CallMe yes, that wonderful moment when a geneticist, happy to have discovered another oddity to add to his collection, enthusiasm not successfully veiled, and although kind, its very surreal and awful. I don't think we have the same from what you've said, just another horrible thing - there are so many and all fucking unfair xxx
I was first provisionally diagnosed by an orthopedic surgeon, who when taking my family history remembered a paper he'd read & thought it was a no brainer.
He laughed (not at me, because he couldn't believe he'd stumbled over me which such an obvious case of a rare condition), and said it was text book - but couldn't tell me anything else about it, other than I should find a specialist, but couldn't tell me who, or what was my prognosis, or my baby's, just that there was no treatment or cure, and I should never have had a child had I known.
It was awful, telling them about my awful, brutal, tragic family history, and him knowing what i was going to say next as it was all so clear to him, and everything breaking into pieces and rearranging the past into something completely different. Having to detail my sisters pitiful and short existence, dying undiagnosed and well, erm, abandoned by the medical establishment, watching her slowly fall apart, frightened and untreated, so fucking scared. hopes gradually dying as she got progressively worse, until she died, alone. Fuck I've made myself cry. And Ds is beside me. Sorry. Indulgent crap.
Anyway, it rewrote my whole life and family, knowing what really happened, and how many chances were missed to help her, or me too, or my son. And then after it was all confirmed. as my symptoms progressed, it was like some kind of horrible dejavu, as I saw it happen to my sister but then we didn't know why, and now, when my body fails in some new way, I can hear her, stuff she said comes back to ring in my ears. Tbh, it's like living in hell, reliving her pain, as well as my own, and watching for the beginnings in Ds, which of course, is starting, though I'm still hoping he doesn't have it so badly. Not clear for him yet thank god.
I think the only thing that could be worse is watching two children go through this. My heart goes out to you. Tearful and very genuine hug your way x