Guest guest Posted April 7, 2004 Report Share Posted April 7, 2004 I have a fatty acid oxidation problem. I would really like to hear any one else on here who has the same problem tell me their symptoms too. Is there anyone who would like to share their story? Sure would appreciate it. Smiles to you, Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 8, 2004 Report Share Posted April 8, 2004 , I have a fatty oxidation disorder too but I bet my symptoms and yours are not all the same since we call this disease mito. My labs show low creatine, very low amino acids and an abundance of carnitine in the urine. I'm deaf and mobility impaired. I have many occasions when I feel as if there are at least 1000 pounds on my shoulders driving me down. I have very low muscle tone. I have a weight problem. I have GERD and some GI probems, Diabetes and some mental fatique and confusion. I have Neuropathy, hypertension, some heart issues. I require CPAP for sleeping. Can't think of anything else right now but that should give you a pretty good start. Alice Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 8, 2004 Report Share Posted April 8, 2004 thank you Alice, Smiles to you, Re: fatty acid oxidatiion > , > > I have a fatty oxidation disorder too but I bet my symptoms and yours are not all the same since we call this disease mito. > > My labs show low creatine, very low amino acids and an abundance of carnitine in the urine. I'm deaf and mobility impaired. I have many occasions when I feel as if there are at least 1000 pounds on my shoulders driving me down. I have very low muscle tone. I have a weight problem. I have GERD and some GI probems, Diabetes and some mental fatique and confusion. I have Neuropathy, hypertension, some heart issues. I require CPAP for sleeping. > > Can't think of anything else right now but that should give you a pretty good start. > > Alice > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 8, 2004 Report Share Posted April 8, 2004 Hi , Won't try to share my story--way too long and complicated--since I have two co-existing genetic disorders, one specific to the CPT gene and a second global mito defect thought to be caused by a genetic error in mitochondrial transport via heat shock proteins. In my case, it has been very hard to sort out which defect is causing which symptoms. List for me includes myopathy, neuropathy, myoclonus, seizures, GI dysfunction, stroke-like events, hyperinsulinemia, renal tubular acidosis, kidney stones, interstitial cystitis, meningioma, j-tube. Just to add that there are a lot of different inborn errors in fat metabolism and the symptoms vary, even within the same disorder. I believe fodsupport.org has some stories on their site for a number of different fatty acid oxidation disorders and we have lot of CPT stories on spiralnotebook.org. In Mitoldies, there are least two members with primary systemic carnitine deficiency, an inborn error in fat metabolism. If you search archives, you will probably find posts about carnitine deficiency symptoms from and Nikki (or her mother ). Take care, Barbara > I have a fatty acid oxidation problem. I would really like to hear any one else on here who has the same problem tell me their symptoms too. Is there anyone who would like to share their story? Sure would appreciate it. > > Smiles to you, > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 8, 2004 Report Share Posted April 8, 2004 thank you Barbara. I do remember talking to you before as we had a common link in that we both have more than one genetic defect. I am the one that also has McArdle's myopathy. That is my only confirmed one, as I refuse another biopsy at this point. But it is presumed my other problem is the fatty acid thing. Of which I very much concur. Since Alice directed me here many years ago, I have been able to see how much I have in common with you folks. I have read some of the stories on the spiralnotebook. Excellent! I will search the archives also, Thanks again, smiles to you, Re: fatty acid oxidatiion > Hi , > > Won't try to share my story--way too long and complicated--since I > have two co-existing genetic disorders, one specific to the CPT gene > and a second global mito defect thought to be caused by a genetic > error in mitochondrial transport via heat shock proteins. In my > case, it has been very hard to sort out which defect is causing > which symptoms. List for me includes myopathy, neuropathy, > myoclonus, seizures, GI dysfunction, stroke-like events, > hyperinsulinemia, renal tubular acidosis, kidney stones, > interstitial cystitis, meningioma, j-tube. > > Just to add that there are a lot of different inborn errors in fat > metabolism and the symptoms vary, even within the same disorder. I > believe fodsupport.org has some stories on their site for a number > of different fatty acid oxidation disorders and we have lot of CPT > stories on spiralnotebook.org. In Mitoldies, there are least two > members with primary systemic carnitine deficiency, an inborn error > in fat metabolism. If you search archives, you will probably find > posts about carnitine deficiency symptoms from and Nikki (or > her mother ). > > Take care, > Barbara > > > > I have a fatty acid oxidation problem. I would really like to hear > any one else on here who