#RAREis One
Rare diseases impact 400 million people worldwide and we know there is power in numbers – one story can make a difference.
#RAREis One aims to elevate the faces, voices and diverse perspective of those impacted by a rare disease from around the world.
Hear from storytellers who are navigating life with a rare disease, supporting a loved one and advocating for a change in the rare disease community – and the challenges they’ve encountered and overcome. Share your #RAREis One journey in your own words by submitting your story here.
Carol Brill
Location: Ireland
Organization: Usher Syndrome Ireland
Disease state: Usher Syndrome
Overview: Carol has lived with hearing loss since age 4 and was diagnosed with Retinitis Pigmentosa (RP) at 11. At 21, she was diagnosed with Usher Syndrome Type 2, later confirmed as Type 2a through genetic testing. After years of managing her condition independently and seeking better support, she co-founded Usher Syndrome Ireland with her friends and together, they aim to improve support for those affected by Usher syndrome, providing hope to newly diagnosed families and working toward a future where the disease is a thing of the past.
Louise O’Keefee
Location: Ireland
Organization: Rare Ireland
Disease state: All
Overview: Louise, co-founder of Rare Ireland, lives in Dublin with her three children. After her daughter Ella’s diagnosis of Neurofibromatosis Microdeletion Syndrome and a lack of available support, she connected with another rare mom online, and together they founded Rare Ireland. With a background in childcare, specializing in additional needs and challenging behaviors, Louise is dedicated to supporting families post-diagnosis and raising awareness for Rare Ireland’s work.
Mara Gervais
Location: Canada
Organization: SHINE Syndrome Foundation
Disease state: SHINE Syndrome (DLG4-related synaptopathy)
Overview: After a long diagnostic odyssey, Mara’s son was diagnosed with SHINE Syndrome, also known as DLG4-related synaptopathy, an ultra-rare neurodevelopmental disorder. With limited research and resources, she co-founded the SHINE Syndrome Foundation to improve the quality of life for children and families impacted by this disease through supporting collaborative research among international medical professionals, nurturing a family community, and raising worldwide awareness. Watch as Mara shares her story and how the #RAREis Global Advocate Grant has supported her mission.
Deena Chisholm
Location: Delaware
Organization: TANGO2 Foundation
Disease state: TANGO2
Overview: Being a rare mom herself, Deena knows first-hand what families go through when receiving a diagnosis and has made it her mission to support those who are impacted by rare diseases. As Director of Research Engagement at the TANGO2 Foundation, she works to support those who are impacted by this rare and genetic disease. Hear her hopes and goals for the future and how the #RAREis Global Advocate Grant is supporting her mission.
Megan Loden and Chris Coates
Location: Arizona
Organization: The Hypertrophic Olivary Degeneration Association
Disease state: Hypertrophic Olivary Degeneration
Overview: Megan and Chris both met after being impacted by the same rare disease, Hypertrophic Olivary Degeneration (HOD), a very rare brain disease. After learning there was no support and resources for this community, Chris started her own advocacy organization to address the unmet needs. In this video, learn how they are being a lifeline to the HOD community.
Trena Anderson
Location: Arizona
Disease state: Granulomatosis with polyangiitis (GPA)
Overview: In 2015, Trena decided to seek medical care for what felt like a really bad cold or flu. After seeing a handful of specialists she was eventually diagnosed with Granulomatosis with polyangiitis (GPA), a form of ANCA-associated vasculitis. She credits her family and her faith for keeping her hopeful while navigating life with this rare disease, noting that “there is always something to be thankful for.” Trena now dedicates her time to helping others with ANCA-associated vasculitis through her work with the Vasculitis Foundation.
Souad Mazari
Location: France
Organization: NMO France
Disease State: Neuromyelitis Optica Spectrum Disorder (NMOSD)
Overview: Souad Mazari started NMO France after being diagnosed with a devastating rare autoimmune disease that caused her to lose sight in both eyes, leaving her suddenly in darkness. Watch as Souad shares her story about living with NMOSD and a visual impairment. She also offers insight on how she advocates for herself and others, and discusses the importance of shining light on this rare disease, so that others can avoid diagnostic delays and receive proper treatment as soon as possible.
Mary McGowan
Location: Illinois, USA
Organization: Foundation for Sarcoidosis Research
Disease State: Sarcoidosis
Overview: With over 35 years of nonprofit leadership and management experience and passion to speak up for underserved populations, Mary has dedicated her life to building pathways, advancing clinical trial equity, working towards better therapies, and eventually getting a cure. Watch as Mary shares her hopes and commitment for the rare disease community.
Leigh-Ana Rossitto
Location: California, USA
Disease State: Undiagnosed
Overview: After being tested and evaluated for various diseases, Leigh-Ana spent a large portion of her life in and out of the hospital looking for answers. While she remains undiagnosed, she is pursuing her doctorate focusing on biomedical sciences. Watch as Leigh-Ana shares her goals of uniting the rare disease community through science.
Dr. Harsha Rajasimha
Location: India
Organization: Indo US Organization for Rare Diseases
Disease State: All
Overview: After dedicating his life to researching, analyzing and discovering novel rare and common mutations associated with macular degeneration, Dr. Harsha Rajasimha quickly realized the sufferings and pain that over 400 million people and families with rare diseases deal with worldwide. And when he became the father of a child with Edwards Syndrome, a rare genetic disease, his eyes were opened to the other side of rare disease research and advocacy. Hear how he has re-dedicated his life to supporting the global rare disease community.
Luisa Leal
Location: Mexico
Organization: The Akari Foundation
Disease State: All rare diseases, specializing in Duchenne Muscular Dystrophy (DMD)
Overview: After migrating to the United States, and caring for her two daughters, Luisa experienced firsthand the challenges of navigating and accessing the medical system with a language barrier. When she later met the twin sons of an ex-partner, she discovered how difficult it was for their family to find information about DMD in Spanish and felt compelled to start The Akari Foundation. Watch as Luisa shares her determination to use her bilingual ability, health system experience and drive to address the unmet needs of the Hispanic rare disease community.
Sarita Edwards
Location: Alabama, USA
Organization: The E.WE Foundation
Disease State: All rare diseases, specializing in Edwards Syndrome (Trisomy 18)
Overview: With more than 20 years of professional experience in health systems leadership, Sarita Edwards started the E.WE Foundation after her son, Elijah, was diagnosed with a rare genetic disease, Edwards Syndrome. Watch Sarita’s transformation from 2022 to 2023 as she shares how she has expanded and dedicated her organization to ensuring patient communities have equitable access to quality healthcare, mental health, health and financial literacy and disease education, and of course, to see how Elijah is doing today.