Genetics Prep
I'm so scared about my genetics appointment. Like, will the geneticist be nice? Will they consider classical as well?
I've gone overboard preparing notes. So far it's 8 pages.
Page 1 - symptoms/signs split into: Brain, Musculoskeletal, Craniofacial, Skin, Digestive system, Reproductive system, Renal system, Cardiovascular system, Immune system and Sensory systems
Page 2 - family history, as nobody has been diagnosed but both of my parents show EDS signs so I've written down things I know about
Page 3 - hypermobile EDS criteria, things I pass highlighted in green, ones I don't in pink
Page 4 - All EDS types and how much they resemble me
Page 5 - Classical and Cardiac-Valvular criteria and again highlighted with green on what I have and pink on what I don't
Page 6 - Classical-like and Arthochalasia criteria, highlighted
Page 7 - Marfan criteria, I score 12 which suggests EDS or Loeys-Dietz
Page 8 - Loeys-Dietz common characteristics and symptoms to prove I don't have the features
I think this is probably too much but I don't wanna forget anything important and I wanna show the geneticist that I'm not some hypermobile kid that's heard of EDS and freaked out. I also want them to realise I'm a genetics student and I know what's going on, so I don't need to be babied.
Like, what happens in an EDS genetics appointment? How much prep did you do? How much do they look at family history? Will they test me for Classical mutations if I pass Classical and Hypermobile criteria?
Will my heart be scanned? Like, I suspect some issues with my heart valves. Will they refer me to a cardiologist? How long will it take to get a diagnosis?
I never got that appointment. What I got was an outdated printout telling me that being a little more flexible isn’t a bad thing.
I’ve given up the idea of anyone taking any of this seriously. They won’t even take my new condition, which is basically autoimmune, properly.
Everyone wants to be cool and rare and the first until it means you get told off by doctors because the doctor is misinformed while you can’t even get a sock on your left foot normally cause your knee is slipping so much.
Thank you for telling me it’s impossible for me to have hEDS cause my bloods are clear, now just tell that to my knee that‘s making me limp. Oh, and if you could just deal with the thing that I asked you about, that would be great.
Diabetics that go in for tummy aches don’t get told off for being diabetic.
I’m just so tired.




















