Guest guest Posted October 28, 2005 Report Share Posted October 28, 2005 Kent, What were your CoQ10 levels? If it makes you feel any better, most docs don't recognize acylcarnitine issues. Both of my children have the identical acylcarnitine descrepancy but it was missed by CCF's mito fellow, the two different attendings that looked over the results (one attending per child), and the GP. Whiteman found it quite curious that both kids had the same problem and both deviate from normal almost exactly the same way and proportion. BTW, the kids only have metabolic disease, NOS, diagnoses. Both kids and I have very low CoQ 10 levels. Many with mito and FODs have muscle fatigue. My son's testing has indicated that he is very poorly conditioned and my daughter's testing has indicated that she's very well conditioned (but she also has fatigue that's related to pulmonary issues). Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! FareChase: Search multiple travel sites in one click. http://farechase.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2005 Report Share Posted October 28, 2005 , CoQ10 has never been tested on me. thanks for the reply. kent > > Kent, > > What were your CoQ10 levels? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2005 Report Share Posted October 28, 2005 Kent, Kent, I'd ask that it get tested. The reason is that when we saw Whiteman, he was at first unconvinced that we have mito. My kids have good muscle mass and look very normal. My health has been pretty good. I started complaining of fatigue in my 20s. My fatigue gets much worse when I work. Otherwise, I'm pretty much normal (OK, I have exercise intollerance, intermittent headache, intermittent tremor, rosacea, bladder issues, sinus issues, autonomic issues,......). Whiteman said that my CoQ10 would almost have to be low if I have mito. He wants levels of around 5.0 for a friend's kids (and Quest, which isn't the best lab, says levels should be over 2.5). My level is 0.6. Our PCP said that my kids and I are the only ones he's ever drawn CoQ10 levels on. It can take a week or two to get the labs back because it is a send-off lab. Do you take the cocktail? It has made a huge difference for my son. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! Mail - PC Magazine Editors' Choice 2005 http://mail.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2005 Report Share Posted October 28, 2005 Hmmmm. I hate to parse words, but it depends on what you mean by " fading very fast " as to whether it would be typical of a disorder in fat metabolism. Normally, most people with FAO disorders aka FODs can exercise for 15-30 minutes without many symptoms. That's because the body depends primarily on carbohydrate metabolism during the early stages of exercise. After 20-30 minutes fat metabolism becomes very important for fuel and after an hour, almost exclusively supplies ATP. Therefore, many people with FODs can exercise for short periods of time without triggering major symptoms. It's sustained exercise over time that kicks up big problems. Most people I know with FODs do not fade in two or three minutes, say. I do, but I also have respiratory chain defects in addition to many deficiencies in beta oxidation (fat metabolism). Yes, the FOD site has been around since the beginning of the internet and has been upgraded several times. It's run by a bunch of great people and offers wonderful info and support. If you want to learn more about acylcarnitine profiles in FODs, read this article: http://www.fodsupport.org/pdf/odd-chain_triglyceride_study.pdf Scan down to Table 5 for the acylcarnitine profiles in seven different FODs. There are other researchers who are working on correlating acylcarnitine profiles in individual FODs with phenotype--in fact, I heard an exchange about this very subject recently. A particular acylcarnitine profile may correlate directly with a particular FOD or with a particular phenotype for a particular FOD. They may be useful both in diagnosis and in prognosis. Certain acylcarnitine profiles may be associated with a more severe phenotype, for example. They are also being used in prenatal screening and newborn screening. In some FODs acylcarnitine profiles can be normal or only intermittently abnormal so it is not reliably diagnostic or prognostic at this time for all FODs, but still useful in some cases. Barbara > FODs > > Hi all, > and Brarbara recently posted information that leads me to believe > that having normal strength with early exercise but fading very fast on > repititions may be a symptom of fatty acid oxidation disorders. this > describes me to a t. as the information continues to tricke in to me, > i also recently found out a blood test in April found high levels of > acylcarnitines. (this result, btw, was not even mentioned to me by a > leading neuro. i had to read it for myself when collecting test > results for referals.) does this test result indicate that i should be > tested for FODs? does this scenerio sound familiar to anybody? > thanks > kent > > > > > > > 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 October 28, 2005 Report Share Posted October 28, 2005 Barbara, i tire much faster than that( eg. one flight of stairs, combing my hair, walking 20 yards, etc). so i guess what i don't understand is why an acylcarnitine/carnitine/free carnitine test was ordered for me? What was the doc looking for? and why didn't he think elevated acylcarnitines was anything to investigate? kent > > Hmmmm. I hate to parse words, but it depends on what you mean by " fading > very fast " as to whether it would be typical of a disorder in fat > metabolism. Normally, most people with FAO disorders aka FODs can exercise > for 15-30 minutes without many symptoms. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2005 Report Share Posted October 28, 2005 > I'd ask that it get tested. The reason is that when we > saw Whiteman, he was at first unconvinced that we have > mito. My kids have good muscle mass So do I. > and look very normal. Ditto. > My health has been pretty good. Same here. > I started complaining of fatigue in my 20s. I got my first symptoms when in my 20s, double vision went to fatigue and blacking out. Then weakness and tiredness upon mild activity. > My fatigue gets much worse when I work. Otherwise, I'm pretty much > normal (OK, I have exercise intollerance, intermittent > headache, intermittent tremor, rosacea, bladder > issues, sinus issues, autonomic issues,......). Sounds similar LOL - we mitoers need to redefine normal for us. > Whiteman said that my CoQ10 would almost have to be > low if I have mito. My CoQ10 has never been low. I have a proven (by fresh muscle biopsy) complete Complex I defect (0% activity for the tested reactant). My theory is that I have a NADH problem, the second component of the Complex I reaction. Also, maybe others can confirm or deny this, if you don't have a Complex I defect but a problem with another complex, CoQ10 may be normal in those cases. > He wants levels of around 5.0 for > a friend's kids (and Quest, which isn't the best lab, > says levels should be over 2.5). My level is 0.6. Our > PCP said that my kids and I are the only ones he's > ever drawn CoQ10 levels on. It can take a week or two > to get the labs back because it is a send-off lab. All of this interesting - granted Whiteman may be an excellent genetics doc, but I find some of the things you are noting contrary to what I've heard from Shoffner in Atlanta (up there with Cohen in terms of expertise from what I've heard) and my local MDA mito doc. Maybe you'll get some new views from whichever doctor you transfer to. It may just be that adult mito cases are so much more complicated and esoteric than children, and doctors who don't see many adults rightly focus on the needs and presentations of the young 'uns. Just my $0.02... Take care, RH Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 28, 2005 Report Share Posted October 28, 2005 I cannot do light exercise for more than 5 minutes, but if I get my heart rate up within 5 minutes, I can do strenuous exercise for an hour or more, with improvement in stamina lasting from 12 to 24 hours afterwards (more stamina upon light activity as well). I'm assuming that means my fat metabolism is hunky-dory, perhaps even compensating, and my carb metabolism may be screwy? But it seems the info I find on carb metabolism indicates many specific disorders, like problems with one sugar or another. This is an interesting overview of different metabolic neuromuscular diseases: http://www.mdausa.org/publications/fa-metab-qa.html Take care, RH > > Hmmmm. I hate to parse words, but it depends on what you mean by " fading > very fast " as to whether it would be typical of a disorder in fat > metabolism. Normally, most people with FAO disorders aka FODs can exercise > for 15-30 minutes without many symptoms. That's because the body depends > primarily on carbohydrate metabolism during the early stages of exercise. > After 20-30 minutes fat metabolism becomes very important for fuel and after > an hour, almost exclusively supplies ATP. Therefore, many people with FODs > can exercise for short periods of time without triggering major symptoms. > It's sustained exercise over time that kicks up big problems. Most people I > know with FODs do not fade in two or three minutes, say. I do, but I also > have respiratory chain defects in addition to many deficiencies in beta > oxidation (fat metabolism). > > Yes, the FOD site has been around since the beginning of the internet and > has been upgraded several times. It's run by a bunch of great people and > offers wonderful info and support. > > If you want to learn more about acylcarnitine profiles in FODs, read this > article: