Re: To muscle biopsy or not to? Please help!

[Guest guest]

I have two affected children; Asenath (4) and Zipporrah (5 months). We did a muscle/skin biopsy along with a G-tube placement for Asenath in March of 2003 and probably will be doing the same two procedures (plus probably a fundo-wrap) soon for Zipporrah. Here are my answers to your questions. Hope they help some. 1. Asenath had abnormal labs before her biopsy (and since) and Zipporrah has had abnormal labs as well. If you want more specifics, feel free to ask. 2. No abnormal movements that can't be explained on EEG here. Abnormal backgrounds have been seen in Asenath's EEG's (She has petite mals for sure) and Zipporrah has had seizure activity (pretty positive as therapist saw some) that hasn't shown up on EEG. 3. Dr. Whiteman says taking labs during illness is the best time to do labs as things show up more frequently when ill and also you can get an idea of how bad they get during illness. It can be important to do labs when ill so you can treat potentially dangerous issues that show when ill such as acidosis. 4. We did the skin biopsy and the muscle biopsy and we had non-specific results. The assumption was Mito from different things noticed, but no specific Mito name. 5. We have had reactions from anesthesia. Asenath cannot use the inhalation type as she has hysteria before becoming conscious. She has a very hard time waking up. Stats change as well causing some concern. Zipporrah had worsening of her swallowing issues due to the anesthesia and possibly the tube used for breathing. Whether to do a biopsy or not is a hard decision. If it was just for biopsy, I am not sure I would do it, but since we have needed the G-tube placement, we went ahead and had the biopsy done while Asenath was already out. Same reasoning for Zipporrah. Dr. Whiteman wanted to hold off till she was older, but since she needs the g-tube, we will do the biopsy and hope this time will tell more than last times. Best of luck with whatever you decide. Darla: mommy to Asenath, Zipporrah, and the gangPlease contact mito-owner with any problems or questions.

[Guest guest]

I have two affected children; Asenath (4) and Zipporrah (5 months). We did a muscle/skin biopsy along with a G-tube placement for Asenath in March of 2003 and probably will be doing the same two procedures (plus probably a fundo-wrap) soon for Zipporrah. Here are my answers to your questions. Hope they help some. 1. Asenath had abnormal labs before her biopsy (and since) and Zipporrah has had abnormal labs as well. If you want more specifics, feel free to ask. 2. No abnormal movements that can't be explained on EEG here. Abnormal backgrounds have been seen in Asenath's EEG's (She has petite mals for sure) and Zipporrah has had seizure activity (pretty positive as therapist saw some) that hasn't shown up on EEG. 3. Dr. Whiteman says taking labs during illness is the best time to do labs as things show up more frequently when ill and also you can get an idea of how bad they get during illness. It can be important to do labs when ill so you can treat potentially dangerous issues that show when ill such as acidosis. 4. We did the skin biopsy and the muscle biopsy and we had non-specific results. The assumption was Mito from different things noticed, but no specific Mito name. 5. We have had reactions from anesthesia. Asenath cannot use the inhalation type as she has hysteria before becoming conscious. She has a very hard time waking up. Stats change as well causing some concern. Zipporrah had worsening of her swallowing issues due to the anesthesia and possibly the tube used for breathing. Whether to do a biopsy or not is a hard decision. If it was just for biopsy, I am not sure I would do it, but since we have needed the G-tube placement, we went ahead and had the biopsy done while Asenath was already out. Same reasoning for Zipporrah. Dr. Whiteman wanted to hold off till she was older, but since she needs the g-tube, we will do the biopsy and hope this time will tell more than last times. Best of luck with whatever you decide. Darla: mommy to Asenath, Zipporrah, and the gangPlease contact mito-owner with any problems or questions.

[Guest guest]

1. Did your child have normal blood/urine tests before the biopsy?2. Does your child have any abnormal eeg movements that cannot be explained?3. Should we repeat lab work at the time of an illness?4. How many did the skin biopsy and what were the results? Were they different from others?5. How many of your kids have had bad reactions to anesthea? What were the reactions?

1. Yes, had everything normal...if I had seen such a decline in his abilities and fought to find an answer, I guess he would have died and not known why. We never had much of the metabolic stuff either...almost all neurological and his brain was really affected which I think explains why he went so quickly...or he had a luekodystrophy with the mito and that explains it.

2. had abnormal EEGs but not clear cut siezures. He had activity in the frontal lobe which indicate behavior issues and background slowing which are indicative of a metabolic disorder.

3. Yes you should...because so many do show up then. Interestingly didn't ever have an illness after he started symptoms of mito...but I was psycho-crazy about germs! LOL

4. We did the skin biopsy with the muscle...many people dont' get any or clear results from skin and then go on to do muscle. Some get results and still go on to muscle and some just do skin...its up to you.

5. had reactions to versed (sedation med)...but as soon as it looked like he had mito, I printed off the anesthesia article on the UMDF site and just told them to take the Malignant hypothermia precautions. Its really no big deal for them to do it...they still have THREE choices of types of medicine to use for anesthesia, so its no big deal. Actually these precautions are thought to be a good idea with any neuromuscular disease and anyone with a NMD should avoid sedation.

hope that helps.

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 2 with very very mild Cerebral Palsy.www.HeartLiftersGallery.com