Guest guest Posted December 28, 2004 Report Share Posted December 28, 2004 Well after a long wait, I've finally received the results from my muscle biopsy and it appears that mitochondrial disorders have been ruled out. I know the doctors at UCLA were pretty surprised at the results as they were all but certain that I was dealing with a mitochondrial issue of some sort. The biopsy did reveal significant denervation of my muscle tissue so I'm back to where I started from in terms of having some sort of neurological disorder. What surprised my doctors was the fact that the EMG and NCV studies failed to pick up signs of significant nerve damage when the biopsy indicated some pretty major problems. I get to go in for more testing in order to pinpoint the problem but now things are pointing towards an autoimmune disease. As a result, I'll be searching out a support group focusing on this problem. I've benefited much from this site. All of the members are awesome in how they provide information and support for dealing with such a frustrating disorder. I do want to leave with some advice for all of those members that remain undiagnosed. I to know the frustration of dealing with doctors that think you are crazy and it's key to search out those good physicians that are willing to listen. No rational person would ever want such debilitating disorders and I have a tough time understanding some doctors' attitudes. I've also learned a valuable lesson in persisting with tests to identify the specific disorder that one is facing. Many neuromuscular and mitochondrial disorders have overlapping symptoms and test results. Some of the tests that we endure for the diagnostic process are not fun but I think it is worthwhile to go through with the testing even if you are suspected of having a condition that has limited treatment options. I had the option of not having the muscle biopsy and had I not gone through with it, I would probably have received a " probable mitochondrial disorder " diagnosis. The doctors were absolutely positive that this was the problem and only wanted the biopsy to determine what type of mito disorder I was dealing with. Even though my situation may not be the norm, the added testing has prevented me from starting a treatment regimen that would have offered no benefit. I encourage everyone to persist until they get a specific answer on whatever condition they might have. As medicine continues to advance, specific knowledge as to ones condition can only help as new advances in treatment options are developed. All the best to everyone as we head into the New Year. Bob Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2004 Report Share Posted December 28, 2004 Bob I am sorry you continue to have to search. I know how frustrating that can be. Thanks for your well expressed ideas. I wish you well and your continued journey. laurie > > Reply-To: > Date: Tue, 28 Dec 2004 18:58:42 -0000 > To: > Subject: Muscle Biopsy Results > > > > Well after a long wait, I've finally received the results from my > muscle biopsy and it appears that mitochondrial disorders have been > ruled out. I know the doctors at UCLA were pretty surprised at the > results as they were all but certain that I was dealing with a > mitochondrial issue of some sort. > > The biopsy did reveal significant denervation of my muscle tissue so > I'm back to where I started from in terms of having some sort of > neurological disorder. What surprised my doctors was the fact that > the EMG and NCV studies failed to pick up signs of significant nerve > damage when the biopsy indicated some pretty major problems. > > I get to go in for more testing in order to pinpoint the problem but > now things are pointing towards an autoimmune disease. As a result, > I'll be searching out a support group focusing on this problem. > > I've benefited much from this site. All of the members are > awesome > in how they provide information and support for dealing with such a > frustrating disorder. > > I do want to leave with some advice for all of those members that > remain undiagnosed. I to know the frustration of dealing with > doctors that think you are crazy and it's key to search out those > good physicians that are willing to listen. No rational person would > ever want such debilitating disorders and I have a tough time > understanding some doctors' attitudes. > > I've also learned a valuable lesson in persisting with tests to > identify the specific disorder that one is facing. Many > neuromuscular and mitochondrial disorders have overlapping symptoms > and test results. Some of the tests that we endure for the > diagnostic process are not fun but I think it is worthwhile to go > through with the testing even if you are suspected of having a > condition that has limited treatment options. > > I had the option of not having the muscle biopsy and had I not gone > through with it, I would probably have received a " probable > mitochondrial disorder " diagnosis. The doctors were absolutely > positive that this was the problem and only wanted the biopsy to > determine what type of mito disorder I was dealing with. Even though > my situation may not be the norm, the added testing has prevented me > from starting a treatment regimen that would have offered no > benefit. > > I encourage everyone to persist until they get a specific answer on > whatever condition they might have. As medicine continues to > advance, specific knowledge as to ones condition can only help as new > advances in treatment options are developed. > > All the best to everyone as we head into the New Year. > > Bob > > > > > > > > > > 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 December 28, 2004 Report Share Posted December 28, 2004 Bob I am sorry you continue to have to search. I know how frustrating that can be. Thanks for your well expressed ideas. I wish you well and your continued journey. laurie > > Reply-To: > Date: Tue, 28 Dec 2004 18:58:42 -0000 > To: > Subject: Muscle Biopsy Results > > > > Well after a long wait, I've finally received the results from my > muscle biopsy and it appears that mitochondrial disorders have been > ruled out. I know the doctors at UCLA were pretty surprised at the > results as they were all but certain that I was dealing with a > mitochondrial issue of some sort. > > The biopsy did reveal significant denervation of my muscle tissue so > I'm back to where I started from in terms of having some sort of > neurological disorder. What surprised my doctors was the fact that > the EMG and NCV studies failed to pick up signs of significant nerve > damage when the biopsy indicated some pretty major problems. > > I get to go in for more testing in order to pinpoint the problem but > now things are pointing towards an autoimmune disease. As a result, > I'll be searching out a support group focusing on this problem. > > I've benefited much from this site. All of the members are > awesome > in how they provide information and support for dealing with such a > frustrating disorder. > > I do want to leave with some advice for all of those members that > remain undiagnosed. I to know the frustration of dealing with > doctors that think you are crazy