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Oct. 5, 2015

TOPIC: Featured News, Get Involved, Research

The Undiagnosed: Orphans of the Rare Disease Community

Posted by Paul Melmeyer

While the approximately 7,000 known rare diseases run the full spectrum of symptoms and experience, rare disease patients encounter many common obstacles. Rare patients face incredible difficulty finding safe and effective treatments, and even if such treatments exist, a multitude of reimbursement difficulties await.  Rare disease patients often wait years for an accurate diagnosis, as the medical community may know little to nothing about the disease.

The difficulties of living with a rare disease or caring for a loved one with a rare disease are severe and extensive. But all of these problems are magnified within a particular community that is often marginalized and forgotten: the undiagnosed.

Undiagnosed patients are by their very definition a population of one. Without a community of patients, caregivers, and interested physicians and researchers, undiagnosed patients must brave experimental therapies, never truly knowing what benefits or dangers might accompany the therapy. Undiagnosed patients face a stumped medical community, a befuddled research community, and often an entirely unreasonable amount of skepticism on whether or not they are truly experiencing the symptoms they describe.

Thankfully, there are very dedicated individuals working together to find diagnoses for these marginalized individuals. This past Rare Disease Day in Salt Lake City, I had the pleasure of meeting several individuals dedicated to the undiagnosed cause.

Gina Szajnuk and her husband, Justin, have launched the Rare and Undiagnosed Network (RUN), an effort to bring together patients, caregivers, doctors, and researchers to make whole genome sequencing more accessible to undiagnosed patients looking for an answer.

Meanwhile, Nicholas Miller and Crystal Shearman are using their own unique talents as filmmakers to direct and produce Undiagnosed – Medical Refugees, a documentary that gives us a glimpse into the world of undiagnosed patients and their loved ones.

More recently, I had the pleasure of traveling to Budapest, Hungary to meet two truly outstanding individuals. Helene and Mikk Cederroth have created the Wilhelm Foundation in honor of their three children, Wilhelm, Emma, and Hugo, who passed away from an undiagnosed, degenerative brain disease. Helene and Mikk have now dedicated their energy to bringing the undiagnosed community together to tackle the many challenges faced by undiagnosed patients.

Undiagnosed Blog

In Budapest, I participated in the Second Annual Rare and Undiagnosed Diseases Conference, a joint venture between the Wilhelm Foundation and the National Institutes of Health Undiagnosed Diseases Program (UDP). Led by Dr. William Gahl, the UDP seeks to diagnose the most puzzling undiagnosed cases. One of the reasons Dr. Gahl and the UDP has been successful is their partnerships with medical centers around the nation, officially operating seven satellite UDP centers across the country.  The Wilhelm Foundation, the UDP, and the physicians, researchers, and patient organizations who gathered in Budapest aim to expand this collaborative environment into Europe and eventually across the globe.

What has become increasingly clear to me is the compassion and altruism that defines the undiagnosed community. Undiagnosed patients are in many ways a community of one. But the common struggle of ending the diagnostic odyssey for the millions of individuals across the world battling this incredible uncertainty has led to some truly inspiring collaborative efforts. If you or a loved one is currently on this odyssey, I encourage you to reach out to those who have walked this path, or are still walking it today. Undiagnosed diseases are lonely, but there are many who want to help.

If you or someone you care for is struggling to find a medical diagnosis, we invite you to share your story with NORD.  NORD supports undiagnosed patients through our Policy and Research programs and in our Educational programs for medical professionals and medical students.  You can help by making a donation to NORD to support our mission and to our Undiagnosed Patient Assistance Program, which provides funds to pay for standard diagnostic testing for people with mysterious, undiagnosed medical conditions who have applied to the National Institutes of Health (NIH) Undiagnosed Diseases Program. To make a donation to the Undiagnosed Patient Assistance Program, please contact Ahleum Morris at amorris@rarediseases.org

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