Saturday, January 14, 2012

My new hero

So yesterday we saw a wonderful doctor at Children's Hospital in Pittsburg who helped us to get a little closer to an answer about why Lucy has the hypotonia and other delays. His name was Dr. Coffman and he is a pediatric neurologist who specializes in development and movement. He examined Lu and asked lots of questions and asked us to tell him anything about her that we hadn't talked about. He was very thorough and comprehensive and decided on quite a lot of tests that he would like to have done on her which is finally a relief because that is all we want is for someone to bend over backward trying to help us find the cause. He asked if her other neurologist had mentioned a condition called Angelman's Syndrome to us and he had not. The doctor explained it a bit to us and said that at this point, with all that he knows about Lucy and who she is and with all of the other test results, he said that it is what makes the most sense to test for right now in addition to some metabolic testing to determine if anything in that area could be causing the issues.

I will explain briefly about Angelman's, but there is a website called which has a lot of good, valid information. It is a disorder caused by a deletion of part of the maternal 15th chromosome. Common characteristics of the disorder (and the ones that Lucy exhibits) include: developmental delay that is functionally severe, lack of speech, frequent laughter and smiling with an extremely happy demeanor, motor impairments that can include tremulous limbs and jerky movements, an irregular EEG, excessive chewing/mouthing behaviors, and drooling, and constipation. Most of those things occur 100% of the time in individuals with the syndrome and some less frequently. They took her blood and we will have to wait 6-8 weeks for the tests results for Angelman's to come back and the metabolic ones will be back within a week or two. The other genetic condition that could be a possibility is called Rett's Syndrome. The doctor said this one is less likely, but it cannot be tested for until the Angelman's test comes back.

So we do not yet know what the cause is, but we have naturally been doing a lot of reading on the two different disorders and the prognosis for both includes it being a lifelong situation with varying levels of severity from mild to profound, from being able to use some words and signs and learning to walk, to possibly not ever being able to learn to do either. When I worked as an early intervention special instructor I knew a little girl whose parents were told by the doctors that she would probably not survive even a couple of days, if she lived at all and their recommendation was to terminate the pregnancy. When I left that little girl it was because she was turning three and had "graduated" from early intervention because she was too old. Her grandma was teaching her to walk. So regardless of what the doctors say the future might hold, I believe we will decide what Lucy's life will be like.

And now we wait, just like we have been waiting, but with a possible diagnosis. One that we will have to be brave and strong, and rational for. It's going to be a long couple of months.

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