The purpose of this blog is to keep everyone updated on our family and the management of Eve's mitochondrial disease.
Wednesday, October 31, 2007
halloween
Here are some Halloween pictures of Eve. You can see how thrilled she is with the holiday. We went to downtown Watkinsville to see all the trick or treaters getting candy from the stores. She seemed to like looking at the costumes and got lots of "Look at the cute baby" comments from other people. I guess because I had to push her in the stroller she looked a lot younger. It was tough to see kids younger than her walking around in their costumes.
The neurologist also called today. It was good to talk to him. He went over the MRI results (nothing new...all looks good). He said there still is a possibility that she has CP and is among the 40-60% of those with CP that there was no known cause of it. Then he said that there is an option to do further genetic testing (other than the basics that the pediatrician ordered last year) and and mitochondria testing. He said they will probably do a muscle biopsy and while Eve is under anesthesia, might decide on other tests. However, that testing might not tell us anything. We may go through all of that and still be no closer to a diagnosis. I told him that we would still learn something - even if it's just ruling things out. He told me that all the time he has this discussion with parents to warn them that they still might not find anything, and when they don't, they ask him why they went through all that testing. So, he said if I ask him that, he will remind me of this conversation. I laughed and said that was fair. He is going to talk to a Dr that he used to work with at Emory (that is since in private practice in Altanta) who is a geneticist, neurologist, and mitochondrialist (is that a word?). Anyhow, apparently he is the MAN. He's the only guy in the southeast that does this. The neurologist will share Eve's case with him and set up an appt for us to see him. He will know what tests to order,etc. So, I got off the phone feeling very relieved. I'm still in a bit of a funk (touched off by yesterday's traumatic blood draw), but that's one less thing to worry about.
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