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.
Thanks to this website, I just made contact with another mom whose son also has a KDM1A mutation. We weren’t sure if Milo’s KDM1A variant was a cause of his differences, but after speaking with this mom, I’m pretty sure we are on the cusp of defining a new syndrome. Our sons have so much in common and even look like they could be brothers! Friends, keep your fingers and toes crossed for us as we continue on this journey!! #milosjourney
As of June 2014, we are seeking second opinions on the original exome data that was gathered on Milo one year ago to see if anything material comes up. We will update this website as we have news. Milo has made great strides with his communication this month using the PODD system, which we adore. He also just started equine therapy, and loves it! We are keeping busy this summer!