Eagle Rare Life Award Nominee

Katy Phelan

Date Added

November 30th, 2016


Phelan-McDermid Syndrome Foundation






The voting for the contest is closed

“Phelan Lucy ”

Katy is a quirky Irish girl who group up in Florida to be a doctor. She was devoted to her work and in 1998 came across some individuals seeking answers to explain why a child could not talk why they could not walk why they did not meet developmental mile stones. Through her tireless efforts and hard work she would find the cause with Heather Mcdermid. A rare deletion on the 22 chromosome. With symptoms that are closely related to Austism. Dr Phelan continues to research for answers. Her research has lead to breakthroughs with the shank 3 gene, which is associated with Alzheimer's and Austism and individuals with 22q13.3 deletion syndrome. A rare disorder, Phelan McDermid syndrome (PMFS) effects approximately 1,500 people world wide.thats 1:11million. Dr Phelan continues to support families through out the world . Through her tireless research efforts and the foundations named after her she continues to help all that seek answers and support . Her tireless efforts, her devotion to research, and for treatments and a cure is priceless....she is a blessing to many !