Being born with a rare disease anywhere in the world is, in many cases, the beginning of a long journey to face disabling, progressive and degenerative symptoms, with a high risk of death and no guarantee that a treatment will exist or that it will be accessible. when necessary. This is a global challenge that goes beyond the spheres of health.
In Alagoas, according to cardiologist Hemerson Casado, there are 1,500 people with a rare disease. Of the total, 68 have Amyotrophic Lateral Sclerosis (ALS). The doctor explained that the struggle to make a correct diagnosis at the right time and the search for appropriate treatments are common in the routine of patients from Alagoas. “The State does not even have a center specializing in rare diseases”, he stressed.
Hemerson Casado has a rare disease. The doctor has ALS and presides over the Dr Hemerson Casado Philanthropic Institute for Combating Rare Diseases. The disease is characterized by the degeneration of nerve cells that control muscle movements. When this happens, the brain, spinal cord, and muscles are unable to communicate.
Therefore, the person with ALS has difficulty walking, speaking, chewing and performing other movements performed automatically.
According to the doctor, governments don’t care about rare diseases, because they are not popular and if they are not popular, “they don’t give votes”.
It is up to patients, then, to hope for judicialization. And the difficulties for rare patients in the State are countless.
“Alagoas does not even have a laboratory dedicated to genetic diagnostics. It also does not have a center dedicated to rare diseases, with research, teaching, medical assistance, social assistance, psychological care, multidisciplinary assistance, legal assistance and rehabilitation.
The doctor says that Alagoas needs to have a reference center through the Unified Health System (SUS) and from the beginning of medical training, it needs to involve future pediatricians so that they are trained and taught to identify the first signs and symptoms of rare diseases.
“There are very few geneticists and those that exist do not want to work in the interior. What is the perspective of care, for example, for a child born with a rare disease in Cacimbinhas? What are the chances of her receiving an early diagnosis?” asked Hemerson Casado. After the time of diagnosis and finally arriving at medication treatment, the patient is faced with medication insecurity at the high-cost pharmacy run by the government of Alagoas.
According to the cardiologist, there is a lack of medicine for rare patients and, almost always, the pharmacy does not have it.
The newspaper Independent Tribune was invited to participate in the presentation of the unprecedented study “Rare Diseases in Latin America”. The communication vehicle was the only one from Alagoas to be present at the event that took place at the headquarters of the Association of the Pharmaceutical Research Industry (Interfarma), in Brasília. The reporter traveled at the invitation of PTC Therapeutics. The experience was shared with journalists from Ceará, Rio de Janeiro, Colombia and Mexico.
The president of the Brazilian Federation of Rare Disease Associations (Febrararas), Casa Hunter and Casa dos Raros, Antoine Daher, highlighted that the diagnosis of a rare disease can take several years, which hinders the patient’s chances of achieving better outcomes. in the treatment phase.
“The average time for diagnosis in the SUS is around five years and four months. As 30% of patients die before the age of five, the majority of children die without diagnosis in Brazil”, he pointed out.
Regarding the origin, approximately 8% arise from genetic factors and the remainder from environmental, infectious, immunological and other causes. In 75% of cases, rare agencies affect children, among these, 30% die before the age of 5.
If for patients without rare diseases, the search for health is no longer so easy, given that life expectancy at birth in Brazil is 73 years, infant mortality is 13 children for every thousand live births and there are 1 .82 doctors for every thousand inhabitants. The struggle of rare patients in search of access to healthcare is unimaginable.
With the notable characteristic of being a country of continental dimensions, the number of specialized centers is still insufficient. There are currently 32 services registered in Brazil. The majority are concentrated in the southeast, south and northeast regions. Services specialized in rare diseases have evolved quantitatively over 10 years.
Despite the increase in the number of centers in the Northeast region over the years, they are all located in the capitals Salvador, Fortaleza and Recife.
Senior Vice President of the Americas at PTC Therapeutics, Bruce Braughton said the company studies, develops and commercializes innovative technologies that transform lives.
“We know that being born with a rare disease often means a long diagnostic and therapeutic journey. We need to keep a close and careful eye on the entire journey of the rare. Having an early diagnosis, access to adequate care, as well as efficient public policies, makes all the difference for those living with a rare illness – and this can save and change countless lives”, he highlighted.
According to Bruce Braughton, PTC’s mission is to provide access to the best treatments for patients who have little or no treatment options. PTC’s strategy is to leverage its strong scientific and clinical expertise and global commercial infrastructure to bring therapies to patients.
Ordinance number 199, of January 30, 2014, which guides the National Policy for Comprehensive Care for People with Rare Diseases, completed 10 years in 2024, but throughout this decade shortcomings were identified that undermine its effectiveness.
Among Latin American countries, Brazil is the only one that has a regulatory framework for rare diseases, a good civil society organization and advances in actions to ensure compliance with current legislation.
The legislation that covers rare diseases has a very high level of civil society engagement and specific rules for the sanitary waste, pricing and reimbursement stages.
Rare Diseases in Brazil
Despite being prominent in Latin America, the country still has a long way to go to effectively implement the national policy for rare diseases. Still, the Brazilian scenario is a source of inspiration. Brazil is like a lighthouse in Latin America in the context of justice for people with rare diseases.
Positive examples range from the fruitful articulation of patient associations to successes and innovative initiatives such as Casa dos Raros, located in Porto Alegre. In December 2021, the United Nations General Assembly (UN) adopted the resolution to address the challenges faced by people living with a rare disease and their families.
Among other recommendations, the document calls on Member States to strengthen health systems to care for people with rare diseases, to improve equity and equality in health, end discrimination and stigma, eliminate gaps in coverage and create a more inclusive society.
A study evaluated eight countries, Argentina, Brazil, Chile, Colombia, Ecuador, Mexico, Paraguay, Peru and Uruguay. In a scoring table that varies from 0 to 20 points in relation to maturity for the development of public policies for rare diseases, Brazil was in the lead with 20 points.
