Guest guest Posted January 24, 2000 Report Share Posted January 24, 2000 hi karen; just wanted to say welcome to the list. i hope you (and am sure you will) learn a lot from it... julia orion's mommy 9-18-98 to 2-3-99 familial erythrophagocytic lymphohistiocytosis and mito Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 24, 2000 Report Share Posted January 24, 2000 WElcome, karen, , & your family! i am sure you will find many valuable tidbits of information here--we have all been to some degree or the other in the same shoes you are in! please don't hesitate to chime in, ask questions, or just VENT!! looking forward to your posts ruth aka mitch (4 1.2) and lexi (22 months) 's overtired but ever optimistic mom Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 1, 2000 Report Share Posted February 1, 2000 , You are very welcome. Barbara Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 3, 2000 Report Share Posted March 3, 2000 hi , I am so glad you made it on. I know you will just love this group. these moms and dads have a wealth of info. talk to you soon. cathy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 3, 2000 Report Share Posted March 3, 2000 Hi , And welcome! I know you will find a wealth of information here on this list. My son, , was diagnosed last summer with a Complex I defect. One thing I have learned in my short tenure here is that each child/person is totally different, symptomatically and in prognosis. It sounds like your doctor is on the right path having done the muscle biopsy and starting Margaret on vitamins. What is she on? I'm glad to hear she has responded well and that her seizures are under control. It's great to have you on board - I look forward to knowing more about you. Featherstone In a message dated 3/3/00 4:40:29 PM Eastern Standard Time, lbtalbot@... writes: << From: lbtalbot@... Hi Everyone! My name is and I live in Texas. My daughter Margaret is 18 months old and has tentatively been diagnosed with Leigh's syndrome. Margaret started having infantile spasms when she was 7 months old and at that time she was mildly developmentally delayed. Her seizures are currently controlled with Vigabatrin and phenobarbital. In October she had a dramatic developmental regression and was unable to do anything, reverted to newborn reflexes, had tremmors, and no movement to speak of. She also had a great deal of trouble swallowing and sucking and stopped eating solids. We went to Texas Children's hospital and had an MRI which was severly abnormal and her lactic acid levels which her neuro has been monitoring for months are always in the 3's and 4's. The geneticist at Baylor college of medicine did a muscle biopsy and placed her on a several vitimans and we have seen great improvement. However the first set of test from the muscle biopsy looking for Melas, NARP, and various others and her respiratory chain tests came back normal. Now they are testing again this time for something called a mutation of SURF 1. The doctor also said we may not find the specific mutation Margaret has. I am very excited about this site because my husband and I are quite confused by all of this and loosing faith in the doctors because we are not getting specific answers from all of the tests. We also have a six month old son and are worried for him, although he is develpmentally doing quite well and is very healthy. I was wondering if any of you have children with Leigh's syndrome? Is the prognosis for mitocondrial disorders really as poor as everyone says? we would love any information. , mother to Margaret and ------------------------------------------------------------------------ >> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 3, 2000 Report Share Posted March 3, 2000 In a message dated 03/03/2000 1:40:40 PM Pacific Standard Time, lbtalbot@... writes: > The geneticist at Baylor college of medicine did a muscle > biopsy and placed her on a several vitimans and we have seen great > improvement. However the first set of test from the muscle biopsy looking > for Melas, NARP, and various others and her respiratory chain tests came > back > normal. Hi, - Did they do the testing on fresh tissue or frozen? It makes a big difference. It is far more likely to get inconclusive or erroneous results with frozen tissue. I am only aware of a very small number of institutions that are doing fresh muscle biopsies. This may be one reason they are having trouble obtaining answers. Normal results on frozen tissue are not definitive! There is a great article on Fresh vs. Frozen in a special edition of Exceptional Parent magazine. Here is a link: <A HREF= " http://biochemgen.ucsd.edu/mmdc/ep-toc.htm " >Physician's Guide to Mito</A > It takes some time to download