Yes, I've Tried Your Miracle Cure

I had a rash that didn’t disappear under a glass. Found out in hospital that it was this little thing called IgA vasculitis .

I’m 21 and a cis-woman. This normally affects 10 year olds and mostly boys. Doctors said it would only be here for 6 weeks and only go on my legs.

8 months later I still have it and I’ve had it everywhere from my breasts to my fingers to the undersides of my feet. Specialists yet again aren’t that interested and are pushing me off to deal with it by myself.

Literally got told by the rheumatologist “oh it’s just chronic in some people” with no extra explanation. I could get kidney damage from this!!! Is that more likely with the fact it won’t go away? How do I deal with it? What’s going to happen? I can’t even find anything detailed about what happens if you get it as an adult and it never goes away.

Obviously I’m scared and the doctors don’t even care. Like, I had pre-existing bowel issues and joint pain which can both be caused by IgA vasculitis so they’re ignoring all the issues that may be being worsened by the purpura (vasculitis)

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?

Today rheumatology got back in touch with my GP asking for bloods and to refer me to genetics.

So I've got referrals for genetics and rheumatology. I'm gonna have my bloods done and any long term musculoskeletal issues are to be sorted with a physio as I won't be put under a consultant.

I hope they'll do a heart scan in diagnosis cause I suspect I have mitral valve prolapse. Would be annoying if I had to be referred to cardiology for that and had to wait however long for that too.

The GP told me to pick up the form for my blood test today. So for some reason I have the stickers and specimen bag??? They're gonna take two samples. Last time I had blood taken I had a full on freak out and had to be held down by 2 nurses and my mum while the other nurse took the blood.

I'm worried genetics will want to take my blood too to check it's not other types of EDS which I technically also fit criteria for.

In one seminar our lecturers split the class into 2 and I had to argue why Iceland almost ‘eradicating’ Down Syndrome was a good thing. The lead lecturer used the wording of a newspaper headline and even took time to explain that eradicate is in no way the right word (despite us all knowing that).

The article was about how Iceland had much more screening for Down Syndrome and how mothers were more likely to choose abortion if their foetus was found to have it.

One of the people in the ‘For’ group with me said about how his best friend’s sister has Down Syndrome and how he felt like he was having to argue for why she doesn’t deserve to live. 

The only argument the ‘Against’ group could make was being aggressively pro-life and so against pro-choice that you’d think we were in a country where women’s rights were a fairy-tale.

My joints are failing me. My digestive system is failing me. My immune system is failing me. My cardiovascular system is failing me. My renal system is failing me. My auditory system is failing me. My reproductive system is failing me. My brain is failing me.

It's not fair! I want to mourn the life I could've led. But I also don't want to be pathetic and not be thankful for the gift of this life.