In late May 2022, at the age of 50, my night’s sleep was suddenly interrupted by excruciating, paralyzing pain. What began as extreme fatigue evolved into a sensation of “thousands of tiny shards” piercing my feet, violent cramps in my legs and feet, and joint pain. The first suspicion, chikungunya, triggered a harrowing pilgrimage through clinics and laboratories — a journey marked by misdiagnoses and the despair of uncertainty. Nearly three years later, the answer arrived, shrouded in mystery: “immune-mediated axonal polyneuropathy,” a rare disease.
This personal experience serves as the starting point for an investigation into a paradoxical universe: a small number of people are grouped into thousands of types of rare diseases, resulting in millions of patients. My journey — from an anonymous citizen to a participant in a specific Ministério da Saúde policy — mirrors that of millions of Brazilians navigating the ‘diagnostic odyssey,’ seeking refuge for their rare conditions within the Sistema Único de Saúde (SUS).
WHY THIS MATTERS
- There is still a significant lack of data regarding who people living with rare diseases are, which leads patients to spend years trying to obtain a diagnosis.
- On the other hand, in Brazil, the SUS has been the primary path for both advancing research and enabling people to access diagnoses and treatments, reinforcing the importance of public policies for rare diseases.
Up to 10 Million Brazilians May Have Rare Diseases at Some Point in Their Lives
A disease is considered rare in Brazil when it affects up to 65 people per 100,000 individuals. This is the reference value used by the Ministério da Saúde. The public agency estimates the existence of about 5,000 different types in Brazil. However, this number is considered uncertain among scientists, who mention the existence of between 6,000 and 10,000 types. The World Health Organization (WHO) uses the International Classification of Diseases 11 (CID 11, not yet adopted in Brazil), which includes 5,500 rare diseases.
Determining how many people suffer from a rare disease in Brazil is a complex arithmetic operation because information is not properly categorized to identify these individuals. Within the Sistema Único de Saúde, the SUS, “current information systems do not record the number of visits for people with a specific condition,” justifies the Coordenação-Geral de Doenças Raras do Ministério da Saúde (CGRAR) in response to a freedom of information request. This gap hinders the planning of public policies. Data from SUS services — from the Sistema de Informações Hospitalares (SIH/SUS) and the Sistema de Informação Ambulatorial (SIA/SUS) — are records of consultations, hospitalizations, and procedures performed. I certainly appear in this database, but in a fragmented way — a consultation here, an exam there — without any indication in the system that my case is rare.
Intrigued by the issue, I took the topic directly to the General Coordinator of CGRAR, Natan Monsores. He revealed that, faced with the need to know this population and unable to rely on SUS projections, he preferred to adopt the results of discussions raised by Orphanet, an international data platform: “Between 2.5% and 5% of the Brazilian population will suffer from a rare disease at some point in their lives.” These numbers represent, in reality, about 5 to 10 million Brazilians. This scale underpins the Orphanet slogan: “Rare diseases are rare, but patients with rare diseases are very numerous.”
Brazil responded to this challenge by establishing the Política Nacional de Atenção Integral às Pessoas com Doenças Raras (PNAIPDR) through Ordinance 199 of 2014. This regulatory framework paved the way for the accreditation of reference centers for specialized care, research funding, the incorporation of new treatments with the availability of genetic testing, and even the creation of means to identify patients in the system. But its implementation was — and is — no bed of roses.
Rare Diseases: Building Policy within the SUS
The SUS can be used by any Brazilian citizen, and even foreigners visiting the country, for medical consultations, exams, vaccines, treatments, surgeries, and hospitalizations, all free of charge. The Ministério da Saúde reported that 84% of the Brazilian population does not have private health insurance. These are people who, therefore, depend directly on the SUS.
Although the SUS has progressed toward including a greater number of services and assistance, gaps remained regarding rare disease cases. In well-articulated words, with a friendly tone and a smiling expression, Natan Monsores explained: “Our healthcare system prepared for two things: infectious diseases, which decimated our population for decades, and chronic diseases (cardiac, respiratory, and others). However, there was always that small percentage of children at the mercy of this entire system, the patients that I captured inside the reference hospitals in Brasília. It was leukemia, it was a syndromic condition, it was the patient with a suspected disease that no one knew what it was…” These were experiences Monsores lived through as a public health physician.
With the advancement of science, high-cost genetic tests such as the “exome” (which identifies genetic alterations associated with rare diseases) and high-complexity treatments became possible in Brazil, although costs were high. Aware of these “innovations,” patients began to claim their right to exams and treatments through legal channels. During this period, families began to unite, associations were born, and patients on the fringes of the system grew stronger to assert their rights.
