October 22nd is the National Awareness Day for Phelan-McDermid Syndrome (PMS). This is a special day for Ava, her mom and dad (Mike and Tara Feagins), her family, and all other individuals affected by this rare syndrome. We will be celebrating this year on October 28, 2023 with our 2nd Adventure with Ava Jeep/UTV ride. If you would like more details and to join us please register at: https://avasadventure22.wixsite.com/ava22
Who is Ava Feagins?
Ava Rose was diagnosed with Phelan-McDermid Syndrome in 2012, after a long year of visits to Riley Children's Hospital. She will be 13 years old on October 27, 2023! Ava enjoys all adventures outside- swinging, gardening, riding tractors, and boating. She also loves basketball, playing with her babies, yoga, the YMCA, ABA therapy and her respite nurses. Ava attends Batesville Middle school and adores her teachers and friends. Ava loves her cousins and her dog, Stella. Ava is sweet (with a little sass), silly, smart, full of love and life, and unique; she is one of only 3,200+ individuals worldwide diagnosed with Phelan-McDermid Syndrome.
What is Phelan-McDermid syndrome?
PMS is a rare genetic disorder caused by a deletion of the distal long arm of chromosome 22 or by a pathogenic variant in the SHANK3 gene.
What are the symptoms?
As with many rare conditions, there are varying symptoms. PMS can cause a wide range of medical, intellectual, and behavioral challenges. Individuals with PMS may show symptoms in early childhood. They often have low or weak muscle tone, and developmental delays.Those affected by PMS typically have moderate to severe developmental and intellectual impairment. Most do not develop functional language.
The mission of PMSF is “to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and awareness,” which could not be closer to our own goals of this event!
For more information please visit https://www.pmsf.org.
If you have any questions, please contact Lynsey Crowell by email: avasadventures22@gmail.com.
Thank you!