After a year of looking for answers to explain her son’s developmental delays, Jen’s son Asher was diagnosed with Joubert Syndrome (JS) in May of 2016. The Joubert Syndrome and Related Disorders Foundation (JSRDF) is where Jen and her family turned to learn critical information about the disease and, thankfully, where they also discovered a strong support system.
Photos care of Jen Brady
The occurence rate of Joubert Syndrome is between 1/100,000 and 1/80,000. Jen says that, as one can imagine, having a child with a rare disease feels very isolating. Many doctors, if they are even aware of JS, can only provide huge and essentially unhelpful ranges for developmental expectations, life expectancy, and other anticipated metrics, adding to the sense of overwhelm many parents experience. Jen says, “Finding other families with whom to grieve, celebrate, and strategize is critical to being successful and pressing forward with the challenges JS - or any rare disease - presents. Finding this group was a lifeline. Watching those with JS see others like them and engage, watching families feeling completely safe and not at all judged even in the hardest moments, and getting research updates and education on all the facets of navigating life with a loved one who has special needs is priceless.” In addition to providing these lifesaving opportunities and resources, the JSRDF also works closely with researchers to further the medical understanding of JS and contribute to the discovery of medical treatments that could increase the life expectancy and quality of life for affected individuals.
Photos care of Jen Brady
Last summer, Asher participated in a campaign with his local early intervention group, The Resource Exchange, teaming up with Positive Exposure to highlight the beauty that can be found in differences. Then, when Jen was purchasing a pair of PLAE shoes for Asher, she saw the checkout PLAE-it-forward (PIF) program pop-up and thought that participating in PIF would be an amazing way to raise more awareness about JS and reach a much larger audience than could be done locally in her community. She applied to the PIF program to support the 501(c)3 JSRDF, was accepted into the program, and is now meeting her goal of extending the exposure her family provides for JS beyond their local community! Show Jen, Asher, and other families affected by JS that you are paying attention and care by using checkout code GIVE377 to donate 10% of your PLAE purchase directly to the JSRDF today! Also, check them out on Facebook!