has the same problem tell me their symptoms > too. Is there anyone who would like to share their story? Sure > would appreciate it. > > > > Smiles to you, > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 8, 2004 Report Share Posted April 8, 2004 Hi , There are a lot of different fatty acid oxidation disorders. I have a carnitine deficiency. Some docs believe my carnitine deficiency is primary, others think it is secondary to mito. I do have a carnitine deficiency in both the plasma and muscle. I take IV Carnitine through a central catheter that is implanted in my chest. Even on the IV Carnitine I still have very low levels of carnitine in my plasma. We do not know if I still have low levels of carnitine in the muscle while on the IV because I have not had a second muscle biopsy done. However the docs believe that those levels are most likely still low. I do have a lot of symptoms caused by the carnitine deficiency. I am on a ventilator and in a wheelchair. If you would like to know more, please feel free to email me with any questions at all! My email is nikkinetgirl@.... I have no problem answering them. Good luck with everything and I hope your search goes well. Keep Smiling, Nikki > I have a fatty acid oxidation problem. I would really like to hear any one else on here who has the same problem tell me their symptoms too. Is there anyone who would like to share their story? Sure would appreciate it. > > Smiles to you, > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2004 Report Share Posted April 9, 2004 Oh, THAT !! Hello!!! I have not been active in discussions much the last 2 years and wasn't sure if you were still around. Hope you are doing okay. I recently heard from another McArdle's patient, newly diagnosed. He has set up a muscle discussion forum at www.mdforums.org and seems like a really nice young man. He is anxious to talk to other patients, but we no longer run our patient networking program, so I was not able to help him on that score. Barbara > > > I have a fatty acid oxidation problem. I would really like to hear > > any one else on here who has the same problem tell me their symptoms > > too. Is there anyone who would like to share their story? Sure > > would appreciate it. > > > > > > Smiles to you, > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2004 Report Share Posted April 9, 2004 Hi again, nice to be remembered after all this time. I have been on and off mail too. But my thoughts are with you all. I think I know who you are talking about with the McArdle's fellow. Is his name Dane? He is on the McArdle's list. Didn't realize he had Mito too though. don't think he has mentioned it. I am doing okay. I was started on oxygen over a year ago and it really has helped me. The first thing I noticed was that it has almost stopped the severe muscle pain I had in my eyes!!! Still have double vision though. But that means I get to see twice the beauty in the world:) Did I see you on the " Today show " a couple years ago????? I came in at the end of it but thought to myself, ahhh that must be Barbara! Was I right? Smiles to you, Re: fatty acid oxidatiion > Oh, THAT !! Hello!!! I have not been active in discussions > much the last 2 years and wasn't sure if you were still around. Hope > you are doing okay. > > I recently heard from another McArdle's patient, newly diagnosed. He > has set up a muscle discussion forum at www.mdforums.org and seems > like a really nice young man. He is anxious to talk to other > patients, but we no longer run our patient networking program, so I > was not able to help him on that score. > > Barbara > > > > > > I have a fatty acid oxidation problem. I would really like to > hear > > > any one else on here who has the same problem tell me their > symptoms > > > too. Is there anyone who would like to share their story? Sure > > > would appreciate it. > > > > > > > > Smiles to you, > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 9, 2004 Report Share Posted April 9, 2004 Yes, Dane! Glad to hear he has hooked up with a group. We do hear from quite a few McArdle's people because it is so similar to CPT. Good to hear the oxygen has helped you. I have wondered at times if that might help me but haven't pursued it. Nope, not me on TV! Ha! No doubt that was the other writer named Barbara Seaman, the one who is well-known. She tracked me down a few years back because people who had seen some of my articles thought they were hers and had commented to her about them. I once had an article accepted because the editor thought I was her! Only realized that later. We both write about health issues, but with a different slant. We did consider co-writing a book on the doctor/patient relationship--we thought it would be cool to have the double name on the cover--but I can't tackle such a big project anymore. Not enough arm umph. Take care, Barbara > > > > > I have a fatty acid oxidation problem. I would really like to > > hear > > > > any one else on here who has the same problem tell me their > > symptoms > > > > too. Is there anyone who would like to share their story? Sure > > > > would appreciate it. > > > > > > > > > > Smiles to you, > > > > > > > > > > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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