Guest guest Posted June 2, 2004 Report Share Posted June 2, 2004 Hi Bethany: Thanks for the welcome. I am so glad to have found this group! I had read about Grace at the " Wish Upon a Cure " website - she is so beautiful! Do you still see Dr Cohen or have you seen any other mitochondrial experts that you would recommend? Milo sees a neurometabolic doctor here at UCSF but they don't specialize in mitochondrial disorders. Does Grace have seizures? Did she always have feeding problems? How long ago was she diagnosed? What kind of supplements [mito cocktail] does she take? Milo is also non verbal but he does babble expressively. He has had seizures since he was 2 mos old and we've tried a long list of medications and they are still uncontrolled. He is also very happy and super mellow like your daughter, I worry that he will start getting " irritable " since that is one of the symptoms of Leighs. My best to you + your family - Liz > > Hi my name is Liz and I have a son, Milo [14 months old] > > who is suspected of having COX deficiency or Leigh's > > Disease based on his March 2004 MRI results. He just > > had a muscle biopsy here at UCSF (san francisco) and they > > sent the frozen muscle to Columbia in NY. > > > > His MRI shows symmetric irritation/inflammation of the brain stem > and > > basal ganglia. His docs would not give a prognosis except to say > > he will either improve a little or start to deteriorate. > Everything I > > read about Leigh's is very negative. They did put him on COQ10, > > Vit C and Carnitor. He has had seizures since he was 2 months old, > is > > hypotonic and delayed. He can roll over but cant sit unasissted > > or walk. He has never had feeding problems. > > > > So I was very interested in reading about Dr. Shoffner and the > Fresh > > vs. Frozen debate. Milo's neurometabolic doctor feels that the > frozen > > biopsy is as accurate and I guess I also wasn't excited about > making > > a big trip to Atlanta or Cleveland and coming home with a > > fussy baby. I am hoping that the frozen biopsy does not turn out to > > have been a waste of time. We're also hopeful that they can find > the > > gene causing the problem. > > > > There is no chapter of UMDF in my area, (Northern CA) but I did > join > > the UMDF, its been a great resource. > > > > Thanks for reading! > > > > Liz, mom of Milo [14 mos] Quote Link to comment Share on other sites More sharing options...
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