and it's key to search out those > good physicians that are willing to listen. No rational person would > ever want such debilitating disorders and I have a tough time > understanding some doctors' attitudes. > > I've also learned a valuable lesson in persisting with tests to > identify the specific disorder that one is facing. Many > neuromuscular and mitochondrial disorders have overlapping symptoms > and test results. Some of the tests that we endure for the > diagnostic process are not fun but I think it is worthwhile to go > through with the testing even if you are suspected of having a > condition that has limited treatment options. > > I had the option of not having the muscle biopsy and had I not gone > through with it, I would probably have received a " probable > mitochondrial disorder " diagnosis. The doctors were absolutely > positive that this was the problem and only wanted the biopsy to > determine what type of mito disorder I was dealing with. Even though > my situation may not be the norm, the added testing has prevented me > from starting a treatment regimen that would have offered no > benefit. > > I encourage everyone to persist until they get a specific answer on > whatever condition they might have. As medicine continues to > advance, specific knowledge as to ones condition can only help as new > advances in treatment options are developed. > > All the best to everyone as we head into the New Year. > > Bob > > > > > > > > > > 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 December 28, 2004 Report Share Posted December 28, 2004 Hey Bob, I am sorry to hear you are still searching for answers. I have a question though. Was the biopsy at UCLA a fresh biopsy or a frozen biopsy? The reason I ask is that a frozen biopsy is not very accurate. I had a frozen biopsy at Ohio State University and Columbus, OH that came back normal. My new Neuro in Michigan, Dr. Simpson, looked at my biopsy results and said that a frozen biopsy kills the muscle and mitochondria cells and you can't get an accurate reading because there are sometimes underlying issues in the respitory chain. and you can't always diagnose MITO disorders by ragged red fibers and such. Please if you can just take some time and ask the Doctors or look at your results to see if it was a frozen biopsy. javaruck bob.rucker@...> wrote: Well after a long wait, I've finally received the results from my muscle biopsy and it appears that mitochondrial disorders have been ruled out. I know the doctors at UCLA were pretty surprised at the results as they were all but certain that I was dealing with a mitochondrial issue of some sort. The biopsy did reveal significant denervation of my muscle tissue so I'm back to where I started from in terms of having some sort of neurological disorder. What surprised my doctors was the fact that the EMG and NCV studies failed to pick up signs of significant nerve damage when the biopsy indicated some pretty major problems. I get to go in for more testing in order to pinpoint the problem but now things are pointing towards an autoimmune disease. As a result, I'll be searching out a support group focusing on this problem. I've benefited much from this site. All of the members are awesome in how they provide information and support for dealing with such a frustrating disorder. I do want to leave with some advice for all of those members that remain undiagnosed. I to know the frustration of dealing with doctors that think you are crazy and it's key to search out those good physicians that are willing to listen. No rational person would ever want such debilitating disorders and I have a tough time understanding some doctors' attitudes. I've also learned a valuable lesson in persisting with tests to identify the specific disorder that one is facing. Many neuromuscular and mitochondrial disorders have overlapping symptoms and test results. Some of the tests that we endure for the diagnostic process are not fun but I think it is worthwhile to go through with the testing even if you are suspected of having a condition that has limited treatment options. I had the option of not having the muscle biopsy and had I not gone through with it, I would probably have received a " probable mitochondrial disorder " diagnosis. The doctors were absolutely positive that this was the problem and only wanted the biopsy to determine what type of mito disorder I was dealing with. Even though my situation may not be the norm, the added testing has prevented me from starting a treatment regimen that would have offered no benefit. I encourage everyone to persist until they get a specific answer on whatever condition they might have. As medicine continues to advance, specific knowledge as to ones condition can only help as new advances in treatment options are developed. All the best to everyone as we head into the New Year. Bob 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 December 28, 2004 Report Share Posted December 28, 2004 , I had asked when they took the sample and they indicated that it was fresh. I'm inclined to believe them as they went to a lot of trouble to coordinate the timing of the biopsy with the availability of the lab. They even had an in-house runner present at my biopsy to rush the sample over to the neuromuscular pathology lab that was in a different building as soon as it was removed. The biopsy results were abnormal - just not in the way that the doctors were expecting. With the denervation that was found the dx may now be pointing to CIDP (chronic inflammatory demyelinating polyneuropathy). At least this is what seems logical given the neurological symptoms that accompany the fatigue and muscle weakness. Other causes of muscle denervation include motor neuron disease but I'm going to keep thinking happy thoughts and try to keep that possibility out of the equation. From what I've been able to research, sensory symptoms are not a normal for motor neuron disease and this is a big part of what is going on with my situation. My doctor had suspected CIDP initially but was detoured when my EMG and NCV studies came back normal. My exercise physiology lab results further compounded things with the CK and ammonia elevations but even then, a number of other lab indications that usually go out of whack with mito remained normal which seemed to confuse things even more. I seem to be giving the doctors a run for the money but I'm fortunate to live so close to a facility like UCLA. The doctors have been really good in trying to figure things out so I'll keep crossing my fingers in hopes that they pinpoint the problem and start looking at some sort of treatment program to slow the progression down. Bob > > > Well after a long wait, I've finally received the results from my > muscle biopsy and it appears that mitochondrial disorders have been > ruled out. I know the doctors at UCLA were pretty surprised at the > results as they were all but certain that I was dealing with a > mitochondrial issue of some sort. > > The biopsy did reveal significant denervation of my muscle tissue so > I'm back to where I started from in terms of having some sort of > neurological disorder. What surprised my doctors