This is our family's story. Hopefully you will be inspired or helped by what we are going there. One of our child has LCHAD(a metabolic/mitochondrial disease)and our other daughter is in the diagnosis process for mitochondrial disease. My husband has Multiple Scelorsis. So things are always crazy around here.
Wednesday, February 2, 2011
Genetics is so confusing!!
I talked to the doctor that did our genetic mutation stuff. He said they are going to look at Kadian's genetic mutation stuff again. He said her symptoms of bladder/bowel dysfunction isn't due to LCHAD but the fact that her long chain fatty acids are elevated makes them want to look at things again. He said there is a slim chance that she may have a gene from another chain(short,medium, or very long) that is causing her long chains to not function properly. He said they will look at things and if they can't figure it out then we should do a muscle or skin biopsy. He said this way they could also have grow the skin cells and have them to test as they find future disorders. I am praying this will give us some clarification on all of this.
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