http://www.fodsupport.org/pdf/odd- chain_triglyceride_study.pdf > > Scan down to Table 5 for the acylcarnitine profiles in seven different FODs. > There are other researchers who are working on correlating acylcarnitine > profiles in individual FODs with phenotype--in fact, I heard an exchange > about this very subject recently. A particular acylcarnitine profile may > correlate directly with a particular FOD or with a particular phenotype for > a particular FOD. They may be useful both in diagnosis and in prognosis. > Certain acylcarnitine profiles may be associated with a more severe > phenotype, for example. They are also being used in prenatal screening and > newborn screening. In some FODs acylcarnitine profiles can be normal or only > intermittently abnormal so it is not reliably diagnostic or prognostic at > this time for all FODs, but still useful in some cases. > > Barbara > > > > FODs > > > > Hi all, > > and Brarbara recently posted information that leads me to believe > > that having normal strength with early exercise but fading very fast on > > repititions may be a symptom of fatty acid oxidation disorders. this > > describes me to a t. as the information continues to tricke in to me, > > i also recently found out a blood test in April found high levels of > > acylcarnitines. (this result, btw, was not even mentioned to me by a > > leading neuro. i had to read it for myself when collecting test > > results for referals.) does this test result indicate that i should be > > tested for FODs? does this scenerio sound familiar to anybody? > > thanks > > kent > > > > > > > > > > > > > > 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 October 28, 2005 Report Share Posted October 28, 2005 RH With a complex I, logically a high fat diet would make sense, as it enters at II. Even though our biopsy results are the same for a complex I defect, I cannot handle the fats. I tried for a month and even tried MCT oil. Doctor Cohen said that he has more patients with a complex I defect that cannot handle the fats than can, even if it doesn't make sense. I think that the entire thing is so complex that no one can really predict response to anything. An additional defect, defect in a different gene, ability to break down fats or carbs or protein, gut absorbtion, etc., etc. Some in our family have had low CoQ levels and others are normal. laurie > > > My fatigue gets much worse when I work. Otherwise, I'm pretty much > > normal (OK, I have exercise intollerance, intermittent > > headache, intermittent tremor, rosacea, bladder > > issues, sinus issues, autonomic issues,......). > > Sounds similar LOL - we mitoers need to redefine normal for us. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 29, 2005 Report Share Posted October 29, 2005 --- kent thegaffer23@...> wrote: > Barbara, > i tire much faster than that( eg. one flight of > stairs, combing my > hair, walking 20 yards, etc). so i guess what i > don't understand is > why an acylcarnitine/carnitine/free carnitine test > was ordered for me? What type of doc did you see? These are good tests for a mito work-up. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! FareChase: Search multiple travel sites in one click. http://farechase.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 29, 2005 Report Share Posted October 29, 2005 --- ohgminion rakshasis@...> wrote: > All of this interesting - granted Whiteman may be an > excellent > genetics doc, but I find some of the things you are > noting contrary > to what I've heard from Shoffner in Atlanta (up > there with Cohen in > terms of expertise from what I've heard) and my > local MDA mito doc. Shoffner doesn't do follow up---only diagnosis so we're not going to be seen by him. We waited for more than a year to see Cohen. Then his practice changed and he also no longer sees most follow-up patients. We saw the fellow who spent only a few minutes with the children. We had labs drawn up at CCF but two different attendings reviewed them and they didn't notice that both children have the same defect. Nobody but Whiteman noticed this at all. There is no other doc to whom we can transfer. There is no other option. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! Mail - PC Magazine Editors' Choice 2005 http://mail.