Last week we finally received the results from our baby's genetic testing (the chromosome micro-array test). And the final results were.....
All 100% normal.
An occasion both for rejoicing and for puzzlement!
The conclusion, then, is that we have a child with definite problems, but nothing that is genetically-caused (or that can be detected by modern technology).
Thus, our six month search for answers has now officially turned up empty. We have a child with severe developmental and neurological delays, and a host of doctors and tests and labs have failed to show any causative factor or definable syndrome or malady. He's got us all stumped, that little one does!
Over the next two weeks, we have four doctors' appointments - check-up with our normal ped, genetics, neurology, and GI (the last three are follow-ups to labs or to initial appointments).
My hope is that these coming visits, rather than initiating further testing, will be a sort of "shutting down" of the medical machine. Baby has been prodded and poked and scanned within an inch of his life; we now know a lot about him, though we don't have any real answers. At this point, we're ready to stop and just treat symptoms through therapy. We don't feel a need to forge ahead to a diagnosis. We would like to wrap up things with these doctors and then just go in for occasional check-ups. The last six months of constant labs, tests, hospital visits, and doctors' appointments has been exhausting - and since baby is healthy, apart from his delays, we're ready to slow it down and just get on with our life as a family. Baby is receiving therapy right now, and will probably get help with speech and academics when he gets that far, and that seems to be all he needs.
This past year has been quite a roller coaster with our little fellow! We've gone from "we have a healthy baby!" to "hmm, something doesn't seem quite right," to "hmm, something really doesn't seem right" to "oh crud, something is really wrong here," to "okay, well, it's a mystery we're just going to have to live with."
But we're so thankful that it isn't worse and that he is such a healthy, happy little chap.
Right now my goals are to get him crawling by 24 months and walking by 36 months. Not that I'll be upset if we don't meet those goals, but those are just vague dates to shoot for. Will we make it? Not sure.
Tomorrow is our appointment at Genetics, so we'll see where things go from there.
Happy New Year, everyone!!!!
I have a friend who's 3rd child is one like yours. Though his Head MRI was actually normal and his Genetics profile was NOT - so finally at 18 months old - over a full year since they'd started noticing problems and running every test in the book - they have a diagnosis. But, the trouble with a genetics diagnosis is that there is No treatment. NOTHING to fix. It just is what it is. All those people in our pasts that were the "weird" or "off" relatives - probably what they had too, just no way back then to test for it. So, I guess what I'm saying is, as a the friend of a mom like you, you have my empathy. I haven't yet figured out how old your son is, but hopefully you'll get more firm, more "real" answers soon, and that those answers will be for things that are treatable. Anyways, thanks for letting me stumble upon your blog and leave a comment. ~Lisa in GA
ReplyDeleteHi, Lisa! Thank you for your sweet comment and encouragement! It definitely is a long road - I had anticipated a month or two from initial visit to diagnosis, but we're now headed toward the 6 month mark with no end in sight. Our baby is 16 1/2 months old.... He has had various issues from birth, but I didn't start noticing that he was behind on his milestones until 4-6 months, then wasn't concerned until around 9 months, and seriously concerned around 11 months. More and more issues are coming to light the older he gets, but whether or not we'll ever get a diagnosis is, at this point, anyone's guess! But thank you so much for your insight and encouragement! :)
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