Committed to standing together for rare disease

Since 2008, Rare Disease Day has been celebrated around the globe to raise awareness of the more than 300 million people living with rare diseases worldwide. Although many people may see February as a cold and dreary month, it’s also a special month—with only 28 days (or 29 every four years). This is why it was chosen to represent Rare Diseases. And I find honoring rare disease patients in this time of year brings renewed hope and opportunities to come together with purpose. Most importantly, for families living with rare diseases, the month of February means community and uniting for a purpose.

When I first entered the rare disease space from oncology nearly a decade ago, I didn’t know what to expect. I was worried that it would bring me further away from working with patients. I was hesitant, thinking everyone knows someone with cancer, but most don’t know about people living with a rare condition. I soon came to realize that although individually uncommon, approximately 30 million people in the U.S. are living with a rare disease that severely impacts their lives, equating to about 1 in 10 Americans.

There are over 7,000 known rare diseases, but more recent research seeking to align major databases, such as Orphanet, now estimates the number of rare diseases to be more than 10,000. Importantly, rare diseases are often chronic, progressive, and frequently life-threatening. Because of the low prevalence of each disease, people living with the same rare disease may reside across the globe—making it essential for families to connect and for awareness, support, and education on rare disease to be at the forefront.

Around 80% of rare disorders are genetic and approximately 50% affect children, of whom 30% will pass away before the age of 5. Unfortunately, less than 5% of rare diseases have an approved treatment, leaving most without many, if any, options.

Looking back, I’m glad I made the switch as I’ve been able to get even closer to impacting patients in meaningful ways. In my time in this field, I’ve been fortunate to work across five rare diseases—all of which were very different—and showed the challenges people who are living with a rare disease face every day.

I learned that due to the large number of rare diseases, few clinicians have experience seeing and treating certain disorders. Because of this lack of medical knowledge, patients and caregivers are often left on their own to research symptoms, obtain a diagnosis and access treatments.

Even worse, the financial burden of rare diseases is immense—not just for patients and their families, but the larger healthcare system. Because of this, many individuals in the community can feel lost, unheard, or worse, even ignored. Despite all these obstacles, I’m honored to join patients on this journey, by listening to their stories and creating more pathways for them to find the care they need, specifically, Kyowa Kirin North America is committed to supporting patients with rare diseases through education and compassion.

Personally, I’m grateful to be at an organization driven by core values that prioritize empathy, compassion, and caring about people. Since I came to KKNA as the first and only employee in the newly established Rare Disease Franchise, we’ve grown to well over 100 dedicated employees in the span of just 4 years. Throughout this time, we’ve remained committed to developing meaningful engagements and supporting disease awareness for the community.

By investing in disease awareness and education campaigns for the rare disease community, we are investing in people—hopefully offering them an earlier diagnosis, faster access to effective treatments and supportive therapies, and ultimately, closure.

For patients and families fighting a rare disease, we understand the obstacles and challenges you face every day. This February 29th, we want you to know we hear you, we see you, and we will continue to stand with you until the lives of all patients with rare diseases are changed for the better.