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 29, 2005 Report Share Posted October 29, 2005 Well, I'm not much good at mind reading, especially doctor's minds---which seem to be highly complicated organisms in my experience. :-) I'm guessing that he wanted to cover all the bases. Some human bodies simply don't follow the textbook rules. And secondary carnitine deficiency can occur in many different kinds of disorders. Treating even a partial carnitine deficiency can result in improvement so its always worth checking. I'm told that acylcarnitine profiles can be influenced by diet, so it's best done fasting. Maybe he blew it off for that reason, assuming a benign explanation? Or perhaps the elevation was not high enough to be " significant " ? That's one of those insider code words that doctors use. Or perhaps he didn't know how to interpret the results and chose to ignore it? Afraid this has happened to me sometimes, and not all doctors will be honest and tell you they don't know what it means. I'm partial to the ones who fess up. I also think that sometimes doctors simply do not have time to hear enough details from a history to get to certain crucial clues. Sorting out these metabolic disorders is very complex and there are subtle differences in histories that can point one way or the other. But you have to hear a LOT of the story to pick up on the more subtle clues. The other thing is that sometimes we patients don't know which clues ARE crucial. I can look back at my own doctor interactions over the years and wish I had emphasized certain things more or not left out such and such. Of course, hindsight is always 20/20 or closer anyway. Barbara > Barbara, > i tire much faster than that( eg. one flight of stairs, combing my > hair, walking 20 yards, etc). so i guess what i don't understand is > why an acylcarnitine/carnitine/free carnitine test was ordered for me? > What was the doc looking for? and why didn't he think elevated > acylcarnitines was anything to investigate? > kent > > > > > Hmmmm. I hate to parse words, but it depends on what you mean by " fading > > very fast " as to whether it would be typical of a disorder in fat > > metabolism. Normally, most people with FAO disorders aka FODs can > exercise > > for 15-30 minutes without many symptoms. > > > > > > > > > > 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 October 29, 2005 Report Share Posted October 29, 2005 Yes, great link. I've always been intrigued by your descriptions of exercise and its effects. Almost sounds little like a second wind, but maybe kicks in a little too early to be typical second wind seen in McArdle's. I don't know enough about second wind to be sure though. Haven't heard enough descriptions from patients to have a sense of the true variations, as opposed to textbook. Certainly sounds like your beta ox is doing its stuff, maybe even working overtime as you suggest. I've seen evidence that would suggest compensation from non-affected metabolic cycles in quite a few cases, including my own. Some of my non-mito enzymes in the glycolytic pathways are twice normal, for example. BTW, have you even had an ischemic forearm exercise test? In some circles this test is out of favor, but it can still be useful in sorting out glycogen disorders. Too often it is not performed correctly which makes results suspect. Barbara > I cannot do light exercise for more than 5 minutes, but if I get my > heart rate up within 5 minutes, I can do strenuous exercise for an > hour or more, with improvement in stamina lasting from 12 to 24 hours > afterwards (more stamina upon light activity as well). I'm assuming > that means my fat metabolism is hunky-dory, perhaps even > compensating, and my carb metabolism may be screwy? > > But it seems the info I find on carb metabolism indicates many > specific disorders, like problems with one sugar or another. This is > an interesting overview of different metabolic neuromuscular diseases: > > http://www.mdausa.org/publications/fa-metab-qa.html > > Take care, > RH > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 2005 Report Share Posted October 30, 2005 Thanks for sharing, I've thought about MCT oil and trying a " real " ketogenic diet, but so far an Atkins-type diet works for me. We are so individual, even in our own families who share similar symptoms or biopsy results. I know autoimmune diseases tend to " trend together " such that there may be multiple but different autoimmune diseases in families, or even several autoimmune diseases in one person. I often wonder if there is an autoimmune link in some or all of us adults with mito, since we do present differently from kids to some extent. Take care, RH > > RH > > With a complex I, logically a high fat diet would make sense, as it > enters at II. Even though our biopsy results are the same for a > complex I defect, I cannot handle the fats. I tried for a month and > even tried MCT oil. Doctor Cohen said that he has more patients with a > complex I defect that cannot handle the fats than can, even if it > doesn't make sense. > > I think that the entire thing is so complex that no one can really > predict response to anything. An additional defect, defect in a > different gene, ability to break down fats or carbs or protein, gut > absorbtion, etc., etc. > > Some in our family have had low CoQ levels and others are normal. > > laurie > > > > > > My fatigue gets much worse when I work. Otherwise, I'm pretty much > > > normal (OK, I have exercise intollerance, intermittent > > > headache, intermittent tremor, rosacea, bladder > > > issues, sinus issues, autonomic issues,......). > > > > Sounds similar LOL - we mitoers need to redefine normal for us. