Meet Alexis Minor, nicknamed “Lu Lu” and hope is in her genes! Alexis is one in 600 known people to have Phelan McDermid Syndrome (PMS), also known as 22q13 deletion syndrome. This genetic disorder is caused by a microdeletion on chromosome 22 and is characterized by general hypotonia, absent to delayed speech, and global developmental delays. Like her photo states, Alexis (“Lu Lu”) definitely resembles an angel. As rare as Phelan McDermid Syndrome (PMS) may be, there is hope among the 22q13 community.
The Phelan McDermid Syndrome Foundation is hosting their Family Conference and Scientific Symposium this July 25-28, 2012. Their biennial conference will be held in Orlando, Florida.