Guest guest Posted July 31, 2004 Report Share Posted July 31, 2004 Skin biopsy is very simple, Zachs diagnosed his ga2. I do know it was a very minor proceedure. U rub a topical on a small area of the bum an hour before, take child to dermatologist that participates in sending it out and then they numb the area and take a small piece of skin in the tush. They may feel wierd a tiny bit later but zach had no anesthesia . It was a definate answer to the ga2 and is worth it. mkbarrow2 wrote: Hi~I am taking Madison to the nuero Monday and before he had mentioned a skin biopsy can be done there. I was just wondering how many of you have gone through that and were the results accurate? All Madison's labs have been normal but she has some "mito signs" Her seizures are finally showing on the eeg and she started meds for that but I am very concerned I should push for more testing. Thanks to all you for taking your time to help and take care~KimPlease contact mito-owner with any problems or questions. __________________________________________________ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 1, 2004 Report Share Posted August 1, 2004 Hi Kim, My son, Asher, has had blood tests, CSF tests, urine tests, skin biopsy and muscle biopsy. There were some abnormalities in some of the blood and urine test, including an elevated lactic acid, but many were normal, including the skin biopsy. The fresh muscle biopsy was what told us what was going on - Dr. Shoffner's office in Atlanta did all the testing and it was the enzymology study on how Asher's mitochondria work that showed the Complex III defect and the possible complex I defect. Had we gone only the skin biopsy and/or the frozen muscle biopsy, we still wouldn't have found out for sure that he had mito. Yet, there are people who don't get any answers from the fresh muscle biopsy either. So, I hope this helps. I do know that the search for answers is so hard. Wishing you the best on this journey. Anne R (mom to Asher - complex III defect, possible complex I defect) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 1, 2004 Report Share Posted August 1, 2004 Grace was initially scheduled for a skin biopsy, with Dr. Cohen. However by the time the appointment was scheduled, to the actual date she was deteriorating way too fast to wait for the results. We opted to skip the procedure and go straight to the muscle/liver biopsy for her. I am glad we did skip it because the muscle/liver biopsy gave us so much more info than the skin could ever have. Mommy to , , Bre-Anne, Grace, and our newest arrival is due Sept. 20 2004 http://www.BabyCountDown.com?baby= 4007 Quote Link to comment Share on other sites More sharing options...
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