Guest guest Posted August 21, 2004 Report Share Posted August 21, 2004 Hi ya'll, My name is Kim,,I joined the group for my son,Logan.Anne told me about the group,,Hi Anne:)Logan had a muscle biopsy,on July 21st,because his genetics Dr thought he might have a congenital myopathy. She felt that could be the reason for his pain,and fatigue. So,,we went to the Neurologist Thursday,to get the results,and of course,,they can't be clear cut,simple results. Basically we found out that Logan has Type 1 Fibre predominance,and type 2 fibre atrophy. He also has increased mitochondrial enzymes.So, neuro thinks he has a " strong possibility " of having a mitochondrial disease,but that the only tests that they have for it,are very expensive,and that Medicaid wouldn't pay for it:( Is that true ? He is starting him on a supplement called Carnitor,to see if it helps any. Has anyone here taken that,and what have the side effects been ? He was also concerned with his growth. He has dropped from the 90% (3yrs ago) to the 25%. So,, we get to go see endocrynology ! Yippee ! The last thing is that he scheduled an ABR hearing test,(Sept 2)to get a baselineand see if he has any hearing loss already.If he does have some hearing loss or nerve damage,,he will probably dx him with the mito. His hamstrings are tight,and he has " depressed reflexes, Right now he has a tentative dx of suspected mitochondrial disease,,and definite myopathy. These are the symptoms that Logan has.Hypotonia,balance problems (He can't stand on one foot,stand and put on his own pants,etc) muscle weakness and pain,,poor growth,,developmental delays,,I think that is all,so far. He has had one UTI and he has had a coil placed in his heart,for a patent ductus arteriosis. I will call endo Monday,and also call the neuro and ask him if we need to get Logan's vision checked again(He already has glasses,for very bad vision,,I guess I should tell the eye Dr,about these latest results,,seems like everytime we go to the eye Dr,,he has to increase his script) I think that's it,,I look forward to meeting all of ya'll Kim mom to Meaghan 15 ~~Katelyn 12 Bipolar,and OCD ~~ Logan 7 Autism, congenital myopathy,and JRA ~~ and Ethan 5 and 100 % BOY Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 23, 2004 Report Share Posted August 23, 2004 Welcome to the group, Kim! I'm sorry I don't have any great answers for you. Just wanted to welcome you and let you know you have come to the right place for support and answers to your questions. Kim - Mom to and Lindsey (2) Partial Complex I, Mason (4) healthy, Delaney (7) healthy > Hi ya'll, > My name is Kim,,I joined the group for my son,Logan.Anne told me > about the group,,Hi Anne:)Logan had a muscle biopsy,on July > 21st,because his genetics Dr thought he might > have a congenital myopathy. She felt that could be the reason for > his pain,and fatigue. > So,,we went to the Neurologist Thursday,to get the results,and > of course,,they can't be clear cut,simple results. > Basically we found out that Logan has Type 1 Fibre > predominance,and type 2 fibre atrophy. He also has increased > mitochondrial enzymes.So, neuro thinks he has a " strong > possibility " of having a mitochondrial disease,but that the only > tests that they have for it,are very expensive,and that Medicaid > wouldn't pay for it:( Is that true ? > He is starting him on a supplement called Carnitor,to see > if it helps any. Has anyone here taken that,and what have the side > effects been ? > He was also concerned with his growth. He has dropped from > the 90% (3yrs ago) to the 25%. So,, we get to go see > endocrynology ! Yippee ! > The last thing is that he scheduled an ABR hearing test,(Sept 2)to > get a baselineand see if he has any hearing loss already.If he > does have some hearing loss or nerve damage,,he will probably dx him > with the mito. > His hamstrings are tight,and he has " depressed reflexes, Right > now he has a tentative dx of suspected mitochondrial disease,,and > definite myopathy. > These are the symptoms that Logan has.Hypotonia,balance problems > (He can't stand on one foot,stand and put on his own pants,etc) > muscle weakness and pain,,poor growth,,developmental delays,,I think > that is all,so far. He has had one UTI and he has had a coil placed > in his heart,for a patent ductus arteriosis. > I will call endo Monday,and also call the neuro and ask him if we > need to get Logan's vision checked again(He already has glasses,for > very bad vision,,I guess I should tell the eye Dr,about these latest > results,,seems like everytime we go to the eye Dr,,he has to > increase his script) > I think that's it,,I look forward to meeting all of ya'll > > Kim mom to Meaghan 15 ~~Katelyn 12 Bipolar,and OCD ~~ Logan 7 > Autism, congenital myopathy,and JRA ~~ and Ethan 5 and 100 % BOY > > > > > > > > > Please contact mito-owner with any problems or questions. