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.

Jump to:

 

Upcoming Activities Archived Activities Resources for Clinicians

Resources for Patients   Reading Room

Upcoming Activities

Coming Soon!

Archived Activities

Adult Considerations in Spinal Muscular Atrophy: Building Clinician and Patient Medical Teams

 

 

Participate Now  

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

 

 

Participate Now  

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

 

 

Participate Now  

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

 

 

Participate Now  

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

Resources for Patients

Shared Decision Making

Dr. Mark Ballow talks about strategies for patients and their caregivers to improve communication with their doctors and healthcare teams.

Adult SMA Whiteboard Animation

Transitioning into adulthood can be tough for anyone, but it is especially challenging for people living with Spinal Muscular Atrophy (SMA).

Whiteboard Animation: Primary Immunodeficiency Disorders

PID Whiteboard:  An animated guide for patients and caregivers on what PIs are, and what to expect from clinical visits during the diagnostic phase and treatment planning.

SMA Medical Passport

Download Resource   Keep track of all your important medical information in one place with this Medical Passport for adults with SMA. Print or share electronically with your health care team to keep everyone informed of your progress.
 

Keeping SMA at Bay

Download Resource   Adults with SMA work with many doctors and health care providers (HCPs). Here are some key questions to help guide patient-HCP conversations.