Tackling Rare: "Uplifting Athletes" Highlights Genetic Disorder at Rare Disease-Focused Conference for Student-Athletes

When Philip Moss was in kindergarten, his parents noticed a lump on the side of his neck. After rounds of antibiotics and a simple surgery for what was supposed to be a swollen lymph node, Philip was diagnosed with neurofibromatosis type 1 (NF1).

An incurable genetic disorder, NF1 affects 1 out of every 3,000 children. The condition is caused by mutations in the NF1 gene, which can be inherited or occur spontaneously. The nonmalignant tumor on Philip’s neck, called a plexiform neurofibroma (PN), develops in up to half of people with NF1 and can grow on nerves anywhere in the body. In addition, NF may lead to blindness, deafness, bone abnormalities, disfigurement, learning disabilities, disabling pain and cancer.

Philip is now a teenager and thriving. His mom Renie had the opportunity to share their story at this year’s Uplifting Athletes Leadership Development Conference. Uplifting Athletes is a nonprofit organization whose mission is to inspire the rare disease community with hope through the power of sport. Uplifting Athletes has a network of chapters including more than 20 college campuses across the country run by student-athletes.

Renie and Philip Moss, NF1 patient advocates

The 2021 leadership conference brought together more than 60 student-athletes from Division I-chapter schools. Each year, the conference offers individuals the opportunity to learn more about rare diseases, empowering them to motivate their teammates to be advocates in their own communities. Uplifting Athletes chapters are run by current student-athletes that aspire to leverage the platform afforded to them to support the rare disease community through awareness and advocacy. Each young leader brings their own unique perspective and background, helping to shed light on rare diseases in a variety of ways and among diverse audiences. This year’s conference was made possible through the support of AstraZeneca.

Rob Long, Executive Director for Uplifting Athletes, was a punter at Syracuse University when he was faced with a rare brain cancer diagnosis. Rob won his battle against cancer and shifted his focus to advocating for rare diseases. Knowing first-hand how the power of sports can drive awareness, Rob recognizes the leadership and special role student-athletes play in the rare disease community.

“Most people have never heard of NF1, but it’s something that we need to make visible in our communities, and for our children,” said Renie Moss, NF1 patient advocate. “The Uplifting Athletes platform, and student-athletes specifically, can help make rare diseases, like NF1, matter. As Alabama natives and college football fans, this opportunity was especially cool for our family!” 

In addition to the annual Leadership Development Conference, Uplifting Athletes is steadfast on accelerating scientific advancements and reimagining how we fund, and support, research of rare diseases. As such, the Uplifting Athletes Young Investigator Draft partners with patient advocacy groups to provide seed grants to support rare disease researchers who are eager to dedicate their time and effort to develop new therapies for rare disease patients.

Uplifting Athletes is committed to leading the change in representation in medicine and medical research that we hope to see in the days, months, and years to come. The organization launched the Underrepresented Researchers in Medicine initiative within the Young Investigator Draft that focuses on underrepresented minority researchers to ensure health care is more diverse so our communities can be safer, healthier and stronger. AstraZeneca is proud to support Uplifting Athletes in celebrating and facilitating the next generation of rare disease researchers and increasing representation in health care.

Learn more about Uplifting Athletes on their website. More information about NF1 can be found at  NF1andPNinfo.com.