I'd like to link to a conversation between Dr. Joseph Clark of the University of Cincinnati and a parent whose son was recently diagnosed with Creatine Transporter Deficiency. I find the dialogue exchange helpful and comforting.
Questions from a Parent of a Newly Diagnosed Creatine Transporter Deficiency Child
My only question is how can I - holder of an arts degree who hasn't taken a science course since high school - understand if a mutation (novel or otherwise) is considered severe?
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