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

[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

[Guest guest]

Hi -

Ash is still undiagnosed - we are awaiting results from Shoffner after muscle/skin biopsy and CSF, blood and urine labs.

1. Yes, he's had both abnormal and normal labs. His pyruvate has always been elevated. Lactic acid normal. Urine organic acids normal and urine organic acids (at time of illness) way out of whack but "not fitting any clear pattern".

2. Ash has never had an EEG. MRI is reportedly normal.

3. From what I understand, it is important to do labs when the kids are ill. It is also, though, important who does the labs. Shoffner told me that he didn't trust the Quest results we brought him, so I'm glad that he did the labs again. That is typical for those who truly specialize in disorders - they usually have only 1 or 2 labs they trust. (It was that way in diagnosing my other son's and my primary immune deficiency).

4. We're waiting on the skin biopsy so I don't know.

5. Since I"ve known mito might be a diagnosis, I've fought every time he's had surgery to make sure they took "malignant hyperthermia" precautions. Sometimes I had to fight to be heard by the docs, but most of the time they listened. Prior to that, he didn't have any "severe" reaction to anesthesia but has become very freaked out and behaviorally odd with Versed and some other sedation medicine. And, they take a long time to wear off for him.

Hope that helps!

Anne R

[Guest guest]

Hi -

Ash is still undiagnosed - we are awaiting results from Shoffner after muscle/skin biopsy and CSF, blood and urine labs.

1. Yes, he's had both abnormal and normal labs. His pyruvate has always been elevated. Lactic acid normal. Urine organic acids normal and urine organic acids (at time of illness) way out of whack but "not fitting any clear pattern".

2. Ash has never had an EEG. MRI is reportedly normal.

3. From what I understand, it is important to do labs when the kids are ill. It is also, though, important who does the labs. Shoffner told me that he didn't trust the Quest results we brought him, so I'm glad that he did the labs again. That is typical for those who truly specialize in disorders - they usually have only 1 or 2 labs they trust. (It was that way in diagnosing my other son's and my primary immune deficiency).

4. We're waiting on the skin biopsy so I don't know.

5. Since I"ve known mito might be a diagnosis, I've fought every time he's had surgery to make sure they took "malignant hyperthermia" precautions. Sometimes I had to fight to be heard by the docs, but most of the time they listened. Prior to that, he didn't have any "severe" reaction to anesthesia but has become very freaked out and behaviorally odd with Versed and some other sedation medicine. And, they take a long time to wear off for him.

Hope that helps!

Anne R

[Guest guest]

Hi -

Ash is still undiagnosed - we are awaiting results from Shoffner after muscle/skin biopsy and CSF, blood and urine labs.

1. Yes, he's had both abnormal and normal labs. His pyruvate has always been elevated. Lactic acid normal. Urine organic acids normal and urine organic acids (at time of illness) way out of whack but "not fitting any clear pattern".

2. Ash has never had an EEG. MRI is reportedly normal.

3. From what I understand, it is important to do labs when the kids are ill. It is also, though, important who does the labs. Shoffner told me that he didn't trust the Quest results we brought him, so I'm glad that he did the labs again. That is typical for those who truly specialize in disorders - they usually have only 1 or 2 labs they trust. (It was that way in diagnosing my other son's and my primary immune deficiency).

4. We're waiting on the skin biopsy so I don't know.

5. Since I"ve known mito might be a diagnosis, I've fought every time he's had surgery to make sure they took "malignant hyperthermia" precautions. Sometimes I had to fight to be heard by the docs, but most of the time they listened. Prior to that, he didn't have any "severe" reaction to anesthesia but has become very freaked out and behaviorally odd with Versed and some other sedation medicine. And, they take a long time to wear off for him.

Hope that helps!

Anne R