Rare Disease Advocacy: Tamar Thompson, Global Corporate Affairs @Alexion Pharmaceuticals by AstraZeneca

• 95% of rare diseases do not have approved treatments, highlighting the significant unmet need in the rare disease community.
• The unpredictable symptoms and long diagnostic process for conditions like neuromyelitis optica spectrum disorder (NMOSD) can lead to debilitating long-term disabilities.
• There is an urgent need for increased education, resources, and support to address the global diagnostic challenge and financial burden on rare disease patients and their families.

Tamar shares her inspiring healthcare journey, starting as a provider and then transitioning to the life sciences industry after marrying an Air Force member and moving to North Dakota. She now advocates for the rare disease community, particularly focusing on NMOSD, a rare autoimmune disorder that affects the central nervous system. Tamar explains that while there are an estimated 7,000-10,000 rare diseases, only 5% have approved treatments, and 90% of these diseases do not have any approved treatments

The symptoms of NMOSD can be unpredictable and lead to long-term disabilities like vision loss and paralysis. Tamar emphasizes that the journey to diagnosis for rare disease patients can be long, often taking 7 years on average, and that NMOSD is more common in women in their mid-30s, though it can also affect men and children. Tamar discusses the challenges in diagnosing rare diseases like neuromyelitis optica spectrum disorder (NMOSD)

Rare diseases are often genetic in nature, making diagnosis difficult as symptoms can be ambiguous. Tamar highlights Alexion's history of pioneering research and development in the rare disease space, including complement-based therapies and the promise of cell and gene therapies. She emphasizes the global nature of the diagnostic challenge, with patients often seeing multiple specialists before receiving the correct diagnosis

Tamar highlights the significant financial burden on families dealing with rare diseases, with costs 10-20 times higher annually. She also touches on the promise of advancing technologies, like genome sequencing, to help with earlier diagnosis, but emphasize that access and affordability remain challenges. Overall, the discussion sheds light on the struggles faced by those impacted by rare diseases and the need for more education, resources, and support for patients and their caregivers

The discussion highlights the significant challenges faced by rare disease patients and their families, including the high financial burden and lack of awareness and support. There is a need for increased education, policy changes, and investment to foster rare disease diagnosis, treatment, and access to care. 

We share the call for urgent action to address these issues and prepare for the future, given the aging population and the potential for a "silent epidemic" if left unaddressed. We discuss the challenges of diagnosing rare diseases, emphasizing the need for greater education and awareness among medical professionals. 

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