We discovered my daughter's lack of myelin at 6 months of age. Most of her problems seems to have started around 4 months though. She had severe reflux from about 1 month of age followed by sleep apnea developing around 3 months. Her eyes became crossed about the same time. Around 4 months we noticed she still wasn't holding her head up and her back seemed very weak (she is considered hypotonic). Also her eyes had begun to bounce. At about 5 months her eyes just got worse and began to "dance" around. This led us to a neurologist where we found out through an MRI that she had "profound hypomyelination." We don't have any answers for why this is occurring but we are waiting on genetic labs to return. In the mean time we love her and do as much research as we can.
We recently received what the geneticist said was 90% of the labs he can do for hypomyelination. They all came back normal. The disease he thought she seemed most likely was PMLD (since girls rarely get PMD) but that was normal as well. Now we are doing a chromosome test and a carbohydrate deficiency test. Our daughter is making some gains such as babbling more, spoon feeding, grabbing toys and mouthing them, holding her bottle, etc.
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Our Journey
- By Halls
- Posted August 4, 2009 at 11:40 pm · 3 replies
- Shared with the public
- Edited September 15, 2009 at 11:37 pm
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