As you know our daughter, Lola, has Phelan-McDermid Syndrome. The condition is typically caused by deletion, or loss, of the terminal segment of the long arm of chromosome 22. The loss may result from a simple deletion, an unbalanced translocation, a ring chromosome, or other structural change. In the majority of cases, the SHANK3 gene is lost as a result of the deletion; other cases have been described with mutations within the SHANK3 gene, which is Lola’s condition. It’s considered de novo and is extremely rare.
The SHANK3 gene, which codes for the shank3 protein, is found in the brain, heart, kidney and other organs. 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. PMS has been recently recognized as a genetic cause of autism and there is a “buzz” among researchers right now about kids like Lola.
Each year, hundreds of children with PMS are undiagnosed or misdiagnosed and fail to receive the early intervention they require to overcome the numerous obstacles ahead. However, with advocates across the world working together to discover treatments and links and the hundreds of families striving for a voice in the medical world, more children are being diagnosed and treated. As part of this effort, we are part of the Phelan-McDermid Foundation, a registered 501c(3) non-profit whose mission is to improve
the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.
The Foundation’s family success stories of independence and growth are made possible only because of the community’s support of our annual campaign, $22 for 22q in 22 days, which is why I am respectfully asking for your support through a contribution of $22 (or more) by the 22nd of this month to help those impacted at their 22nd chromosome.
If you are able to support our campaign, please send a check payable to: PMSF to Phelan-McDermid Syndrome Foundation, 200 Capri Isles, Blvd., Suite 7F, Venice, FL 34284 or log on at www.pmsf.org and make a contribution via PayPal. Be sure to include “in honor of Lola” so we can thank you for your generosity. Also, be sure to include your e-mail address so the Foundation can send you an acknowledgement of your tax deductible contribution.
The funds raised during this campaign are crucial to ensuring that every individual living with Phelan-McDermid Syndrome is given the ability to thrive and those living undiagnosed will receive the services they deserve. Thank you so much for your love and support of Lola and for your consideration in making a donation by the 22nd! You will become part of a growing and ground-breaking effort that will impact children and families across the globe.
Jim and Briana Vartanian