Thanks to this website and related social media coverage, we now know of 4 boys in the US (plus one in Greece) with heterozygous, de novo variants on KDM1A/LSD1. All of them are under the age of 6, all of them share very similar physical features (even look like they could be brothers!), and we do not think it is a coincidence that they are all boys. We are convinced that there are teenage boys and men out there with similar mutations, but since exome sequencing was not made widely available until 3-4 years ago, most of those guys have likely gone undiagnosed or just lived with a non-specific label like CP. [Side note: I have a theory that most families and clinicians kind of give up on finding a true diagnosis after the age of 6 or 7, so if a boy was older than that in say 2013, it’s unlikely that an exome sequencing is being recommended. If the cost of sequencing continues to come down, this may make it easier for us to build our tribe; fingers crossed!]. Our hope is that if we can build our tribe and find older KDM1A/LSD1 patients, we will get a stronger sense of how guys with a mutation like this develop and progress over time. Please help us spread the word!
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!