Explaining a complex rare disease is difficult for anyone—now imagine you’re a parent trying to explain it to a young child who has cystinosis.
Meet Ruby, a young female character created by Horizon Therapeutics to explain the rare disease in easy-to-understand terms.
Ruby hunts crystals—cystine crystals inside the human body, that is. Born as the lead character in an educational book for kids last year, Ruby is now about to star in her own movie.
The seven-minute film “The Quest for Crystals” debuts Friday on Horizon’s Cystinosis United Facebook page. Viewers can tune in at 7:30 p.m. ET to watch the young adventurer on her travels as she explains cystinosis simply and searches the body for the hidden cystine crystals.
Classic infantile cystinosis is the most common form of the disease, with 95% of patients having this type. Symptoms typically begin the first year after a child is born.
“We know it’s hard to explain a chronic and complex disease without also scaring your child,” Amanda Phraner, Horizon’s director of product communications, said. “You want them to understand why they need to take the medication and what it is they’re living with, but you don’t want to frighten them—because they are still little.”
The Friday night movie premiere follows a week of activities created by Horizon for cystinosis patients, families and caregivers. Horizon asked people to sign up online, then sent out activity boxes for the week.
Every evening a different activity brought the families and broader community together. Activities included craft night building foam rockets like the one Ruby uses to travel in and a trivia night with all rare questions such as: what is the most rare M&M color? (brown); or, what day is Rare Disease Day? (Feb. 29). The week also included an educational night with a question-and-answer panel of advocacy partners to talk about available resources for the community.
Thirty-two people signed up for the week of events, and, while that sounds like a small number, “in the rare disease community we call that huge,” Phraner said. Only about 500 to 600 people in the U.S. have the rare disease.
“If we only sent out one box to one family and that made an impact for that one family, we would be thrilled,” she added. “We know that this is extremely isolating.”
Horizon’s cystine-depleting therapy med Procysbi was first approved to treat cystinosis in 2013 in those six years and older, and in 2020, the approval was expanded to those as young as one year old.