The question was "any other issues? No developmental delays, he's walking and crawling....."
*sudden screech of tires*
Us: "Uh, actually, yes. He has Fragile X Syndrome, so he's got some developmental delays."
*pause*
The nurse was clearly not expecting anyone to actually answer this question in the positive, so her reflexive routine and memorized script were thrown off.
Her: "Oh, is that the one where his bones can break easily.....?"
*brief stunned silence -- tide goes in, tide goes out, you can't explain that *
What we said:My private thought was rather sarcastic, so I was glad that I was looking down and playing with Henry instead while Lori handled the explanation.
"No, it's a genetic condition that's related to autism, though he's not yet been diagnosed as autistic...." (and then continued with the usual litany of FXS characteristics)
What I thought in my head:
"No, sweetheart, that's osteogenesis imperfecta; just because the word 'fragile' is involved doesn't make a leap to a conclusion appropriate."
It's getting to the point where we're encountering so many medical professionals who don't know what Fragile X is or have heard of it that I'm tempted to carry a box of pamphlets with me so that the people who are being tasked (and paid) to provide care for my children get educated in what to expect and how to deal with it.
I also don't know if my attitude is a result of looking to pick a fight, of expecting to have to explain FXS to people who, one would think, should know more than I do. But so far, the percentages are not in favor of the medical professionals.
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