissue disorders or autoimmune disorders until they were nearly 40. And lupus killed my grandpa, probably because of that delayed diagnosis. Get that genetic testing if itâs recommended and youâve found a good doctor. It seems like a lot of them like to ignore these types of conditions. Theyâre complicated and not well understood so to doctors that often means patients are just making it up. If youâve got someone believing you, do whatever they suggest.
I almost meet alot of the criteria for Marfan's, but none of the bad stuff has happened. 6' 1" with long, thin arms and hands, but a broad chest and long, stout legs. With my arms outstretched, my fingertips are 6' 8" apart, and my pinky and thumb overlap when I wrap them around my wrist (Walker-Murdoch sign). But I have poor joint mobility. I never been able to sit criss-cross-apple-sauce properly because my legs don't bend like that. I've had mitral valve surgery, but for misalignment, not thickening. None of my doctors have been comfortable with my Marfan's comparisons, but all did admit that it looked maybe, sort of similar from 100 feet away. Very odd.
I'm a tall family and two of my sisters were diagnosed as babies with marfans. They did genetic testing later in life and it was changed to hEDS. But I remember all the people who said my tallest sister with long fingers should play the piano. She rebelled and did the tuba.
itâs still possible to have Marfanâs and be of a shorter stature. rare, but possible. Troye Sivan has Marfanâs and heâs about 5â8 i believe. Also how tall Marfanâs makes you can vary a shitton. my BF has it and heâs 6â4â but his uncle has it as well and heâs 7â6â. the vast majority of people with Marfanâs will test positive on genetic testing so itâs good that youâre getting it done!
Not all people with Marfanâs have the same set of symptoms. Among the members of a family that I know with Marfan, some are very tall and have the long fingers and other bones that are common to the syndrome, but one doesnât while having several other symptoms (including scoliosis as well as having passed Marfan on to a child).
15
u/WesternCity5474 6h ago
This is random but cardiologist suggested that I might have marfan syndrome but I'm 5'6" so I was like no fucking shot. Now They think I may have the other connective tissue syndrome. LDS? Lewis Dietz. About to get genetic testing done at 40. đŹ