Newborn Screening Saves Lives
Around the world, more babies than ever are getting tested at birth for rare conditions, like SCID. But one of the world’s le…
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.