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Laboratory Mice Cured Of Rett Syndrome

2418 words - 10 pages

There are no guarantees in life, just like there are no guarantees for every pregnancy to be a healthy one. Yet no one goes into a pregnancy fearing the worse either. For Bonnie Chaballa and her husband Steve, they had dreamed of one day having a very large family. They had a son in the fall of 1997 and a daughter in 1999. They were blessed once again in the summer of 2000 to find that they would be having another little girl the following year. Lily Hope was born on 26 March 2001, to not only proud parents but to two proud siblings. They quickly fell pregnant again when Lily Hope was just four months pregnant. They were thrilled as they wanted a big family. However their lives were changed ...view middle of the document...

Stage one can be called the early onset phase. It is in this phase, roughly before a baby is 6 months old, where the head circumference begins to slow is growth (Lindberg 2006). Most of the symptoms of this disease are easily overlooked as they are very subtle ones. Usually babies within this stage of Rett’s show a decrease in eye contact and become less interested in playing with their toys (IRSF, 2008). They also will show delays in their ability to sit unassisted and trying to crawl. When looking back at Lily Hope’s first 6 months, the signs were all there yet Bonnie and Steve did not see them as a concern. They had two older children and felt like most parents do when you say, “all kids are different and learn at a different level” (Bonnie, interview)
As kids turn one through the age of four, children of Rett syndrome slowly begin to lose the ability to talk and the use of their hands. For Bonnie and Steve, this is the stage when they started to notice a difference in Lily Hope (Bonnie, interview). Like many other children with Retts, Lily Hope began wringing her hands together, or constantly clapping them. It was like Lily Hope had no control over what her body was doing. There were times when they found their little girl holding her breath and even purposely hyperventilating. “It was at that moment that we knew something was wrong with our little girl. Yes she was slow at learning things from our other children but this was more then that. And it would be that moment when our doctor told us that we needed to get a neurologist appointment that our worst fears had come true.” (Bonnie interview).
Usually between the ages of 2, if you are lucky, through the age of 10, is what doctors call the third stage; a plateau stage. A child’s behavior will slowly improve however they still experience problems with mobility (RSRT, 2008). They will also cry less then other kids, they will not be as irritable, their alertness will improve as will their attention span and nonverbal communication skills increase slightly (RSRT, 2008). Sadly, not all children are lucky to stay in this stage.
For those that sadly reach the last stage, stage four, and these children lose everything. Their mobility decline back to that of stage one or even goes away completely where they are bound by a wheelchair for life (RSRT, 2009). . They also experience muscle weakness and scoliosis which is an abnormal curvature of the spine. For those children who have worked so hard to relearn how to speak and use their hands has that taken away in this stage when all hand eye coordination is gradually decreased (RSRT, 2008). Most children of Rett syndrome can live well into their 40s and beyond help and care of an assisted life, however there are a few of some reports of sudden death while they are sleeping.
Though there is no cure for Rett Syndrome there are many researches being performed at institutions and within charities to help understand the disorder...

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