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 was set aside for a study of hypoglycemia in
PWS children in nutritional phase 2b and began in May of 2022. This study is complete.
The RFR 2021 campaign built on the previous year’s success. 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 was set aside 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 recruitment for this project has been
completed and the study is underway.
The 2022 campaign marked a departure from previous years in that the Disney races
were no longer used as a fundraising event. Instead, team members were offered a
series of virtual races and also an in person option. The lessening of the pandemic
finally allowed the races to be held in Gainesville on March 5, 2022. The event was well
attended and everyone involved enjoyed both the races and the opportunity to interact
as a community. Between both the in person option and the virtual races, the total
number of fundraising teams was 85. To our astonishment, this dedicated group of
fundraisers raised $661,047! This money has been earmarked for a critical and very
promising study, the Early Intervention DCCR Study. The purpose of this study is to
determine if the use of DCCR in young children can delay, mitigate or even prevent the
development of hyperphagia. This study will begin recruiting in the early fall 2023.
In 2023, RFR made the decision to change course and fundraise not for a research project, but rather for the development of a new clinical outcome assessment tool. This change was the result of 2 events that occurred back-to-back within our community. Two promising new PWS medications were presented to the FDA and failed to gain an NDA (New Drug Approval). This was very troubling to Dr. Miller. After reviewing both situations, she came to the conclusion that if our community didn’t create a new and better assessment tool to gather and present research data to the FDA, we would continue to fail to get new drug approvals. So, a decision was made to fund a disease map of PWS and create the needed new tool. RFR partnered with Trend Community and the campaign began!
As in previous years, fundraisers had the option of running either a virtual race or an in-person race. The in-person race was held in Gainesville at the UF Foundation on March 4,2023. The race was attended by over 40 fundraising teams. In addition, RFR was honored to have 20 virtual fundraising teams running races all over the US and even in Canada. By the close of the 2023 campaign, RFR had raised over $257,369 for the Clinical Outcomes Assessment (COA) project. Work on the COA began immediately following the conclusion of the campaign. It is ongoing and RFR hopes to announce a new assessment tool by the end of 2023.
Through its first five years, RFR has raised over $1,095,000 for the UF PWS Research
Fund. This money has made possible 5 research projects, all in various stages of
completion. None of this success would have been possible without the tireless effort
and complete dedication of our amazing community of volunteers, team members,
donors and the University of Florida staff and physicians.
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 persons 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
