World Rare Disease Day emphasizes the importance of early diagnosis
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On the last day of February (29), World Rare Disease Day is celebrated, a date aimed at raising awareness, reinforcing the importance of early diagnosis and seeking incentives for the development of research. According to the World Health Organization, there are around 13 million people in Brazil who suffer from one of the more than seven thousand existing rare diseases.
About 30% of patients with rare diseases die before the age of five; 75% of them affect children and 80% have genetic origins, according to the agency. A rare disease is considered to be one that affects up to 65 people out of 100,000 individuals.
Although most rare diseases have a genetic origin, they may only manifest themselves years or decades later. Dr. Eli Mansur, a doctor specializing in immunological and allergic diseases at Unicamp, cites as an example hereditary angioedema (painless swelling under the skin, triggered by an allergy to animal hair, medicines, foods).
“The person is born with the genetic alteration, but they can remain, for example, throughout childhood, without having manifested crises, and these can appear later, sometimes even in adulthood”,
says Mansur.
The specialist states that patients with rare diseases suffer from a considerable delay in diagnosis due to some variables.
“Some rare diseases may have overlapping clinical and laboratory manifestations among them, as well as with other more common diseases. Another aspect is the lack of knowledge about most of these diseases, by professionals and the population, making identification even more difficult”,
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The importance of early diagnosis
Maria Clara Marques Bacci, 74 years old, only identified last year as having Fabry, a rare and progressive hereditary disease characterized by the accumulation of a type of fat in the body (called glycosphingolipids), leading to serious and systemic symptoms in the heart, nervous system and kidneys .
“In my adult life my health worsened a lot, with pain in different parts of my body, but I never imagined it could be anything other than a common illness,”
says Maria Clara. She says she only suspected it was something more serious after her son, who lives in the USA, identified in a genetic test that he could have Fabry disease.
“For a long time we were looking for information on how to find out about this here in Brazil, but the tests were very expensive. Plus, there wasn’t much information on the Internet,”
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Technology assisting in diagnosis
The development of technologies that use machine learning and artificial intelligence have helped patients and healthcare professionals identify these diseases at an early stage. This is how Maria Clara was finally able to diagnose Fabry disease, after finding a free evaluation platform.
“Most rare diseases have no cure, but they have treatments that help control symptoms, offering a better quality of life to the patient”, says Szymon Piatkowski, founder and CEO of Saventic Health, a Polish technology company that develops artificial intelligence algorithms. to speed up the diagnosis of rare diseases, and which provides a free platform so that people with any symptoms or limitations, who have not yet been diagnosed, can carry out an assessment – a platform that Maria Clara found to identify Fabry.
According to Piatkowski, on the platform it is possible to find a description of the symptoms, causes and procedures available for diseases.
“Based on the information shared by the patient and the analysis generated by the algorithm, a medical team, made up of general practitioners, immunologists, geneticists, among other specialties, will analyze each case individually. If there is a medium or high risk of rare diseases, we can refer the patient for tests or to a Reference Center, depending on the suspicion”,
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Interested parties will be able to access the platform through the website.
About Saventic Health
Founded in 2019 in Poland, by Szymon Piatkowski and Prof. Grzegorz Basak, Saventic is a technology company that develops artificial intelligence algorithms to accelerate the diagnosis of rare diseases. Based on the information shared by the patient – through symptoms, history and tests already carried out – and on the analysis generated by the algorithm, the medical team, made up of general practitioners, immunologists, geneticists, among other specialties, will analyze each case individually. If there is a medium or high risk of rare diseases, they can refer the patient for tests or to a Reference Center, depending on the suspicion.
Saventic operates in Poland, Germany, Canada and began its activities in Brazil in 2023. The company also intends to expand its operations to France, Spain, Mexico, Colombia, Chile and Argentina, still in 2024.
*With information from consultancy
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