Kylie is 3 and a half, has CDG type 1A and she and her parents Dawn and Dan and her little brother Chase (healthy) live in West Michigan.
She is very happy and loving and is attending school. So far no communication other than pointing and simple signs, i.e. bye-bye, nite-nite, eat, etc. Her favorite thing to do is rough-house! She loves it! She can sit on her own, and is starting to climb up onto furniture.
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Kylie
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At birth Kylie did not pass her infant hearing test. At 3 month's she was pronounced "severely hearing deficient". Then at Kylie's six month check-up her pediatrician said that she was "floppy". She was unable to hold up her head or even try to "push up" the way babies do. So we started a battery of tests . blood work, CAT scan, MRI and so forth. Like so many others, the doctor's could not find any answers for us they thought it might have been a virus that Dawn has during her pregnancy. By one year we saw a pediatric neurologist and he was not sure either. A geneticist said she did not think it was a genetic problem.
One bit of good news was that Kylie's hearing was improving, but would still need hearing aids. Her ENT had never seen this happen before.
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Kylie loving icecream!
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We finally asked her neurologist to refer us to the University of Michigan, which he did. So finally at 18 months of age we saw another pediatric neurologist at U of M and he suspected CDG right away (he had had one other case, but it had been diagnosed too late!). Blood work came back positive. By this time my daughter was already pregnant again. Now we were afraid for the unborn child too! A skin biopsy was done and we found out the type .. 1A. Now we had the information, but we did not really know what that meant for Kylie and her future. Via this site and the list-serv we are now not so afraid for her. It is very comforting to have so many to "talk" to.
We are fortunate, Kylie's little brother Chase was born CDG free and Kylie is very happy and fairly healthy too! We are very lucky. Her hearing has continued to improve and she now has normal hearing in one ear and slight hearing loss in the other and we have discarded the hearing aids! Kylie continues to progress and now at 3 ½ yrs can sit on her own (preferred position) and is even climbing into furniture. She has been fitted for braces to help stretch some tight tendons in her ankles and legs, and hopefully she will be buzzing around in a walker soon!
Her favorites things are grandpa, "outside", swimming and terrorizing her little brother!
Kylie just turned five April 13, 2006 and she is doing very good she just got her first wheelchair in July and has gotten really good at steering it down her hallways at school. She uses sign to communicate and can understand about twenty signs so far. She is pretty healthy she has never had problems with eating like so many have she is skinny but likes to eat and does so very well for us. Kylie has a little brother Chase who is 3 and they love to wrestle as you can see from the pictures. Kylie is very outgoing and loves to be the center of attention in a crowded room. She is very brave when trying new things sometimes a little to brave if you ask me. But if she gets hurt on something you will probably never get her back on it she remembers for a long time.
eff: 3/2005; 9/2006