the entire article, but it is well worth it!!! BTW, glad you are seeing good results with the vitamins. Is Margaret taking CoQ10, too? Good luck . . . Kathy C. mom to and (mitochondrial encephalomyopathy, complex I and III defects) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 4, 2000 Report Share Posted March 4, 2000 Hi , Can you tell me what supplements your son is on besides coQ10 and carnitine? ( also has complex 1 and 4).We are going to see Kraviecki on Monday (Shoffner's assist). Lots of questions about keto diet, supplements, behavior etc. Thanks! n. Re: New to the list > From: KnoxVolNut@... > > Hi , > > And welcome! I know you will find a wealth of information here on this list. > My son, , was diagnosed last summer with a Complex I defect. One thing > I have learned in my short tenure here is that each child/person is totally > different, symptomatically and in prognosis. It sounds like your doctor is > on the right path having done the muscle biopsy and starting Margaret on > vitamins. What is she on? I'm glad to hear she has responded well and that > her seizures are under control. > > It's great to have you on board - I look forward to knowing more about you. > > Featherstone > > > In a message dated 3/3/00 4:40:29 PM Eastern Standard Time, lbtalbot@... > writes: > > << From: lbtalbot@... > > Hi Everyone! > My name is and I live in Texas. My daughter Margaret is 18 months old > and has tentatively been diagnosed with Leigh's syndrome. Margaret started > having infantile spasms when she was 7 months old and at that time she was > mildly developmentally delayed. Her seizures are currently controlled with > Vigabatrin and phenobarbital. In October she had a dramatic developmental > regression and was unable to do anything, reverted to newborn reflexes, had > tremmors, and no movement to speak of. She also had a great deal of trouble > swallowing and sucking and stopped eating solids. We went to Texas > Children's hospital and had an MRI which was severly abnormal and her lactic > acid levels which her neuro has been monitoring for months are always in the > 3's and 4's. The geneticist at Baylor college of medicine did a muscle > biopsy and placed her on a several vitimans and we have seen great > improvement. However the first set of test from the muscle biopsy looking > for Melas, NARP, and various others and her respiratory chain tests came > back > normal. Now they are testing again this time for something called a > mutation > of SURF 1. The doctor also said we may not find the specific mutation > Margaret has. I am very excited about this site because my husband and I > are > quite confused by all of this and loosing faith in the doctors because we > are > not getting specific answers from all of the tests. We also have a six > month > old son and are worried for him, although he is develpmentally doing quite > well and is very healthy. I was wondering if any of you have children with > Leigh's syndrome? Is the prognosis for mitocondrial disorders really as > poor > as everyone says? we would love any information. > > , mother to Margaret and > > ------------------------------------------------------------------------ >> > > ------------------------------------------------------------------------ > GET A NEXTCARD VISA, in 30 seconds! Get rates > as low as 0.0% Intro APR and no hidden fees. > Apply NOW! > http://click./1/975/1/_/368657/_/952141800/ > ------------------------------------------------------------------------ > > Brought to you by www.imdn.org - an on-line support group for those affected by mitochondrial disease. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 5, 2000 Report Share Posted March 5, 2000 HI n, is actually not on carnitine at the moment - long story but basically it has seemed that each time we've tried to initiate it, his seizures get worse. A search found that indeed, Sigma Tau had published a press release that it could cause an increase in seizures. So, we are going to try it again - but not quite yet. is on CoQ10, a B Complex, Vitamin E and Alpha Lipoic Acid. I've been thinking of you and and hope you'll get some answers tomorrow. We saw Dr. Krawieki too when had his biopsy done. His neuro since the VNS implant is Dr. Flamini at Child Neurology. One day when we're down that way, it would be nice to get together with you Atlanta moms! << Hi , Can you tell me what supplements your son is on besides coQ10 and carnitine? ( also has complex 1 and 4).We are going to see Kraviecki on Monday (Shoffner's assist). Lots of questions about keto diet, supplements, behavior etc. Thanks! n. >> Quote Link to comment Share on other sites More sharing options...
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