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!
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