The first week of February is designated as Patient Recognition Week to acknowledge and appreciate the patient voice and why patient well-being and care should be at the forefront of all medical decisions. To commemorate this special week, we’re spotlighting the incredible patients that will be speaking at MassBio’s 2020 Rare Disease Day.
Lexi Pappas, Advocate, FSHD
Lexi hid her FSHD diagnosis for years, until she decided to launch a blog that detailed her day-to-day experiences as a patient, and later announced her diagnosis on Facebook. Making her diagnosis public freed her, in a sense, and allowed her to raise more awareness to funnel more research and funding to FSHD. In 2016, Lexi released a documentary about her family’s journey with FSHD, as her mother is also a FSHD patient, and their daily and long-term struggles. She has also spoken before the FDA and NIH, held fundraisers, and ingrained herself in the larger FSHD community while collaborating with multiple research organizations.
Seth Rothberg, Co-Founder, Our Odyssey
After witnessing his mother’s battle with Huntington’s Disease, Seth decided to go through genetic testing and, at 20 years old, discovered he tested positive for Huntington’s. He immediately decided to get more involved in the community and spearhead various fundraising, advocacy, and volunteering initiatives. Throughout his engagement, Seth shifted his focus to support young people because he knew how critical it was for patients to feel a sense of community throughout their diagnosis and have access to the proper resources to get them through the daily struggles. He founded Our Odyssey, a nonprofit dedicated to connecting young adults in the rare and chronic communities with social and emotional support.
Shauna Sperou, Advocate, Rothmund-Thomson Syndrome
Shauna, now 15 years old, was diagnosed with Rothmund-Thomson Syndrome when she was only one. Throughout her life, she has become intimately involved with the RTS Foundation and has advocated about the disease and raised money for research. In addition, she has participated in several studies with hopes of advancing research. With only 14 diagnoses of RTS per year, education has been a major pillar of Shauna and her mother’s advocacy.
To learn more about their stories and hear how these patients turned their diagnosis into their life’s work, register to attend Rare Disease Day on February 28th.