Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 Dear , First, a belated but very sincere welcome to our group of truly caring, knowledgeable people. Since we now have three s on the list, may I suggest that we add either a last initial or a state, so as not to further confuse everyone? I am S., from Pennsylvania. I know one of the other s is from Ohio. Re your biopsy results. My results came in two batches, at two and three months' time. That was back in 1999. To nail this even more, my neuro wants me to have another biopsy, to which I have agreed. Diagnosing mito, I believe, is still in its infancy. At present, it is still an art as much as a science. A skilled and experienced clinician must put all of the pieces together, much like a jigsaw puzzle. Please listen to the logic of the excellent advice your husband gave you. And---please try not to get discouraged. For most of us, , the road to dx was at least ten years (mine was at least that), with some dead ends. It was like being in a medical labyrinth, and not one of our own choosing. If you are thinking of going to the Cleveland Clinic, I would certainly think that would be a very good idea, though you probably would not be able to see Dr. Cohen himself. I personally think he is the premier mito clinician in the US at the moment. Get all of your bx resuts in writing, and try to know exactly what they checked for. It is SO hard to be patient, but that is what I would suggest now. You know your own body far better than anyone else, , and you know that there is something not quite right---probably many " somethings " that are on the fritz. Each year brings some tiny increments in mito knowledge, but I think there is great hope, since molecular biology is probably the most exciting frontier in science today. All of us here know what it is like to be very discouraged, and often in pain, so please keep your postings coming. Good luck, and take care. Sincerely, S. Pennsylvania Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 , I can't recall whether or not your muscle biopsy was a fresh one. I don't have any suggestions, other than to discuss with the doctor about what tests were done. My biopsy was done over a month ago - and I haven't learned the results, as the doctor wants to wait until all the test results are in before putting it together. I know, of course, that they already have the results from studying the fresh muscle. Is it possible to get results so quickly? I've heard of others say that they got a tentative diagnosis of mito after a couple of weeks (just haven't seen anyone mention the opposite happening by having it ruled out) Has anyone else had that happen? Hopefully after talking to your neuro you can trust whatever the decision was - or at least feel confident that they DON'T know what they're doing (whichever way it goes - it's nice to be able to have enough information for you to make that decision). Please let us know what the doctor says once you get through to him. I hope you get a real answer soon. Maggie > hi everyone, hope your weekend was good. I just got a call from my > neurologist office and they said the doctor said my muscle biopsy was > pretty much normal and they ruled out mito. Well I am actually upset > by this, I thought for sure the " mild non specific changes " on the > report meant something. I only had my biopsy 2 weeks ago, can they > rule out mito that fast. Should I go to the Ohio hospital I heard so > much about. How can they explain the purple toes, weakness the > breathing problem, and also the aspiration of liquids that I have and > the balance issues and a whole bunch of stuff I have. > > I am just so frustrated right now, I called my husband up crying and > he said no way they couldn't of tested everything already. What > should I do now. This is been going on for 1 1/2 years now and I am > just getting so tired of this, I want answers. Anyone have any > advice. Thanks everyone for allowing me to vent, my neuro is going > to call me later. Maybe I can talk to him then. > > Thanks > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 Dear , I'm sorry about the non results of your biopsy.....When DW had his in TX, it took from January to July to get most of the results. I think a prelim came back at 4 months and then the fibroblasts, etc...took much longer. I wish there was something I could say to make the day better for you...just know you are in many folks' hearts and prayers. Love, Lynda R. Re; Muscle biopsy > hi everyone, hope your weekend was good. I just got a call from my > neurologist office and they said the doctor said my muscle biopsy was > pretty much normal and they ruled out mito. Well I am actually upset > by this, I thought for sure the " mild non specific changes " on the > report meant something. I only had my biopsy 2 weeks ago, can they > rule out mito that fast. Should I go to the Ohio hospital I heard