Monsores continues the narrative: “In the years 2012 and 2013,” health professionals (a group I was part of), representatives of organized civil society, and medical societies, such as the Sociedade Brasileira de Genética Médica, drafted the final text of what would become the Ordinance establishing the Política Nacional de Atenção Integral às Pessoas com Doenças Raras.” In 2014, the Ordinance was numbered 199 and signed by Health Minister Alexandre Padilha. It establishes guidelines for “Comprehensive Care for People with Rare Diseases” within the scope of the SUS and signals financial funding incentives.
The policy was managed by the Coordenação-Geral de Média e Alta Complexidade do MS. Much of the initial work was administrative, involving the accreditation of rare disease reference services. The Instituto Fernandes Figueira in Rio de Janeiro, the Hospital de Clínicas de Porto Alegre (HCPA), both in 2016, and the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC FMRP-USP) in 2019, were some of the pioneering services to serve the population. However, there was still no dedicated coordination for the policy. Ahead lay a long road to make what was on paper a reality.
Rare Disease Policy More Than Doubled SUS Consultations
The creation of the Coordenação-Geral de Doenças Raras (CGRAR) in 2023 marked a turning point. The number of annual rare patient consultations jumped from 30,000 to 70,000, and the network of reference services more than doubled in two years of work, increasing from 16 to 37, present in 16 of the 26 states and the Distrito Federal. Management is focused on actions such as improvements in neonatal screening, aiming to detect rare disease conditions early in childhood. Differential payment for consultations encourages investigative and diagnostic work: a regular SUS consultation pays about R$ 20. A Rare Disease consultation pays R$ 800. Each patient can repeat this billing four times a year, which also aims to fund high-cost complementary exams.
The incorporation of new technologies has been one of the main achievements. Jonas Saute, PhD in Medical Sciences, a member of the Academia Brasileira de Ciências, and a neurologist and geneticist at the Hospital de Clínicas de Porto Alegre (HCPA) — one of the pioneering centers — describes the current moment as a “therapeutic revolution.” He narrates the complex journey to implement “Exome Sequencing” in the SUS, a high-complexity genetic test that became available through the network in 2020.
“We had the possibility of doing it here, but our equipment was not adequate, and we lacked the expertise to analyze this type of exam to generate a report. In 2021, we created a project with the hospital’s research directorate. The hospital invested in forming a group with a molecular biologist, a medical geneticist, and a bioinformatician so we could create the conditions to learn how to analyze and, with that, offer the service clinically.”
“In 2023, we began performing exome exams clinically (for people with rare diseases). Since then, we have performed about 200 exams through the SUS. With Ordinance 199, we achieved a certain fiscal balance, so to speak, allowing us to perform the exam without generating a loss.”
To circumvent the shortage of specialists capable of interpreting these exams, the Ministério da Saúde is implementing an analytical center with bioinformaticians and geneticists that will support reference services nationwide, issuing reports that will be translated into clinical diagnoses by the attending physician.
Another emblematic case of this new phase of the Rare Disease policy is the incorporation of gene therapy for Spinal Muscular Atrophy (SMA), a severe degenerative disease. The treatment, one of the most expensive in the world, was integrated into the SUS through an unprecedented risk-sharing agreement with the pharmaceutical company. Brazil became the sixth country in the world to offer this therapy in its public system.
“Before treatments existed, half of the children who died of respiratory failure by eight months or one year of age probably had SMA, but the presence of the disease was not identified,” Saute informs gravely.
The discovery of an effective treatment for SMA is considered recent. “Here at HCPA, we performed three different treatments that were approved for use in Brazil by Anvisa in 2017; all three were incorporated into the SUS, including gene therapy,” Saute revealed.
This therapy then cost R$ 12 million. Unfeasible, even for the SUS, although it has already authorized 150 court-ordered requests, according to the MS. The Coordenação-Geral de Doenças Raras prepared a service structure with specialists qualified to monitor and evaluate the drug’s efficacy, a set of guiding documents, and closed a risk-sharing negotiation with the drug supplier for R$ 7 million, for which installments will be paid according to the results observed in patients over five years.
These arrangements were aligned during 2025, and as of September, gene therapy for SMA was implemented within the SUS. Since then, 15 children have received the therapy (it is only one dose) under this model and are being monitored.
The financial machinery behind this policy is a work in progress. According to Monsores, maintaining each of the 37 accredited reference services costs around R$ 700,000 per year. That is R$ 25.9 million for these centers. Adding to this the neonatal screening programs, assistance, research promotion, the supply of high-cost medications, exams, and litigation — which costs about R$ 3.97 billion — the total bill, in 2025 alone, reached R$ 4 billion.
Who Are the Patients and Where Are They?
One of the biggest obstacles to implementing the policy is the absence of consolidated epidemiological data, as seen at the beginning of this report. To overcome this barrier, the Ministério da Saúde funds one of the most important scientific projects in this area: the Rede Nacional de Doenças Raras (Raras). Coordinated by medical geneticist Têmis Maria Félix, PhD in Child and Adolescent Health, the network is dedicated to building a national epidemiological overview.
