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by Ellie Bennet
When Cecilia was diagnosed with Phelan-McDermid Syndrome at 13 months, neither we nor her pediatrician had any idea what her specific deletion on the 22nd chromosome meant. Even though my husband and I are both in the medical field, we had no idea what to expect. It was a Thursday night when we received the call with her genetic test results. We already knew from a brain MRI earlier that week that she had an arachnoid cyst and white matter damage in her brain. After a period of shock and grief, we took to the computer and typed in “22q13 deletion”. We quickly found the words Phelan-McDermid Syndrome. We reached out to Dr. Katy Phelan, who co-discovered the disorder, and she pointed us to the Phelan-McDermid Syndrome Foundation, which we have found to be an extremely informative and supportive advocacy organization.
After weeks of reading about PMS online, we came to the stark conclusion that there was simply not enough known about a disorder that would come to have a dramatic effect on our everyday lives. We knew we had to do something to support PMSF in a way that would allow for more research to understand the causes, treatment, and natural history of PMS. Cecilia’s Advice was born out of that deep commitment to fostering research and family support for the thousands of families worldwide affected by PMS. Although our non-profit was formed in early 2019, our inaugural fundraiser had to be cancelled in 2020 as a result of restrictions related to the COVID-19 pandemic. We will be extremely excited (after two years of work) when we can finally present PMSF with a check after our inaugural annual fundraiser in June 2021.
Cecilia’s Advice Inc is a 501(c)(3) in the state of Indiana. Our overarching goal is to generate awareness and provide resources for research through regular fundraisers to benefit the Phelan-McDermid Syndrome Foundation. 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. Cecilia’s Advice plans to continue regular fundraisers moving forward since there is a vast chasm between what we know about PMS, and what our children need and deserve, and the only way to bridge that is more research, more advocacy, and more support.
Cecilia is our bright light, our daily reminder to be grateful. And we will do everything within our power to keep her shining.