so > much about. How can they explain the purple toes, weakness the > breathing problem, and also the aspiration of liquids that I have and > the balance issues and a whole bunch of stuff I have. > > I am just so frustrated right now, I called my husband up crying and > he said no way they couldn't of tested everything already. What > should I do now. This is been going on for 1 1/2 years now and I am > just getting so tired of this, I want answers. Anyone have any > advice. Thanks everyone for allowing me to vent, my neuro is going > to call me later. Maybe I can talk to him then. > > Thanks > > > > > > Medical advice, information, opinions, data and statements contained herein are not necessarily those of the list moderators. The author of this e mail is entirely responsible for its content. List members are reminded of their responsibility to evaluate the content of the postings and consult with their physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is automatically moderated or removed depending on the severity of the attack. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 -dear , Just wanted to offer my sympathy about the inconclusive muscle biopsy. In my 15 year(and counting) adventure with this disease I have had a load of inconclusive tests, so I can understand just how frustrated you must be. And the interpretation of tests seem to vary so much from doctor to doctor. It's not that we want to have a serious diagnosis made, just that we want to know what is the matter with us. Anyway, I hope you have a good talk with your neuro and that he comes up with some good suggestions for you, Celia-- In , " " wrote: > hi everyone, hope your weekend was good. I just got a call from my > neurologist office and they said the doctor said my muscle biopsy was > pretty much normal and they ruled out mito. Well I am actually upset > by this, I thought for sure the " mild non specific changes " on the > report meant something. I only had my biopsy 2 weeks ago, can they > rule out mito that fast. Should I go to the Ohio hospital I heard so > much about. How can they explain the purple toes, weakness the > breathing problem, and also the aspiration of liquids that I have and > the balance issues and a whole bunch of stuff I have. > > I am just so frustrated right now, I called my husband up crying and > he said no way they couldn't of tested everything already. What > should I do now. This is been going on for 1 1/2 years now and I am > just getting so tired of this, I want answers. Anyone have any > advice. Thanks everyone for allowing me to vent, my neuro is going > to call me later. Maybe I can talk to him then. > > Thanks > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 > hi everyone, hope your weekend was good. I just got a call from my > neurologist office and they said the doctor said my muscle biopsy was > pretty much normal and they ruled out mito. Well I am actually upset > by this, I thought for sure the " mild non specific changes " on the > report meant something. I only had my biopsy 2 weeks ago, can they > rule out mito that fast. Can they rule out mito that fast? Depends on what tests were done. The histopathology, electron microscopy and actual biochemical assays to measure the activity of the mito enzymes can be done in this time, but most labs take weeks to months because they have a backlog. I would suggest that you get a copy of the report and ask your doctor to explain exactly what tests were performed. Below I am pasting a summary of a research study on typical muscle biopsy yield in mito patients. This is technical information, but does list the kinds of findings in a muscle biopsy that indicate mito. If you compare this list with your report, it will give you some idea of how thorough the testing was. Hope this helps. I know the waiting in hard! I waited 19 years for the first mito diagnosis and an additional 15 years for the second mito diagnosis. At this point I've had active disease for 40 years. Take care, Barbara Am J Clin Pathol. 2001 Sep;116(3):326-30. Diagnostic yield muscle biopsy in patients with clinical evidence of mitochondrial cytopathy. Rollins S, Prayson RA, McMahon JT, Cohen BH. Ohio State University College of Medicine and Public Health, Cleveland, USA. We retrospectively reviewed 118 muscle biopsy specimens from 113 patients with clinical and/or biochemical evidence of mitochondrial cytopathy. Light microscopic evaluation revealed histologic abnormalities in 65 specimens. The most common histologic findings included angular atrophic esterase-positive muscle fibers, type II muscle atrophy, regenerating muscle fibers, and scattered cytochrome- oxidase deficient fibers. Ragged red fibers were noted in 3 specimens on a Gomori trichrome stain. Electron microscopic evaluation was performed in 113 muscle specimens, and in 34, no abnormalities were identified. Increased numbers of