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 2005 Report Share Posted October 30, 2005 I am confused about the comment " Shoffner doesn't do follow-up " . He offered to see me when my biopsy results came back, without any offer of extra testing. My understanding is that he sees a lot of kids and some adults on a regular basis, unless things have changed in the past two years (actually, few months as the letter I just got in July 2005 said he would " be pleased " to see me for a follow-up visit). The waiting room at the clinic where I saw him for my pre-op visit was full of (mostly pediatric) patients. My concern is just the travel, although I may go see him again if the opportunity arises. Is anyone using Shoffner as a primary mito doc? Has anyone used him in the past and been told he doesn't see patients anymore? I wouldn't want to pursue a follow-up visit if it would be only one! It sounds like you should consider tracking Whiteman down in Portland, although it isn't clear whether he practices there still. I have a friend who used a perinatal specialist regarding the birth of her first son about 10 years ago, and she still consults with him (she is very high risk) even though he no longer practices and is out of state (she's in NH, he's in FL). Take care, RH > > All of this interesting - granted Whiteman may be an > > excellent > > genetics doc, but I find some of the things you are > > noting contrary > > to what I've heard from Shoffner in Atlanta (up > > there with Cohen in > > terms of expertise from what I've heard) and my > > local MDA mito doc. > > > Shoffner doesn't do follow up---only diagnosis so > we're not going to be seen by him. We waited for more > than a year to see Cohen. Then his practice changed > and he also no longer sees most follow-up patients. We > saw the fellow who spent only a few minutes with the > children. We had labs drawn up at CCF but two > different attendings reviewed them and they didn't > notice that both children have the same defect. Nobody > but Whiteman noticed this at all. There is no other > doc to whom we can transfer. There is no other option. > > > > > > > > > Mom to the two best kids in the world! > http://www.caringbridge.org/visit/thomasandkatie > > > > > __________________________________ > Yahoo! Mail - PC Magazine Editors' Choice 2005 > http://mail.yahoo.com > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 > > With a complex I, logically a high fat diet would make sense, as it > > enters at II. Even though our biopsy results are the same for a > > complex I defect, I cannot handle the fats. I tried for a month and > > even tried MCT oil. Doctor Cohen said that he has more patients > with a > > complex I defect that cannot handle the fats than can, even if it > > doesn't make sense. > > > > I think that the entire thing is so complex that no one can really > > predict response to anything. An additional defect, defect in a > > different gene, ability to break down fats or carbs or protein, gut > > absorbtion, etc., etc. Laurie, I missed this post the first time around. (I'm not getting all Mitoldies mail from Yahoo.) Cohen's comment is interesting--thanks for sharing. There are quite a few mito cases where secondary deficiencies in beta oxidation (fat metabolism) have been reported. I wonder if this is one possible explanation for why some complex I patients can handle fats and others not? That is, some mutations, by the very nature of their biochemical derangements, may predispose for secondary beta ox dysfunction whereas others may not? I've posted some of these abstracts in the past and probably have them in my files somewhere. I do remember that in cases where there is documented beta ox dysfunction secondary to OXPHOS that the patients have additional symptoms and biochemical findings typical of primary beta ox defects. Some of these investigators have jumped through all kinds of biochemical hoops to prove that it is indeed secondary, not two co-existing primary defects. Their reasoning is too complex for me to follow, but there probably are also cases where there are two co-existing primary defects---though this would be less common given the genetic odds. Barbara Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 Hi RH, Our oldest daughter was evaluated by Dr. Shoffner in 1998. At that time we were told the only patients that he followed long term were those living close to Atlanta. Other than that it was either a single visit for diagnosis or two visits, one for diagnosis and one to explain the report. His preference was for the families to have case management close to home. This is nice in principle, but many of us (our family included) have