Patients living with rare diseases face challenges that impact nearly every facet of daily life. Understanding what these diseases are, deciphering diagnoses, and knowing what to expect during treatment planning are key to maintaining and improving quality of life for those affected by rare diseases.
In this hub, you’ll find up-to-date information on rare diseases, including educational videos, animations, fact sheets and other resources you can use to become your own best advocate and improve your quality of life.
Rare disease may include, but are not limited to, primary Immunodefiency, Gaucher disease, metachromatic leukodystrophy, spinal muscular atrophy, AHP, von Willebrand disease, etc.
- Diagnostic and clinical care guidelines from the IDF
- Use and interpretation of diagnostic vaccination in PI from the AAAAI
- Practice parameter for the diagnosis and management of PID from the AAAAI/American College of Allergy, Asthma, and Immunology (ACAAI)
- Guideline on immunoglobulin therapy from the American Academy of Allergy, Asthma & Immunology (AAAAI)
- A guide for nurses on immunoglobulin therapy from the Immune Deficiency Foundation
Resources for Patients
- Health-Related Quality of Life in Patients With CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study
- Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
- Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned
- Personalized Therapy: Immunoglobulin Replacement for Antibody Deficiency