Guest guest Posted January 5, 2011 Report Share Posted January 5, 2011 Thank you very much for your information , .It is really interesting . We are almost sure our daughter has mitochondrial disease , but many autistic children have it too . We dont know wich kind of diesease she has .We have no diagnostic . We had made lots of test and no one had given us enough information to have we do not have enough information to be a certainty.The first suspect had in the first blood test was done to the girl. I had a fatty acid profile very low, with 13 months of age. By that time already had a diagnosis of pervasive developmental disorder within the autistic spectrum.From there we started with genetic studies ruling out multiple syndromes (Rett, Prader Willi, Angelman, X fragile , etc, etc). Rule out also the major metabolic disorders (deficiency of creatine in the brain, GLUT1, deficit, deficit of T1. ..), and continue to explore ....In every test we do something goes out of range, but there is nothing that matches exactly one phenotype or disease.Marina has been in treatment with Coenzyme Q10, creatine monohydrate, L-carnitine, fatty acids, antioxidants, etc, since he was 18 months approx. and in that time has progressed slowly. So far we have had no regression, nor have we detected any significant deterioration in any body organ.The next step gave us for the neurologist is to do a muscle biopsy . But it is a test that if I can avoid, I will.So yes , I have interest in knowing if there in USA any more specific type of screening that can help find the key to the failure of my daughter or rule it .Meanwhile we will continue looking for the best DAN doctor could guide us. So far it has worked for her !Others meds didnt anything to treat her . Any one can recomend me any doctor with experience in treat mito-children and DAN protocol ? Thank you for your help , again . Isabel De: Aronson Para: mb12 valtrex Enviado: mié,5 enero, 2011 16:54Asunto: Re: Carnitine? GI issues? Low muscle tone? Just wondering if any of you had your children screened for mitochondrial disease/dysfunction.. lots of links being made to autism. Symptoms are almost identical (see list below). Here's more information: Mitoland: A Handbook for Patients and Parents by Sumit Parikh, MD and Bruce Cohen, MD http://www.mitosoc.org/blogs/wp-content/uploads/docs/mitoland.pdf Mitochondrial Medcine Society web site: http://mitosoc.org/blogs/about-us/ This is a 2008 interview with Dr. Bruce Cohen that I'm reposting for those who may not have seen it. Dr. Cohen, who is a mitochondrial expert from the Cleveland Clinic, has good information to share on the mito - autism link... http://www.mefeedia.com/news/11584230 Treatment for Mito: Mitomix - Note this gives the adult dosage not kids!! See ingredients: http://www.pinepharmacy.com/store/index.cfm?fuseaction=product.disp... What are the Symptoms of Mitochondrial Disease? The severity of mitochondrial disease symptoms is different from person to person. The most common symptoms are: Poor Growth Loss of muscle coordination, muscle weakness Neurological problems, seizures Autism, autistic spectrum, autistic-like features Visual and/or hearing problems Developmental delays, learning disabilities Heart, liver or kidney disease Gastrointestinal disorders, severe constipation Diabetes Increased risk of infection Thyroid and/or adrenal dysfunction Autonomic dysfunction Neuropsychological changes characterized by confusion, disorientation and memory loss. From this web site: http://www.pinepharmacy.com/mitochondrial.cfm http://www.mefeedia.com/news/11584230 Subject: Re: Carnitine?To: mb12 valtrex Date: Wednesday, January 5, 2011, 9:08 AM Dear ; GH shots are growth hormone. My daughter is diagnosed with a hormone deficiency, levels of IGF1, GH and IGBP3 were very low. She l had grown only a few cm over the past two years, so her endocrine did a study and saw tha she was deficient in hormone.Since she is receiving GH their hypoglycemia are controlled, has grown several inches and his muscle tone has improved.On the issue of MB12.Marina has always been a girl very, very irritable. Very very upset and uncontrolled movement. In part we're seeing that it was due to intestinal disorders, which caused much discomfort. But since a few weeks ago we started with the injections, the girl is much more connected. happier and sociable. But ready to play (in her way ...) and more affectionate. have more interaction with us. Although his pronunciation is not good (Marine has ataxia in all movent, and has apraxia), is seen with more intention of trying new sounds.We are very pleased with these latest developments .... Mounths ago we tried MB12 shots too , but we left it because of too much hyper .But now , she is OK .No hyper ... a new surprise !! Every child is different and the same child is diferent if you can improve him . I would like to help more , but I'm not aware of biomedicine as many of the participants of this forum.I'm really impressed by everything I'm learning and all the help I'm getting ... and I would like to helptoo but I have fear of not knowing it right. And the language is a problem too . Here I am to answer all you ask me , . We keep on contact ... Kisses Isabel De: melissa bosler Para: mb12 valtrex Enviado: mié,5 enero, 2011 14:26Asunto: RE: Carnitine? Thanks Isabel! So, what kind of improvements did you see with the B12 shots? And what are GH shots? I'm still learning! Best of luck to you. I'm hoping the specialist we will be seeing next month will be able to give us some answers. - Kirk- To: mb12 valtrex From: isagargo@...Date: Tue, 4 Jan 2011 22:23:28 +0000Subject: Re: Carnitine? Oh , my God!I´m from Spain .I have just wake up and just open my email box ...when I had readed your post I almost fall down !!! My daughter has the same symptoms and the same test results as yours .. My child is now 4 1/2 years old .She started walking few months ago and now she is starting speaking ( she use arround 30 words properly ) .Her muscle tone has impove a lot since she is with GH shots ( because of her thieve failure ) .We started two weeks ago with MB12 shot , too , and we are seeing good results also . She is GFCF , low oxalates diet and DAN treatment since she was 18 mounths , and this last summer we started a treatment with dr Krigsman and her bowel issues had improve too . In my country we had seen EVERY neurologist and no one could tell us anything more than "wait and we will see" ... and it is not enougn for me . I have fight against my daughter symptoms and we are giving treatment for every defficiency and issue with our DAN doctor and our metabolist in the hospital . And I am always looking for solutions :I hope one day I could find the diagnostic , but I know it is very difficult . I am sorry if you couldn´t understand my words ... my english is very poor ...this is other problem that I have to improve ... For me is a great problem , I cant write all the things I would like . I am here for everything you could need from me .I am in the same situation , but in a small country ... Kisses Isabel De: mnkproperties Para: mb12 valtrex Enviado: vie,31 diciembre, 2010 02:49Asunto: Carnitine? Hi,Here I am completely confused again. One of my twins who has low tone, GCS sensitivities, leaky gut (I think), had blood work done a while back. I got a call a few days ago from the children's hospital that some of her blood work came back 'abnormal'. I know one of the tests she mentioned was carnitine. Now they are sending her to a metabolic specialist. Can anyone tell me what an abnormal carnitine test could mean? A little background - had mild pica as a one-two year old (ate dirt, rocks, moss). Has gluten, casein and soy sensitivities. Supposedly has inflammation, malabsorbtion, leaky gut. Has a lot of hair on back and legs (I keep being told that this is nothing but there has to be something to it - my husband and I are not hairy people). She also lost quite a bit of hair around the same time that she had the pica (you could see her scalp). The only other things that have been brought to my attention are that she is extremely low tone, has unusually high B12 levels, has a larger than normal head size, and at times has an odd breath smell (we have ruled out diabetes and hypoglycemia). Sorry for the long e-mail. We have been to specialist after specialist and now we have to go to this metabolic specialist (who we already saw and who totally blew us off the first time). I just wanted to see if anyone here could shed some light on what might be going on because the doctors can't seem to get on the same page and piece together this puzzle. Thanks for any advice or info. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 5, 2011 Report Share Posted January 5, 2011 Hi Again Isabel, You may want to contact the United Mitochondrial Disease Foundation or MitoAction to get a referral. UMDF: http://www.umdf.org/site/c.otJVJ7MMIqE/b.5472191/k.BDB0/Home.htm Here some more information that may be helpful: Mitochondrial Disease: A Practical Approach for Primary Care Physicians http://pediatrics.aappublications.org/cgi/content/full/120/6/1326 Also, here's a letter signed by over 50 mito specialists to President Obama saying mitochondrial dysfunction is at the core of many common diseases. http://www.solacenutrition.com/reading-room/mitochondrial-disease/mitochondrial-research-letter.html hth, Subject: Re: Carnitine?To: mb12 valtrex Date: Wednesday, January 5, 2011, 9:08 AM Dear ; GH shots are growth hormone. My daughter is diagnosed with a hormone deficiency, levels of IGF1, GH and IGBP3 were very low. She l had grown only a few cm over the past two years, so her endocrine did a study and saw tha she was deficient in