NO one close to home that understands the disease or is truly interested in learning. Right now, lies doesn't even have a local primacy care physician and every open practice I've called has refused. they are too busy to encompass a complex young adult. We are fortunate in having the opportunity to see Dr. Cohen at least annually. Those visits are very helpful for an overview but useless for the day to day situations that keep arising. Joanne Kocourek (mom to , lies, and ) visit us at: http://www.caringbridge.org/il/annakris Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 Thank you for your comments, I guess it is good that other doctors don't share that view (and it would be nice if it has changed, but the letter I received in July isn't 100% clear). I agree strongly that quite often there is NO doctor within hundreds of miles who can follow our cases, especially adults who can get excluded from some mito docs practices. (Whiteman is an interesting case, since HE was traveling 1,000 miles or so just to work at the Mayo clinic, as opposed to patients traveling that far) I live between Philly and NYC, and even in this area, I went to over 20 doctors (most of whom were highly recommended, not just " local " docs) to try to find out what was going on with my case, some of which said " it is all in my head " and others who said things like " you probably have a tumor too small to show up on scans that is causing symptoms " . The MDA neuro at the town clinic was the first one to correctly dx my condition as mito, after I'd seen many " world class " doctors in Philly and NYC and between. Columbia Presbyterian was a dead end for me, and several of the local medical schools and universities were as well. I've tried to get a nurse on my and my son's case from my insurance company, to facilitate coordination of care, but it has been a lot of trouble with no result yet. They just don't understand that not every neurologist is familiar with mito disease, and try to give referrals to " general neurologists " . Perhaps I will ask the town MDA clinic if they would consider following a patient who is not local, I would be interested to find out an answer. I wonder how far is considered " not local " - in NJ it is probably different than in GA. Have people found that the UMDF list of doctors (they have one, right?) is helpful, or are they mostly pediatric? I did find out that the genetics clinic at CHOP would see adults, but I ended up going to NEMC instead. And another note, my family doctor basically follows me up for general non-mito issues, but depends on my MDA doctor and myself to keep her informed of what is going on with my neuromuscular condition. If I ever got admitted to my local hospital for mito symptoms, I think she'd be among the first ones to say " our staff can't handle this, the first order of business is to get you transferred to a major medical center " (closest is about an hour away). I *NEVER* go to my family doctor for mito symptoms, my MDA doctor's office is " on call " and they are the first ones I call if I have symptoms that are getting out of hand. I almost feel that my MDA doctor is my primary doctor. I see you are in IL, have you tried Northwestern, U Chicago, and Rush? Take care, RH > > Hi RH, > > Our oldest daughter was evaluated by Dr. Shoffner in 1998. At that time we were told the only patients that he followed long term were those living close to Atlanta. Other than that it was either a single visit for diagnosis or two visits, one for diagnosis and one to explain the report. His preference was for the families to have case management close to home. This is nice in principle, but many of us (our family included) have NO one close to home that understands the disease or is truly interested in learning. Right now, lies doesn't even have a local primacy care physician and every open practice I've called has refused. they are too busy to encompass a complex young adult. We are fortunate in having the opportunity to see Dr. Cohen at least annually. Those visits are very helpful for an overview but useless for the day to day situations that keep arising. > > > > > > Joanne Kocourek (mom to , lies, and ) > visit us at: http://www.caringbridge.org/il/annakris > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 --- Joanne Kocourek servedogmom@...> wrote: we were told the only patients > that he followed long term were those living close > to Atlanta. Other than that it was either a single > visit for diagnosis or two visits, one for diagnosis > and one to explain the report. His preference was > for the families to have case management close to > home. We're in IL so not close to Shoffner. Also, it can be quite difficult to impossible to get insurance coverage to visit Shoffner. Our best bet is to wait for Whiteman. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! FareChase: Search multiple travel sites in one click. http://farechase.