Every February 28, millions of people around the world raise awareness by showing their colors in support of those living with a rare disease. This date serves as a reminder that, although each of these conditions affects a small number of individuals—formally, in most countries, a disease is considered “rare” when it affects fewer than 1 in 2,000 people—together they represent one of the largest and most underserved health communities on the planet. Today, more than 300 million people worldwide are living with a rare disease, representing close to 5% of the global population, which would equate to approximately 40 to 50 million people in Latin America.

Science shows us that what is considered “rare” is, in fact, structural: 72% of rare diseases are genetic in origin and 70% manifest in childhood. This makes early diagnosis and access to genetic evaluation an urgent necessity—not a technological luxury.

To date, more than 6,000 rare diseases have been identified, and 1 in 5 cancers is classified as rare. However, the figure that best illustrates the magnitude of the gap is another: 95% of these diseases lack an approved treatment. The result is a cycle of inequity that worsens year after year.

A journey that takes far too long

People living with a rare disease often face a long, uncertain, and exhausting journey. Data from Latin America shows that a patient may take between four and eight years to receive an accurate diagnosis and may consult multiple specialists before obtaining answers. In Mexico, the new Rare Disease Registry revealed that even patients who were eventually diagnosed had, on average, seen six specialists and waited eight years before learning their condition.

The emotional, economic, and social impact of this diagnostic odyssey is immense. Meanwhile, lost time translates directly into lost clinical progress—especially in degenerative conditions such as Huntington’s disease, which affects movement, cognition, and behavior.

Latin America: important progress, but still insufficient

Over the past three years, the region has shown some encouraging progress:

1. New frameworks and institutional efforts

Various scientific publications highlight the importance of creating regional networks such as ERCAL (Rare Diseases in the Caribbean and Latin America), which brings together patients, researchers, clinicians, and regulators under a shared agenda to strengthen diagnosis, research, and access to treatment.

Additionally, an analysis published in The Lancet Regional Health – Americas (2023) notes that although most Latin American countries still lack fully funded comprehensive frameworks, there are significant advances toward stronger institutionalization. The article highlights the development of networks such as ERCAL, as well as the promotion of national registries and the gradual incorporation of guiding principles such as equity, financial protection, and expanded newborn screening. While these initiatives remain fragmented, they demonstrate growing political will to address rare diseases as a structural public health priority.

For example, the Mexican Rare Disease Registry (2022–2024) has begun to reveal diagnostic gaps, geographic dispersion, and the absence of standardized clinical pathways. Although a fully consolidated and operational registry does not yet exist, Mexico is moving toward the creation of a national registry. In February 2026, the Chamber of Deputies approved the establishment of a National Rare Disease Registry and a National Rare Disease Commission, aimed at consolidating patient information, facilitating early diagnosis, improving healthcare coordination, and designing evidence-based public policies. The potential expansion of this registry to other countries in the region is already under discussion.

This is complemented by a key structural advancement in the region: Chile’s new Law 21.743 (2025) on Rare Diseases, which establishes a national registry, an official disease list, an advisory commission, guiding principles of equity and financial protection, and the gradual implementation of expanded newborn screening. This law represents one of the most recent and comprehensive efforts in Latin America to build institutional frameworks, governance, and financing around these conditions.

2. Increased political visibility

The visibility of rare diseases in the public agenda has steadily grown in Latin America. According to The Lancet Regional Health – Americas (2023), more countries are incorporating these conditions into their health discussions, driven by the work of patient organizations, clinical networks, and accumulated scientific evidence.

However, increased attention does not always translate into concrete public policies. With exceptions such as Brazil— which has had a National Policy for Comprehensive Care for People with Rare Diseases since 2014—the region still lacks comprehensive, well-articulated frameworks with stable funding. Most countries continue to operate with fragmented efforts, without national plans coordinating prevention, diagnosis, clinical networks, access, and financial coverage.

3. Progress in technology-enabled diagnostics

The accelerated adoption of genomics, next-generation sequencing, and AI-driven diagnostics is beginning to reduce time, uncertainty, and diagnostic errors, particularly in genetic diseases. Although implementation remains uneven, Latin American institutions are already participating in genomic data and machine-learning projects with early clinical impact.

An outstanding debt: institutionalization and financing

Despite these advances, Latin America is still far from having:

• comprehensive national plans
• regulatory frameworks and economic evaluation methods adapted to low-prevalence diseases
• equitable access
• stable funding
• predictable coverage schemes

As international organizations warn, traditional evaluation methodologies—such as classical cost-effectiveness analysis—automatically disadvantage rare diseases due to their small patient populations and high treatment costs. For this reason, countries like the United Kingdom and European consortia such as MoCA are developing specific models for orphan drugs, something that does not yet occur systematically in the region.

There are also no clear regulatory acceleration pathways, convergence mechanisms, or reliance frameworks for rare diseases, unlike what is already seen with biosimilars or vaccines.

Nevertheless, some countries have begun exploring alternative mechanisms. In Chile, for instance, Law 20.850—known as the Ricarte Soto Law—has enabled funding for high-cost treatments, including some for rare diseases, through a public fund with explicit prioritization criteria. Although not designed exclusively for rare conditions, it represents an important regional precedent toward more solidaristic and sustainable coverage schemes.

What does “leaving no one behind” really mean?

It means that the rare disease agenda must move from the margins to the core of structural public health policies. This is not just about symbolic visibility, but about guaranteeing concrete rights in terms of access, coverage, regulation, and financing.

It implies:

• Recognizing that 300 million people worldwide—and between 40 and 50 million in Latin America—can no longer remain invisible to health systems.
• Ensuring that early diagnosis and access to precision genetics become universal standards, not privileges for a few.
• Understanding that international cooperation, through networks such as CEPCAL or ERCAL, is essential to share knowledge, harmonize regulatory frameworks, and accelerate solutions.
• And above all, that Latin American countries must advance toward robust institutional frameworks with clear governance, stable financing, and sustained policies—moving beyond isolated and fragmented efforts.

Conclusion

On this World Rare Disease Day, the challenge for Latin America is unequivocal: to move from awareness to action. Because what is “rare” is not so rare. And what is truly unacceptable is that it remains invisible.