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Are You Living with an Undiagnosed Disease?

Are you or a loved one living with an undiagnosed disease? You’re not alone: thousands of Americans—maybe more—go undiagnosed every year, and millions are living with rare diseases. It can take up to 5 years for someone living with a rare disease to get diagnosed, and it takes more than 5 years for 15% of people. Going undiagnosed or receiving misdiagnoses can place a huge emotional and financial burden on patients and their families. For many that go undiagnosed, it can feel like the healthcare system as a whole has failed them.

So in 2008, the National Institutes of Health (NIH) launched the Undiagnosed Diseases Program (UDP), recognizing the unmet need for faster and accurate diagnoses. They began accepting patient cases based on applications, and have to date received thousands of applications.

The UDP goes to great lengths to find a diagnosis for their patients. Their original clinical site is at the National Institutes of Health in Bethesda, Maryland, one of the largest medical research centers in the world. But as the program has grown in popularity, their resources extend to other clinical sites across the country including Boston, Texas, California, and Florida (see a complete list of clinical sites here).

Mark O. Hatfield Clinical Research Center on the National Institutes of Health Bethesda, Maryland campus NIH/Wikimedia Commons

The UDP provides (for free!) at any of these sites:

  • A week-long comprehensive evaluation at a nationally ranked hospital within the program including:
    • Thorough diagnostic testing
      • Laboratory studies
      • Imaging
      • Genetic testing
      • Genetic and exome sequencing
    • In-person expert consultations
      • Clinical assessments from up to 25 different specialists
      • Participating sites in MD, MA, NC, TX, CA, FL, TN, PA, UT, WA, and MO
  • Access to nation-wide resources through the Undiagnosed Disease Network
    • A collaborative network of cross-disciplinary health professionals
    • Subspecialty expertise
  • The hope of a diagnosis
    • 25-50% of applicants receive full or partial diagnoses!
    • Treatment options

In just two recent years, the UDN has diagnosed 31 new diseases and has worked to improve various treatment methods. A huge part of their success is a result of new genetic technology and an emphasis on data sharing between patients and professionals. This highlights the importance of increasing access to genetic counselors and clinicians to improve diagnosis and treatment for all patients.

Anyone that has a longstanding medical condition unable to be diagnosed by a referring physician is a candidate for the UDP. The UDP at the NIH is located in Bethesda, Maryland, but in 2014 the UDP became part of a larger network of seven clinical sites called the Undiagnosed Diseases Network (UDN) and continues to grow. So, if Maryland is too far away, other hospitals in the US like Baylor, Duke, Stanford, and Vanderbilt now run the program and may be closer to you.

If you’re interested in learning more about the UDP, visit their website.

And if you or a loved one has an undiagnosed disease, apply here today.

References:

The Undiagnosed Disease Network Official Site: https://undiagnosed.hms.harvard.edu/

Splinter K., Adams D., Bacino C., Bellen J. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. New England Journal of Medicine. 2018;379:2131-2139.https://www.nejm.org/doi/full/10.1056/NEJMoa1714458?query=TOC

Gahl, W. A., Wise, A. L., Ashley, E. The Undiagnosed Diseases Network of the National Institutes of Health – A National Extension. JAMA. 2015;314(17).

Gahl WA, Tifft CJ. The NIH Undiagnosed Diseases Program: lessons learned. JAMA. 2011;305(18):

1904-1905.