Some of you here may recall that I've written previously about our grandson. Since he was about 2, he has generally been diagnosed as autistic, with severe learning disabilities (he has never learned to speak) and lack of coordination. Over the past three years he has also developed symptoms which appeared to cerebal palsy. Whereas once he could walk, albiet awkwardly, he no longer can; he's confined to a wheelchair. His head has to be braced because his neck cannot support the head weight. And at about the same time this started, he began having severe seizures. Well, after a recent round of genetic testing, it turns out that he has neither autism nor cerebal palsy. It's something called Rett syndrome. I've been doing some reading today, and it's a genetic problem that prevents brain cells from developing due to the inability to synthesize an important protein. The typical progress of the disease fits our case: unnoticed until about 18 months, at which point delayed development is noted. Still, there is progress for a while, but then later in childhood symptoms worsen and previously acquired skills (like the ability to walk) are lost. It's the regression that makes it particularly devestating. The neural system just progressively shuts down. In fact, there are documented cases of Rett victims whose eventual death came about because their brain stems just quit functioning. Because it's a defect of the X chromosome, incidences of Rett syndrome are confined almost entirely to females. In males, usually damage to the neurological system is so severe that male fetuses with Rett seldom survive to term. In fact, it appears that there may be fewer than 5,000 known cases in the world of Rett in males born alive since the syndrome was identified. Because of the lack of male survivors, there has been almost no research done on Rett in males. So we don't have much of a road map to go by in terms of the grandson's future prospects. Well, at least we have identified the real root cause now. At this time, there is no treatment or therapy for Rett syndrome. There is some animal research that seems encouraging; the work suggests that the neural cells that have been effected by the syndrome have not died or atrophied, but are simply holding in an inmature, dormant state. The reserach suggests that if the missing protein can be infused from an external source, the cells may develop and begin to function normally. Apparently, it's a tricky bit, because the same treatment can kill the cells that did develop normally. The trick is to find some method of delivery that can distinguish and only deliver the protein to the undeveloped cells. Anyway... thanks to everyone who has previously expressed concern. I thought I'd pass this info along.