Friday, February 1, 2008

An Explanation

Sometimes when I tell someone that Will has a rare genetic syndrome, I get a confused blank stare in return. I will admit that before I was blessed with William, I would have given the same blank stare. Dana, a mother of a child with RTS, gave this explanation and I thought that it was so easy to understand without all of the "doctor speak".

"People get confused between something being inherited and something being genetic. Carter's RTS is not inherited (eg. neither you nor his dad have RTS that you passed down), but it is genetic in that problem with a genes that happened for the first time in him caused his RTS. Now that his genetics are affected, if he was to go on to have children of his own, his children could inherit RTS from him (50%) chance). Your chance of having a second child with RTS is quite low and represents the chance that multiple egg cells or multiple sperm cells harbor the gene change (VERY unlikely). Your other children ARE NOT at increased risk to have children with RTS. RTS is fully penetrant which means if you have the gene mutation, you show manifestations of the disorder (eg. there are no "silent carriers" of RTS). Also, to reiterate something I told you when we first met-- nothing you (or Carter's dad) did or ate or were exposed to, none of the drugs you did in college, caused this to happen. When DNA is replicated, millions of base pairs are copied and sometimes mistakes are made. The cell has an editing system that picks up the vast majority of these mistakes but sometimes things are missed. There is no blame to lay, this was an out of the blue thing that happened and there was nothing you did to cause it and nothing you could have done to prevent it."

1 comment:

Jessica said...

Good idea, I avoid telling people because of the blank stare, I might post this on my blog too:)