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.
Upcoming Activities
Coming Soon!
Archived Activities
Adult Considerations in Spinal Muscular Atrophy: Building Clinician and Patient Medical Teams
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In this educational webcast, expert faculty will discuss treatment needs of adult patients with SMA and the unique challenges and experiences of those patients transitioning from pediatric to adult care. The webcast will also include insights about how to navigate systems and utilize the most up-to-date and appropriate therapeutic approaches for adult patients with SMA. |
The Latest Update on Metachromatic Leukodystrophy: Screening, Diagnosis, and Emerging Treatments to Improve Quality of Life of Patients
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During this 90-minute enduring material, expert panelists will discuss biomarkers that identify patients at the pre-symptomatic phase of the disease and share knowledge about caring for patients with MLD. |
Diagnosis and Individualized Management of von Willebrand Disease: Expert Perspectives on Synthesizing and Contextualizing the Evidence
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Von Willebrand disease (VWD), the most common inherited bleeding disorder, is caused by a deficiency in or dysfunction of von Willebrand factor (VWF),and results in disrupted hemostasis. VWD affects approximately 1% of individuals and can cause a myriad of symptoms, ranging from mucocutaneous bleeding in patients who are mildly affected to gastrointestinal bleeding and joint arthropathy in patients with severe disease. Despite its relatively high prevalence, early diagnosis and effective treatment of VWD have been challenging due to a need for education that contextualizes recently published, multidisciplinary guidelines and provides strategies for incorporating them into practice, including showcasing the role of prophylaxis in patients with severe VWD to prevent significant bleeding and arthropathy. |
Addressing the Unmet Needs of Patients with Acute Hepatic Porphyria
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Because of their key role in managing AHP, it is critical that clinicians involved in hematology stay current with best practices for managing this complex and often confusing disease. In this activity, experts in AHP provide practical and patient-centered guidance for optimizing screening, diagnosis, and treatment. |
Resources for Clinicians
- 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
Reading Room
- 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
Discover additional accredited CME/CE activities and patient resources on the Virtual Education Hub.