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Reaching out

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.

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Milo's Journey

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.

What the “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...]