The National Health Information Center (NHIC) recently determined that Phelan-McDermid Syndrome Day and Phelan-McDermid Syndrome Week meet the selection criteria for inclusion on the National Health Observances Calendar.
The determination followed a wave of proclamation presentations earlier this year in nine U.S. states and the city of Bathurst in New Brunswick, Canada. After a grassroots effort by families in the Phelan-McDermid Syndrome Support Group, state representatives and governors across the country recognized the need to create more awareness about the rare disorder by proclaiming May 19 Phelan-McDermid Syndrome Day and July 21-27 as Phelan-McDermid Syndrome Week.
“These proclamations and presentations generated valuable attention for the Phelan-McDermid syndrome and helped our efforts to spread the word about this rare chromosome abnormality.” said Katy Phelan, PhD, FACMG, director of the cytogenetics laboratory at Molecular Pathology Laboratory Network, Inc. and founder of the support group.
In 1988, Phelan identified the loss of a small segment at the tip of the long arm of chromosome 22 while performing chromosome analysis at the Greenwood Genetic Center in Greenwood, S.C., on a newborn whose distinguishing characteristic was hypotonia, or poor muscle tone. In 1992, she and several collaborators published an article in the American Journal of Medical Genetics called “Cytogenetic, Biochemical and Molecular Analysis of a 22q13 Deletion” outlining her findings. Due to its chromosomal cause, the Phelan-McDermid syndrome is also known as 22q13 Deletion Syndrome.
Outreach to find and help families with the syndrome and other children not yet diagnosed was one of Phelan’s objectives after her discovery. In the years following her initial publication, Phelan was contacted by families whose children were diagnosed with this rare disorder. Thereafter, Phelan established a network of families with the goal of forming a parent support group. With the aid of a grant from the Mikel Foundation, the Deletion 22q13 Support Group held its first conference in August 1998.
Health observances on the National Health Observances Calendar are days, weeks or months devoted to promoting particular health concerns. Health professionals, teachers, community group and others can use this calendar to promote health events, stimulate awareness about certain disorders or educate the public about health risks and prevention. Now on the calendar as official health observances, Phelan-McDermid Syndrome Day will be recognized on May 19 and Phelan-McDermid Syndrome Week will be recognized during the last week in July each year.
For more information about Phelan-McDermid Syndrome and the 22q13 Foundation, visit www.22q13.org.