The physician, a member of the Sociedade Brasileira para o Progresso da Ciência, reported that the first retrospective survey, published in a scientific article in 2024 with data from 12,530 patients, brought crucial information to light: “71.9% of rare diseases are of genetic origin, and the SUS was the main funder of both diagnoses (84.2%) and treatments (86.7%). Regarding skin color: 47.5% of patients are mixed-race (mestiços) and 45.9% are white. Only 5% are Black, and less than 1% are Asian (amarelos) or Indigenous. The average time for these people to obtain a diagnosis was 5.4 years.”
The ultimate goal is to integrate this data into a unified electronic medical record with SUS data, developing algorithms capable of identifying patients with a history of symptoms suggestive of a rare disease. “We expect the pilots of these projects to start happening this year,” says Monsores, with the hope that this technology can shorten the painful diagnostic odyssey experienced by so many patients.
My Adventure in the Diagnostic Odyssey
While rare disease public policy was consolidating in research environments, reference centers, and Ministério da Saúde offices, I was traversing an unusual and unknown terrain. I was bedridden, with paralyzed arms and legs, and without knowing it, I would benefit from this policy.
The first stage of my journey to find out what was happening to me lasted about a month. I started at a Unidade de Pronto Atendimento (UPA), a SUS health service focused on emergencies, in João Pessoa, where I live. The initial and mistaken diagnosis was chikungunya. I saw a doctor at a private clinic who wrongly diagnosed “fatty liver” and prescribed unnecessary medications; I made a strategic stop at a rheumatologist who discovered the nervous origin of the problem, until finally finding a neurologist who began the correct investigation.
Neurologist Bruna Nadielly began seeing me in her private practice. I could not bear the pain and could not wait for a SUS consultation. But she is also a doctor at the Hospital Universitário Lauro Wanderley (HULW), a SUS unit in João Pessoa. So, three months later, through the Posto de Saúde da Família (PSF), a municipal SUS unit, I managed to get an appointment with her at the hospital. She has accompanied me on a second leg of the diagnostic pilgrimage since June 2022. She conducted a series of exams through which various diseases were excluded: cancers, leprosy (hanseníase), Guillain-Barré Syndrome, thyroid problems, diabetes… With the exception of leprosy, I paid for all the exams, relying on financial help from people close to me at the church I attend and from family members.
The results, always negative, directed the clinical evaluation toward an autoimmune factor as the cause. It is as if a certain defense substance in my cells identified the proteins in the neurons as “enemies.” My defense cells attack the neurons in the peripheral nervous system — in the legs and arms — by mistake. This causes inflammation and even the death of neurons. This is “immune-mediated axonal polyneuropathy,” which, after three years, is considered chronic.
The story summarized here hides the pain and suffering I went through during this entire period. If it were not for my family, the support of the people from the church, and the confidence in the work of a prepared doctor, the trauma of this odyssey would be multiplied by ten.
All the treatments I have had so far, infusions of immunoglobulin, methylprednisolone, and cyclophosphamide, were through the SUS. Exhausting these possibilities, the medication I could use as an immunosuppressive agent is high-cost. I had to go to court to obtain it, as it is not listed as a medication offered by the SUS for the disease I have. Fortunately, the Court understood the need, and I’ve been receiving the medication for the infusions free of charge. They are done every six months.
With treatment, I regained part of my mobility through physical therapy. But I face permanent damage daily. The simplest tasks are complex for me and performed with pain: peeling a vegetable to make lunch; walking to the bakery; being here at this moment, sitting, typing.
At the Forefront of Care: Reference Centers
Opened in April 2022, the Centro de Referência em Doenças Raras de João Pessoa functions as a multidisciplinary outpatient clinic, offering consultations with 13 specialists (including two geneticists, a scarce resource in the country), rehabilitation, psychological support, and social assistance. By December 2025, the center had already served 1,199 people with rare diseases, with 231 cases still under investigation, covering 216 different types of diseases, according to the institution’s Epidemiological Profile. Most patients are children, reflecting the predominantly pediatric nature of rare diseases. Today, I am being treated by doctors at this center, in addition to the HULW.
It is in this environment that I met Luís Eduardo de Souza, 12, who has Duchenne Muscular Dystrophy. His mother, Vanderléia Rocha de Souza, found support in the center and in support groups to care for her son. “It took me three years to get the pre-diagnosis; I went to the internet and only found misfortune. Finally, I found a group of Duchenne mothers from Paraíba. They reassured me, comforted me, and guided me regarding the doctors,” she said.
“It’s not a favor anyone is doing. The SUS exists, and it is very good. When it doesn’t work, it’s because the front line wasn’t qualified,” says Saionara Araújo, director of the center.