hormone.Since she is receiving GH their hypoglycemia are controlled, has grown several inches and his muscle tone has improved.On the issue of MB12.Marina has always been a girl very, very irritable. Very very upset and uncontrolled movement. In part we're seeing that it was due to intestinal disorders, which caused much discomfort. But since a few weeks ago we started with the injections, the girl is much more connected. happier and sociable. But ready to play (in her way ...) and more affectionate. have more interaction with us. Although his pronunciation is not good (Marine has ataxia in all movent, and has apraxia), is seen with more intention of trying new sounds.We are very pleased with these latest developments .... Mounths ago we tried MB12 shots too , but we left it because of too much hyper .But now , she is OK .No hyper ... a new surprise !! Every child is different and the same child is diferent if you can improve him . I would like to help more , but I'm not aware of biomedicine as many of the participants of this forum.I'm really impressed by everything I'm learning and all the help I'm getting ... and I would like to helptoo but I have fear of not knowing it right. And the language is a problem too . Here I am to answer all you ask me , . We keep on contact ... Kisses Isabel De: melissa bosler Para: mb12 valtrex Enviado: mié,5 enero, 2011 14:26Asunto: RE: Carnitine? Thanks Isabel! So, what kind of improvements did you see with the B12 shots? And what are GH shots? I'm still learning! Best of luck to you. I'm hoping the specialist we will be seeing next month will be able to give us some answers. - Kirk- To: mb12 valtrex From: isagargo@...Date: Tue, 4 Jan 2011 22:23:28 +0000Subject: Re: Carnitine? Oh , my God!I´m from Spain .I have just wake up and just open my email box ...when I had readed your post I almost fall down !!! My daughter has the same symptoms and the same test results as yours .. My child is now 4 1/2 years old .She started walking few months ago and now she is starting speaking ( she use arround 30 words properly ) .Her muscle tone has impove a lot since she is with GH shots ( because of her thieve failure ) .We started two weeks ago with MB12 shot , too , and we are seeing good results also . She is GFCF , low oxalates diet and DAN treatment since she was 18 mounths , and this last summer we started a treatment with dr Krigsman and her bowel issues had improve too . In my country we had seen EVERY neurologist and no one could tell us anything more than "wait and we will see" ... and it is not enougn for me . I have fight against my daughter symptoms and we are giving treatment for every defficiency and issue with our DAN doctor and our metabolist in the hospital . And I am always looking for solutions :I hope one day I could find the diagnostic , but I know it is very difficult . I am sorry if you couldn´t understand my words ... my english is very poor ...this is other problem that I have to improve ... For me is a great problem , I cant write all the things I would like . I am here for everything you could need from me .I am in the same situation , but in a small country ... Kisses Isabel De: mnkproperties Para: mb12 valtrex Enviado: vie,31 diciembre, 2010 02:49Asunto: Carnitine? Hi,Here I am completely confused again. One of my twins who has low tone, GCS sensitivities, leaky gut (I think), had blood work done a while back. I got a call a few days ago from the children's hospital that some of her blood work came back 'abnormal'. I know one of the tests she mentioned was carnitine. Now they are sending her to a metabolic specialist. Can anyone tell me what an abnormal carnitine test could mean? A little background - had mild pica as a one-two year old (ate dirt, rocks, moss). Has gluten, casein and soy sensitivities. Supposedly has inflammation, malabsorbtion, leaky gut. Has a lot of hair on back and legs (I keep being told that this is nothing but there has to be something to it - my husband and I are not hairy people). She also lost quite a bit of hair around the same time that she had the pica (you could see her scalp). The only other things that have been brought to my attention are that she is extremely low tone, has unusually high B12 levels, has a larger than normal head size, and at times has an odd breath smell (we have ruled out diabetes and hypoglycemia). Sorry for the long e-mail. We have been to specialist after specialist and now we have to go to this metabolic specialist (who we already saw and who totally blew us off the first time). I just wanted to see if anyone here could shed some light on what might be going on because the doctors can't seem to get on the same page and piece together this puzzle. Thanks for any advice or info. Quote Link to comment Share on other sites More sharing options...
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