was the fact that > the EMG and NCV studies failed to pick up signs of significant nerve > damage when the biopsy indicated some pretty major problems. > > I get to go in for more testing in order to pinpoint the problem but > now things are pointing towards an autoimmune disease. As a result, > I'll be searching out a support group focusing on this problem. > > I've benefited much from this site. All of the members are > awesome > in how they provide information and support for dealing with such a > frustrating disorder. > > I do want to leave with some advice for all of those members that > remain undiagnosed. I to know the frustration of dealing with > doctors that think you are crazy and it's key to search out those > good physicians that are willing to listen. No rational person would > ever want such debilitating disorders and I have a tough time > understanding some doctors' attitudes. > > I've also learned a valuable lesson in persisting with tests to > identify the specific disorder that one is facing. Many > neuromuscular and mitochondrial disorders have overlapping symptoms > and test results. Some of the tests that we endure for the > diagnostic process are not fun but I think it is worthwhile to go > through with the testing even if you are suspected of having a > condition that has limited treatment options. > > I had the option of not having the muscle biopsy and had I not gone > through with it, I would probably have received a " probable > mitochondrial disorder " diagnosis. The doctors were absolutely > positive that this was the problem and only wanted the biopsy to > determine what type of mito disorder I was dealing with. Even though > my situation may not be the norm, the added testing has prevented me > from starting a treatment regimen that would have offered no > benefit. > > I encourage everyone to persist until they get a specific answer on > whatever condition they might have. As medicine continues to > advance, specific knowledge as to ones condition can only help as new > advances in treatment options are developed. > > All the best to everyone as we head into the New Year. > > Bob > > > > > > > > > > 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 December 28, 2004 Report Share Posted December 28, 2004 Same thing in Georgia - there was a person from Dr. Shoffner's office witnessing the surgery, waiting for the muscle biopsy sample, so they could rush it over immediately for testing and prep for other labs. Take care, RH > > > > > > Well after a long wait, I've finally received the results from my > > muscle biopsy and it appears that mitochondrial disorders have been > > ruled out. I know the doctors at UCLA were pretty surprised at the > > results as they were all but certain that I was dealing with a > > mitochondrial issue of some sort. > > > > The biopsy did reveal significant denervation of my muscle tissue > so > > I'm back to where I started from in terms of having some sort of > > neurological disorder. What surprised my doctors was the fact that > > the EMG and NCV studies failed to pick up signs of significant > nerve > > damage when the biopsy indicated some pretty major problems. > > > > I get to go in for more testing in order to pinpoint the problem > but > > now things are pointing towards an autoimmune disease. As a > result, > > I'll be searching out a support group focusing on this problem. > > > > I've benefited much from this site. All of the members are > > awesome > > in how they provide information and support for dealing with such a > > frustrating disorder. > > > > I do want to leave with some advice for all of those members that > > remain undiagnosed. I to know the frustration of dealing with > > doctors that think you are crazy and it's key to search out those > > good physicians that are willing to listen. No rational person > would > > ever want such debilitating disorders and I have a tough time > > understanding some doctors' attitudes. > > > > I've also learned a valuable lesson in persisting with tests to > > identify the specific disorder that one is facing. Many > > neuromuscular and mitochondrial disorders have overlapping symptoms > > and test results. Some of the tests that we endure for the > > diagnostic process are not fun but I think it is worthwhile to go > > through with the testing even if you are suspected of having a > > condition that has limited treatment options. > > > > I had the option of not having the muscle biopsy and had I not gone > > through with it, I would probably have received a " probable > > mitochondrial disorder " diagnosis. The doctors were absolutely > > positive that this was the problem and only wanted the biopsy to > > determine what type of mito disorder I was dealing with. Even > though > > my situation may not be the norm, the added testing has prevented > me > > from starting a treatment regimen that would have offered no > > benefit. > > > > I encourage everyone to persist until they get a specific answer on > > whatever condition they might have. As medicine continues to > > advance, specific knowledge as to ones condition can only help as > new > > advances in treatment options are developed. > > > > All the best to everyone as we head into the New Year. > > > > Bob > > > > > > > > > > > > > > > > > > > > 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 December 28, 2004 Report Share Posted December 28, 2004 Same thing in Georgia - there was a person from Dr. Shoffner's office witnessing the surgery, waiting for the muscle biopsy sample, so they could rush it over immediately for testing and prep for other labs. Take care, RH > > > > > > Well after a long wait, I've finally received the results from my > > muscle biopsy and it appears that mitochondrial disorders have been > > ruled out. I know the doctors at UCLA were pretty surprised at the > > results as they were all but certain that I was dealing with a > > mitochondrial issue of some sort. > > > > The biopsy did reveal significant denervation of my muscle tissue > so > > I'm back to where I started from in terms of having some sort of > > neurological disorder. What surprised my doctors was the fact that > > the EMG and NCV studies failed to pick up signs of significant > nerve > > damage when the biopsy indicated some pretty major problems. > > > > I get to go in for more testing in order to pinpoint the problem > but > > now things are pointing towards an autoimmune disease. As a > result, > > I'll be searching out a support group focusing on this problem. > > > > I've benefited much from this site. All of the members are > > awesome > > in how they provide information and support for dealing with such a > > frustrating disorder. > > > > I do want to leave with some advice for all of those members that > > remain undiagnosed. I to know the frustration of dealing with > > doctors that think you are crazy and it's key to search out those > > good physicians that are willing to listen. No rational person > would > > ever want such debilitating disorders and I have a tough time > > understanding some doctors' attitudes. > > > > I've also learned a valuable lesson in persisting with tests to > > identify the specific