Erin Ballou wrote -
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In February, 2014, I will be "Running for Princess Avery" – my niece -- in the Disney Princess 1/2 Marathon, and raising money for the Phelan-McDermid Syndrome Foundation, the organization that helps support families of those with this rare genetic disorder.
My brother's youngest daughter, Avery Creese, was diagnosed with Phelan-McDermid Syndrome (PMS) in September, 2013. In short, it is a genetic disorder that takes place “de novo” or 'at the beginning' and is a deletion at the 22nd chromosome, specifically 22q13. This came via a blood test after years of searching for a diagnosis to her “developmental delay.” As you can imagine, it was crushing news for my brother and our family. We are now hoping that through advocacy, the support of friends and family and a little hard work, we can help bring awareness and assistance to the small organization which is clearly doing big things, PMSF.
There are less than 1,000 known cases of PMS in the world. That equates to about one in every 11 million.
Specifically, Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22. The SHANK3 gene is found in the brain, heart, kidney and other organs, though its most important role is in the brain. It supports the structure of excitatory synapses and is involved in processes crucial for learning and memory. It also has an important, if not fully understood, role in proper brain development. Defects of the SHANK3 gene are highly associated with autism. Individuals with Phelan-McDermid Syndrome often have autism or autism spectrum disorders.
There is a wide range of severity of symptoms observed in people with Phelan-McDermid Syndrome. Like other autism-related syndromes, PMS is associated with intellectual disabilities, sleep disorders and seizures. Most children with PMS have moderate to severe delays and often never develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems with eating and sleeping. In Avery’s case, there are unfortunately large deletions. For unknown reasons, toilet training is often difficult in this population. In spite of these issues, infants with PMS tend to be easily to amuse and adults often have a sweet disposition, both of which very much apply to Avery.
The PMS Mission as stated on its website is “to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness." I can tell you that in a short time of dealing with this organization, they ARE a tremendous group and a great help. My family has already experienced that.
I want to help raise awareness for Phelan-McDermid Syndrome and the PMSF by raising money through my run in honor of Avery. I also welcome those interested in joining “The Avery Team.” If you want to run in the Princess Half Marathon or were already planning on it, we would appreciate you supporting this cause, this year, and joining us.
Please consider making a donation for the PMSF, in honor of Avery, and the families affected by PMS worldwide. I GREATLY appreciate your support and assure you that every step I take during training and at the Half Marathon in February, will be in honor of Avery, the PMSF, and my AWESOME donors!!
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