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 […]Read More
Milo’s Medical Timeline: Symptoms, Tests, and Surgeries Below is a quick list of symptoms, keywords and identified mutations for parents and doctors wondering if their child or patient might be dealing with something similar. These are roughly […]Read More
This page is for parents, doctors, or researchers who may know of other people like our son, Milo. If you know of a similar case, please get in touch with us. The more cases we have, the more opportunities we will have to improve our understanding of his condition and facilitate research that can help him and others.
Finding others like our Milo
Our son Milo has complex special needs, including global developmental delays. He had surgical repairs for a minor cleft in his soft palate, for ptosis, for C1 stenosis, for a tethered spinal cord and for removal of tonsils/adenoids. He has de novo mutations on the KDM1A/LSD1 and ANKRD11 genes, and we are fairly confident at this point that it is the KDM1A/LSD1 mutation that is the primary cause of his issues.
More details of his history, symptoms, and test results, described here as well as pictures at different ages to facilitate identification of similar cases. Medical professionals may wish to refer directly to his case studies in the American Journal of Medical Genetics and in Genetics in Medicine.