disorder that one is facing. Many > > neuromuscular and mitochondrial disorders have overlapping symptoms > > and test results. Some of the tests that we endure for the > > diagnostic process are not fun but I think it is worthwhile to go > > through with the testing even if you are suspected of having a > > condition that has limited treatment options. > > > > I had the option of not having the muscle biopsy and had I not gone > > through with it, I would probably have received a " probable > > mitochondrial disorder " diagnosis. The doctors were absolutely > > positive that this was the problem and only wanted the biopsy to > > determine what type of mito disorder I was dealing with. Even > though > > my situation may not be the norm, the added testing has prevented > me > > from starting a treatment regimen that would have offered no > > benefit. > > > > I encourage everyone to persist until they get a specific answer on > > whatever condition they might have. As medicine continues to > > advance, specific knowledge as to ones condition can only help as > new > > advances in treatment options are developed. > > > > All the best to everyone as we head into the New Year. > > > > Bob > > > > > > > > > > > > > > > > > > > > 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 December 28, 2004 Report Share Posted December 28, 2004 > I'm back to where I started from in terms of having some sort of > neurological disorder. What surprised my doctors was the fact that > the EMG and NCV studies failed to pick up signs of significant > nerve damage when the biopsy indicated some pretty major problems. > > I get to go in for more testing in order to pinpoint the problem > but now things are pointing towards an autoimmune disease. As a > result, I'll be searching out a support group focusing on this > problem. We have a lot of autoimmune disease in our family, they cover a LOT of different issues. I fully believe my mitochondrial disease is due to either a genetic autoimmune condition or environmental exposure. Several of my doctors along the years thought I had myasthenia gravis, which is an autoimmune disease, and I even responded to the medication for it (but not completely). But that was disproven with a single-fiber EMG test. From your email, it doesn't sound like they did ox phos (oxidative phosphorylation) or complex activity measurement - that is VERY necessary for those of us who don't have ragged red fibers or mitochondrial abnormalities. My " generic " mitochondria appearance tests were normal, but the activities of the different complexes were way off, which is not done with all muscle biopsies. I also had a normal EMG and many normal brain MRIs. Have you had your lactate and pyruvate levels tested? My understanding from my mito doc is that having either high lactate, or a high (over 20) lactate/pyruvate ratio in the blood is a strong indicator for mitochondrial disease. Take care, RH Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2004 Report Share Posted December 28, 2004 Wow, your situation seems to mirror some of what I've gone through as well. When I started this process, several doctors were convinced it was MS only to be surprised by normal MRI's. Myasthenia Gravis was on the list for a short time until the sensory neuropathy really started to kick in. I can't say for certain what all tests were run on my muscle tissue but it appears that it was pretty exhaustive. I would be surprised if they did not do some of the tests you referenced. If my lab bill is any indication they should have tested for all kinds of stuff for almost $5K. Thank goodness for having a good health insurance plan. I do know that my lactate and pyruvate levels under both resting and full stress testing remained normal. That was one of the conundrums my doctor had when my CK and ammonia went high but everything else remained normal. My body must really be a mess since my lab results seem to be so unusual. The doctors were really amazed that the EMG testing came up clean when the muscle biopsy showed the levels of denervation that I had. It's pretty amazing to see how much doctors still do not know. Bob > > > I'm back to where I started from in terms of having some sort of > > neurological disorder. What surprised my doctors was the fact that > > the EMG and NCV studies failed to pick up signs of significant > > nerve damage when the biopsy indicated some pretty major problems. > > > > I get to go in for more testing in order to pinpoint the problem > > but now things are pointing towards an autoimmune disease. As a > > result, I'll be searching out a support group focusing on this > > problem. > > We have a lot of autoimmune disease in our family, they cover a LOT > of different issues. I fully believe my mitochondrial disease is due > to either a genetic autoimmune condition or environmental exposure. > Several of my doctors along the years thought I had myasthenia > gravis, which is an autoimmune disease, and I even responded to the > medication for it (but not completely). But that was disproven with > a single-fiber EMG test. > > From your email, it doesn't sound like they did ox phos (oxidative > phosphorylation) or complex activity measurement - that is VERY > necessary for those of us who don't have ragged red fibers or > mitochondrial abnormalities. My " generic " mitochondria appearance > tests were normal, but the activities of the different complexes were > way off, which is not done with all muscle biopsies. > > I also had a normal EMG and many normal brain MRIs. Have you had > your lactate and pyruvate levels tested? My understanding from my > mito doc is that having either high lactate, or a high (over 20) > lactate/pyruvate ratio in the blood is a strong indicator for > mitochondrial disease. > > Take care, > RH Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2004 Report Share Posted December 28, 2004 Wow, your situation seems to mirror some of what I've gone through as well. When I started this process, several doctors were convinced it was MS only to be surprised by normal MRI's. Myasthenia Gravis was on the list for a short time until the sensory neuropathy really started to kick in. I can't say for certain what all tests were run on my muscle tissue but it appears that it was pretty exhaustive. I would be surprised if they did not do some of the tests you referenced. If my lab bill is any indication they should have tested for all kinds of stuff for almost $5K. Thank goodness for having a good health insurance plan. I do know that my lactate and pyruvate levels under both resting and full stress testing remained normal. That was one of the conundrums my doctor had when my CK and ammonia went high but everything else remained normal. My body must really be a mess since my lab results seem to be so unusual. The doctors were really amazed that the EMG testing came up clean when the muscle biopsy showed the levels of denervation that I had. It's pretty amazing to see how much doctors still do not know. Bob > > > I'm back to where I started from in terms of having some sort of > > neurological disorder. What surprised my doctors was the fact that > > the EMG and NCV studies failed to pick