Did you know there are as many as 7,000 rare diseases impacting the lives of ~25–30 million Americans, many of them children?1 To commemorate Rare Disease Day 2018 and raise awareness of these diseases, we encourage patients to share their stories, build communities, and help advance research for change.
One out of every 10 Americans is affected by a rare disease—and about half of those people are children. Yet, only slightly more than five percent of these approximately 7,000 diseases have an FDA approved drug treatment.1
Inherited retinal diseases (IRDs) are eye disorders caused by a genetic mutation, and while all IRDs are rare, some can be exceedingly so. Cone-rod retinal dystrophy, for example, impacts only one person in 40,000.2 In the face of such small numbers, patients and their families can often feel isolated, misunderstood, and unsupported.
But they are not alone, and neither are you. There are many communities, aSharedVision among them, dedicated to supporting patients with rare diseases, advocating for greater awareness, and advancing research in the hopes of new treatment options. But it hasn’t always been that way.
Rare Disease Day: A decade of change
Before the Internet, isolation posed a significant obstacle for patients and families living with a rare disease. Local communities may not have been fully equipped to support these families, and geographic distances could put such resources well out of reach. That changed in the late 2000s with the growing adoption of digital platforms. Thanks to advances in communication through social media, email, and chat, people with rare diseases could now easily connect with advocacy groups and other families facing similar health challenges. Suddenly, rare didn’t mean alone. Anyone could reach out to the world.
And the world answered. On February 29, 2008, the European Rare Disease Organization (EURORDIS) and the Council of National Alliances introduced the world to Rare Disease Day. With the rally call, “A rare day for very special people,” the campaign aimed to raise awareness among the public, researchers, and policy makers about rare diseases and how they influence the lives of millions of people worldwide. The National Organization for Rare Disorders (NORD) became a partner the next year and brought the campaign stateside. Since then, Rare Disease Day events have been celebrated on the last day of February in countries all over the world.
Show your rare 2018
On Rare Disease Day 2018, NORD encourages you to “Show your rare. Show you care.” The focus this year is again on research and its role in providing answers and solutions. The campaign will also highlight the ways patients advance research through their participation. Only through patient involvement can researchers better understand the needs of a rare disease community and target their research accordingly. In turn, patients who are involved become empowered, valued members of the community.
Genetic testing is an excellent example of how patient involvement can further research efforts. Patients who receive genetic testing may help researchers gather data to improve future research and advance the development of potential treatment options. For their involvement, patients may gain information about their own genetic mutation(s), which is essential to working with a doctor to decide the best course of action in managing their disease. Caregivers and family members can also use this knowledge to better support the patient and others living with that disease.
Bringing voices together
This Rare Disease Day, we encourage the aSharedVision.com community to make their voices heard. The more people who understand rare diseases, the more support that can be provided. The more stories shared, the larger the community will grow. The louder the community’s voice, the greater the surge for research and policy for positive change.
To advocate for change, you can participate in a Rare Disease Day event near you. If an event is not happening in your area, the campaign’s website offers plenty of suggestions for how to raise awareness online and in your community.3
You can also share the story of someone affected by a rare disease with your friends and family on social media. Since 2016, aSharedVision.com has been connecting people to the IRD community through our Community Stories page, and we have been honored to present the inspirational lives of people like:
Sofia, 13, who pursued her love of ballet despite being born with Leber congenital amaurosis and inspired her mother to co-found the non-profit Sofia Sees Hope.
Victoria Romano, who found her passion teaching students with visual impairments at the Overbrook School for the Blind.
Josh Bennett, who didn’t let legal blindness stop him from being a competitive cyclist and Muay Thai boxing instructor.
Feel free to share these stories and others like them on social media this Rare Disease Day, and if you are a patient or caregiver from the IRD community, please consider sharing your story with us.
1 FAQs about rare diseases. Retrieved February 7, 2018, from https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
2 Hamel, CP. Cone rod dystrophies. (2007). Retrieved January 21, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1808442/
3 Rare Disease Day Information Pack. Retrieved January 21, 2018, from http://img.rarediseaseday.org.s3.amazonaws.com/2018/infopack-2018.pdf