I was shocked at the amount of "new genetic diseases" kids have these days, because hospitals test for them. I mean, the treatment remains exactly the same-- spend and do what you can to help the kid thrive, grow, ad learn, etc., but somehow now we have a "name." There are NO new treatments, only names. I don't know if it's somehow comforting to know your kid will die at 12 because of "Fragile X syndrome" frankly.
I come from a genetics family but my response to the pedes doc would always be like, "WHAT? What's that exactly?" They'd list a bunch of awful symptoms. And I'd be like, oh, so the usual, "Speech, occupational an other therapies, assistive devices, respite care til the kid like, dies?" They would say.... "Yes, I mean OF COURSE we will do a neurological examination." I was like, "Uh huh, and of course it will show profound mental ......ation? I mean I saw the kid, I can pretty much estimate its IQ right now based on behaviors I see and stuff, but we will be doing lots of scans and tests? For weeks?" They'd be like "Yup.'
I'd be like, "Okay, cool, fine with me. I am glad we know the Diagnostic NAME. I guess?""
Anna
I come from a genetics family but my response to the pedes doc would always be like, "WHAT? What's that exactly?" They'd list a bunch of awful symptoms. And I'd be like, oh, so the usual, "Speech, occupational an other therapies, assistive devices, respite care til the kid like, dies?" They would say.... "Yes, I mean OF COURSE we will do a neurological examination." I was like, "Uh huh, and of course it will show profound mental ......ation? I mean I saw the kid, I can pretty much estimate its IQ right now based on behaviors I see and stuff, but we will be doing lots of scans and tests? For weeks?" They'd be like "Yup.'
I'd be like, "Okay, cool, fine with me. I am glad we know the Diagnostic NAME. I guess?""
Anna