Year of the Zebra: In review

Reflections

Last year, Elsevier Health launched its Year of the Zebra initiative. After a year of success and inspiration, we reflect on its profound impact in raising awareness and understanding of rare diseases within the medical community and beyond.  

Historically, rare diseases have received very little attention from the medical community, but in 2023, we aspired to find a meaningful way to raise greater awareness of these rare diseases and their impact, spanning from patients and families to caregivers, clinicians, and medical students.  

The Year of the Zebra initiative was inspired by a conventional maxim often used in medical training, “When you hear hoofbeats, think of horses, not zebras.” This serves as a reminder for medical students to first consider the common and likely diagnoses when evaluating the symptoms of their patients, likened to horses, rather than rare ones, or zebras.  

Despite these zebras being relatively rare when considering the overall world population, their impacts are far-reaching. Zebra or rare conditions encompass over 7,000 distinct disorders, and while each individual disorder may be uncommon, collectively they have a profound impact on the lives of more than 400 million people worldwide. 

At Elsevier Health, we strive to enable clinicians to make better and more informed decisions and prepare the next generation of future healthcare professionals, so that they can deliver the best possible outcomes for all patients.  

We shape our solutions to provide content that supports representation and inclusion of all people, driving greater awareness and bridging the diversity and equity gap for patients and healthcare professionals. 

Rare disease around the world

Within our organization, the impact of these conditions hits home as we have identified at least 100 colleagues who are affected by rare diseases, whether it’s a personal diagnosis or that of a friend or family member.  

But looking outside of our walls, it is estimated that 5% of the worldwide population is living with a rare disease, and with 8 out of 10 of these conditions being genetic, the stark reality is that 1 in 2 patients diagnosed are children.  

Despite the prevalence of these conditions, the infrastructure available to support the global rare disease community is lacking. In the US, 95% of rare diseases are without an FDA-approved treatment, and as many as 50% of these conditions don’t have dedicated foundations or research support groups, putting a bigger emphasis on the need to provide people with access to vital resources.  

The lack of research and treatments not only exacerbates the challenges faced by those with rare diseases but also prolongs the journey to diagnosis, resulting in suboptimal patient outcomes. A previous study by the European Organisation for Rare Diseases further found that as many as 25% of rare disease patients have to wait between 5 and 30 years from the first sign of their symptoms to receive a diagnosis for their condition, and 40% had initially received multiple misdiagnoses, leading to ineffective and unnecessary medical management. 

This is not to say that significant strides have not been taken in recent years to improve outcomes and raise awareness of the global rare disease community. In December 2021, the United Nations General Assembly formally adopted the first-ever UN Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families”.  

The resolution recognizes the need to promote and protect the human rights of all people, including the estimated 400 million people living with a rare disease worldwide, and affirms that addressing the needs of persons living with a rare disease is essential to advancing the 2030 Agenda for Sustainable Development.

Year of the Zebra – raising awareness among the global healthcare community

We recognized that more needed to be done to support and champion the perspectives of those living with and affected by rare diseases, to drive more action towards improved diagnosis and treatment options. Underpinning this was the response from medical and nursing students, as it was clear there was a lack of awareness and education in this space.  

Initial results from a studyse abre en una nueva pestaña/ventana carried out by Medics 4 Rare Diseases, assessing the objective and subjective knowledge of rare diseases in UK medical students, found that half of the medical students surveyed could not define a rare disease, while less than 10% correctly identified that over 3 million people in the UK are affected by one. 

Through our Year of the Zebra initiative, we wanted to educate the global healthcare community and drive greater support for the hundreds of millions around the world diagnosed with rare diseases. We also aimed to provide the wider rare disease community with access to some of the most comprehensive information and resources covering all aspects of living with a rare condition. This included the latest evidence-based studies, research, clinical overviews, education materials, and other vital resources from respected health organizations around the world. 

On February 28th, 2023, marking Rare Disease Day, we proudly launched our global initiative to shed light on these often overlooked conditions. This effort was led by Osmosis from Elsevier, the world’s leading video education platform for clinicians and caregivers, as we pledged to highlight one “zebra,” or rare disease, weekly. 

