Our youngest dd has always been a challenge.... it has taken a year to convince our doctors that something is really different about her. We have gotten a dx of mild CP (from the Pediatric Ortho) and a dx of Dyspraxia ( from the Pediatric Neuro). In her case I think both dx mean the same thing, she is clumsy and has some physical issues that do not seem to be normal. The mri showed what the radiologist and Ortho determined to be PVL ( damage to the white matter) and the Neuro interpreted as late myelination.
I have thought that something was different about our dd's features since the first time I looked at her. She was a homebirth and I caught her. I lifted her to my chest, looked into her eyes and thought to myself.... she has a genetic issue. My dh said the same thing to me within a few minutes of her birth, he is usually the kind of person who waits for evidence, he will tell me that I might be overreacting and that I need to relax.... he said to me that her eyes and nose looked different... her ears looked different. We compared her to her older siblings and though she did look similar there were some very prominent difference ( to us). I mentioned it to the midwives and they said she looked perfect. I mentioned it to the ped and he said she was perfect. After a few days I persisted and I was given a referral . She has never nursed like my other children and still cannot handle liquid well.
I thought that she looked like she had features similar to DS. We went to the geneticist when she was 8 weeks old. After a long discussion where the dr said that dd had no real features that she would be concerned with she agreed to test the 21st and 22nd chromosomes. When the Dr had to fill out the paperwork to send to the lab and insurance company she had to list reasons for the test.... she said that our dd did have a few features that would qualify as dysmorphic and named them: wide set eyes, low nasal bridge, long philitrum, ears that were not even and shaped differently ( not sure what the name was). She did not write that dd has epicanthal folds though she does have them. Three weeks pass and the Dr calls and says that everything came back fine. We can call for an appointment at any time if we want but she is fine.
Fast forward a year and we now have a dx that explains our dd's low tone and some of her issues. The Ped Ortho says that her tone is off, that he hasn't seen a kid with CP have low tone like her and still have the walking issues she has. Her achilles is tightening a bit but not really in the way CP does. She has intense balance issues, she walks like a drunk person and can trip over nothing. Her physical issues are there but are minor compared to the sensory stuff we are dealing with. The Ortho said that we may be dealing with a genetic issue as well, when we asked if we should return to the geneticist to test he agreed that he would.... it can't really hurt to have more information.
We have lived in a hell for the past year.... our dd is not happy very often and when she is it is short lived.The only way that we can make her happy at all is music.... it makes our dd a different child. She has a few favorite songs and they are what buy us happy. We can play music all day (classical, bluegrass, pop and classic rock) and she will be happy, if we shut it off we are dealing with a screaming mess of toddler. I cannot explain what music does for her but it is profound.... she is truly moved by music.
After reading and researching I came across Williams syndrome it really seems to be a possibility. The only issues are that she hasn't had any heart issues picked up ( though she is so combative when examined they can't really listen to her heart at all....when we had the MRI she was so hard to get a bp on they gave her sedation before getting an accurate reading. She also seems to have little cognitive delays, though without her speaking it is hard to judge what she really is getting .
The geneticist did the same thing as the first appt, she said that dd didn't have any features that would suggest issues and then put the same ones down on the paper. She sent the whole microarray out, testing for all the most common genetic issues. I just don't know what to think..... I know that it is just a matter of time before we get the results but I am wondering if anyone had similar experiences.... the not having blatant features or heart issues and still having Williams...
Thanks to anyone who made it through ;)