We were able to review Mac's MRI today and thankfully the rate of atrophy has decreased compared to the previous 6 months. There is a little more atrophy in her cerebellum (the part located at the base of the brain where the brain stem comes in) but there is only "minimal" changes in the rest of the brain. This means that it has slowed down some and we praise God for that.
We should be starting on cystagon next week which is an experimental drug that has helped some children with Battens, but not cured anything. It has to be administered four times a day but we aren't sure exactly how to get it in her yet. We will also start vitamin E, B2, and B6 with this. The cystagon study as well as other studies have shown this to be helpful, though they aren't really sure why yet. The way we understand it, the cystagon helps slow down the build up of the deposits in the cells. These deposits build up until they destroy the cell and this leads to the atrophy of brain tissue. Hopefully, the cystagon will slow Macayla's down which would be great since it is slowing down some now. This is encouraging overall.
Macayla has been measured for her wheelchair and now we wait for all of the insurance paperwork to go through. The chair will be a big help and we look forward to her getting it and being more comfortable. She had her blood work sent off for molecular testing so they can map her genes and isolate the mutated genes that are causing her Battens. We'll use this info to test Jacob to see if he is a carrier or not. That's the latest.
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