mitochondria, particularly in the subsarcolemmal region, were identified in 54 specimens. Increased mitochondrial size was seen in 8 specimens and paracrystalline mitochondrial inclusions in 3. Other ultrastructural findings included focally increased glycogen deposition, focal Z- band streaming, and focally increased lipid accumulation. For 39 cases, concomitant skin biopsy specimens were available; abnormalities were identified by electron microscopy in 12. The majority of biopsy specimens demonstrated some light or electron microscopic abnormality. Specific histologic findings suggestive of mitochondrial abnormalities (partial cytochrome oxidase deficiency, ragged red fibers) were noted in a minority of cases. Ultrastructural evidence of mitochondrial abnormalities was noted in the majority of cases. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 I'll say, don't get discouraged, but I know hard that is. It took me 15 years of frustration and anger and a self diagnosis before I had any answers. When I didn't get what I thought was appropriate, I looked some more. Once you have the reports, we might be able to help a bit more. Mito cannot be entirely ruled out to my knowledge. Even with a fresh biopsy, they may take a piece that isn't affected. All the pieces, of which the biopsy and blood tests are only a part, have to be put together. Please be sure to ask what makes him think that you don't have mito and then ask all the questions you have. That is what he is getting paid for. Hugs, laurie > > Reply-To: > Date: Mon, 30 Aug 2004 14:59:29 -0000 > To: > Subject: Re; Muscle biopsy > > hi everyone, hope your weekend was good. I just got a call from my > neurologist office and they said the doctor said my muscle biopsy was > pretty much normal and they ruled out mito. Well I am actually upset > by this, I thought for sure the " mild non specific changes " on the > report meant something. I only had my biopsy 2 weeks ago, can they > rule out mito that fast. Should I go to the Ohio hospital I heard so > much about. How can they explain the purple toes, weakness the > breathing problem, and also the aspiration of liquids that I have and > the balance issues and a whole bunch of stuff I have. > > I am just so frustrated right now, I called my husband up crying and > he said no way they couldn't of tested everything already. What > should I do now. This is been going on for 1 1/2 years now and I am > just getting so tired of this, I want answers. Anyone have any > advice. Thanks everyone for allowing me to vent, my neuro is going > to call me later. Maybe I can talk to him then. > > Thanks > > > > > Medical advice, information, opinions, data and statements contained herein > are not necessarily those of the list moderators. The author of this e mail is > entirely responsible for its content. List members are reminded of their > responsibility to evaluate the content of the postings and consult with their > physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is > automatically moderated or removed depending on the severity of the attack. > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 --- My heart goes out to you. You have received a lot of good advice. I beleive that mito can not be ruled out by a muscle biopsy. So many factors that can go wrong. I just had my and will be getting the results, just like you, two weeks after the biopsy. I am so nervous. A PA performed the biopsy. The muscle that was taken was one of my stongest muscles. I am very anxious thta I will receive the same answer as you. Don't give up. Mito is still in it's infancy. It seems like there are very few Drs who really know much about this. They are all just learning. Hang in there! I know it must be hard. Big hugs, dawn a In , Laureta Fitzgerald wrote: > > > I'll say, don't get discouraged, but I know hard that is. It took me 15 > years of frustration and anger and a self diagnosis before I had any > answers. When I didn't get what I thought was appropriate, I looked some > more. Once you have the reports, we might be able to help a bit more. Mito > cannot be entirely ruled out to my knowledge. Even with a fresh biopsy, they > may take a piece that isn't affected. All the pieces, of which the biopsy > and blood tests are only a part, have to be put together. Please be sure to > ask what makes him think that you don't have mito and then ask all the > questions you have. That is what he is getting paid for. > > Hugs, > laurie > > > From: " " > > Reply-To: > > Date: Mon, 30 Aug 2004 14:59:29 -0000 > > To: > > Subject: Re; Muscle biopsy > > > > hi everyone, hope your weekend was good. I just got a call from my > > neurologist office and they said the doctor said my muscle biopsy was > > pretty much normal and they ruled out mito. Well I am actually upset > > by this, I thought for sure the " mild non specific changes " on the > > report meant something. I