Each disease was highlighted on our Rare Disease Hubse abre en una nueva pestaña/ventana and in the Zebra of the Week newsletter, as the healthcare community could explore the intricacies of each condition and access to educational materials, aiming to foster greater understanding and provide a supportive environment for those impacted. Through our partnership with YouTube, all highlighted conditions also had a dedicated video on that specific disease with links to helpful clinical content.   

We continued our commitment to championing the voices and perspectives of some of the 400 million individuals worldwide who deal with rare diseases every single day through video testimonials. Our "I Am a Zebra" stories featured people living with rare diseases reflecting on their experiences, while the "I Know a Zebra" stories highlighted the perspectives of those who know someone living with a rare disease.  

The response from the healthcare community, particularly those in training, was profound. 

Outside the healthcare community itself, the response from patients was overwhelmingly positive with many expressing newfound confidence in understanding and articulating their conditions to their parents or caregivers. The accessibility and clarity provided by resources available through the Rare Disease Hub enabled many to gain a sense of empowerment and agency in managing their health journeys, acting as a starting point to engage and educate people about their condition, building stronger communication and support networks within their immediate circle. 

Collaborating to support the research community

In tandem with the launch of the Year of the Zebra initiative and our Rare Disease Hub, last February Elsevier’s Scientific Technical and Medical Journals division launched the new international, peer-reviewed, open-access scientific journal, Rare. Open Research in Rare Diseases. While focused on publishing the very latest research impacting the lives of patients, Rare highlights the patient experience through peer-reviewed articles from patients and caregivers themselves.  

The response to this initiative demonstrates a significant change from the research community to do more for this traditionally underserved field, and the appreciation for authors to submit their research and case reports. Within its first year, the journal received over 120 submissions to Rare and published 17 peer-reviewed articles which have been read 10,400 times.  

This year, in recognition of the substantial number of patients living with rare diseases that remain undiagnosed for extended periods of time, the journal is proud to become the Official Journal of the Undiagnosed Diseases Network Internationalse abre en una nueva pestaña/ventana.  

Elsevier partners with Every Cure

By leveraging novel AI techniques to analyze the world’s biomedical knowledge, Every Cure is working to identify 100 potential treatment opportunities in the next five years and advance 25 into further research, including clinical trials. Promising early leads include arginine for sickle cell disease, folinic acid for autism spectrum disorder, and bosutinib for ALS.

Our continued ambition

Though 2023 was the official Year of the Zebra, we know we cannot stop there. While our original goal of supporting and educating current healthcare professionals and those in training, we have seen first-hand how the positive impact of this initiative has resonated beyond the healthcare community, helping to support patients, families, caregivers, and researchers alike. 

This year, we are reaffirming our commitment to the rare disease community by pledging to cover at least 12 new conditions through various mediums such as videos, newsletters, and more. Additionally, we will launch 12 episodes of the "Raise the Line Podcasts: Rare Disease Edition," providing a platform to delve deeper into the unique challenges and stories within the rare disease community.

At Elsevier Health, our ambition is to empower the clinicians of today and tomorrow to identify and address the diverse needs of every patient. Inclusive healthcare requires a deep understanding of the populations being served, including the unique needs and challenges faced by underrepresented groups. Building an inclusive world, where every patient is treated equally and fairly begins with a strong and inclusive culture.  

We believe that healthcare professionals must be equipped with the knowledge and skills to provide high-quality care to all patients, and through initiatives like the Year of the Zebra, we aim to champion the perspectives of all patients and promote inclusive care practices that bridge gaps in access and outcomes. 

By continuing to shine a light on rare diseases among the healthcare and research communities, and the impact it has on patients, families, and caregivers, we hope that we can help shape a landscape where every individual receives the quality care they deserve, regardless of the rarity. 

Hear from our own Elsevier familyse abre en una nueva pestaña/ventana on how shining a light, supports them and their families.