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Phelan-McDermid Syndrome Awareness Day


WHEREAS, the health and safety of all Virginians is important to the happiness, prosperity, and well-being of our Commonwealth’s families and communities; and

WHEREAS, Phelan-McDermid syndrome, also known as 22q13 deletion syndrome, is a rare genetic disorder caused by the 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 exchanges; and

WHEREAS, although the range and severity of symptoms may vary, Phelan-McDermid Syndrome is generally 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, the Commonwealth of Virginia joins in raising awareness of Phelan-McDermid syndrome and promoting education that will help inform citizens about this disease; 

NOW, THEREFORE, I, Ralph S. Northam, do hereby recognize October 22, 2019, as PHELAN-MCDERMID SYNDROME AWARENESS DAY in our COMMONWEALTH OF VIRGINIA, and I call this observance to the attention of all our citizens.