We spoke to Dr. Mike Bamshad at the University of Washington’s Center for Mendelian Genomics today. He said that we should encourage any families who have a similar phenotype (presentation) as Milo to contact his center as their mandate via the NIH is to provide exome analyses for situations like these! Many families have had difficulty obtaining insurance approval for their exome analysis, so we were thrilled to hear this news! Please spread the word!
This article profiles the Might family’s use of exome sequencing to diagnose their child, and their search for more children like theirs. They have been our role models in our own search.
The article is gated for now. Hopefully the New Yorker will change that. This is too important for it not to be widely available.