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One Out of 10 People Are Affected by Rare Diseases Globally—and We Must Listen to Their Stories

Power of Ideas
One Out of 10 People Are Affected by Rare Diseases Globally—and We Must Listen to Their Stories

We are in a period of profound unrest that is testing the strength of our global community. Our world has been turned upside down by the COVID-19 pandemic. It has challenged our health-care systems, disrupted our global economy, and exposed many preexisting health, social, and economic inequities. How we respond to this test—in science and in society—will define both the legacy and the future of this generation. For me, the answer lies in recognizing the humanity in each of us.

As humans, each of us is unique. In science, our uniqueness is marked by our DNA. And yet, despite our uniqueness as individuals, we are all part of the same human family. I have spent over 30 years in the biopharmaceutical industry and, more recently, have begun to focus solely on rare disease. In health care, policymakers have used the word “rare” to describe the statistical prevalence of a disease—in the US, that means a rare disease affects fewer than 200,000 people. And yet, one out of every ten individuals globally are affected by one of more than 7,000 known rare diseases. In that way, rare diseases may not be as rare as we believe. In fact, when I think of the people who live with these diseases, and when I reflect on my own experience with rare disease, the word “rare” feels woefully inadequate. Those who live with a rare disease are, like all of us, unique. They have families and responsibilities. They have passions and dreams, likes and dislikes, hardships and opportunities. Like each of us, they have their own unique story. When we develop and deliver medicines and innovation, we must think about the uniqueness of the individual, not just their disease. 

When we develop and deliver medicines and innovation, we must think about the uniqueness of the individual, not just their disease.

In science, the way one patient’s story begins can have a profound impact on the way many more stories will unfold. At Alexion, we are committed to building a more connected rare disease ecosystem, and it starts with a greater understanding of the patients we treat. We recognize that we can best serve patients when we truly listen to patients, their caregivers, and other stakeholders along their journey. 

By listening, we gain insights that inspire us to create community, innovate for solutions, and build systems that are designed with patients at the center. We are investing in tools and technology that help us better understand the patient journey and enable us to address unmet needs in the rare disease community. We are using patient insights to develop and deliver more innovative treatments. We are collaborating with external partners to leverage our investments in data and artificial intelligence to substantially shorten the journey to diagnosis, connecting patients with answers sooner—years sooner, in many cases. And we are engaging with patients earlier and more often in their journey to learn where we can provide greater support to them and their families. 

Understanding a person’s unique journey allows us to create better outcomes in science and in society. We learn not to make assumptions based on what we think but to make decisions based on what we hear. There is no doubt that the systems around us need to change. In science, that means addressing things like a historical under-representation of diverse patient populations in clinical trials, persistent health inequities in treatment, and finding more meaningful ways to understand what is most important to patients. In society, it means that respect, equality, and inclusion are expected, not the exception. 

Yet systemic change can only come by way of individual change. If it is our DNA that makes each of us unique, it is our shared humanity that makes us all the same. By keeping patients—people—at the center of what we do, by choosing to listen to their stories and not our own assumptions, we can advance science and society. We can leave a legacy and create a future that we are proud of.