Shannon

Shannon O'Boyle is a 15-year-old girl living in Arlington, VA with her parents and two older brothers. Shannon was diagnosed with Phelan-McDermid syndrome (PMS) at 6 months of age. This rare syndrome can cause intellectual disability, autism, epilepsy, ADD, hypotonia, severe communication impairment, and other medical conditions. Shannon is a happy teen. She loves to attend her special needs school 12 months of the year. She works hard in outside activities like horseback riding and swimming. Shannon has never met a food she didn't like, and her favorite thing to do is to MOVE. Her day usually starts at 4:30 a.m. If she isn't watching one of her favorite Disney Jr. shows, she is jumping on the mini trampoline in our living room. Shannon needs assistance in all daily skills (dressing, eating, bathing, grooming, etc.), but she continues to acquire new skills. Although Shannon is non-verbal, she is working on communicating with an iPad, and she gets her point across in several non-verbal ways. ;-)

~Megan, Shannon’s Mom

Phelan-McDermid Syndrome

Phelan-McDermid syndrome is a rare chromosomal disorder in which a portion of the long arm of chromosome 22 is missing. Although the range and severity of symptoms may vary, Phelan-McDermid syndrome is generally thought to be characterized by low muscle tone, normal to accelerated growth, absent to severely delayed speech, moderate to profound mental retardation, and minor dysmorphic features. A rare number of cases with much smaller deletions of 22q13 are reported to result in mild developmental delay. Current research indicates that the inability of the gene involved to produce sufficient protein for normal functioning may be responsible for most of the neurologic symptoms associated with this disorder.

Artist: Marco Jaxa