The New Doctor.
We took Celia to see a new geneticist last week. She, just like every other dr. who has ever seen her, is puzzled by Celia. Basically, Celia has Mitochondrial disease complex 1. Since she doesn't have the brain eating lesions (THANK THE LORD!) she is way too severe for just complex 1. Most kids who present like she does have Complex 1 and 3 OR complex 1 and 5. I know that means nothing to you, but she is a medical mystery because she only tested positive for complex 1. She feels that Celia is in one of 3 categories: ~She has complex 1 and the tests were skewed and she also has complex 3 or 5, which would explain the severity of her presentation. Her plan is to retest for 3 and 5. ~She has mito complex 1 AND another neuro-degenerative disease that has yet to be discovered. Her plan is to match Celia's symptoms with rare genetic disorders and test the DNA strands for each of those to see what we find. Basically, it's a field of rocks and we have to look under each ra...