Immune Dysregulation Program Patient Stories
1 - 6 of 6
X-linked Lymphoproliferative Disease 1: Rafi’s Story

Genetic sequencing revealed that Rafi had an extremely rare, often fatal disease — and the discovery was amazingly made before he had serious symptoms.
Multicentric Castleman Disease, PRES and Immune Dysregulation: Joey's Story

Small, flu-like symptoms quickly worsened for 13-year-old Joey, causing his organs to fail and his family to desperately search for help with his rare disease.
Immune Dysregulation: Andrea's Story

When Andrea, 10, began having vision problems, there's no way her family could have predicted the complex diagnostic journey they were about to embark upon.
Individualized Medical Genetics: Athan’s Story

Athan was very ill, but tests were inconclusive until the Roberts Individualized Medical Genetics Center uncovered a rare gene mutation. With targeted treatment, Athan is thriving.
CD40LG Duplication-associated Autoimmune Disease: Elijah’s story

In unlocking the key to Elijah’s mystery illness, CHOP doctors identified a new autoimmune disease and developed a customized plan to treat his disorder.
Hemophagocytic Lymphohistiocytosis: Luca’s Story

After receiving treatment for hemophagocytic lymphohistiocytosis (HLH) at Children’s Hospital of Philadelphia, Luca is on the road to recovery.