only had my biopsy 2 weeks ago, can they > > rule out mito that fast. Should I go to the Ohio hospital I heard so > > much about. How can they explain the purple toes, weakness the > > breathing problem, and also the aspiration of liquids that I have and > > the balance issues and a whole bunch of stuff I have. > > > > I am just so frustrated right now, I called my husband up crying and > > he said no way they couldn't of tested everything already. What > > should I do now. This is been going on for 1 1/2 years now and I am > > just getting so tired of this, I want answers. Anyone have any > > advice. Thanks everyone for allowing me to vent, my neuro is going > > to call me later. Maybe I can talk to him then. > > > > Thanks > > > > > > > > > > Medical advice, information, opinions, data and statements contained herein > > are not necessarily those of the list moderators. The author of this e mail is > > entirely responsible for its content. List members are reminded of their > > responsibility to evaluate the content of the postings and consult with their > > physicians regarding changes in their own treatment. > > > > Personal attacks are not permitted on the list and anyone who sends one is > > automatically moderated or removed depending on the severity of the attack. > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 > , Can they see if there is enough of a sample to send to Cleveland? I know it won't be fresh but they have more testing to do. They say that they have to do EM (electron microscopy?). 's muscle and skin were negative but it showed up in her liver. Don't give up hope. Push for more answers. Tell them you need answers!!! Good luck. Dawn Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 The testing is not done at Cleveland Clinic. Dr. Hoppel is at the VA hospital and another hospital and does the testing. Frozen muscle is sent to Atlanta to Dr. Shoffner if DNA testing is done. laurie > > Reply-To: > Date: Tue, 31 Aug 2004 01:41:58 -0000 > To: > Subject: Re: Re; Muscle biopsy > >> , > > Can they see if there is enough of a sample to send to Cleveland? > I know it won't be fresh but they have more testing to do. They say > that they have to do EM (electron microscopy?). 's muscle and > skin were negative but it showed up in her liver. Don't give up > hope. Push for more answers. Tell them you need answers!!! > Good luck. > Dawn > > > > Medical advice, information, opinions, data and statements contained herein > are not necessarily those of the list moderators. The author of this e mail is > entirely responsible for its content. List members are reminded of their > responsibility to evaluate the content of the postings and consult with their > physicians regarding changes in their own treatment. > > Personal attacks are not permitted on the list and anyone who sends one is > automatically moderated or removed depending on the severity of the attack. > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 30, 2004 Report Share Posted August 30, 2004 Thanks, I will print this out and compare it to my report when I get it C > > hi everyone, hope your weekend was good. I just got a call from my > > neurologist office and they said the doctor said my muscle biopsy > was > > pretty much normal and they ruled out mito. Well I am actually > upset > > by this, I thought for sure the " mild non specific changes " on the > > report meant something. I only had my biopsy 2 weeks ago, can they > > rule out mito that fast. > > Can they rule out mito that fast? Depends on what tests were done. > The histopathology, electron microscopy and actual biochemical > assays to measure the activity of the mito enzymes can be done in > this time, but most labs take weeks to months because they have a > backlog. I would suggest that you get a copy of the report and ask > your doctor to explain exactly what tests were performed. > > Below I am pasting a summary of a research study on typical muscle > biopsy yield in mito patients. This is technical information, but > does list the kinds of findings in a muscle biopsy that indicate > mito. If you compare this list with your report, it will give you > some idea of how thorough the testing was. > > Hope this helps. I know the waiting in hard! I waited 19 years for > the first mito diagnosis and an additional 15 years for the second > mito diagnosis. At this point I've had active disease for 40 years. > > Take care, > Barbara > > > > Am J Clin Pathol. 