Mitochondrial Disease
We finally have a diagnosis. You may wish to read below to get soem history on the search, although not a complete dx search history. No one can type that long!!! But she short of it is that Garrett has Mitochondrial DIsease, and Addie probably has it too. We are waiting to get results to specify which type, but Dr. Koenig believes it may be a mtDNA depletion syndrome.
Given several minutes I can explain that Garrett and Addie fatigue rapidly and have low muscle tone (hypotonia), but then there are Garrett's issues of global developmental delay, autistic tendencies (but not considered autistic because there is an underlying condition causing it) and constipation.
Addie has had a normal EMG at the Mayo Clinic in Rochester, MN, and she has had her basic blood work like CBC and CK come back normal. That was to either confirm or rule out Congenital Myasthenic Syndrome for both Addie and Garrett. Addie fit the clinical picture for CMS, but Garrett's delays and slow GI motility made him not so likely a CMS child. That's all for now. They physician at the Mayo Clinic wants to see Addie again in a year or so and consider a muscle biopsy. We have Garrett's muscle biopsy at Texas Children's, and there is some left to run more tests...looking into that in October with the mitochondria specialist in Houston.
July 24, 2009,our local MDA neurologist saw Garrett for his clinic appointment, and she feels he is weak, but is not as worried about his muscle issues as she is about his cognitive development. She said that to her he presents like a tall two year old. He just turned four this month. She is happy with the public school reverse inclusion special education program we will have him in th2 2009-2010 school year. His therapists will be there with him in the same building!!! He will be with 5-6 other special children and 5-6 normally developing kiddos. The main teacher is a special education teacher, and she will have 2-4 aides to help her. I asked the neurologist what to do about Garrett and physical therapy as he is just not cooperative for his private PT, and we have been asked to get some OT in the sensory area before trying private PT again. The doctor said we could relax on PT except for evaluations to check his AFOs (braces for his feet). She thinks that working with him in this stage of development from a PT perspective isn't a very good use of time. I appreciated that honesty, but it made me feel helpless at the same time. We talked about the future some. She said that around 6-7 years of age, we will be able to assess his IQ and determine where to go at that time. HURRY UP and catch up, Garrett!! It sounded to me like he needs to make lots of strides in many areas or he may just be "like he is." Wow, that was a little unnerving. And maybe I read too much into this and she was trying to be open and talk about the future, which she knows I hate being a mystery for my kids.
June 2010, after a repeat muscle biopsy performed in Houston, TX, Garrett was diagnosed with Mitochondrial Disease using a combination of very elevated blood lactate, respiratory chain Complexes II and III, atrophy of type II muscle fibers, mitochondrial that appeared to be stressed, 53% of mitochondrial DNA compared to average, but produces too many mitochondria, his clinical presentation of developmental and language delay, hypotonia, slow motility, constipation, and weakness, plus some other blood tests showing quirky organic acids. More blood was taken to test for mitochondrial DNA depletion syndromes. As of July 8, 2010, we have been told to wait a month before these tests for the most common three depletion syndromes is complete. Meanwhile, Garrett will slowly build up to taking a mitochondrial cocktail. First he will start CoQ10 three times daily, then two weeks later add Carnitor three times daily, then two weeks later add Riboflavin twice daily, and then two weeks later add Folate. This cocktail, as they call it, can cause great improvement in some people's condition. In others, visible improvement is not seen, however it is believed to slow the progression of this disease, and we are certainly all about that!!!
Now how about Addie?? Once an exact diagnosis of a specific type of Mitochondrial DIsease is pinpointed, and we were warned that science may not be quite able to do that yet, the mitochondrial specialist will use that final test to determine if Addie has the same type. She suspects she will. So we wait once more.
- June 12, 2010
I will update more as I know more!
Given several minutes I can explain that Garrett and Addie fatigue rapidly and have low muscle tone (hypotonia), but then there are Garrett's issues of global developmental delay, autistic tendencies (but not considered autistic because there is an underlying condition causing it) and constipation.
Addie has had a normal EMG at the Mayo Clinic in Rochester, MN, and she has had her basic blood work like CBC and CK come back normal. That was to either confirm or rule out Congenital Myasthenic Syndrome for both Addie and Garrett. Addie fit the clinical picture for CMS, but Garrett's delays and slow GI motility made him not so likely a CMS child. That's all for now. They physician at the Mayo Clinic wants to see Addie again in a year or so and consider a muscle biopsy. We have Garrett's muscle biopsy at Texas Children's, and there is some left to run more tests...looking into that in October with the mitochondria specialist in Houston.
July 24, 2009,our local MDA neurologist saw Garrett for his clinic appointment, and she feels he is weak, but is not as worried about his muscle issues as she is about his cognitive development. She said that to her he presents like a tall two year old. He just turned four this month. She is happy with the public school reverse inclusion special education program we will have him in th2 2009-2010 school year. His therapists will be there with him in the same building!!! He will be with 5-6 other special children and 5-6 normally developing kiddos. The main teacher is a special education teacher, and she will have 2-4 aides to help her. I asked the neurologist what to do about Garrett and physical therapy as he is just not cooperative for his private PT, and we have been asked to get some OT in the sensory area before trying private PT again. The doctor said we could relax on PT except for evaluations to check his AFOs (braces for his feet). She thinks that working with him in this stage of development from a PT perspective isn't a very good use of time. I appreciated that honesty, but it made me feel helpless at the same time. We talked about the future some. She said that around 6-7 years of age, we will be able to assess his IQ and determine where to go at that time. HURRY UP and catch up, Garrett!! It sounded to me like he needs to make lots of strides in many areas or he may just be "like he is." Wow, that was a little unnerving. And maybe I read too much into this and she was trying to be open and talk about the future, which she knows I hate being a mystery for my kids.
June 2010, after a repeat muscle biopsy performed in Houston, TX, Garrett was diagnosed with Mitochondrial Disease using a combination of very elevated blood lactate, respiratory chain Complexes II and III, atrophy of type II muscle fibers, mitochondrial that appeared to be stressed, 53% of mitochondrial DNA compared to average, but produces too many mitochondria, his clinical presentation of developmental and language delay, hypotonia, slow motility, constipation, and weakness, plus some other blood tests showing quirky organic acids. More blood was taken to test for mitochondrial DNA depletion syndromes. As of July 8, 2010, we have been told to wait a month before these tests for the most common three depletion syndromes is complete. Meanwhile, Garrett will slowly build up to taking a mitochondrial cocktail. First he will start CoQ10 three times daily, then two weeks later add Carnitor three times daily, then two weeks later add Riboflavin twice daily, and then two weeks later add Folate. This cocktail, as they call it, can cause great improvement in some people's condition. In others, visible improvement is not seen, however it is believed to slow the progression of this disease, and we are certainly all about that!!!
Now how about Addie?? Once an exact diagnosis of a specific type of Mitochondrial DIsease is pinpointed, and we were warned that science may not be quite able to do that yet, the mitochondrial specialist will use that final test to determine if Addie has the same type. She suspects she will. So we wait once more.
- June 12, 2010
I will update more as I know more!
