Guest guest Posted December 18, 1999 Report Share Posted December 18, 1999 Hi , Could you forward me Dr. Bay's Email or forward this request so that she can send it to me herself? Dr. Bay had contacted me via the Noonan list back when it there was a question that Alycia might have Noonans. Dr. Bay spent quite a bit of time reading Alycia's history and thought that she might have Swartz-Jampel syndrome. I got a bit overwhelmed by all the possibilities and requested that Dr. Bay stop looking for possibilities for a while because I was getting too stressed. In the mean time, Alycia was seen by a Dysmophology genetcist while she was hospitalized at Childrens and he seems to think she has Dubowitz syndrome. He and another neurologist both said that they didn't think she had Swartz-Jampel but they could see how one would make the diagnsosis as her features are similar, plus, Dr. Bay only had a photo while they had the real child in front of them. Dr. Huang, the Dysmorphology geneticist wanted Dr. Bay's phone number or email address because he was interestested in Dr. Bay's input. Would you mind finding her address/phone/email etc. since I can not locate it? Thanks. Lori Downs " E. Owen " wrote: > > > I thought I could add a little to the discussion on calcium and > mitochondrial diseases. > > I have recently been diagnosed with vasospasms which they > believe are contributing to my migraines, reynalds phenomenon, > pulsating hearing loss, and diagnosis of printzmetals angina. I have > been given a calcium channel blocker to treat this. > > Dr. Carolyn Bay from Children's Hospital in Pittsburgh is currently > involved in research on mitochondrial diseases. A few months ago > she was explaining (in scientific terms--so I may not have gotten it > all) that she believes that magnesium and calcium flow in and out > of the cell are very much a part of mitochondrial disease. She even > said that we may help prove some of her theories about this. > > I think the bottom line is there is just so much that they don't know > yet. I am confident and hopeful that in another 10 years the > understanding of mito and how it effects the cells and our health > will be much better understood. > > > (Complex I and III) > > > Brought to you by www.imdn.org - an on-line support group for those affected by mitochondrial disease. Quote Link to comment Share on other sites More sharing options...
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