A 50-Year Wait
Sabine Pitschula knew she was sick, but it took decades to uncover the cause: primary immunodeficiency.
Telemedicine and Genetic Counseling
Thanks to online visits, patients can access genetic counseling despite a global pandemic.
Video: Getting the Right Diagnosis
At 40, Stacy Ahearn finally learned she had a primary immune deficiency.
Video: How to Find the Right Diagnosis
Rare diseases are often difficult to diagnose. We asked several patients for advice.
Getting a Handle on Hemophilia
New global data reveals the bleeding disorder is more prevalent than previously thought, according to the World Federation of…
Video: Painting the Patient Journey
What was life like before diagnosis? CIDP patient Rohit picks up a brush to explain.
Forty Years of Knowing How
Replacing C1-INH plasma protein gives a rare disease a longed-for treatment.
Newborn Screenings for Immune Deficiency
Advocates reach a milestone in the United States, press on around the globe to save lives.
A Family’s Fight for Access
Ten years later, the Bartko family reflects on finding the right treatment and stepping forward to help others do the same.
When Doctors Become Detectives
The Undiagnosed Diseases Network seeks answers for patients with rare conditions.