Living with Farber disease — or caring for someone who has it — means navigating a condition that most physicians have read about once, if at all. The classic clinical triad of painful swollen joints, subcutaneous nodules, and a hoarse or weak cry in infancy can spend years being misdiagnosed as juvenile arthritis or an unclassified connective tissue disorder.

Granulomatosis with polyangiitis (GPA) — formerly called Wegener's granulomatosis — is among the most confounding autoimmune diagnoses a person can receive. It attacks small and medium blood vessels through a combination of necrotizing granulomatous inflammation and vasculitis, typically beginning in the upper respiratory tract before involving the lungs and kidneys.