Running for Research ♥ Prader-Willi Syndrome (RFR) came into being in April of 2018. It was born from a conversation between Kelly Shad Guillou and Dr. Jennifer Miller. Kelly and her daughter Clementine, a child who lives with PWS, were visiting Dr. Miller at the University of Florida for a regular evaluation. Dr. Miller is one of the preeminent endocrinologists in the United States that specializes in the research and care of individuals living with PWS. During the visit, the conversation turned to the topic of PWS research and the many research opportunities that are available and potentially promising. Much lies undiscovered because of the perpetual lack of research funding. This is certainly the case for most syndromes and diseases but doubly so for those that are classified as “rare”. Prader-Willi Syndrome is a rare disease, occurring in only about one out of every 20 to 25 thousand live births. The question arose. How can the necessary research funding be obtained? How can Dr. Miller’s research ideas be supported?
The answer resulted in the creation of RFR. The old saying “if you want something done, do it yourself” couldn’t be more accurate. Who better to raise money dedicated to PWS research at UF than the very people who would most benefit from it? So with that in mind, the grassroots fundraising campaign began. A Facebook site was created, and with the help of a small group of dedicated PWS parents, word spread. The idea was very simple, this small group of parents, along with Dr. Miller, would meet at the Disney Marathon Week races in 2019 and use the event as a platform to raise money for the PWS Research Fund at UF.
The first year (2019), with the help of 13 individuals/families, RFR raised over $20,000. The money raised was used to fund a small study of the gut microbiome of adults living with PWS. Some interesting differences were discovered and the study results published.
The second year (2020), RFR grew to a bit larger group, with about 20 fundraising individuals/families. Again the Disney races were used as the fundraising event and this time, the total amount raised was $29,000. During this campaign, RFR was honored to have several persons with PWS join the team. One of these racers even completed the full marathon! The money from this event has been set aside for a study of hypoglycemia in PWS children in nutritional phase 2b and will begin in March of 2021.
The RFR 2021 campaign has been the most successful yet. The Disney races were one of 3 options offered to fundraisers, with the other options being a Virtual 5k and an in person Fun Run 5k to be held in Gainesville. The fundraising team consisted of 51 individuals/families from all over the world and contained runners/walkers of all abilities and ages. The pandemic forced RFR to convert to virtual only racing but this did nothing to dampen the enthusiasm of the team. The total raised for 2021 was $128,310, an incredible increase from the previous year! This money will be used to begin a long term study of the microbiome of pediatric individuals with PWS. The need for the study came to light because of the differences observed in the first gut microbiome study (funded by RFR in 2019). The money will also be used to investigate a new medication currently being trialed in the typical population for assistance with hair pulling and skin picking.
While we are very pleased with what RFR has accomplished in its short life, we know that we have just scratched the surface of what is necessary. PWS is such an all encompassing disorder that it touches every aspect of the lives of those it affects. Our mission is to create funding for research that will mitigate the symptoms of PWS. RFR is not focused on mouse model research that will provide a cure but rather research that will improve the lives of those living with PWS now. We focus on research that is guided by the needs of PWS individuals as identified by the clinical observations and expertise of Dr. Miller. Dr. Miller has one of the largest PWS patient bases in the world and as such, is uniquely qualified to assess these research needs.
RFR must continue to grow in order to meet the financial needs necessary to further PWS research. We are focused on the betterment of the lives of all person living with PWS. We believe that hope is ever present and the future holds much promise. With your support, we can make the promise a reality!
Kelly Shad Guillou