October 22, 2018: Phelan-McDermid Syndrome Awareness Day
WHEREAS, it is important to accurately detect and test for Phelan-McDermid Syndrome, also known as 22q13 Deletion Syndrome, which is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene; and,
WHEREAS, this microdeletion is rarely uncovered by typical genetic screening, therefore a fluorescence in situ hybridization, or FISH test, or whole exome sequencing (WES) is recommended 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 exchange; and,
WHEREAS, although the range and severity of symptoms may vary, Phelan-McDermid Syndrome is generally thought to be characterized by intellectual disability of varying degrees, delayed or absent speech, symptoms of autism spectrum disorder, low muscle tone, motor delays, and epilepsy; and,
WHEREAS, it is important to raise awareness of Phelan-McDermid and promote education that will help inform citizens about this disease;
NOW, THEREFORE, I, Rick Snyder, governor of Michigan, do hereby proclaim October 22, 2018 as Phelan-McDermid Syndrome Awareness Day in Michigan.