As some of you may be aware, for nearly a year I have been going through a potential diagnosis of Ehlers Danlos Syndrome for my youngest. It was officially first diagnosed in April last year, but previous to that other consultants had mentioned his problems could be a collagen issue, which is what EDS is. We saw a “specialist” who didn’t feel he fitted into the EDS box, but in my eyes it was because his symptoms weren’t extreme. She said, “it’s either mild EDS or he’s a little more flexible than other kids” mmm. She mentioned however that she would talk to a German Dr who was doing research on children with capillary fragility which my son has.
Yesterday I received a call from the genetic counsellor saying that the German Dr didn’t know why he leaked blood and that’s the end of that. They will follow him up in the summer.
Before he was “diagnosed” I had been complaining of joint pain to my GP. Last year I was diagnosed by a rheumatologist with fibromyalgia. I told my GP that this was a huge coincidence considering the issues with my son. He agreed and wrote to the rheumatologist and I have another appointment at the end of the month, I’m presuming to be assessed for EDS.
Last night I was woken up by pain in my shoulder. It felt as though my arm wasn’t quite screwed in right, so I wriggled it around until it was. Today I’ve felt physically fragile. Joints hurting and feeling as though they will misalign at any point.
I’m frustrated waiting for this appointment. I’m frustrated that these issues aren’t being picked up. I’m frustrated that I have to push professional Doctors to actually look at a patient when they walk through the door rather than start writing the minute they walk in and do half an assessment so that they can get you out and get the next patient in. What’s the point in getting through patients if you aren’t offering them any service whatsoever?
So all in all, today I am frustrated.