Birmingham’s Bustling Rare Disease Presence

Jun 27, 2023 at 11:45 am by steve


By Diane Ramsey-Paige, BSN, CCRC

Among the many things Birmingham is known for – including being the founding city for Veteran’s Day and having delicious food –many people are surprised to learn it also fosters a robust and growing biotechnology and healthcare ecosystem.

Birmingham is full of opportunities for collaboration and advancement in the healthcare space, from leading research and patient care being conducted at UAB and the Children’s Hospital of Alabama to cutting-edge biotech companies that develop novel therapeutics for serious and life-threatening diseases like my employer, BioCryst.

It is also home to an active rare disease community, a group I am proud to work with both personally, as a rare disease patient and caregiver, and professionally, as the Senior Global Nurse Advocate at BioCryst, which developed the only targeted oral treatment for the rare genetic disorder Hereditary Angioedema (HAE).

Around the world, over 300 million people – including about 500,000 in Alabama – have one of more than 7,000 rare diseases, which can present a number of unique challenges such as delayed diagnosis due to lack of awareness and limited or no treatment options. Organizations like Alabama Rare do amazing work locally to shine a light on rare disease, but there’s still more for us to do. I am living with rare blood disorders and am also the parent of a rare disease patient. Despite being a nurse, navigating the rare disease journey within my own family still proved challenging. I knew I could use these experiences and my medical training to hopefully make a difference, and I dedicated my career to working in rare disease.

Much of my nursing career has been spent working at academic medical centers caring for many rare disease patients, including those with HAE. Based on my experience with the HAE community, I was fortunate to have the opportunity to work with BioCryst as a consultant for more than a decade before officially joining the team in 2021. I knew their dedication to rare disease patients presented the perfect opportunity to be a part of a team that shared my passion. 

BioCryst first began in Birmingham – which is where all of our scientific discovery for new therapies for patients with rare disease is still conducted – and has grown to become a global company. We are committed to the patients, families, and communities impacted by rare disease, and to developing novel treatments for rare conditions. We are fortunate to partner with local organizations like BioAlabama to find ways to collaborate and continue to put patients at the forefront.

During my career, I have seen progress in many rare diseases, moving the needle from poor life expectancy or quality of life to patients living full, productive lives. But there is also still much to be done. 95 percent of rare disorders still have no approved treatment, so it is critical to continue R&D efforts and raise awareness about rare disorders.

Disease awareness days are one way to spread the word, such as HAE Day, which is celebrated globally every year on May 16 with the goal to raise awareness of the condition and the unmet needs of the community. By fostering greater awareness, we hope to create an environment for earlier and more accurate diagnosis of HAE and improve care for people living with this disease.

As a rare disease patient and professional, I am proud to live in a community with so many people and organizations working toward a better life for those with rare diseases through new and improved treatments and increased education. I hope that Birmingham’s presence in the rare disease space continues to grow, further helping patients and possibly even making our strong biotech presence no longer such a well-kept secret.

Diane Ramsey-Paige, BSN, CCRC as a Senior Global Nurse Advocate with BioCryst.

 

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February 2024

Feb 23, 2024 at 08:13 am by kbarrettalley

Your February 2024 Issue of Birmingham Medical News is Here!