By Charlena Wynn
Patient and familial support, patient advocacy, and education are among the most essential needs for families and friends of those with rare diseases as they work to find answers and aid their loved ones. Rare diseases are often less researched, funded, and publicized, yet the complexity of such diseases requires these elements for more positive. Diseases like Hutchinson-Gilford Progeria, which is a rare, fatal genetic condition that accelerates aging in children, was underfunded and understudied until parents Dr. Leslie Gordon and Dr. Scott Berns launched Progeria Research Foundation (PRF) in 1999 after their son Sam had been diagnosed the previous summer. Gordon and Berns saw the lack of progress and filled the void by putting progeria research and children with progeria at the forefront of scientific efforts.
Progeria Research Foundation works to create a steadfast mission focused on organization for the global community. PRF is the first of its kind and continues as the only organization in the world solely dedicated to the cause, treatments, and cure for progeria. Because the disease is rapidly progressive, disseminating information to caregivers is critical to supporting patients and advocating on their behalf.
Working with the patient population is key to PRF’s success. Gordon and Berns established the International Progeria Registry and Translation programs which help the Foundation and others find children with progeria, assess their needs, and help them. The PRF Medical Grant Program, PRF Cell and Tissue Bank, and other organizations were created to response to the lack of advocacy, research, funding, and education in the area of progeria and related diseases.
PRF’s International Progeria Registry “assures rapid distribution of new information to both parents and the children’s physicians that may benefit the children via email, phone, and social media with interpreters and translations when needed,” says Audrey Gordon, Executive Director. There are 300-350 children in the world living with progeria and the Registry has identified children in 48 countries. Children can be enrolled in the first drug trial in 6 months and as the Registry expands, more children are identified and aided. Quick clinical trial enrollment and translation services are just some of the ways PRF works to carry out their mission.
PRF has been critical in the movement towards finding causes and a cure for progeria. Within 15 years of its creation, the Foundation discovered the progeria gene in 2003, developed the first ever clinical drug trials in 2007, and discovered a farnesyltransferase inhibitor (FTI) for the first ever treatment in 2012. They have been hailed as a model for disease-research organizations due to their transnational approach, patient driven mission, and rapid response to the disease and its implications in better understanding heart and other age related diseases. “The comprehensive network of research-related programs and services foster communication with the children and their families, scientists, clinicians, academic institutions, pharmaceutical companies, volunteers and the general public.”
Due to its dedication, PRF has increased the number of progeria related publications, increased identification of children with progeria, and increased the number of cell lines distributed to research teams. The 9 member staff and countless volunteers from lawyers, accountants, graphic designers and public relations representatives ensure less is spent on administrative costs and more on awareness. As awareness increases, research and funding increase and “progress towards a cure is attained”.
Due to the lack of opportunity for scientists to gather and brainstorm ideas and share data, PRF created an international scientific conference to find the progeria gene mutation. Scientific workshops on progeria have brought together scientists and clinicians from all over the world to share and foster collaboration.
For PRF, awareness and education are critical to eliminating progeria. With each new program, PRF has gained partnerships to support children with progeria and better understand the biology of the disease. Gordon hopes that others take similar actions for rare disease populations, filling in the void where medical research and advocacy are lacking. Drs. Gordon and Berns used the lack of progress in progeria research and advocacy to fuel their mission to carry out the goals of Progeria Research Foundation. PRF’s comprehensive programming, transnational collaborations, and rapid education supported by mission-focused goals center the patients in its programming and services which have helped advance progeria research. Clear and focused missions and collaborative work can be extremely beneficial to nonprofits working with vulnerable populations such as rare diseases. Including the patient in the mission and at the forefront of the cause can fill in the gaps where needed, raise awareness and advocate on patients’ and families’ behalf, and work towards the disappearance of a disease.
The Progeria Research Foundation was founded in 1999 in response to the lack of progress being made to help children with Progeria. They aim to discover treatments and the cure for Progeria and its aging-related disorders through research-related programs and services.
Charlena Wynn is currently pursuing her Master’s of Arts in Liberal Studies at NC State University with a concentration in examining the construction of Blackness in contemporary United States museums.