About Milo


A Little About Milo

Our beautiful son, Milo, was born in December 2010. He has had some extraordinary challenges since then, including six surgeries and undiagnosed global developmental delays. He is currently in General Education at a wonderful public elementary school. Milo is a smart, charming and curious boy who is well loved by family and friends.

Milo has significant speech delays, and in his early years was in the "Alternative" category of being an AAC user (Alternative and Augmentative Communication). However, his speech is blossoming and Milo now uses his communication system to Augment his traditional speech (initially with PODD and now with TouchChat Word Power 80). Milo started walking on his own just before he turned 5 and still requires close spotting to ambulate safely. His fine motor skills are delayed but he is always making progress. He uses a mix of alternative pencils and traditional pencils to write. Milo is highly literate and excels on his weekly spelling tests!

It took many years of testing for us to figure out the likely cause of Milo's disabilities. We finally got a second opinion on an exome sequencing when Milo was 3.5 years old that led us to believe that a mutation on the gene KDM1A/LSD1 was the likely cause. Since then, we have partnered with the medical community to publish research on this mutation. We have also leveraged this website and social media to find other families who have children with a KDM1A/LSD1 mutation. We are a small tribe (<20 families globally as of early 2020) but very supportive!

If you are one of these families, please contact us and let's connect!

What caused Milo's disabilities?

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.

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.

Also - if you know of a researcher who is interested in epigenetics and KDM1A/LSD1, please put them in touch with us! This was the first discovered histone demthylase, so is important in the field of epigenetics.