Phelan Lucky Foundation
Phelan Lucky boldly redefines the idea of luck. For the families affected by Phelan-McDermid syndrome, a rare genetic disease, it’s a rallying cry that captures attention and shines a light on the strength, resilience, and unwavering spirit of a community united by this cause. Despite the challenges of this heartbreaking condition, Phelan Lucky speaks to the gratitude we feel for every step forward, every act of support, and every connection made on our journey.
Phelan Lucky turns the idea of luck on its head focusing not on chance, but on the powerful impact of community and awareness as we work towards creating a better and brighter tomorrow for those with #phelanmcdermidsyndrome. We are lucky to have found each other, lucky to unite for a kinder tomorrow, and lucky to make a real difference together. Our middle child Jack is one of only 500 people in the world diagnosed with a 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 3,750+ known cases of PMS in the world but it is felt that this number is low due to the large number of people who are undiagnosed. PMS is a genetic syndrome caused by a 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 changes. In a majority of cases, the SHANK3 gene, which codes for the shank3 protein, is lost as a result of the deletion. Other cases have been described with mutations within the SHANK3 gene.
Most identified cases of PMS are in small children because testing is usually done early in life and reliable testing did not start until 1998. 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, autism, and schizophrenia, and the possible impact of other missing genes in cases of PMS.
Individuals with PMS often have autism or autism spectrum disorders. Children diagnosed typically have severe cognitive disabilities, are non-verbal, and have a propensity for seizures and sleep disorders among a list of other presentations. With the odds stacked against Jack and his peers, you may be wondering why we are PHELAN LUCKY.
Jack has the 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 a capacity to inspire you with his never-ending determination and persistence that makes us feel extremely lucky. We have become involved with the Phelan McDermid Syndrome Foundation (PMSF), 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.
