The Crucial Role Patients Play in Rare Disease Diagnoses


Doctors are taught “if you hear hoof beats, think horses, not zebras.” Horses are the common conditions — zebras are the rare diseases. This advice works most of the time, but for one in 10 people in the U.S., those hoof beats signify a zebra — a rare disease.

The Food and Drug Administration defines a disease as rare if it affects fewer than 200,000 Americans at any given time. There are approximately 7,000 known rare diseases, and these illnesses pose a range of challenges from diagnosis to treatment.

To raise awareness about rare diseases and their impact on patients’ lives, the European Organization for Rare Disorders created Rare Disease Day in 2008. Rare Disease Day takes place on the last day of February each year. Since 2009, the National Organization for Rare Disorders (NORD) has sponsored Rare Disease Day in the U.S.

The theme of Rare Disease Day 2016 is “Patient Voice,” with the slogan “Join us in making the voice of rare diseases heard.” Patients with rare diseases are experts in their conditions — by necessity — since medical professionals often lack knowledge about specific rare diseases.

Shire’s 2013 Rare Disease Impact Report found that physicians generally lack the time, resources, and background to properly identify patients with rare diseases. Among the physicians in the U.S. surveyed, 92 percent reported difficulties addressing the needs of patients with rare diseases during typical office visits. Additionally, the survey found that two-thirds of U.S. patients need to provide their health care professionals with details about their rare diseases. This highlights the crucial role the patient voice plays in the diagnosis and treatment of rare diseases.

In February 2004, Jen Melanson had surgery to remove her thyroid. The surgery irreparably damaged her parathyroid glands, leaving her with the rare disease hypoparathyroidism. After struggling with her disease for several years, Jen poured herself into researching ways to achieve a better quality of life. She participated in clinical trials at the National Institutes of Health and Massachusetts General Hospital, where she found a drug that significantly improved her health and wellbeing.

Jen did not stop there. When her study drug came before the FDA for approval, Jen traveled to Washington, D.C. to provide patient testimony in support of the drug, which was successfully approved. She joined Running for Rare Diseases, a program that matches runners with rare disease patients to raise awareness and funds for NORD’s Undiagnosed Diseases Network. Jen was matched with a runner named Amy, and they worked together to raise awareness for hypoparathyroidism. After Amy ran the 2015 Boston Marathon with Jen’s name on her shirt, Jen was inspired to run in a half marathon herself.

Jen became a powerful patient voice and successful rare disease advocate. But two-thirds of Americans affected by rare diseases are children. When they cannot advocate for themselves, their parents become their voices.

When Eliza O’Neill was diagnosed with Sanfilippo syndrome Type A, a deadly genetic disorder that currently has no cure, her family started the Cure Sanfilippo Foundation. To raise money for this nonprofit, her father launched the “Saving Eliza” campaign on GoFundMe; it is one of the most successful campaigns in GoFundMe history. The money from this campaign supports researchers at Nationwide Children’s Hospital in Columbus, Ohio, who have been working towards a cure for Sanfilippo syndrome for nearly two decades.

For Valerie Tharp Byers, the O’Neills’ awareness efforts provided the clue she needed to get the correct diagnosis for her son, Will. Though Will was diagnosed with autism, Valerie and her husband felt that there was another cause for Will’s developmental delays. When she saw the “Saving Eliza” campaign video, Valerie started crying, and felt like she was seeing her son. She took her suspicions to Will’s doctors, and genetic testing confirmed that Will has Sanfilippo syndrome Type B. Valerie reached out to the O’Neill family to learn more about Sanfilippo syndrome.

Matt Might and his wife Cristina spent four-and-a-half years searching for a diagnosis for their son, Bertrand. After finally identifying mutations to the NGLY1 gene as the cause of Bertrand’s health problems, Matt and Cristina were told that Bertrand was the only person in the world known to have these mutations. Matt took to the internet to find more patients. He wrote a lengthy blog post about Bertrand’s rollercoaster diagnostic journey. In just two months, he found two patients with the same mutations in Turkey. In about three years, dozens of patients were identified, thanks to Matt’s blog post.

These are just a few examples of the impact patient voices have in the rare disease community. On February 29, the rare disease community will raise its collective voice to bring awareness to health care professionals, lawmakers and the general public about rare diseases and their impact on patients’ lives. Follow the hashtag #RareDiseaseDay on social media to learn more, and discover how you can get involved.

The Mighty is asking the following: Tell us one thing your loved ones might not know about your experience with disability, disease or mental illness. What would you say to teach them? If you’d like to participate, please send a blog post to [email protected] Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.


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