An unusual form of brain cancer ended Rob Long’s professional football career before it began. But the former Syracuse University star punter has become a champion in the fight against rare diseases of all kinds.
Long is executive director of Uplifting Athletes, the Doylestown nonprofit that leverages the power of sports in order to raise awareness about, and nurture development of treatments for, uncommon genetic and other disorders that don’t often make headlines.
Last month, a decade after Long wasn’t chosen during the 2011 NFL draft — despite having undergone successful surgery for grade III anaplastic astrocytoma — he hosted the Uplifting Athletes Young Investigator Draft. The event used the theatrical trappings of the NFL draft to announce the award of $140,000 in grants to a diverse group of seven rare-disease researchers.
“The Young Investigator Draft actually is one of the first projects I took on,” said Long, 32, who joined Uplifting Athletes in 2016 and was named executive director two years later. “It’s been amazing to see it grow.”
Due to the pandemic, the 2021 draft — sponsored by CSL Behring, the King of Prussia biotechnology firm — was held live on multiple online platforms March 30. The recipients of the $20,000 grants were chosen from among two dozen applicants.
Since it was founded by Penn State University football player Scott Shirley in 2003, Uplifting Athletes has partnered with players from the Eagles and other NFL teams, as well as college chapters at Penn State, Syracuse, and campuses nationwide, to raise $5 million overall.
The young-investigator grants are unrestricted and will support efforts to develop treatments or cures for diseases such as DDX3X syndrome, a condition causing intellectual disabilities; Inherited Retinal Degeneration, which can lead to blindness; and dyskeratosis congenita, an inherited and degenerative disease that involves bone marrow failure.
Dr. Sarah Sheppard, a physician scientist and pediatric geneticist at the Children’s Hospital of Philadelphia, was among the recipients. The grant will support her work in the laboratory of Dr. Hakon Hakonarson, founder of CHOP’s Center for Applied Genomics.
“I grew up [wanting] to be a doctor,” said Sheppard, whose Rhode Island grandparents were a married pair of family physicians. “Everything starts with the patients and wanting to help them.”
Sheppard, a 36-year-old Philadelphia resident, studies the underlying genetics of complex lymphatic anomalies. “The lymphatic system is sort of like the plumbing of the body,” she said, adding that her goal is “to translate the findings in the lab into actual therapies” for patients.
Rare diseases generally don’t attract the public attention and big dollars of more common ailments. The conditions can be difficult to diagnose and about 95% of them do not have an FDA-approved treatment available.
Nonetheless, Uplifting Athletes and other organizations estimate that 7,000 rare conditions impact the lives of perhaps 30 million Americans. The genetics and biology of such diseases often have connections or similarities to more common ailments; examples include rare autoinflammatory conditions such as cryopyrin-associated periodic syndrome, which have shed light on better known autoimmune diseases and on the nature of inflammation itself.
Meanwhile, the Orphan Drug Act of 1983 has encouraged development of pharmaceutical treatments for diseases that affect small numbers of patients. And groups such as the National Organization for Rare Disorders (NORD) have emerged to make Americans more aware of conditions, such as Tourette syndrome and Huntington’s Disease.
“There’s so much we can learn from rare disease research,” said Long, whom NORD recently honored with its 2021 Rare Impact Award. “We can be part of the solution.”
Noting that rare diseases affect every racial and demographic group, Long said his organization has a new initiative to encourage Black and other researchers of color through Historically Black Colleges and Universities as well as the National Institute of Health’s National Institute of Minority Health and Health Disparities.
“Rare diseases don’t discriminate,” said Long. “We want to recognize the needs of everyone in the rare disease community. Patients need doctors and researchers who look like them.”
Patients also need encouraging news. Bernadette Scarduzio, who has an inherited peripheral nervous system disorder called Charcot-Marie-Tooth disease, was thrilled to learn that Timothy Hines, a postdoctoral associate at Maine’s Jackson Laboratory, won a Young Investigator grant to support his CMT research.
“It’s my first grant, and I’m stoked,” said Hines, 30, adding he’s grateful for funding that “will help me understand the cell biology behind the disease.”
Hines, who moved to Bar Harbor from South Carolina for the Jackson Labs position, explained that CMT is caused by the degeneration of motor neurons in the spinal cord. The cellular process involved in that degeneration could be a target” for therapeutic intervention, he added.
Said Scarduzio, a 41-year-old Upper Darby resident who was diagnosed with CMT when she was 8: “I went so long in my life with CMT in the shadows. Nothing much going on until recently.
“I know Uplifting Athletes, and I’ve met Rob, who’s awesome. To know they are donating toward treatment for the disease, I feel grateful,” said Scarduzio, a social media coordinator for the Hereditary Neuropathy Foundation. “It gives me hope for the future.”
Long knows a thing or two about hope — and about the value of research.
When the Downingtown native was diagnosed in December 2010, his future seemed bleak. Life expectancy for patients like him was generally three years; perhaps 15% of those with such tumors lived beyond five years. He was just 22 and his life had been all about football.
“When I was in that exam room 10 years and four months ago, and I received that diagnosis, I was lucky there was [treatment] they could try,” said Long. “They could do that because time, money, and effort had been spent.”
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He now lives in Chester County with his wife, Irie. His MRI brain scans have remained clean since he underwent surgery at Thomas Jefferson University Hospital in early 2011.
”I do not take any day for granted,” said Long. “Every day I am able to get up and dress myself and go to work is a great day.”
Without the commitment of those who researched the rare cancer that easily could have killed him a decade ago, “I wouldn’t be able to do this,” he said. “I wouldn’t be here.
“It’s been 10 years since my first clean MRI,” he said. “I feel incredibly blessed.”