Rare Disease Week 2022
Rare Disease Week is the week that leads up to Rare Disease Day, which is recognized on the last day of February. This year, we are bringing special attention to these events with a series of patient stories, with one being released each day from Monday the 21st to Friday the 25th. At Patient Worthy, our main focus is on sharing the stories of rare disease patients. With this initiative, we are making this more of a priority than ever before.
Our first story for the week comes from our friends at the FSHD Society. Click here for a link to the story on their website.
Teen with FSHD is in top 40 of Science Talent Search
Our very own Heloise Hoffmann, leader of the Southwest Florida chapter and Walk & Roll, is a science rock star! The Society for Science named her a top 40 finalist in the Regeneron Science Talent Search, the nation’s oldest and most prestigious science and math competition for high school seniors. The finalists were chosen from a pool of over 1,800 highly qualified entrants, all of whom completed an original research project and extensive application process. Science Talent Search alumni include recipients of top science awards, including 13 Nobel laureates, 11 National Medals of Science, 6 Breakthrough Prizes, 22 MacArthur Foundation fellows, and 2 Fields Medals, as well as the founders of many important science-based companies, including Regeneron.
Heloise’s project, which she undertook for her junior-year AP science course, investigated sleep quality, daytime sleepiness, and their relationship to patients’ health and quality of life. To design her study, she consulted three advisors: Jeffrey Statland and Suzanne Stevens of the University of Kansas, and Victor Malo-Juvera or the University of North Carolina Wilmington. Using validated survey instruments, she created a questionnaire which was emailed to FSHD Society members. Some 690 people completed the survey.
Statistical analysis of the data found that individuals with FSHD experience significantly reduced sleep quality but typical daytime sleepiness. Moreover, pain had a significant correlation with reduced sleep quality. She concluded, “sleep quality should be monitored even if patients do not feel drowsy during the day. Physicians should place greater emphasis on sleep in care. Pain significantly impacts sleep quality, so effective pain treatment should be implemented to improve sleep quality. The physiological effects of pain during sleep should also be further investigated.”
Heloise presented her findings at the 2021 International Research Congress on FSHD (view poster) and on an FSHD University webinar (view video). “The FSHD Society really helped her make the project possible, through use of the registry and by connecting her to researchers,” said Statland.
“I’m so thankful to all members of the FSHD army who completed my sleep survey last spring,” Heloise said. “Your involvement in this study helped uncover valuable links between FSHD, sleep, and pain and helped launch me into a passion for scientific research with a focus on curing FSHD.”
“I am so honored to have been named a Top 40 Finalist in the Regeneron Science Talent Search,” she added. “This is not only a chance to spread awareness about FSHD to a broad public, but it is also an opportunity to pique the interest of pharmaceutical companies in FSHD. This would not have been possible without the engaged spirit of our FSHD community!”
What happens next?
Finalists will participate in a week-long competition from March 9-16, 2022, where they will undergo a rigorous judging process and compete for more than $1.8 million in awards. They will also have an opportunity to interact with leading scientists and share their research during a virtual “Public Day” event on March 13.
The finalists are each awarded at least $25,000, and the top 10 awards range from $40,000 to $250,000. The top 10 Regeneron Science Talent Search 2022 winners will be announced during a live-streamed awards ceremony on March 15. For updates, visit their website.
Stay tuned!