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 --- ohgminion rakshasis@...> wrote: > Have people found that the UMDF list of doctors > (they have one, > right?) is helpful, or are they mostly pediatric? I > did find out > that the genetics clinic at CHOP would see adults, > but I ended up > going to NEMC instead. > > I see you are in IL, have you tried Northwestern, U > Chicago, and Rush? There is a UMDF list but the main " expert " in IL, well, isn't a good mito doc. He told Joanne years ago that he'd had one (complex I, I believe) mito patient and was unlikely to ever see another again. He's the metabolic expert listed by my insurance, most of IL and even Hawaii. There are NO experts in the Chicago area. We travel four hours to Milwaukee to see subspecialists. We live close to Peoria, the largest city in downstate IL. I'd never consider going to an MDA clinic in IL. They don't understand mito at all. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Start your day with Yahoo! - Make it your home page! http://www.yahoo.com/r/hs Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 The UMDF list for the Midwest is sparse and most of those listed either admit they have an " interest in mito but NO true knowledge or expertice " . We have actually seen two of those listed and the results have been awful (because of their lack of knowledge and ignorance giving us the same old maybe psych or it can't be type statements). The only families that have had success with Ruch or Northwestern have confirmed, common genetic abnormalities, ie MELAS, MERRF, etc. I work at U of C and the situation here is worse, with many family dismissed as MSBP. The few they have diagnosed have NOT been offered any treatment as " there is NO treatment or cure. " THe local MDA Clinics didn't even understand that Mito was under their umbrella,. When I finally convinced the coordinator they decided my girls were too medically fragile and complex and they couldn't service them. Note: One of the docs on the original UMDF list accused our family and at least 5 others of MSBP even though we all have children with biopsy confirmed disease. Almost all of their medical care is based at Children's Hospital of Wisconsin. They have, by far, they most experience with mito in the region. My daughters are followed by over 8 subspecialties there. We drive from the Illinois side of the Northwestern Indiana border to get there, approximately 2 1/2 to 3 1/2 hours drive time. ohgminion rakshasis@...> wrote: Have people found that the UMDF list of doctors (they have one, right?) is helpful, or are they mostly pediatric? I did find out that the genetics clinic at CHOP would see adults, but I ended up going to NEMC instead. I see you are in IL, have you tried Northwestern, U Chicago, and Rush? Take care, RH Joanne Kocourek (mom to , lies, and ) visit us at: http://www.caringbridge.org/il/annakris Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 FYI, I went to four different MDA clinic locations (3 NJ, 1 NY) before I found the neuro at the town MDA clinic, who is very knowledgeable about mito. Not all MDA clinics are the same, by a longshot. Even the way I was treated (as a person and patient) was vastly different. I wonder if UMDF could consider listing whether mito docs are pediatric only or both adult and pediatric (or do they?). I hope there might be someone in your area who can help you, it sounds like you are frustrated by your situation. I thought I had seen people on this list from WI, maybe they have some ideas. Unfortunately it seems many of us only have an epiphany when we travel far from home to see true experts. Take care, RH > > > Have people found that the UMDF list of doctors > > (they have one, > > right?) is helpful, or are they mostly pediatric? I > > did find out > > that the genetics clinic at CHOP would see adults, > > but I ended up > > going to NEMC instead. > > > > I see you are in IL, have you tried Northwestern, U > > Chicago, and Rush? > > There is a UMDF list but the main " expert " in IL, > well, isn't a good mito doc. He told Joanne years ago > that he'd had one (complex I, I believe) mito patient > and was unlikely to ever see another again. He's the > metabolic expert listed by my insurance, most of IL > and even Hawaii. There are NO experts in the Chicago > area. We travel four hours to Milwaukee to see > subspecialists. We live close to Peoria, the largest > city in downstate IL. > > I'd never consider going to an MDA clinic in IL. They > don't understand mito at all. > > > > Mom to the two best kids in the world! > http://www.caringbridge.org/visit/thomasandkatie > > > > __________________________________ > Start your day with Yahoo! - Make it your home page! > http://www.yahoo.com/r/hs > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 --- Joanne Kocourek servedogmom@...