We may have found part of the answer to why Cicily is so "wobbly" and has irregular eye movements (nystagmus). Cicily had a 2nd MRI of her brain last week which showed she has hypomyelination of white matter - it's the coating on the brain which helps get signals to the places they need to go. It's developed between 0-3 years old. So in Cicily's first MRI at 1 year old, the lack of white matter wasn't very significant, but now at 28 months old, it was very notable.
We still do not know why she is so deficient in white matter. Apparently it happens with certain genetic diseases or metabolic disorders. One of her neurologists has ordered a spinal tap to test her spinal fluid for various metabolic disorders and other cool, unusual things. So, we're anxiously awaiting the spinal tap and hoping it provides further answers. We're especially hoping the final diagnosis is treatable.
We'll continue to work with Cicily's 2nd and 3rd neurologists and see a 4th soon as they all seem to have different areas of expertise and hopefully together they can figure out our adorable, enigmatic little lady.
I was at first very nervous and upset about this new finding as it's affects can be pretty devastating. I actually feel good about it now though and have faith that in some way the many blessings Cicily has received will be realized. As I said before she was born, she'll grow up and be just fine, I just worry about what she'll have to go through to be fine. (I didn't have a tiny inkling of how much she would have to go through.)
4 comments:
well that is big news! i'm glad i came by the blog tonight to read about this. you are always so positive, it's very admirable.
Thanks so much for taking time to share all this information. There is so much love and caring in between the lines.
Love you guys so much - Grandpa Norm
I was talking to Chris about this the other day. I have been thinking about Cicily ever since...hoping that you will hear "treatable" news! You guys are always in our prayers and sometimes, it just means finding the right docters...Cicily is lucky to have parents that keep looking for answers. God knows what is best for our families and his children. Lots of love,
Janalyn, I know you have been looking for some answer to her mobility issues for awhile. The diagnosis sounds incredibly scary, but you are always so positive. I'm sure it will all work out. Cicily is one lucky girl. You are, as always, the best mother I know.
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