Hope in Genetics
With about 80% of rare diseases having a genetic origin, scientific research is the primary source of hope. Centers of excellence such as the Centro de Estudos do Genoma Humano e Células-Tronco (Genoma USP), coordinated by renowned geneticist Mayana Zatz, are at the forefront of identifying disease-causing genes and developing new therapies.
The center, which has its roots in the pioneering work of Professor Oswaldo Frota-Pessoa in the 1960s, has already served about 100,000 people and has established itself as the largest center for serving people with genetic diseases in Latin America. The center’s work is not limited to basic research: it also performs genetic counseling, a fundamental procedure for families to understand the risk of disease recurrence. The research is funded by the Fundação de Amparo à Pesquisa do Estado de São Paulo (Fapesp).
Mayana Zatz, of the Academia Brasileira de Ciências, began her research with Duchenne Muscular Dystrophy, the disease that affects Luís Eduardo. Over decades, the research group she coordinates has studied more than 30,000 families with neuromuscular diseases and identified more than 10 new genes responsible for these pathologies, which gives a chance for gene therapy treatment.
Dr. Jonas Saute explains the logic behind gene therapy: “If I know the cause, if I know the mechanism that leads to the disease (…) How do I treat it? I replace that protein. As complex as it seems, it’s simpler. Most genetic diseases are monogenic, meaning they involve only one gene and one protein. This characteristic facilitates the development of specific treatments, unlike multifactorial diseases, where the cause is a summation of probabilities.”
However, the path from research to treatment is long and costly. Roberto Giugliani, a recognized name among geneticists for promoting the development of the fields of Medical Genetics and Rare Diseases in Latin America, has coordinated clinical trials for more than 20 years in Porto Alegre. In 2023, he founded the Casa dos Raros, an example of an institution dedicated to both assistance and research.
He clarifies that the average development time for a therapy is about nine years, passing through preparatory phases, study conduct, and clinical trials. These trials, funded by private agents, face ethical submission deadlines in Brazil that can reach 290 days. Although it is forbidden to pay research participants, there is an important secondary benefit: early access to medications that often represent the first treatment available for the disease.
When Urgency Is a Matter of Life or Death: Frederico Could Not Wait
The story of Frederico Goldsztein illustrates how urgency and immediate investment can accelerate research. In 2015, at age nine, he was diagnosed with medulloblastoma, a rare brain tumor that affects about 15,000 children worldwide each year. The standard treatment until then had been the same since the 1980s — highly toxic and with a relapse rate of 30%, which is almost always fatal.
His father, the businessman from Rio Grande do Sul, Fernando Goldsztein, did not accept the ‘death sentence’ after his son’s relapse. Without time to wait for a solution through the SUS, he sought clinical trials in the United States and, realizing that even there there was no specific research for medulloblastoma, proposed a donation to accelerate the studies. In 2021, he created the Iniciativa Meduloblastoma, an international philanthropic organization that raises private funds to finance high-level research. The consortium brings together 16 laboratories in 12 institutions in the USA, Canada, and Germany.
The results were impressive: in 2024, just three years after the initiative’s creation, two clinical trials for new treatments were approved by the FDA (Food and Drug Administration), the American regulatory agency. “It’s not a question of ‘if’ we will find it, but ‘when’ we will find the cure,” Fernando says with conviction. Frederico, who will turn 20 in 2026, lives with a quality of life never before seen in similar cases.
Although the initiative’s focus is global, Fernando promises to give back to Brazil: “when the clinical trials advance, the country will be the first to receive the new technology,” he stated. In addition, the initiative has already established agreements with Brazilian hospitals to share knowledge through webinars with local doctors.
Persistent Challenges and the Road Ahead
Despite the advances, significant challenges remain. The shortage of geneticists — fewer than 500 in the entire country — limits the capacity for diagnosis and follow-up. The geographical distribution of reference services is unequal, concentrating in the South and Southeast regions. Litigation remains an important avenue for access to non-incorporated treatments, generating unpredictable costs for the system.
The issue of high-cost medications is particularly complex. Less than 10% of rare diseases have specific drug treatments, and those available often cost millions of dollars. The risk-sharing model adopted for SMA may be a solution, but its replication depends on the willingness of pharmaceutical companies to negotiate.
Monsores recognizes the complexity: “Are we going to solve everything at once? No. But we are now starting to have mechanisms to try to mitigate these long itineraries.” The expectation is that with the implementation of electronic medical records, the formation of the specialist database, and the expansion of the service network, the SUS can offer increasingly agile and effective care.
Têmis Félix reinforces: “We know that most rare diseases have no treatment at all. There is a lot that can be done in terms of physical therapy and rehabilitation, but most do not have drug treatment.” In this context, genetic counseling, psychological and social support, and the building of support networks are as important as the search for a cure.
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