Guest guest Posted March 24, 2005 Report Share Posted March 24, 2005 Kim, My son's mtDNA was also normal, but we were told it is a very narrowly focused test so that a normal just means that they didn't find one of the very few known mutations. We did the test hoping that my son would have one of those mutations (just to have a name) but knew it was fairly unlikely that we would be that lucky. They are constantly finding new mutations so hopefully through time it will become more accurate. For now I think it's just one of the ways to possibly diagnose Mito, but like most of the others it's not very exact. FWIW even after getting a normal result we went and had a second muscle biopsy still trying to find answers. J Colo Mom to Will (9/7/2001) Seizures, Migraines, Ataxia, Dysphagia, Broncho/laryngeal/tracheal malacia, Asthma/Reactive Airway, Reflux (despite Nissen Fundoplication), Delayed gastric emptying, Chronic Constipation, Hypotonic Trunk, Hypertonic Extremities, Food allergies (unknown to what), PDD. Suspected Mito/Metabolic issue Waiting for Dr S report Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 24, 2005 Report Share Posted March 24, 2005 HI Kim, has Logan had a muscle biopsy yet? Usually they use mtdna test to find specific mutations of mito. Even when it comes back normal it could just mean they did not find a mutation, that doesnt mean his muscles arent diseased. Have they checked his lactic acids, and pyruvate, and cpk levels or have they done mri's that would indicate mito? alot of times these will even come back normal. Just like with muscle biopsy, mtdna blood work can come back with false positives and false negatives. Fustrating HUH??? Does Logan have 3 or more organs involved. That right there could be enough for the doc to diagnose him with mito, so at least he can get services and help that he needs. dont give up. You know your child! Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 25, 2005 Report Share Posted March 25, 2005 HI Kim, Unfortunely it sounds like to me your son has hit the mito jackpot. It is amazing when you write down all the problems and see it in black and white, let the knew doc see it just like that. Congenital Myopathy can be mito because of all the other issues going on with your son. But then again that diagnosis Congenital Myopathy is such a huge range of many neuromuscular diseases, but it could be mito. There is a essay written by a man (true story) called Growing up as a , he has congenital myopathy, when you read it there are no other organs involved except skeletal muscles. I wouldnt worry about the negative mtdna blood test, there are so many mutations they havent even named yet. Matts one neuro, since they havent found the specific mutation yet (they are perty sure its melas with complex one), has been calling Matts mito Wild Mattman Disease, and we always joked that maybe it should be in the books that way. How is the carnitor working for your son, Matts not on that yet, I on the other hand really see improvement in myself with Carnitor, q-10 and creatine. Matts metobolic specialist has told me they have so many different combos of supplements now, and of course they are all out of pocket expenses. What can ya do. I hope the doc in Texas can help him, and that she can figure out a solid diagnoses, its the not knowing that really scares me the most. God Bless, Barb Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 25, 2005 Report Share Posted March 25, 2005 Hi, Kim. As others have mentioned, the mtDNA test results only search for some of the mito diseases. It just means that he doesn't have those ones. The mito doctor will then use the clinical info, the biopsy results and you may just get an unspecified mito diagnosis if appropriate. It is frustrating, this long drawn out process for mito diagnosis. Cindy Cruz > I was wondering what it means when the mt DNA test results come back normal ? Does it mean that the child doesn't have mito,,or what ? The nurse just called and told me that the results are normal,,and I am so confused now . What kinds of questions do I need to ask them,now ? > > > Kim mom to Meaghan 15 ~~Katelyn 12 Bipolar,and OCD ~~ Logan 7 Autism,congenital myopathy,possible mitochondrial disease,and JRA ~~ and Ethan 5 and 100 % BOY Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 25, 2005 Report Share Posted March 25, 2005 Sorry to hear that your " cocktail " is all out of pocket expense. I just wanted to point out that some insurances do cover the meds. My insurance covers all of my son's medications (thiamine, riboflavin, coQ, NADH) and Medicaid picks up the remaining 20%. It is my understanding that there are " medicinal grade " vitamins and supplements since most of those on the shelf are not regulated potency wise by the FDA. Beth > > HI Kim, Unfortunely it sounds like to me your son has hit the mito > jackpot. It is amazing when you write down all the problems and see > it in black and white, let the knew doc see it just like that. > Congenital Myopathy can be mito because of all the other issues > going on with your son. But then again that diagnosis Congenital > Myopathy is such a huge range of many neuromuscular diseases, but > it could be mito. There is a essay written by a man (true story) > called Growing up as a , he has congenital myopathy, when you > read it there are no other organs involved except skeletal muscles. > I wouldnt worry about the negative mtdna blood test, there are so > many mutations they havent even named yet. Matts one neuro, since > they havent found the specific mutation yet (they are perty sure its > melas with complex one), has been calling Matts mito Wild Mattman > Disease, and we always joked that maybe it should be in the books > that way. How is the carnitor working for your son, Matts not on > that yet, I on the other hand really see improvement in myself with > Carnitor, q-10 and creatine. Matts metobolic specialist has told me > they have so many different combos of supplements now, and of course > they are all out of pocket expenses. What can ya do. I hope the > doc in Texas can help him, and that she can figure out a solid > diagnoses, its the not knowing that really scares me the most. God > Bless, Barb Quote Link to comment Share on other sites More sharing options...
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