XCenter: Rare Diseases Module 2

MODULE 2: Challenges Across the Care Continuum – What Patients Face

This session will explore the lived experience and systemic barriers to navigating diagnosis and treatment. Topics will include:

– Access to specialists, centers of excellence, and clinical trials

– Insurance and cost barriers (diagnostic tests, off-label medications)

– Fragmented care and lack of care coordination

– Emotional toll and mental health challenges

– Social determinants of health and barriers for underrepresented populations

– Transitioning from pediatric to adult care for rare diseases

– Role of stigma, gaslighting, and medical dismissal

Learning Objectives:

• Understand the reasons behind the disproportionate burden of rare disease on children
• identify multiple potential barriers to diagnosis of rare disease
• Recognize psychosocial aspects of a patient’s journey with rare disease

About The Presenter:

Josh Knackert, MS, BS

Josh Knackert is a lifelong rare disease patient, trained researcher, and life science executive. He is currently working for an organization developing a potential therapy for his rare disease. He has supported a variety of pharma, device, and digital health companies in their pursuit of meaningfully improving patient quality of life. He emphasizes incorporation of the patient voice and lived perspective at all phases of therapy development and deployment.