WHEREAS, Phelan-McDermid syndrome, also known as 22q13 deletion syndrome, is a rare genetic disorder caused by the deletion or structural change of part of chromosome 22, or a mutation of the SHANK3 gene; and
WHEREAS, although the range and severity of symptoms may vary, Phelan-McDermid syndrome is generally characterized by some degree of intellectual disability, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and/or epilepsy; and
WHEREAS, is estimated that 1 percent of people with autism have Phelan-McDermid Syndrome; this genetic condition is often undetectable in standard genetic screening and requires a fluorescence in situ hybridization (FISH) test or whole exome sequencing (WES) to confirm the diagnosis; and
WHEREAS, individuals, parents, and advocacy groups can increase awareness of Phelan-McDermid syndrome and its symptoms through scientific education opportunities and informational exchanges; and
WHEREAS, the State of North Carolina joins in raising awareness of Phelan-McDermid syndrome and encourages people to promote resources, advocate research, and provide support for individuals and their families who are affected by this disease in our communities;
NOW, THEREFORE, I, ROY COOPER, Governor of the State of North Carolina, do hereby proclaim October 22, 2020, as “PHELAN-MCDERMID SYNDROME AWARENESS DAY” in North Carolina, and commend its observance to all citizens.