Mysterious Genetic Condition Complicates Life for Milo: Family Reaches Out

August 1, 2014

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. These have left him significantly behind his typically-developing peers. He cannot yet walk independently, does not yet communicate consistently with words, and must be fed by hand.

On the flip side, Milo is always making progress and shows us every day that he wants to learn and grow. He is a sweet, gentle, curious and sociable boy who loves going to school, hanging out with his brothers and playing. He understands so much of the world around him and the things that we communicate to him. Even though he rarely uses words, he communicates quite a bit to us through other means. He is a bright, active child with his own opinions and passions (Music! Water! Dancing! Books! Swings! Doors! iPads!)

We have spent the better part of the last few years in and out of hospitals, medical appointments, and therapy sessions (physical, occupational, speech, feeding, aqua, equine…). We don’t know what made Milo this way. His differences might possibly be attributed to de novo changes in the ANKRD11 and KDM1A gene, resulting in a condition that is a little bit like KBG Syndrome and a little like Kabuki Syndrome, but not very typical of either. There is an article in the American Journal of Medical Genetics describing Milo for specialists and discussing the possible connection between these mutations and his condition. But it could be something completely different. Medicine does not yet know much about what these two genes even do in the body either at a microscopic/chemical level or in their broader influence on the body and its development. We hope this post will help us to connect with other families who have children similar to Milo.

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