Alaina exuberates joy and is such a blessing to our family. She  is turning 22 this month, and we want to celebrate by raising funds for the Phelan-McDermid Syndrome Foundation )PMSF). Alaina was diagnosed with Phelan-McDermid Syndrome (PMS)  in 2007 .When she was diagnosed there were only 500 people diagnosed in the entire world. PMS is a rare genetic condition and the cause of her autism, cerebral palsy, epilepsy, being nonspeaking, intellectual disability, and her many medical conditions. Her 22nd birthday is significant because Phelan-McDermid Syndrome is a 22q13 deletion - so $221.30 it is or $22 in 22 days!
Alaina has a smile that lights up a room and eyes that speak volumes. She loves to dance to the credits at the end of movies. She loves honey buns, riding escalators, watching the University of Tennessee Southern sports, swimming, and most of all people watching. She loves playing Abigail's Plan (Miracle League Baseball), participating in MADE, TN Out &  About: Group for AAC Users,  and 4-H. She uses an AAC (augmentative and alternative communication) device to help her communicate. She is a self advocate for powered, height-adjustable adult size changing tables and has traveled the state of Tennessee visiting locations that have installed them.
Alaina has been through a great deal medically throughout her life. She has had kidney surgery and sees a great deal of specialists routinely. She has been in therapies such as speech, occupational therapy, and physical therapy since before she turned 2. We wouldn't know what to look for and the questions to ask if it were not for the Phelan-McDermid Syndrome Foundation and their medical advisory. While there is no cure for PMS, the PMSF is constantly working on research to help us better understand it and navigate the various conditions associated with it. They offer free support groups led by professionals. It is nice to have other parents to talk to about what we experience.
This summer we attended the Phelan-McDermind Syndrome Family Conference. We met other phamilies in person and learned about things from how to help with her seizures and gastrointestinal needs, to hearing from current researchers, as well as future ones, and even attended parent-led sessions on service dogs, group homes, advocacy, and future planning. The week taught us so much, but like so many of the things the PMSF does, it brought us close to our people-our community- our phamily.
By donating to the PMSF, you are donating to Alaina and helping her! So, we invite you to help us celebrate Alaina and the blessing she is to so many by donating to the Phlean-McDermid Syndrome Foundation.