Guest guest Posted April 11, 2005 Report Share Posted April 11, 2005 Barb this is a tough one. I guess the first question I'd ask myself, and I had too, was why are we doing another biopsy. What will we learn and what would it change...what would we gain...and then determine if the procedure is justified....would with whatever you'd learn, change anything you are doing now? Would a blood test/dna info be good enough for a start It is such a hard decision. Trust your heart and you'll do the right thing. best regards, rosy, mum to max Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 11, 2005 Report Share Posted April 11, 2005 Hi all, just received a call from Matt's neuro/metobolic specialist, Dr Marks, he got the mtdna blood work results back from Athena diagnostic lab, and they could not find the point mutation, and now we are looking at doing a 2nd muscle biospy. I know that back in 1998, when they found ragged-red fibers via biopsy, and white and gray matter lesions via Mri, and some abnormal blood work, they were not as knowlegdable as they are today about mito. With Matts recent regressions and progression of mito, they really want to know which mutation we have. Expessially for Matt, so they can figure out what is going on with him, with abnormal blood levels, and two new white matter lesions, more fatigue and migrains. Doc still feels we are looking at MELAS, so to do biopsy or not to do biopsy is the question. But even if they do find out by doing another muscle biopsy, what will we be achieving here. Will it give them answers to stop these lesions from forming?? Will they be able to get him back to baseline health again?? Matt is just starting to get back to baseline just from being under anesthesia for his last MRI. Also got a call from Matts special ed teacher last week, we will be getting together to do next years IEP, they also suggested, since Matt is having a hard time writing/printing at school and at home, that he will need a typing apperatis for school and home, and they noticed he needs OT and PT again. When it rains it pours!!! Dr Marks is finally starting Matt on Carnitor, but does not want to start Matt on q-10 yet, he said not until after the biopsy. Im really struggling with this decision, i just dont want to put Matt through anymore testing, expecially invasive testing. He has been through so much, i wish i would wake up and this all be a bad dream, for all of us. Any opinions or suggestions would be appreciated. Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 12, 2005 Report Share Posted April 12, 2005 ugh... im sorry. I have made the decision for us that unless further tests (MRI, biopsies, etc) will possibly have any impact on how we treat him, I wont consent to it... basically if they want to do tests to satisfy their own curiosity, they will have to do them on someone else... Will doing another biopsy and possibly determining the point mutation have any affect whatsoever on Matts treatment? Will it change their approach to things in any way? I would have this conversation with him before you decide anything... if its purely for their curiosity, you need to decide if its that important to you to know... for us, (totally a personal decision) we know he has mito, we know what to do for it, we know that no matter what the MRI would have said, treatment would stay the same (for now, hes not progressing currently, if things changed likely my thoughts on the MRI would too), so we chose not to go through with it for now. I hoep you guys are able to come to a decision your all comfortable with, and I hope Matt is doing better! Keely > > Hi all, just received a call from Matt's neuro/metobolic specialist, > Dr Marks, he got the mtdna blood work results back from Athena > diagnostic lab, and they could not find the point mutation, and now > we are looking at doing a 2nd muscle biospy. I know that back in > 1998, when they found ragged-red fibers via biopsy, and white and > gray matter lesions via Mri, and some abnormal blood work, they were > not as knowlegdable as they are today about mito. With Matts recent > regressions and progression of mito, they really want to know which > mutation we have. Expessially for Matt, so they can figure out what > is going on with him, with abnormal blood levels, and two new white > matter lesions, more fatigue and migrains. Doc still feels we are > looking at MELAS, so to do biopsy or not to do biopsy is the > question. But even if they do find out by doing another muscle > biopsy, what will we be achieving here. Will it give them answers > to stop these lesions from forming?? Will they be able to get him > back to baseline health again?? Matt is just starting to get back > to baseline just from being under anesthesia for his last MRI. Also > got a call from Matts special ed teacher last week, we will be > getting together to do next years IEP, they also suggested, since > Matt is having a hard time writing/printing at school and at home, > that he will need a typing apperatis for school and home, and they > noticed he needs OT and PT again. When it rains it pours!!! Dr > Marks is finally starting Matt on Carnitor, but does not want to > start Matt on q-10 yet, he said not until after the biopsy. Im > really struggling with this decision, i just dont want to put Matt > through anymore testing, expecially invasive testing. He has been > through so much, i wish i would wake up and this all be a bad dream, > for all of us. Any opinions or suggestions would be appreciated. > Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 12, 2005 Report Share Posted April 12, 2005 Well I do not have any great advice for you, sorry. If it were me I probally would be leary of another muscle biopsy, if you already have a confirmed mito diagnosis (even though non specific). Many people have stone cold diagnosis of mito, but will never have a specific form. Our daughter is one of those cases. Dr. Cohen basicaly told us that she undoubtably has mito, but will never have a specific name because she is the first of her "type". Once they see more cases similar to hers and can explain it better it will be titiled. He told us that it will never happen in our or her lifetime. There is just so much unknown of mito, I would hesitate another surgery to get the same answers as the first. Best wishes Get the NEW version of MSN Messenger - it's FREE! Quote Link to comment Share on other sites More sharing options...
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