up signs of significant > > nerve damage when the biopsy indicated some pretty major problems. > > > > I get to go in for more testing in order to pinpoint the problem > > but now things are pointing towards an autoimmune disease. As a > > result, I'll be searching out a support group focusing on this > > problem. > > We have a lot of autoimmune disease in our family, they cover a LOT > of different issues. I fully believe my mitochondrial disease is due > to either a genetic autoimmune condition or environmental exposure. > Several of my doctors along the years thought I had myasthenia > gravis, which is an autoimmune disease, and I even responded to the > medication for it (but not completely). But that was disproven with > a single-fiber EMG test. > > From your email, it doesn't sound like they did ox phos (oxidative > phosphorylation) or complex activity measurement - that is VERY > necessary for those of us who don't have ragged red fibers or > mitochondrial abnormalities. My " generic " mitochondria appearance > tests were normal, but the activities of the different complexes were > way off, which is not done with all muscle biopsies. > > I also had a normal EMG and many normal brain MRIs. Have you had > your lactate and pyruvate levels tested? My understanding from my > mito doc is that having either high lactate, or a high (over 20) > lactate/pyruvate ratio in the blood is a strong indicator for > mitochondrial disease. > > Take care, > RH Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 29, 2004 Report Share Posted December 29, 2004 Dr. Haas at UCSD has been doing fresh biopsies for quite a few years. Someone in this group (I think it was this group) also mentioned that Columbia is now doing fresh biopsies, but I don't have any independent confirmation of that. Anyone know for sure? B _____ From: Laureta Fitzgerald Sent: Wednesday, December 29, 2004 3:44 PM To: Subject: Re: Re: Muscle Biopsy Results The second place is Dr. Shoffner in Atlanta. I know there were other places deciding if they should also be doing the fresh ones, but don't know if any of them are also doing them. laurie > > Reply-To: > Date: Wed, 29 Dec 2004 11:52:43 -0800 (PST) > To: > Subject: Re: Re: Muscle Biopsy Results > > Bob, > > Dr. Simpson told me that there are only two hospitals in the US that do the > total muscle biopsy test. That test the odidative chain and Complex > defieciencies that are so hard to find. One is Cleveland Clinic and the other > one I do not remember but I know that it wasn't UCLA. > > The neuro at OSU, Dr. Sahenk, told me that they did fresh biopsies, meaning > that they test it at OSU, but on the lab report it said that the sample was > frozen before the test. Hence you might call it a fresh/FROZEN biopsy. > > > > javaruck bob.rucker@...> wrote: > > > Wow, your situation seems to mirror some of what I've gone through as > well. When I started this process, several doctors were convinced it > was MS only to be surprised by normal MRI's. Myasthenia Gravis was > on the list for a short time until the sensory neuropathy really > started to kick in. > > I can't say for certain what all tests were run on my muscle tissue > but it appears that it was pretty exhaustive. I would be surprised > if they did not do some of the tests you referenced. If my lab bill > is any indication they should have tested for all kinds of stuff for > almost $5K. Thank goodness for having a good health insurance plan. > > I do know that my lactate and pyruvate levels under both resting and > full stress testing remained normal. That was one of the conundrums > my doctor had when my CK and ammonia went high but everything else > remained normal. My body must really be a mess since my lab results > seem to be so unusual. The doctors were really amazed that the EMG > testing came up clean when the muscle biopsy showed the levels of > denervation that I had. > > It's pretty amazing to see how much doctors still do not know. > > Bob > > >> >>> I'm back to where I started from in terms of having some sort of >>> neurological disorder. What surprised my doctors was the fact > that >>> the EMG and NCV studies failed to pick up signs of significant >>> nerve damage when the biopsy indicated some pretty major problems. >>> >>> I get to go in for more testing in order to pinpoint the problem >>> but now things are pointing towards an autoimmune disease. As a >>> result, I'll be searching out a support group focusing on this >>> problem. >> >> We have a lot of autoimmune disease in our family, they cover a LOT >> of different issues. I fully believe my mitochondrial disease is > due >> to either a genetic autoimmune condition or environmental > exposure. >> Several of my doctors along the years thought I had myasthenia >> gravis, which is an autoimmune disease, and I even responded to the >> medication for it (but not completely). But that was disproven > with >> a single-fiber EMG test. >> >> From your email, it doesn't sound like they did ox phos (oxidative >> phosphorylation) or complex activity measurement - that is VERY >> necessary for those of us who don't have ragged red fibers or >> mitochondrial abnormalities. My " generic " mitochondria appearance >> tests were normal, but the activities of the different complexes > were >> way off, which is not done with all muscle biopsies. >> >> I also had a normal EMG and many normal brain MRIs. Have you had >> your lactate and pyruvate levels tested? My understanding from my >> mito doc is that having either high lactate, or a high (over 20) >> lactate/pyruvate ratio in the blood is a strong indicator for >> mitochondrial disease. >> >> Take care, >> RH > > > > > > > > > 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 December 29, 2004 Report Share Posted December 29, 2004 Hi RH, You asked about high ammonia. I am wondering if your glutamine is high in your Urine Amino Acids, and your Blood Amino Acids? Is this where your high ammonia levels are coming from? Ann-Marie Re: Muscle Biopsy Results FYI, the full cost of the fresh muscle biopsy was around $12K, the vast majority of which was testing... BTW, are you on anything for high ammonia, I'm struggling with that now... Take care, RH > > > > > I'm back to where I started from in terms of having some sort of > > > neurological disorder. What surprised my doctors was the fact > that > > > the EMG and NCV studies failed to pick up signs of significant > > > nerve damage when the biopsy indicated some pretty major problems. > > > > > > I get to go in for more testing in order to pinpoint the problem > > > but now things are pointing towards an autoimmune disease. As a > > > result, I'll be searching out a support group focusing on this > > > problem. > > > > We have a lot of autoimmune disease in our family, they cover a LOT > > of different issues. I fully believe my mitochondrial disease is > due > > to either a genetic autoimmune condition or environmental > exposure. > > Several of my doctors along the years thought I had myasthenia > > gravis, which is an autoimmune disease, and I even responded to the > > medication for it (but not completely). But that was disproven > with > > a single-fiber EMG test. > > > > From