I want to apologise for not posting in here for some time now.. It's been a challenging time & I've just had to deal with it my way. I don't get anxious or stressed generally & I have managed not to largely. Though I do think that I have really felt a bit exhausted & worn out. I have had so much going on!
Anyway Imogen had a chromosome microallay in late December when we saw a Geneticist. He observed mild dysmorphia (she has small eyes with epicanthal folds, tiny low set ears, she is so short she isn't on the centile chart and weighs just under 10kgs, she has a long smooth philtrum {the space under her nose} a tiny mouth, widely spaced teeth. She has developmental delay that is global, gross speech delay, a funny little gait where she is led by her head...
BUT she is my beautiful gorgeous amazing baby girl who I love more and more every day. I have come to peace with knowing she is what she is & I will give her the best opportunity I can in all aspects.
The Geneticist examined all of my children & noted the marked differences - but also the likenesses as well...
Anyway the results are in. She has an interstitial deletion of 3q28. Basically meaning part of the top arm of her 3rd chromosome is missing. This results in mild to moderate mental retardation, "small people", autisitic traits, eye and ear problems & cardiac issues. Thankfully she has had a normal echo of her heart so things seem to be fine there.
It's been a lot to swallow - due to the rarity of her disorder (there are only 5 documented ) it's really difficult to compare her & have any realistic idea of her prognosis...
On wards and upwards. I have been linked with Unique which is an organisation in the UK that deal with rare chromosoomal abnormalities. As yet they have not much on Immy's problem but are looking into it for me.
Good luck with the road ahead, Deb. It's good you have some answers, and she has the best chance she could ever hope for with you, there can be no doubt!
Deb.... I'm struggling to find the right words to convey what I'm thinking but I'll try...
I guess when you have those kind of tests, even if you know *something* is up, you hope at least to get a name, a prognosis, a treatment plan or even just an idea of what you can expect. And yet you got none of those things. Just an even bigger mystery and confirmation that Immy is even more of a special little soul than you knew.
Challenging is an understatement. Possibly the understatement of the decade. Expectations give you a guide, an idea, a way to orient yourself, a sense of what's possible. They also create a limitation, by giving you a sense of what's impossible. So in a sense while you can only go deeper into the mystery, you are not constrained by a sense of what Immy can and can't achieve. Everything is open to her. Your path together will truly be one of a kind. I really feel you have been chosen for this. I can't think of a better person to take a little girl by the hand and lead her safely into the unknown.
Many hugs, prayers and thoughts for you xxx
Hun, I am so glad that at least you finally have the answers. There must be some comfort in finally knowing
I am sorry that it is such a rare condition that it will be hard to get good information about it. I can see that in some ways that might be a good thing - you can discover all the wonderful little unique traits for yourself - but in others it will be tough. I hope that you are able to find the support that you need. I know that Immy already has from you
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