We got the results yesterday afternoon from Abby's MRI. It was okay news... not the "all clear" I was hoping for. Her corpus callosum is thin in the back. They said that her posterior corpus callosum (near the splenium) is thin but attached. Also her ventricles are even larger than expected in the region in front of the frontal horn.
Now they want to test her for a genetic anomaly and metabolic causes. They will be testing her for problems with her amino acids, oranic acids, lactic acid and pyrovate. Then they will be doing a keryotype and a Molecular based analysis. The neurologist said that it is possible she has a slight rearrangement in her chromosomal makeup. He doesn't feel that we are looking at anything severe or catastrophic but they want to know what is going on. If it were metabolic we need to know because those disorders need to be treated immediately. He also notes that either one of these things would be rare so not to expect to find anything.
So Monday we will go back to CHOP for blood work and urine test which could mean sedation and a catheter. The doc thought that we might have the results in a week. Hopefully we can figure out what is going on with her. None of it is terrible because it probably just means motor delays (which we know she has) but we have to be sure it isn't metabolic.
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2 comments:
I am thinking positively for your lil one.
Wendy
HI Kristen, I was following your blog. We use to be on a June Mom 07board after everyone got kicked off FF. I am "Aiden'sMommy" Do you by any chance remember me? We were on a group with Lillie & Crystal. Anyways, my son has agenesis of the corpus callosum. I just wanted you to know you are not alone. If you ever want to chat, please email me. Just put corpus callosum in the email title. ynjfrey@sbcglobal.net
Sincerely, Yvette
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