2001 Sep;116(3):326-30. > Diagnostic yield muscle biopsy in patients with clinical evidence of > mitochondrial cytopathy. > > Rollins S, Prayson RA, McMahon JT, Cohen BH. > Ohio State University College of Medicine and Public Health, > Cleveland, USA. > > We retrospectively reviewed 118 muscle biopsy specimens from 113 > patients with clinical and/or biochemical evidence of mitochondrial > cytopathy. Light microscopic evaluation revealed histologic > abnormalities in 65 specimens. The most common histologic findings > included angular atrophic esterase-positive muscle fibers, type II > muscle atrophy, regenerating muscle fibers, and scattered cytochrome- > oxidase deficient fibers. Ragged red fibers were noted in 3 > specimens on a Gomori trichrome stain. Electron microscopic > evaluation was performed in 113 muscle specimens, and in 34, no > abnormalities were identified. Increased numbers of mitochondria, > particularly in the subsarcolemmal region, were identified in 54 > specimens. Increased mitochondrial size was seen in 8 specimens and > paracrystalline mitochondrial inclusions in 3. Other ultrastructural > findings included focally increased glycogen deposition, focal Z- > band streaming, and focally increased lipid accumulation. For 39 > cases, concomitant skin biopsy specimens were available; > abnormalities were identified by electron microscopy in 12. The > majority of biopsy specimens demonstrated some light or electron > microscopic abnormality. Specific histologic findings suggestive of > mitochondrial abnormalities (partial cytochrome oxidase deficiency, > ragged red fibers) were noted in a minority of cases. > Ultrastructural evidence of mitochondrial abnormalities was noted in > the majority of cases. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2004 Report Share Posted September 1, 2004 I remember Rainbow Children's being in Cleveland. Alice I think Rainbow Babies is where Shoffner is. Okerlund wrote: >The part of my muscle biopsy that was sent out form U of M was sent to Dr Hoppel in Clevland and rainbow babies children hospital. susan > >Laureta Fitzgerald lfitzger@...lfitzger@...>> wrote:The testing is not done at Cleveland Clinic. Dr. Hoppel is at the VA >hospital and another hospital and does the testing. Frozen muscle is sent to >Atlanta to Dr. Shoffner if DNA testing is done. > >laurie > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2004 Report Share Posted September 1, 2004 I remember Rainbow Children's being in Cleveland. Alice I think Rainbow Babies is where Shoffner is. Okerlund wrote: >The part of my muscle biopsy that was sent out form U of M was sent to Dr Hoppel in Clevland and rainbow babies children hospital. susan > >Laureta Fitzgerald lfitzger@...lfitzger@...>> wrote:The testing is not done at Cleveland Clinic. Dr. Hoppel is at the VA >hospital and another hospital and does the testing. Frozen muscle is sent to >Atlanta to Dr. Shoffner if DNA testing is done. > >laurie > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2004 Report Share Posted September 1, 2004 Alice, You are right. Horizon Molecular Medicine, in Atlanta, is where Shoffner is. A ADAMS wrote: >I remember Rainbow Children's being in Cleveland. > >Alice > > > > > I think Rainbow Babies is where Shoffner is. > > > > Okerlund wrote: > > >The part of my muscle biopsy that was sent out form U of M was sent to Dr Hoppel in Clevland and rainbow babies children hospital. susan > > > >Laureta Fitzgerald lfitzger@...lfitzger@...>> wrote:The testing is not done at Cleveland Clinic. Dr. Hoppel is at the VA > >hospital and another hospital and does the testing. Frozen muscle is sent to > >Atlanta to Dr. Shoffner if DNA testing is done. > > > >laurie > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2004 Report Share Posted September 1, 2004 Alice, You are right. Horizon Molecular Medicine, in Atlanta, is where Shoffner is. A ADAMS wrote: >I remember Rainbow Children's being in Cleveland. > >Alice > > > > > I think Rainbow Babies is where Shoffner is. > > > > Okerlund wrote: > > >The part of my muscle biopsy that was sent out form U of M was sent to Dr Hoppel in Clevland and rainbow babies children hospital. susan > > > >Laureta Fitzgerald lfitzger@...lfitzger@...>> wrote:The testing is not done at Cleveland Clinic. Dr. Hoppel is at the VA > >hospital and another hospital and does the testing. Frozen muscle is sent to > >Atlanta to Dr. Shoffner if DNA testing is done. > > > >laurie > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 1, 2004 Report Share Posted September 1, 2004 Alice, You are right. Horizon Molecular Medicine, in Atlanta, is where Shoffner is. A ADAMS wrote: >I remember Rainbow Children's being in Cleveland. > >Alice > > > > > I think Rainbow Babies is where Shoffner is. > > > > Okerlund wrote: > > >The part of my muscle biopsy that was sent out form U of M was sent to Dr Hoppel in Clevland and rainbow babies children hospital. susan > > > >Laureta Fitzgerald lfitzger@...lfitzger@...>> wrote:The testing is not done at Cleveland Clinic. Dr. Hoppel is at the VA > >hospital and another hospital and does the testing. Frozen muscle is sent to > >Atlanta to Dr. Shoffner if DNA testing is done. > > > >laurie > > > > > > > Quote Link to comment Share on other sites More sharing options...
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