your email, it doesn't sound like they did ox phos (oxidative > > phosphorylation) or complex activity measurement - that is VERY > > necessary for those of us who don't have ragged red fibers or > > mitochondrial abnormalities. My " generic " mitochondria appearance > > tests were normal, but the activities of the different complexes > were > > way off, which is not done with all muscle biopsies. > > > > I also had a normal EMG and many normal brain MRIs. Have you had > > your lactate and pyruvate levels tested? My understanding from my > > mito doc is that having either high lactate, or a high (over 20) > > lactate/pyruvate ratio in the blood is a strong indicator for > > mitochondrial disease. > > > > Take care, > > RH 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 December 30, 2004 Report Share Posted December 30, 2004 RH, I just checked my insurance status and found that my biopsy is now at over $10K and climbing... I suppose the lab test bills will continue to trickle in for awhile longer. Rare disorders sure aren't cheap! All this testing and I'm still in diagnostic no mans land. The doctor made some noise about a spinal tap next - yuck... In regards to my high ammonia levels I'm not on any treatment. My levels only go high when under extreme physiological stress. As soon as I go back to a resting state, the ammonia goes back to normal. Same thing with my CK levels. Good luck finding a treatment to get yours under control. Bob > > > > > > > I'm back to where I started from in terms of having some sort > of > > > > neurological disorder. What surprised my doctors was the fact > > that > > > > the EMG and NCV studies failed to pick up signs of significant > > > > nerve damage when the biopsy indicated some pretty major > problems. > > > > > > > > I get to go in for more testing in order to pinpoint the > problem > > > > but now things are pointing towards an autoimmune disease. As > a > > > > result, I'll be searching out a support group focusing on this > > > > problem. > > > > > > We have a lot of autoimmune disease in our family, they cover a > LOT > > > of different issues. I fully believe my mitochondrial disease is > > due > > > to either a genetic autoimmune condition or environmental > > exposure. > > > Several of my doctors along the years thought I had myasthenia > > > gravis, which is an autoimmune disease, and I even responded to > the > > > medication for it (but not completely). But that was disproven > > with > > > a single-fiber EMG test. > > > > > > From your email, it doesn't sound like they did ox phos > (oxidative > > > phosphorylation) or complex activity measurement - that is VERY > > > necessary for those of us who don't have ragged red fibers or > > > mitochondrial abnormalities. My " generic " mitochondria > appearance > > > tests were normal, but the activities of the different complexes > > were > > > way off, which is not done with all muscle biopsies. > > > > > > I also had a normal EMG and many normal brain MRIs. Have you had > > > your lactate and pyruvate levels tested? My understanding from > my > > > mito doc is that having either high lactate, or a high (over 20) > > > lactate/pyruvate ratio in the blood is a strong indicator for > > > mitochondrial disease. > > > > > > Take care, > > > RH Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 30, 2004 Report Share Posted December 30, 2004 Bob Are you having genetic testing done on your biopsy tissue? If so, don't be surprised that the end cost is in the neighborhood of $40,000. I know, a real shocker. laurie > > Reply-To: > Date: Thu, 30 Dec 2004 15:42:22 -0000 > To: > Subject: Re: Muscle Biopsy Results > > > > RH, > > I just checked my insurance status and found that my biopsy is now at > over $10K and climbing... > > I suppose the lab test bills will continue to trickle in for awhile > longer. Rare disorders sure aren't cheap! All this testing and I'm > still in diagnostic no mans land. The doctor made some noise about a > spinal tap next - yuck... > > In regards to my high ammonia levels I'm not on any treatment. My > levels only go high when under extreme physiological stress. As soon > as I go back to a resting state, the ammonia goes back to normal. > Same thing with my CK levels. > > Good luck finding a treatment to get yours under control. > > Bob > > >>>> >>>>> I'm back to where I started from in terms of having some sort >> of >>>>> neurological disorder. What surprised my doctors was the > fact >>> that >>>>> the EMG and NCV studies failed to pick up signs of > significant >>>>> nerve damage when the biopsy indicated some pretty major >> problems. >>>>> >>>>> I get to go in for more testing in order to pinpoint the >> problem >>>>> but now things are pointing towards an autoimmune disease. > As >> a >>>>> result, I'll be searching out a support group focusing on > this >>>>> problem. >>>> >>>> We have a lot of autoimmune disease in our family, they cover a >> LOT >>>> of different issues. I fully believe my mitochondrial disease > is >>> due >>>> to either a genetic autoimmune condition or environmental >>> exposure. >>>> Several of my doctors along the years thought I had myasthenia >>>> gravis, which is an autoimmune disease, and I even responded to >> the >>>> medication for it (but not completely). But that was disproven >>> with >>>> a single-fiber EMG test. >>>> >>>> From your email, it doesn't sound like they did ox phos >> (oxidative >>>> phosphorylation) or complex activity measurement - that is VERY >>>> necessary for those of us who don't have ragged red fibers or >>>> mitochondrial abnormalities. My " generic " mitochondria >> appearance >>>> tests were normal, but the activities of the different > complexes >>> were >>>> way off, which is not done with all muscle biopsies. >>>> >>>> I also had a normal EMG and many normal brain MRIs. Have you > had >>>> your lactate and pyruvate levels tested? My understanding from >> my >>>> mito doc is that having either high lactate, or a high (over > 20) >>>> lactate/pyruvate ratio in the blood is a strong indicator for >>>> mitochondrial disease. >>>> >>>> Take care, >>>> RH > > > > > > > > > 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 December 30, 2004 Report Share Posted December 30, 2004 Laurie, I wouldn't be surprised if they did given the thoroughness of the UCLA team and the difficulties in nailing down a diagnosis. I'm very fortunate that I paid for the upgraded medical insurance option that my employer offers before all this nonsense started. It has opened many doors by avoiding HMO bureaucracy and avoiding crippling out of pocket expenses. Dumb luck on my part since I only did so because of my wife's insistence since she wanted more flexibility to choose her own doctors. I complained for 2 years about the payroll deductions that took a nice bite out of each check as no one in my family every had any major medical conditions. Needless to say, I count my lucky stars to have access to the kind of medical care I'm getting. Given my prior track record of over 40 years of good health, I never in a million years thought I'd be the one needing it. Just goes to show one can never anticipate the curve balls life can