Guest guest Posted December 7, 2004 Report Share Posted December 7, 2004 Hi Beth, You mentioned you see a neurologist at Dartmouth. Is it Dr. Filiano? We took our son to him this summer. He's still without a dx, though. We were impressed with everyone at Dartmouth! They are top-notch (we live in Memphis area). Mama to Seamas, 9 and Liam, 4 - myoclonic seizures, global dev. delay, short stature, possible mito?? - no dx. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 8, 2004 Report Share Posted December 8, 2004 Yes we DO see Dr. Filiano. We really like him. He has always taken extra time to explain things. I do a LOT of research and he always talks to me like an equal. It is simply my nature to question EVERYTHING Did you see anyone else there? Did they do a muscle biopsy? If you don't mind my asking, what are your son's symptoms? Should you ever have to come back to Dartmouth, I only live 45 minutes from there. I would be glad to help out in any way that I can! > > Hi Beth, > > You mentioned you see a neurologist at Dartmouth. Is it Dr. Filiano? > We took our son to him this summer. He's still without a dx, though. > We were impressed with everyone at Dartmouth! They are top-notch (we > live in Memphis area). > > > Mama to Seamas, 9 > and Liam, 4 - myoclonic seizures, global dev. delay, short stature, > possible mito?? - no dx. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 8, 2004 Report Share Posted December 8, 2004 He just saw Alice Mello and Dr. Filiano. Liam has had a muscle biopsy previously, which turned up negative for the basic mito tests, and then the NIH sent the tissue to town Univ. lab, where the last bit of tests (including doing a mtDNA sequencing on my blood) is being wrapped up. The first phase of their testing which looked for several known mutations and deletions came up negative. Filiano did some more blood work, urine workup, and spine fluid tests for neurotransmitters. The only things that came back abnormal were blood uric acid and 3-methyglutaconic acid. We are retesting those. The pediatric cardiologist here in Memphis found Liam has a slightly dilated heart, but it is not yet at a cardiomyopathy stage. He suspects Barth Syndrome. Barth patients often have mitochondrial abnormalities. Liam's main symptoms are: myoclonic seizures beginning at age 5 months, undescended testes at birth, short stature, very globally delayed (cannot talk or walk, but just started crawling), sensory issues, and a great lack of energy (he tires so easily). He is pretty healthy otherwise - e.g. no GI issues, no problems with infections, etc., and a wonderfully happy child. He's now 4 years old. Thanks so much for the kind words and offer to help! I do wish we lived closer to Dartmouth because we cannot find a good ped. neurologist in the Memphis area. We actually found out about Filiano from a friend of ours who did his residency at Dartmouth about a year ago. thanks, Mama to Seamas, 9 and Liam, 4 - myoclonic seizures, global dev. delay, undescended testes, short stature - possible mito? --- no dx. > > > > Hi Beth, > > > > You mentioned you see a neurologist at Dartmouth. Is it Dr. > Filiano? > > We took our son to him this summer. He's still without a dx, > though. > > We were impressed with everyone at Dartmouth! They are top-notch > (we > > live in Memphis area). > > > > > > Mama to Seamas, 9 > > and Liam, 4 - myoclonic seizures, global dev. delay, short stature, > > possible mito?? - no dx. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 8, 2004 Report Share Posted December 8, 2004 He just saw Alice Mello and Dr. Filiano. Liam has had a muscle biopsy previously, which turned up negative for the basic mito tests, and then the NIH sent the tissue to town Univ. lab, where the last bit of tests (including doing a mtDNA sequencing on my blood) is being wrapped up. The first phase of their testing which looked for several known mutations and deletions came up negative. Filiano did some more blood work, urine workup, and spine fluid tests for neurotransmitters. The only things that came back abnormal were blood uric acid and 3-methyglutaconic acid. We are retesting those. The pediatric cardiologist here in Memphis found Liam has a slightly dilated heart, but it is not yet at a cardiomyopathy stage. He suspects Barth Syndrome. Barth patients often have mitochondrial abnormalities. Liam's main symptoms are: myoclonic seizures beginning at age 5 months, undescended testes at birth, short stature, very globally delayed (cannot talk or walk, but just started crawling), sensory issues, and a great lack of energy (he tires so easily). He is pretty healthy otherwise - e.g. no GI issues, no problems with infections, etc., and a wonderfully happy child. He's now 4 years old. Thanks so much for the kind words and offer to help! I do wish we lived closer to Dartmouth because we cannot find a good ped. neurologist in the Memphis area. We actually found out about Filiano from a friend of ours who did his residency at Dartmouth about a year ago. thanks, Mama to Seamas, 9 and Liam, 4 - myoclonic seizures, global dev. delay, undescended testes, short stature - possible mito? --- no dx. > > > > Hi Beth, > > > > You mentioned you see a neurologist at Dartmouth. Is it Dr. > Filiano? > > We took our son to him this summer. He's still without a dx, > though. > > We were impressed with everyone at Dartmouth! They are top-notch > (we > > live in Memphis area). > > > > > > Mama to Seamas, 9 > > and Liam, 4 - myoclonic seizures, global dev. delay, short stature, > > possible mito?? - no dx. Quote Link to comment Share on other sites More sharing options...
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