A little about Milo
Our beautiful son, Milo, was born in December 2010. He has had a complicated life since then, with six surgeries and undiagnosed global developmental delays. He started walking on his own in summer of 2015 and still requires close spotting to do this safely. His fine motor skills are delayed but he is making progress and slowly taking to writing with a traditional pencil. He is also able to use alternative pencils to write (and he is pretty good at spelling!). He has significant speech delays but understands everything we say. He is quite adept at expressing himself using an alternative communication system known as the PODD.
Milo is currently in a wonderful, inclusive general education school where he has formed genuine friendships and is considered academically on grade level. He reads, he writes, he does math – we think he’s a smart little cookie! He is a sweet, gentle, curious and sociable boy who loves going to school, hanging out with his brothers and playing. We have very high hopes for his future and want to do everything we can to help him be the best that he can be!
We have spent the better part of his first few years of life in and out of hospitals, medical appointments, and therapy sessions (physical, occupational, speech, feeding, equine, aqua…). Eventually we came to a point where we wanted to reach outwards in hopes of finding other families to connect with. Milo remains a medical mystery in many respects.
What made him this way?
We are increasingly confident that Milo’s de novo missense variant on KDM1A/LSD1 is the cause of his condition. Milo’s initial exome results are described in the American Journal of Medical Genetics. This milosjourney.com website and other outreach efforts led us by 2015 to identify two other children with KDM1A/LSD1 mutations who shared some of Milo’s characteristics. A team based at the University of Washington’s Center for Mendelian Genomics did a follow-up study, published in Genetics in Medicine, that narrowed our focus to KDM1A/LSD1.
As of March 2017, we have five confirmed global cases of young boys with mutations on KDM1A/LSD1. But this is not yet a statistically significant population, so we are hoping to build our tribe and foster more medical research so we can better understand these mutations and their effects.
Please help us by spreading the word! If you know of someone who looks like Milo and has similar issues to what we have identified on this website, please connect with us! By building our tribe and our knowledge of this disorder, we can collaborate more effectively and truly help our kids be the best that they can be.