Being a medical patient entails being vulnerable, uncertain about the future of your health and questioning which factors even contributed to you developing a condition that requires medical attention. Depending on the medical condition and its severity, a patient may be met with clear answers or be thrown into a whirlwind of confusion about their diagnoses. Patients with rare conditions however, are often times the latter.
While a specific rare disease may affect a lower number of people than other diseases, the number of Americans living with rare diseases amounts to one in twenty individuals, which is comparable to the number of Americans living with diabetes and referred to as a “national epidemic” .
The Undiagnosed Disease Network (UDN), a program which began in 2014 by the National Institutes of Health, has developed a program dedicated to diagnosing rare diseases. The program is composed of a team of specialists which are situated at twelve various clinics in the United States, each working on understanding a patient’s symptoms. The UDN has been able to identify more than 130 rare diseases, with a “solve rate of about 35 percent” .
Many of the discovered diagnoses were possible through genome analysis. On the other hand, certain cases were only diagnosable once the researchers found a couple of already diagnosed people in the world with similar symptoms .
Undoubtedly, the UDN has given many patients living with rare diseases a chance to understand their condition. “For many patients, just knowing what the enemy is — giving it a name — is something very important,” said Dr. Euan Ashley, former co-chair of the UDN . Currently, people with undiagnosed diseases must apply to be considered by the UDN.
Lesley McClurg, “Medical Detectives: The Last Hope for Families Coping With Rare Diseases,” KQED, December 3, 2018.
Erin Allday, “‘Disease detectives’ crack cases of 130 patients with mysterious illnesses, San Francisco Chronicle, October 10, 2018.