Finding others like our MiloMilo’s primary challenges are global developmental delay and significant hypotonia. He has 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 and ANKRD11 genes that may be related to these issues, but these genes are not well understood. These mutations, combined with his physical features, suggest that all this may have some connection with KBG syndrome and Kabuki syndrome, but he does not present in a way that is typical of either.
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 study in the American Journal of Medical Genetics.
What "Milo's Journey" site is for
We put this page up to help us find other people like Milo. Finding more children with similar mutations or similar symptoms (phenotype) will make it easier for us and the doctors to understand what is happening to him and how we can best help him. And together help us all. [read more...]