throw at you. Bob Re: Muscle Biopsy Results > > > > RH, > > I just checked my insurance status and found that my biopsy is now at > over $10K and climbing... > > I suppose the lab test bills will continue to trickle in for awhile > longer. Rare disorders sure aren't cheap! All this testing and I'm > still in diagnostic no mans land. The doctor made some noise about a > spinal tap next - yuck... > > In regards to my high ammonia levels I'm not on any treatment. My > levels only go high when under extreme physiological stress. As soon > as I go back to a resting state, the ammonia goes back to normal. > Same thing with my CK levels. > > Good luck finding a treatment to get yours under control. > > Bob > > >>>> >>>>> I'm back to where I started from in terms of having some sort >> of >>>>> neurological disorder. What surprised my doctors was the > fact >>> that >>>>> the EMG and NCV studies failed to pick up signs of > significant >>>>> nerve damage when the biopsy indicated some pretty major >> problems. >>>>> >>>>> I get to go in for more testing in order to pinpoint the >> problem >>>>> but now things are pointing towards an autoimmune disease. > As >> a >>>>> result, I'll be searching out a support group focusing on > this >>>>> problem. >>>> >>>> We have a lot of autoimmune disease in our family, they cover a >> LOT >>>> of different issues. I fully believe my mitochondrial disease > is >>> due >>>> to either a genetic autoimmune condition or environmental >>> exposure. >>>> Several of my doctors along the years thought I had myasthenia >>>> gravis, which is an autoimmune disease, and I even responded to >> the >>>> medication for it (but not completely). But that was disproven >>> with >>>> a single-fiber EMG test. >>>> >>>> From your email, it doesn't sound like they did ox phos >> (oxidative >>>> phosphorylation) or complex activity measurement - that is VERY >>>> necessary for those of us who don't have ragged red fibers or >>>> mitochondrial abnormalities. My " generic " mitochondria >> appearance >>>> tests were normal, but the activities of the different > complexes >>> were >>>> way off, which is not done with all muscle biopsies. >>>> >>>> I also had a normal EMG and many normal brain MRIs. Have you > had >>>> your lactate and pyruvate levels tested? My understanding from >> my >>>> mito doc is that having either high lactate, or a high (over > 20) >>>> lactate/pyruvate ratio in the blood is a strong indicator for >>>> mitochondrial disease. >>>> >>>> Take care, >>>> RH > > > > > > > > > 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 December 31, 2004 Report Share Posted December 31, 2004 No, I don't think so, I've had normal amino acid profiles in both blood and urine. They don't have a clue why I have high ammonia, in fact, they don't think it is related to a high protein diet, because I had it before I went on the diet as well. This is an important question I'll have for my mito doc when I see her next month. Take care, RH > > > > > > > I'm back to where I started from in terms of having some sort > of > > > > neurological disorder. What surprised my doctors was the fact > > that > > > > the EMG and NCV studies failed to pick up signs of significant > > > > nerve damage when the biopsy indicated some pretty major > problems. > > > > > > > > I get to go in for more testing in order to pinpoint the > problem > > > > but now things are pointing towards an autoimmune disease. As > a > > > > result, I'll be searching out a support group focusing on this > > > > problem. > > > > > > We have a lot of autoimmune disease in our family, they cover a > LOT > > > of different issues. I fully believe my mitochondrial disease is > > due > > > to either a genetic autoimmune condition or environmental > > exposure. > > > Several of my doctors along the years thought I had myasthenia > > > gravis, which is an autoimmune disease, and I even responded to > the > > > medication for it (but not completely). But that was disproven > > with > > > a single-fiber EMG test. > > > > > > From your email, it doesn't sound like they did ox phos > (oxidative > > > phosphorylation) or complex activity measurement - that is VERY > > > necessary for those of us who don't have ragged red fibers or > > > mitochondrial abnormalities. My " generic " mitochondria > appearance > > > tests were normal, but the activities of the different complexes > > were > > > way off, which is not done with all muscle biopsies. > > > > > > I also had a normal EMG and many normal brain MRIs. Have you had > > > your lactate and pyruvate levels tested? My understanding from > my > > > mito doc is that having either high lactate, or a high (over 20) > > > lactate/pyruvate ratio in the blood is a strong indicator for > > > mitochondrial disease. > > > > > > Take care, > > > RH > > > > > > 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 December 31, 2004 Report Share Posted December 31, 2004 The reason that my high ammonia levels are treated is that they think my episodes of confusion and short term memory loss are due to it. The number of episodes has decreased significantly, from several times per day, sometimes for whole days, down to maybe one or two short episodes per week. Blood ammonia levels are weird - some people can have almost deadly levels of ammonia with no symptoms, and others can have near normal levels with severe symptoms. Take care, RH > > > > > > > > > I'm back to where I started from in terms of having some sort > > of > > > > > neurological disorder. What surprised my doctors was the > fact > > > that > > > > > the EMG and NCV studies failed to pick up signs of > significant > > > > > nerve damage when the biopsy indicated some pretty major > > problems. > > > > > > > > > > I get to go in for more testing in order to pinpoint the > > problem > > > > > but now things are pointing towards an autoimmune disease. > As > > a > > > > > result, I'll be searching out a support group focusing on > this > > > > > problem. > > > > > > > > We have a lot of autoimmune disease in our family, they cover a > > LOT > > > > of different issues. I fully believe my mitochondrial disease > is > > > due > > > > to either a genetic autoimmune condition or environmental > > > exposure. > > > > Several of my doctors along the years thought I had myasthenia > > > > gravis, which is an autoimmune disease, and I even responded to > > the > > > > medication for it (but not completely). But that was disproven > > > with > > > > a single-fiber EMG test. > > > > > > > > From your email, it doesn't sound like they did ox phos > > (oxidative > > > > phosphorylation) or complex activity measurement - that is VERY > > > > necessary for those of us who don't have ragged red fibers or > > > > mitochondrial abnormalities. My " generic " mitochondria > > appearance > > > > tests were normal, but the activities of the different > complexes > > > were > > > > way off, which is not done with all muscle biopsies. > > > > > > > > I also had a normal EMG and many normal brain MRIs. Have you > had > > > > your lactate and pyruvate levels tested? My understanding from > > my > > > > mito doc is that having either high lactate, or a high (over > 