The EveryLife Foundation for Rare Diseases today announced the awardees of its What’s Your Story? online rare disease story contest. The contest invited anyone touched by rare disease to share their experiences on a wide range of issues impacting the rare disease community. Topics ranged from difficulty getting a diagnosis, to challenges gaining access to therapies, discrimination in the workplace, and more. The contest was held from November 2021 through the end of Rare Disease Week on Capitol Hill on March 2nd, 2022.
Three awardees were selected out of more than 100 participating storytellers:
- Alexis Levine, Boston, MA. Before her younger brother Barry died in 2015, Alexis made him a promise – that she would find out what robbed him of his life. Four years later, working as a clinical research specialist at Boston Children’s Hospital, she did. By having her brother’s whole exome sequenced, Barry was diagnosed posthumously as the 106th person in the world to be diagnosed with Jordan’s Syndrome, or a mutation in the PPP2R5D gene. Alexis, now 26, is determined to find a cure for the syndrome within her lifetime and is entering a masters program at NY Medical College this fall to help do just that. Learn more about Alexis’ story.
- Joseph Heisler, Toms River, NJ. In December 1989, Joseph’s father, who was 33 years old at the time, began experiencing migraines found to be caused by a tumor. That same month, Joseph’s younger brother, then age four, developed a slipping eye, also caused by a tumor. An ophthalmologist connected the father and son cases to von Hippel Lindau disease (vHL). Incredibly, the doctor learned about vHL disease just three weeks prior having attended a conference on rare disease. Although asymptomatic, Joseph (then age nine) was tested and diagnosed with the same disease. Since that time, Joseph has received regular surveillance for tumor growth, undergoing multiple cryotherapies, laser procedures, radiation therapies, and surgeries. With tumors detected and removed near both of his eyes, Joseph credits his early diagnosis and intervention with saving his eyesight. Now 41, Joseph finds purpose in serving as an advocate and Spanish language translator for the VHL Alliance, an organization originally known as the VHL Foundation and founded by Joseph’s mother shortly after his diagnosis. Joseph recently launched a podcast called Very Heroic Living. Learn more about Joseph’s story.
- Shundra Wooten, Decatur, GA. Nearly a decade ago, Shundra noticed she was walking differently and losing her balance from time to time – just like one of her sisters used to do – her sister who died in 2004 from complications of a form of ataxia. A genetic test confirmed Shundra’s diagnosis of spinocerebellar ataxia (SCA3). At age 46, Shundra was forced into retirement from a 25-year career in education due to the progression of the disease. A marching band member in high school, Shundra now relies on a walker to move around safely. Since her diagnosis, complications of ataxia have taken another of Shundra’s sisters as well as a nephew. Now 52, Shundra remains optimistic and says that every day that she wakes up gives her new hope. She shares this positive outlook on a Facebook support group for people living with ataxia. Shundra has engaged in EveryLife’s events for more than two years, advocating for improved access to healthcare coverage. Learn more about Shundra’s story.
Donations of $1,500 were made in each of the contest awardees’ names to the patient advocacy organization of their choice, including Jordan’s Guardian Angels, the VHL Alliance, and the National Ataxia Foundation.
What’s Your Story? is a program intended to help build a bank of stories to help those within and adjacent to the rare disease community understand what it is like to live with a rare disease diagnosis, as a patient, caregiver, parent, spouse or other.
“Having a story bank for the community, by the community, serves two important purposes,” explained Britta Dornan, senior director of communications and marketing at the EveryLife Foundation. “First, it connects people with rare diseases and strengthens a sense of community. These stories are also an effective form of advocacy to inform and inspire policy makers, funders and the agencies overseeing clinical trials and therapy development. No one makes the case for urgent attention to policies impacting the rare disease community better than those who live with the consequences of inaction every day.”
Although this year’s award program has closed, the What’s Your Story? online story bank will remain open for advocates of any age to submit their story to share with the rare disease community. Stories submitted will help advance rare disease policy priorities through ongoing advocacy efforts to advance the equitable development of and access to lifesaving diagnoses, treatments, and cures. Submissions may be shared during meetings with Members of Congress or with the public via social media, online or in the press. Those under the age of 18 who wish to submit their story are asked to provide parent or guardian contact information to confirm consent.
