We had a neuro appt today for the kids and the neuro's nurse called and asked us to come early but didn't know why. So we get there and the neuro comes in and asks if it's ok if we meet with one of his collegues. Sure. We had been asked one time before to come in early to meet another collegue which ended up being some high up doctor of something from off somewhere (how's that for accurate?) that was speaking at our neuro's morning lecture at the hospital. We reviewed Jake's history and got suggestions/thoughts, not that he really had any.
ANYWAY....
Turns out today, it's Dr. Alan Percy, he also had given a lecture or whatever this morning at the hospital, and made time to see us. This guy is the doctor who diagnosed the first case of Rett in the US and is like the top doc concerning RS.
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Working with genetic researcher Huda Y. Zogbhi, MD, Percy diagnosed the first confirmed case of Rett syndrome in the United States. Within 5 years, he had identified 100 patients who appeared to fulfill the diagnostic criteria for the syndrome. He also established the Blue Bird Circle Rett Syndrome Center at Baylor.
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Alan K. Percy, M.D., Professor of Pediatric Neurology, joined the UAB School of Medicine faculty from the Baylor College of Medicine in 1992 as Director of Sparks Clinics and Director of Pediatric Neurology. Prior to leaving Baylor, Dr. Percy was Director of the Rett Center, NICHD-funded interdisciplinary project, devoted to research and care of females with Rett Syndrome (RS). Dr. Percy is an internationally known researcher on RS and presently directs the UAB Sparks Clinics Rett Syndrome Research program.
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Dr. Percy was recently named one of America's Best Doctors on the www.bestdoctors.com web site. Only 4% of America's doctors are recognized in these listings based on surveys sent to leading specialists around the world.
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Of course he really couldn't tell us much. The kids are an enigma. Of course the kids don't present with typical RS characteristics. But he said the kids vary so much. The 2 main things they look at with kids who's head circ comes to such an abrupt stop at this age, is Rett and Angelman's (Jake tested neg for AS) . He said that both kids are so social and interactive, not what he would expect with Rett. Also there's the fact that I have the same mutation. He said it IS possible that I have something called X inactivation, where my bad copy of the X chromosome is being shut off so I am unaffected. BUT x inactivation is usually skewed and random, meaning in some cells the maternal copy is shut off, and in other cells the paternal copy is shut off, meaning both X's are there and being expressed in different cells, but if I had it, it would mean that I have totally inactivated the copy of the x chromosome with the mutation, and the good copy took over and I am healthy. And this is rare. But that would take big time expensive studies on me and there's not a lot of places that do that.
so they're still not convinced it's Rett, but still don't know what it could possibly be.
Anybody ever met Dr. Percy? It was pretty cool to get to be seen by the top dawg. He seemed nice.