Rare Disease Breakthroughs Depend on How Well We Capture Diverse Voices

Vikram Karnani

Vikram Karnani

Executive Vice President and President, International and Global Medical Affairs

February 16, 2023

Rare Disease Breakthroughs Depend on How Well We Capture Diverse Voices

In his 60s, my father began having periodic coughing bouts. They weren’t too serious and never lasted long. But Dad was a former smoker who also spent decades as an electrical engineer, working on lighting projects in rural parts of India, where the air quality wasn’t that great. So my mother, who was a practicing physician, had him checked out. Doctors found nothing, and for years, we dismissed the coughing as benign.

Then, in 2018, while visiting the U.S. from India, my father started coughing and couldn’t stop. This was a man who worked out for an hour every day, and suddenly he couldn’t walk and struggled to draw a breath. He finally was diagnosed with idiopathic pulmonary fibrosis (IPF), a rare lung disease, after a full workup at the hospital.

I did what millions of people and family members do every day when it comes to rare diseases: Googled for information. I quickly realized some companies had medicines for treating IPF symptoms, but not for treating the disease. It’s an amazing coincidence that my own company, Horizon, is exploring potential treatment options for IPF. Yet, even with all the resources in the world today, nobody yet knows how this disease manifests or how it starts. There is no treatment or cure. 

Vikram Karnani and family

A staggering and frightening truth hit me: My father might not make it another year.

He battled four years before succumbing to IPF. During that time, I visited as much as possible. And I continually searched for clinical trials and other avenues to keep him going, just like every other caregiver and loved one in the rare disease community.  

Rare disease patients comprise an estimated 400 million people worldwide, with countless more impacted as family, caregivers and friends. The community faces a number of challenges, in particular the significant barriers that historically marginalized people worldwide must overcome to receive quality health care and access improved therapies.

Clinical trials for rare disease therapies are difficult and expensive to facilitate globally, so they rarely happen. That leaves us with a huge knowledge gap because ethnic and gender differences can play a role in how rare diseases manifest and progress, as well as how patients react to treatments. By excluding vast swaths of the rare disease population, our industry is missing crucial data necessary for developing therapies that can work effectively for everyone. We simply cannot make diagnosis and treatment of rare diseases consistent and comprehensive without finding ways to better include women and other underrepresented people.

My unique, three-part position as someone who was born in a different country, was a rare disease caregiver and leads an international team in health care helps inform the way we at Horizon seek to correct these inequities. We are working hard to ensure every member of the rare disease community is heard and represented. That includes hosting ongoing discussions through our #RAREis Representation program to address the global unmet need for diversity, equity, inclusion and allyship. I’m proud to foster and facilitate these deep, impactful conversations with diverse members of the rare disease community. Indeed, it is an honor and a privilege to hear the personal stories from community leaders and learn firsthand what everyone can do to better support the rare disease community. At Horizon, we’re also prioritizing learning about the day-to-day lives of rare disease patients around the world and designing trials (and eventually therapies) that include and accommodate them. It’s important to us that all rare disease patients have the knowledge, tools and ability to provide input and make informed decisions about their care and treatment.

More research is needed to shorten the time from onset of symptoms to diagnosis – which often drags on for years and includes multiple misdiagnoses – and to alleviate suffering. To produce the very best outcomes, the rare disease industry must have diversity of thought, background, representation, skills and experiences infused throughout every aspect of the business. That includes research, leadership, recruiting and development. But,significantly, it also means ensuring every voice is heard. Rare disease families everywhere need to tell their stories — and the industry needs to hear them.

2022 #RAREis Representation program discussing how we can help build a more inclusive future. To also watch the 2022 Rare Disease Day #RAREis Representation program, click here.

We’ve made great strides over the last few decades. Yet, our industry still has a long road ahead to reach equity. Every single one of us needs to start the conversation — and back it up with action to ensure real inclusion and access. Patients depend on us to get it right.

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