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Rare diseases are much more common than the name suggests: they affect about 13 million Brazilians and 300 million people worldwide, in a universe of up to 8,000 different diseases, almost all of genetic origin
Written by Bruno TelesPublished on 14/07/2026 at 18:38
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Defined in Brazil as those that affect up to 65 people per 100 thousand inhabitants, rare diseases are individually uncommon, but together form a huge contingent of patients; the SUS has maintained a national policy since 2014 and has been expanding diagnosis and access to medications
The story of a child diagnosed with a rare syndrome moves the world, but hides a fact that almost no one imagines: a rare disease is not synonymous with an isolated case. Combined, these conditions affect a multitude of people in Brazil and around the world, in a public health portrait updated in 2023. According to Folha Vitória, rare diseases affect about 13 million Brazilians and more than 300 million people worldwide, although this number may be even higher due to underdiagnosis. It is a silent legion of patients.
The paradox lies in the name itself. Each of these diseases is, on its own, very uncommon, but together they are enormous. According to Folha Vitória, there are between 7,000 and 8,000 rare diseases already identified, with 70% to 80% of them having a genetic origin, which makes diagnosis complex and often delayed. There are thousands of different conditions, each with its own challenges
What defines a rare disease in Brazil
To organize care, the country needed to establish a clear criterion on what constitutes a rare disease. It is based on the frequency with which each condition appears in the population. According to Folha Vitória, in Brazil a disease is considered rare when it affects up to 65 people per 100 thousand inhabitants, a limit that defines which conditions fall into this group and receive specific attention. It is a line that separates the common from the uncommon
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Image caption (doencas-raras-2.jpg): Rare diseases affect about 13 million Brazilians. Photo: Reproduction/press
According to Folha Vitória, the biggest obstacle faced by those living with a rare disease often comes even before treatment. It is the long wait to discover what they have. As these are conditions little known even by some doctors, many patients spend years and visit several specialists before receiving a correct diagnosis, which delays care and increases the suffering of families. This journey in search of answers is one of the greatest dramas faced by those dealing with a rare disease
What the SUS offers for rare diseases
Faced with such a large problem, Brazil has set up a public structure to try to address it. And it has formally existed for more than a decade. According to Agência Gov, since 2014 Brazil has adopted the National Policy for Comprehensive Care for People with Rare Diseases, and the SUS offers care for prevention, diagnosis, treatment, and rehabilitation of these patients. It is an attempt not to leave anyone alone in the face of a rare condition
Image caption (doencas-raras-3.jpg): The SUS has maintained a national policy for the diagnosis and treatment of rare diseases since 2014. Photo: Reproduction/press
And access to medication, one of the most expensive and difficult points, is also part of this structure. According to Agência Gov, currently 152 medications are offered by the SUS, 96 of which are exclusively for 54 rare diseases treated in outpatient clinics, which extends the reach of treatment. Each medication provided by the public system represents relief for families who could not afford it
Advancements in the Diagnosis of Rare Diseases
If diagnosis is the biggest bottleneck, it is precisely in this area that the country has been trying to advance with technology. Genetic science has fully entered this battle. According to Agência Gov, the Ministry of Health began incorporating Whole Exome Sequencing into the SUS starting in 2025, an advanced genetic test that helps identify rare diseases and shorten the long journey to diagnosis. It is genetics at the service of those who have waited years for an answer
This type of advancement has an impact that goes beyond individual health. A quicker diagnosis prevents incorrect treatments, reduces costs with unnecessary consultations and hospitalizations, and allows the patient to start the right care sooner. For health economics, investing in precise diagnosis of rare diseases is also a way to better use rerson goes years without knowing what they have
Why Talking About Rare Diseases Matters
Giving visibility to rare diseases is the first step to improving the lives of millions of people. The more society knows about the topic, the easier it is to demand public policies, encourage research, and accelerate diagnoses. Campaigns and moving stories, like those of children facing these conditions, help raise funds and keep the issue at the center of the debate, benefiting the entire patient community
For Brazil, the message from the numbers is clear. A group of 13 million people cannot be treated as an exception, and taking good care of those with a rare disease is a matter of public health, science, and dignity, requiring constant investment in health. As the country continues to expand diagnosis, access to medications, and support for families, more patients will have the chance to live better, even in the face of conditions that still have no cure. Tell us in the comments: do you know someone who lives with a rare disease?
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