This site 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 disabilities, 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 the KDM1A/LSD1 mutation is the primary cause of his disabilities.
We share more details of his history, symptoms, and test results on this website 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.