The Numbers Behind Rare Diseases: What Do They Really Mean?

When we talk about rare diseases, we often rely on statistics to capture the scale of the challenges faced by patients, families, and advocates. These numbers can be powerful, but what do they truly signify? Let’s dive deeper into the figures to understand the realities behind them and why they matter to every one of us.

Rare Diseases by the Numbers

• There are approximately 7,000 identified rare diseases, impacting 300 million people worldwide, or about 4% of the global population.
• Alarmingly, 50% of those diagnosed are children, and 3 in 10 children with rare diseases will not survive beyond their fifth birthday.
• In Europe, fewer than 10% of rare disease patients receive treatment and only 1% benefit from approved treatment plans.

These statistics, highlighted in a Science webinar, reflect an urgent global health challenge.

"Around 7,000 rare diseases have been identified, impacting an estimated 300 million people around the world, about 4% of the global population. Approximately 50% of those diagnosed with a rare disease are children, and 3 in 10 of them will die before the age of 5. Numbers differ across countries, but it is estimated that in Europe, less than 10% of patients with a rare disease receive treatment and only 1% are managed using an approved treatment plan, making this one of the major global health challenges for the 21st century."

Also, you can find similar data on the Rare Genomics Institute website, so you can check it and use it as a relevant source. Some of the information is HERE.

The Silent Struggle of Rare Cancers

Rare cancers exemplify the unique and pressing challenges faced within the rare disease community. Imagine receiving a diagnosis for a condition so uncommon that even specialists struggle to provide answers. But, to someone who is dealing with such news, it's a problem - 100% and they do not relate to the statistics.

This is the reality for many living with rare cancers, where progress in research and treatment is often hindered by insurmountable obstacles.

One of the greatest challenges is finding enough patients for clinical trials. With such limited cases worldwide, researchers face difficulties gathering sufficient data to draw meaningful conclusions.

This scarcity also impacts our understanding of the natural history and biology of these cancers—crucial elements needed to develop effective treatments.

Even when progress is made, the development pipeline for new therapies is slow and underfunded. Rare cancers receive only a fraction of the resources allocated to more common conditions.

The combination of limited funding, logistical barriers, and inadequate infrastructure creates a bottleneck that delays advancements, leaving patients and their families to navigate their diagnosis with little hope for a cure.

Each of these challenges represents not just a logistical issue but a profound human cost. Behind every statistic lies a family waiting for answers, a child battling against time, or a patient enduring uncertainty and fear.

Rare cancers are not just a medical rarity; they are a silent reminder of the gaps in our healthcare systems and the pressing need for change. We had our story and finished it in the best possible way.

But, only after that I understood, that we are a minority and our journey is in those 5%. In my opinion, alongside genetics, technology and pharmacology improvement, every patient deserves early on and the right diagnosis, as well as treatment that will get a response. Many of the patients and their family members don't even know what to ask healthcare professionals, and that is ok since we don't need to know everything.

The family of the patient needs to know the details, presented in an understandable tone and delivered by professionals who have enough soft skills using them to communicate.

Research in this field encounters hurdles such as:

• Limited patient enrollment for clinical trials.
• Poor understanding of the disease’s natural history and biology.
• A shortage of novel therapies and inadequate funding.

These barriers, outlined in a recent study, hinder progress in developing effective treatments.

What These Numbers Mean for Us

Behind every statistic is a story—a child, a family, or an entire community fighting for survival and hope.

When we look at the statistics surrounding rare diseases, it’s easy to feel overwhelmed by their scale. But these numbers are more than data points; they are a reflection of real lives and real struggles.

Consider the family that hears the devastating news that their child has a rare disease and learns there are no approved treatments available. Picture the parent who becomes a tireless advocate, navigating a labyrinth of specialists, clinical trials, and support networks.

Each statistic is a story of resilience, heartbreak, and the relentless pursuit of hope.

These figures challenge us to act.

• Awareness and Advocacy: Rare diseases, by their nature, often remain invisible. Greater visibility is essential to ensure these conditions are recognized and prioritized in healthcare policies. Advocacy can shine a light on these “hidden” conditions, pushing them to the forefront of research and funding agendas. This is one of the main reasons I offered my voice to those who don't have the strength to communicate and ask for support.
• Equity in Healthcare: The disparity in treatment availability across countries is a strong reminder of global health inequities. Access to diagnosis, treatment, and care should not depend on geography!!! A united effort is needed to bridge these gaps and ensure every patient, regardless of location, has access to the best possible care.
• Support for Innovation: Progress depends on investment—not just financial but also in talent, infrastructure, and collaboration. By funding research and fostering partnerships across sectors, we can accelerate the discovery of novel therapies and better understand the mechanisms behind rare diseases.

Behind every fact and figure lies an opportunity to make a difference. It begins with understanding, grows with advocacy, and takes root in collective action.

Together, we can transform these challenges into solutions that provide hope and a better future for those affected by rare diseases. With that in mind, we have created the Rare and Share podcast, with the goal of sharing the stories of patients, parents and professionals - dealing with the struggle of approaching rare diseases every day.

How Can You Help?

The rare disease community thrives on collective effort. As someone passionate about patient advocacy, I believe that every action counts—from spreading awareness to supporting policies that prioritize rare disease research.

?? Let’s Discuss: What do these numbers mean to you? How can we transform these challenges into actionable solutions?

?? Share your thoughts, experiences, or ideas in the comments below.

If you found this article insightful, please like, share, and help raise awareness about the realities of rare diseases. Together, we can make a difference.