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Feb. 1, 2022

TOPIC: Patients & Members, Patient Stories, Rare Disease Day

Rare Disease Day: Yara’s Story

Posted by Maia Craig
A photo of Yara

Leading up to #RareDiseaseDay on February 28, NORD is sharing stories from patients and caregivers impacted by rare disease. This week, we are sharing Yara’s journey with Jordan’s Syndrome and her family’s plan to raise awareness this #RareDiseaseDay. If you want to share your rare story in honor of Rare Disease Day, visit NORD’s website. 

Our daughter Yara was diagnosed six years ago with a rare disease called Jordan’s Syndrome, at the age of two. Since birth, Yara has had to work hard to achieve what comes naturally to most. Raising a child is hard but raising a child with a rare disease that not many have heard of adds a new level of complexity. We find ourselves playing a variety of roles in her life which sometimes takes away from the pleasure of just being her parent. Yara’s experiences have shaped our lives in so many ways. After the cloudiness of a diagnosis and the fear of the unknown, we surfaced as better individuals with compassion, empathy, and a drive to support her and effect positive change in the rare disease space. My personal dreams shifted to include a cause I didn’t know existed. 

Living with a rare disease is isolating. Rare Disease Day is an opportunity to come together and find the strength in having a common voice. The rare disease community often lacks the interventions, support, and treatments required. Coming together and raising awareness is the start to make a well needed change in the rare disease community. Through Rare Disease Day, we can shed light on rare diseases and create a space to celebrate all differences. 

In the extra rare disease space, experts are just as rare. In many cases we, the parents, become experts. We are the medical experts, the therapists, and the teachers that hold all the answers on how to manage this rare disease. While no one will ever know our child as much as we do, it is uneasy knowing that we are it. Most decisions we must make for their care are unguided and, in some cases, arbitrary. Every decent parent worries about how their decisions might impact their child in the long term but for us, the stakes are high, and the risks are unknown. That’s enough to keep you up at night, researching, reading, self-educating, making pros and cons lists, and just hoping for the best. 

To my family and I, health equity is when every patient living with a rare disease has the same access to the medical care they require. Reality is far from this starting at the diagnosis process, access to interventions, and drive for affordable treatment. 

On #RareDiseaseDay, we will be working on rallying our community and our children’s schools to raise awareness. 

To learn more or get involved with Rare Disease Day, please visit NORD’s Rare Disease Day website.