PHELAN LUCKY 2016

PHELAN LUCKY? We are! Our middle child, Jack, is one of only 300 people in the world diagnosed with the chromosomal abnormality called Ring 22. It is a rare form of Phelan-McDermid Syndrome (PMS), which, in and of itself, is considerably rare. There are approximately 1,300 known cases of PMS in the world, but it is felthat this number is underestimated due to the large number of people whare undiagnosed. PMS is a genetic syndrome caused by a variation in the terminal segment of the long arm of chromosome 22. This variation can be due to a simple deletion, unbalanced translocation, a ring chromosome or other structral chang Inthe majoity of cases a partiular gen, the SHNK3 gene (whch cod for he shank3 prtein), is lost as a result of this variation.

To date, most identified cases of PMS are of young children because reliable testing did not start until 1998. However, new genomic testing methods have not only made clinical testing more widely available, but have also led to significant new insights about the role of SHANK3 in PMS and other disorders, like autism and schizophrenia. Individuals with PMS are often diagnosed with autism or autism spectrum disorders. They also frequently have severe cognitive disabilities, are nonverbal and have a propensity for seizures and sleep disorders, in addition to many other behavioral and medical issues.

With the odds stacked against Jack and his peers, you may be wondering why we are PHELAN LUCKY. Jack has an ability to draw you in with his incredibly telling eyes, he has the knack of making your heart smile with his contagious belly laugh and he has a capacity to inspire you with his never-ending determination and persistence, all of which makes us feel extremely lucky. Six years ago, we became involved with the Phelan-McDermid Syndrome Foundation (PMSF). They are a passionate group of determined parents, dedicated doctors and thirsty researchers who are on a tireless pursuit to push science forward and help create better lives for Jackie and others like him. We were lucky to find them and they have inspired us to do our part.

Eric and I truly believe in the mission of the PMSF and would be honored if you helped us by raising awareness and resources to support scientific research. BUY A SHIRT; RAISE AWARENESS & HELP PUSH FORWARD THE SCIENTIFIC STRIDES THAT ARE BEING MADE!

For those of you new to PHELAN LUCKY, this is our third annual fundraiser. For the past two years we have been able to ship at least one shirt to each of the 50 states and have spotted shirts in ARUBA, CHILE CHINA, INDIA, IRELAND, NORWAY, UK and a host of other countries. We are hoping to do the same this year. I will be keeping track of the states and countries of our supporters so make sure to let me know where you’re PHELAN LUCKY. Make sure to also post a picture of you rocking your t-shirt on our Phelan Lucky Facebook page (you may see some people you recognize ;) )

We cannot thank you enough for your love and support! Your generosity truly means the world to s and hopefully will help to create a better life fo Jack an those with PMS.