> wrote: with many family dismissed as MSBP. The > few they have diagnosed have NOT been offered any > treatment as " there is NO treatment or cure. " THe > local MDA Clinics didn't even understand that Mito > was under their umbrella,. When I finally convinced > the coordinator they decided my girls were too > medically fragile and complex and they couldn't > service them. Note: One of the docs on the original > UMDF list accused our family and at least 5 others > of MSBP even though we all > have children with biopsy confirmed disease. > A resident accused me of MSBP and our psychiatrist wrote on notes (after a hospitalization they said was for suicidal ideation but we were scared of rages) R/O MSBP. We are not going back to that psychiatrist. This was AFTER our visit with Whitman. I asked the psych if she'd read the notes from Whiteman and she said she didn't get them. I sat right in front of her and saw her rooting around in her papers and saw the approximately ten page report in her file. Whiteman's report took up about half the papers in the file but somehow she missed it. Do you think she was concerned about finding what was going on with my son??? BTW, the mito cocktail has done more for this child's psychiatric issues than any psychiatric medicine ever did. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! FareChase: Search multiple travel sites in one click. http://farechase.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 --- ohgminion rakshasis@...> wrote: > I hope there might be someone in your area who can > help you, it > sounds like you are frustrated by your situation. I > thought I had > seen people on this list from WI, maybe they have > some ideas. There are no mito experts anywhere nearby. My son's labs are unusual even for mito. He has problems in copper metabolism, for example. But his problems are exactly the opposite of known disorders. We have been told that his condition is incompatible with life but then given no ideas or suggestions about where to go or what to do. We see subspecialists in Wisconsin. There is a good FOD person there but he isn't anyone we want to see. He has refused to recognize positive fresh muslce biopies for some patients we know. What can he do for us? We will wait for Whiteman because we have no choice. Mom to the two best kids in the world! http://www.caringbridge.org/visit/thomasandkatie __________________________________ Yahoo! Mail - PC Magazine Editors' Choice 2005 http://mail.yahoo.com Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 I hope your info might help , I've " been there " with no hope of a dx or treatment after seeing many doctors. It seems like us mito patients go through so much just to get acknowledged as a person with an illness that needs treatment. I don't know what I'd do if my local (1 hour away) mito doc moved, although perhaps that is one reason I am going to a doctor at NEMC (5 hours away). Lots of hugs to both you and , we should be spending our time fighting other battles than trying to find a good doctor. Take care, RH > Have people found that the UMDF list of doctors (they have one, > right?) is helpful, or are they mostly pediatric? I did find out > that the genetics clinic at CHOP would see adults, but I ended up > going to NEMC instead. > > I see you are in IL, have you tried Northwestern, U Chicago, and Rush? > > Take care, > RH > > > > Joanne Kocourek (mom to , lies, and ) > visit us at: http://www.caringbridge.org/il/annakris > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 2005 Report Share Posted October 31, 2005 Barbara My complex II and III are also lower than the normal range, but not 0 as is I. This was a second live biopsie done in Cleveland and first was done in Atlanta. They were about 4 years apart. One thing that was noted is that each of the labs and docs uses a different percentage for determining if it is significant. They also don't know if II and III are secondary to I or even the other way around. Dr. Hoppel seemed to think I and II were secondary to III. Who knows - just have to wait until more research discovers more info. laurie > > > > With a complex I, logically a high fat diet would make sense, as it > > > enters at II. Even though our biopsy results are the same for a > > > complex I defect, I cannot handle the fats. I tried for a month and > > > even tried MCT oil. Doctor Cohen said that he has more patients > > with a > > > complex I defect that cannot handle the fats than can, even if it > > > doesn't make sense. > > > > > > I think that the entire thing is so complex that no one can really > > > predict response to anything. An additional defect, defect in a > > > different gene, ability to break down fats or carbs or protein, gut > > > absorbtion, etc., etc. > Quote Link to comment Share on other sites More sharing options...
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