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 23, 2004 Report Share Posted August 23, 2004 Welcome Kim! You have found a wonderful group to be a part of. Post your questions and someone will answer. In regards to carnitor, quite a few of us have children who take it. One of the side affects is that your child may start to have a fish smell. We have been told that B-2 will eliminate the smell. I know there is something else you can take that will do the same thing. If the smell should start post to the group and someone else can tell you what other options you have. Wyatt takes the B-2 as part of his mito cocktail. As far as positives of the med goes, we have not seen any. However Wyatt has had problems since birth and we did not start the cocktail until he was 4. We have been told the earlier you start, the better for your child. Geri-Anne and Wyatt, Complex I - -- In Mito , " Kim " wrote: > Hi ya'll, > My name is Kim,,I joined the group for my son,Logan.Anne told me > about the group,,Hi Anne:)Logan had a muscle biopsy,on July > 21st,because his genetics Dr thought he might > have a congenital myopathy. She felt that could be the reason for > his pain,and fatigue. > So,,we went to the Neurologist Thursday,to get the results,and > of course,,they can't be clear cut,simple results. > Basically we found out that Logan has Type 1 Fibre > predominance,and type 2 fibre atrophy. He also has increased > mitochondrial enzymes.So, neuro thinks he has a " strong > possibility " of having a mitochondrial disease,but that the only > tests that they have for it,are very expensive,and that Medicaid > wouldn't pay for it:( Is that true ? > He is starting him on a supplement called Carnitor,to see > if it helps any. Has anyone here taken that,and what have the side > effects been ? > He was also concerned with his growth. He has dropped from > the 90% (3yrs ago) to the 25%. So,, we get to go see > endocrynology ! Yippee ! > The last thing is that he scheduled an ABR hearing test,(Sept 2) to > get a baselineand see if he has any hearing loss already.If he > does have some hearing loss or nerve damage,,he will probably dx him > with the mito. > His hamstrings are tight,and he has " depressed reflexes, Right > now he has a tentative dx of suspected mitochondrial disease,,and > definite myopathy. > These are the symptoms that Logan has.Hypotonia,balance problems > (He can't stand on one foot,stand and put on his own pants,etc) > muscle weakness and pain,,poor growth,,developmental delays,,I think > that is all,so far. He has had one UTI and he has had a coil placed > in his heart,for a patent ductus arteriosis. > I will call endo Monday,and also call the neuro and ask him if we > need to get Logan's vision checked again(He already has glasses,for > very bad vision,,I guess I should tell the eye Dr,about these latest > results,,seems like everytime we go to the eye Dr,,he has to > increase his script) > I think that's it,,I look forward to meeting all of ya'll > > Kim mom to Meaghan 15 ~~Katelyn 12 Bipolar,and OCD ~~ Logan 7 > Autism, congenital myopathy,and JRA ~~ and Ethan 5 and 100 % BOY Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 24, 2004 Report Share Posted August 24, 2004 One of the side affects is that your child may start to have a fish smell. ********************** Geri-Ann,,,Do you mean to tell me that Logan will start smelling like a fish ?! Or just his BM's ? OMG,,he is so sensetive to smells,,he will have a fit if he can smell himself ! He just about made himself sick,tonight,,when I gave him the Carnitor. He was gagging,,and choking,,and that was just from smelling it ! LOL,,He is going to have a complete fit tomorrow,,when I tell him he has to take it 2X a day ! 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 ________________________________________________________________ The best thing to hit the Internet in years - Juno SpeedBand! Surf the Web up to FIVE TIMES FASTER! Only $14.95/ month - visit www.juno.com to sign up today! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 24, 2004 Report Share Posted August 24, 2004 Welcome to the group. I really don't get too involved in lab reports, so I cannot help you there, sorry. As far as more testing goes, muscle biopsy is about the best diagnostic tool they do have. Was his muscle biopsy fresh or frozen? A fresh biopsy has been proven to be the most accurate, but there are only a few hospitals in the country who perform them. Also, sometimes after the biopsy is done, they can do other more specific tests on the remaining tissue, to try to find a specific disease. My child has had practically every test known to man, and she still is labeled Non Specific Mitochondrial Disease. She does, at least, have a concrete diagnosis of the mito. Carnitor has literally saved my daughters life. For her it stopped her liver disease from progressing, helped her be able to tolerate foods, and brought her weight up. She was born in the 90th percentile, dropped to the 30th by 6 months and now after being on Carnitor for 1 1/2 years is back to the 75th percentile. Not all people notice such huge results, but Grace is Carnitine Deficient so the supplementation really helps. I hope your son sees good results. Please feel free to ask as many questions as you need. Everyone here is so helpful. Quote Link to comment Share on other sites More sharing options...
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