20) > > > > lactate/pyruvate ratio in the blood is a strong indicator for > > > > mitochondrial disease. > > > > > > > > Take care, > > > > RH Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 31, 2004 Report Share Posted December 31, 2004 I'm excited to be changing from a HMO to a PPO on Jan. 1st. Hopefully it will make our lives (and our primary care doctor's life) a lot easier. Take care, RH > >>>> > >>>>> I'm back to where I started from in terms of having some sort > >> of > >>>>> neurological disorder. What surprised my doctors was the > > fact > >>> that > >>>>> the EMG and NCV studies failed to pick up signs of > > significant > >>>>> nerve damage when the biopsy indicated some pretty major > >> problems. > >>>>> > >>>>> I get to go in for more testing in order to pinpoint the > >> problem > >>>>> but now things are pointing towards an autoimmune disease. > > As > >> a > >>>>> result, I'll be searching out a support group focusing on > > this > >>>>> problem. > >>>> > >>>> We have a lot of autoimmune disease in our family, they cover a > >> LOT > >>>> of different issues. I fully believe my mitochondrial disease > > is > >>> due > >>>> to either a genetic autoimmune condition or environmental > >>> exposure. > >>>> Several of my doctors along the years thought I had myasthenia > >>>> gravis, which is an autoimmune disease, and I even responded to > >> the > >>>> medication for it (but not completely). But that was disproven > >>> with > >>>> a single-fiber EMG test. > >>>> > >>>> From your email, it doesn't sound like they did ox phos > >> (oxidative > >>>> phosphorylation) or complex activity measurement - that is VERY > >>>> necessary for those of us who don't have ragged red fibers or > >>>> mitochondrial abnormalities. My " generic " mitochondria > >> appearance > >>>> tests were normal, but the activities of the different > > complexes > >>> were > >>>> way off, which is not done with all muscle biopsies. > >>>> > >>>> I also had a normal EMG and many normal brain MRIs. Have you > > had > >>>> your lactate and pyruvate levels tested? My understanding from > >> my > >>>> mito doc is that having either high lactate, or a high (over > > 20) > >>>> lactate/pyruvate ratio in the blood is a strong indicator for > >>>> mitochondrial disease. > >>>> > >>>> Take care, > >>>> RH > > > > > > > > > > > > > > > > > > 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 December 31, 2004 Report Share Posted December 31, 2004 I was told by a lab tech from C-P back in 2002 that they *were not* doing fresh muscle biopsies, " because the doctor doesn't see a need for it " . The lady I talked to was pretty rude. Anyway, my understanding is that the whole program was shut down and restarted, I think in 2002, and they now do fresh muscle biopsies. Because I wasn't sure about C-P, I went to Georgia instead, even though NYC is local to me. Take care, RH > >> > >>> I'm back to where I started from in terms of having some sort of > >>> neurological disorder. What surprised my doctors was the fact > > that > >>> the EMG and NCV studies failed to pick up signs of significant > >>> nerve damage when the biopsy indicated some pretty major problems. > >>> > >>> I get to go in for more testing in order to pinpoint the problem > >>> but now things are pointing towards an autoimmune disease. As a > >>> result, I'll be searching out a support group focusing on this > >>> problem. > >> > >> We have a lot of autoimmune disease in our family, they cover a LOT > >> of different issues. I fully believe my mitochondrial disease is > > due > >> to either a genetic autoimmune condition or environmental > > exposure. > >> Several of my doctors along the years thought I had myasthenia > >> gravis, which is an autoimmune disease, and I even responded to the > >> medication for it (but not completely). But that was disproven > > with > >> a single-fiber EMG test. > >> > >> From your email, it doesn't sound like they did ox phos (oxidative > >> phosphorylation) or complex activity measurement - that is VERY > >> necessary for those of us who don't have ragged red fibers or > >> mitochondrial abnormalities. My " generic " mitochondria appearance > >> tests were normal, but the activities of the different complexes > > were > >> way off, which is not done with all muscle biopsies. > >> > >> I also had a normal EMG and many normal brain MRIs. Have you had > >> your lactate and pyruvate levels tested? My understanding from my > >> mito doc is that having either high lactate, or a high (over 20) > >> lactate/pyruvate ratio in the blood is a strong indicator for > >> mitochondrial disease. > >> > >> Take care, > >> RH > > > > > > > > > > > > > > > > > > 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 December 31, 2004 Report Share Posted December 31, 2004 RH I hope this improves your health care and frustrations. laurie > > Reply-To: > Date: Fri, 31 Dec 2004 16:48:19 -0000 > To: > Subject: Re: Muscle Biopsy Results > > > I'm excited to be changing from a HMO to a PPO on Jan. 1st. > Hopefully it will make our lives (and our primary care doctor's life) > a lot easier. > > Take care, > RH > > > >>>>>> >>>>>>> I'm back to where I started from in terms of having some sort >>>> of >>>>>>> neurological disorder. What surprised my doctors was the >>> fact >>>>> that >>>>>>> the EMG and NCV studies failed to pick up signs of >>> significant >>>>>>> nerve damage when the biopsy indicated some pretty major >>>> problems. >>>>>>> >>>>>>> I get to go in for more testing in order to pinpoint the >>>> problem >>>>>>> but now things are pointing towards an autoimmune disease. >>> As >>>> a >>>>>>> result, I'll be searching out a support group focusing on >>> this >>>>>>> problem. >>>>>> >>>>>> We have a lot of autoimmune disease in our family, they cover a >>>> LOT >>>>>> of different issues. I fully believe my mitochondrial disease >>> is >>>>> due >>>>>> to either a genetic autoimmune condition or environmental >>>>> exposure. >>>>>> Several of my doctors along the years thought I had myasthenia >>>>>> gravis, which is an autoimmune disease, and I even responded to >>>> the >>>>>> medication for it (but not completely). But that was disproven >>>>> with >>>>>> a single-fiber EMG test. >>>>>> >>>>>> From your email, it doesn't sound like they did ox phos >>>> (oxidative >>>>>> phosphorylation) or complex activity measurement - that is VERY >>>>>> necessary for those of us who don't have ragged red fibers or >>>>>> mitochondrial abnormalities. My " generic " mitochondria >>>> appearance >>>>>> tests were normal, but the activities of the different >>> complexes >>>>> were >>>>>> way off, which is not done with all muscle biopsies. >>>>>> >>>>>> I also had a normal EMG and many normal brain MRIs. Have you >>> had >>>>>> your lactate and pyruvate levels tested? My understanding from >>>> my >>>>>> mito doc is that having either high lactate, or a high (over >>> 20) >>>>>> lactate/pyruvate ratio in the blood is a strong indicator for >>>>>> mitochondrial disease. >>>>>> >>>>>> Take care, >>>>>> RH >>> >>> >>> >>> >>> >>> >>> >>> >>> 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...
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