PHELAN LUCKY? We are! Our middle child, Jack, has a rare genetic condition called Phelan- McDermid Syndrome (PMS). Currently, there are only 1,400 people in the world that have been diagnosed with PMS - although, many believe this number is underestimated due to the large number of people who are undiagnosed. In any event, based on current data and statistics, Jack is 1 in 5,374,615!
PMS is a genetic condition caused by a variation in the terminal segment of the long arm of chromosome 22. Wait, what? Simply put, it’s a chromosomal variation that could be due to a simple deletion, an unbalanced translocation, a ring chromosome, a genetic mutation or other structural change to the chromosome. In the majority of cases, a particular gene, the SHANK3 gene (which codes for the shank3 protein), is either mutated or deleted as a result of this variation.
To date, most identified cases of PMS are in 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 developmental and 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? Here’s why: this campaign shines a light on what an incredible person Jack is and on the amazing people that are fighting for his well-being! Is it easy to have a special needs child? No. But Jack has an ability to draw you in with his incredibly telling eyes, he can make 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. Fourteen years ago when Jack was born, we were told he’d never walk. 11 years ago Jack walked into his doctor’s office - and he’s been unstoppable ever since.
In 1998 a small group of parents affected by PMS and longing for peer support believed that together they could make a positive difference in the lives of their children. The idea of the Phelan-McDermid Syndrome Foundation (PMSF) grew out of a desire for family support and raising awareness of the rare genetic condition. What started out as a vision by about two dozen families affected by PMS has become nearly 20 years later a vibrant, influential international Foundation working on behalf of more than 1,400 people diagnosed with PMS. Family support was its founding principle, but the Foundation now also funds critical research, raises awareness internationally and mobilizes families to advocate for those with PMS and others in the special needs communities. PMSF is committed to connecting families, researchers, decision-makers and stakeholders and accelerating the search for a cure. Eric and I truly believe in the mission of the PMSF and humbly request your help. Please support this year’s campaign and buy a Phelan Lucky 2017 shirt. Your Phelan Lucky shirt purchase raises critical research dollars. When you wear your shirt, you raise critical awareness.
For those of you new to PHELAN LUCKY, this is our fourth annual fundraiser. For the past three years, we have succeeded in raising almost $80,000 and have been able to ship at least one shirt to each of the 50 states and have spotted shirts in ARGENTINA, ARUBA, BRAZIL, CHILE, CHINA, ICELAND, INDIA, IRELAND, ITALY, MALAYSIA, NEW ZEALAND, SPAIN, NORWAY, the UK and beyond. 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 follow us and post a picture of yourself rocking your t-shirt on our social media platforms: Facebook (@22q13), Twitter (@Phelan_McDermid & @PhelanLucky2213) and Instagram (@phelanlucky22q13). You’d be surprised to see who is Phelan Lucky!
We cannot thank you enough for your love and support! Your generosity truly means the world to us and hopefully will help to create a better life for Jack and those diagnosed with PMS.
Jen & Eric Randolph and everyone at PMSF