Expanded heel prick test gave different fates to siblings who have the same disease At 8 years old, Heitor Hideki Bueno Alves still lives in isolation, depends on daily medication, tube feeding and undergoes frequent hospitalizations. The youngest brother, Henry Haruki Bueno Soares, aged 6, goes to school, plays and leads an active life. The two are residents of São José dos Pinhais, in Greater Curitiba, and were born with the same rare disease. The difference was the moment of diagnosis. ✅ Follow g1 Paraná on WhatsApp The story of the brothers, diagnosed with Severe Combined Immunodeficiency, known as SCID, became a symbol in the movement to expand the heel prick test, an exam carried out in the first days of a baby's life and capable of early identifying diseases that do not yet present visible symptoms. 🔎 Severe Combined Immunodeficiency (SCID) is a rare genetic disease that compromises the body's defenses. Without treatment, the baby is vulnerable to serious infections and may die in the first few years of life. Treatment may include bone marrow transplantation and, when performed early, significantly increases the chances of a cure. When Heitor was born, in 2017, SCID was not part of the diseases investigated by the heel prick test offered by the Unified Health System (SUS). Therefore, the condition was only discovered months later, when he was already facing serious infections and successive hospitalizations. In 2021, Federal Law No. 14,154 determined the gradual inclusion of more than 50 diseases in the heel prick test, including severe immunodeficiencies such as SCID. The law came into effect in 2022 and divides the expansion into five stages, but does not establish a maximum deadline for implementing the new test. In the private network, expanded exams are common. Heitor Hideki Bueno Alves and his younger brother, Henry Haruki Bueno Soares. Provided by family According to the doctor and researcher at the Pelé Pequeno Príncipe Research Institute, Carolina Prando, the heel prick test is a fundamental tool because many screened diseases do not show signs in the first days of life. "Many children are born without any signs or symptoms of the disease. So, if I have a test that gives me a possible diagnosis in advance, I can take care [...] If I don't diagnose a baby with SCID, 98% of these undiagnosed children die from the infection before they are two years old", he explains. The test is performed by collecting drops of blood from the newborn's heel, generally after the first 48 hours of life. Baby taking a heel prick test Jhonatan Cantarelle/Health Agency-DF By collecting blood on filter paper, the test allows the early identification of seven diseases defined by the Ministry of Health. They are: Phenylketonuria: makes it difficult to process proteins and can affect brain development. Congenital hypothyroidism: reduces the production of hormones important for growth and development. Sickle cell disease and hemoglobinopathies: blood diseases that can cause anemia and infections. Cystic fibrosis: mainly affects the lungs and digestive system. Congenital adrenal hyperplasia: alters the production of essential hormones in the body. Biotinidase deficiency: affects the use of an important vitamin for the body. Congenital toxoplasmosis: infection that can cause vision, hearing and developmental problems. According to the doctor, early diagnosis allows treatments to be started even before symptoms appear. "Often, a change in diet or early initiation of treatment prevents permanent sequelae and can even save the child's life", he reinforces. Carolina Prando, doctor and researcher at the Pelé Pequeno Príncipe Research Institute. Little Prince Hospital Also read: Apucarana: Driver who saved man on railway says he is terrified of trains 'Scary and beautiful', says influencer who recorded lights and reported UFOs in Paraná Paraguay: Farmer son of Brazilians reappears after more than 100 days missing Two brothers, the same illness and different destinies Heitor and Henry's mother, Kelly Akemi Bueno, 39 years old, knows in practice the difference that an early diagnosis can make. She said that Heitor's pregnancy, in 2017, was peaceful and nothing indicated that the baby had a rare disease. At four months, however, hospitalizations for severe pneumonia began. After months of investigation, stays in the Intensive Care Unit (ICU) and 72 days intubated, the diagnosis of Severe Combined Immunodeficiency came. Heitor Hideki Bueno Alves and his younger brother, Henry Haruki Bueno Soares. Provided by family The condition prevents the adequate formation of cells responsible for the body's defense. Without treatment, around 98% of children die before the age of two, according to doctor Carolina Prando. When the disease was identified, Heitor was already seriously weakened. The boy needed a bone marrow transplant when he was one year and one month old. "The transplant saved his life, because if he didn't have it, he wouldn't survive much longer. But I also knew the transplant would be too risky for him to have," Kelly said. Today, the boy still faces consequences associated with infections and complications that occurred before his diagnosis. A few years later, Kelly became pregnant again. As the family was aware of the disease, doctors prepared a monitoring protocol since pregnancy. Henry was born in 2020 and, shortly after birth, tests identified the same condition as his brother. The transplant was performed at two months of age. "He was transplanted in the first months of his life, was hospitalized for a short time and today has bone marrow that perfectly produces defense cells. He is 100% cured of his disease", reported doctor Carolina. For Kelly, daily life with her two children highlights the impact of early diagnosis. "I see Heitor, who still needs medication and has a very complicated life. And I see Henry, who goes to school and has a normal life. All of this could have been different if the heel prick test had been expanded", says the mother. The brothers' story became municipal law Heitor Hideki Bueno Alves Provided by family The brothers' story also inspired legislation in Curitiba. In 2024, Municipal Law No. 16,381, known as the Henry and Heitor Law, was sanctioned, which provides for the expansion of the heel prick test in the municipal public network from seven to 30 diseases. The proposal was created after the family shared their experience with the two boys. The law seeks to expand access to early diagnosis of rare and serious diseases, but it has not yet been implemented in practice. "If we expand knowledge, reach one person and save a child, I will certainly be happy", highlighted Kelly. Expansion still faces challenges Currently, the National Neonatal Screening Program guarantees screening for seven diseases through the SUS. In 2021, federal law determined the gradual expansion to more than 50 conditions, but implementation depends on the structuring of states and municipalities. "The more we can incorporate, the better. These diseases are conditions in which early diagnosis makes all the difference in the survival, quality of life and development of these children", says Carolina. The doctor emphasizes that enlargement does not depend only on the exam. "When we talk about the heel prick test, we're not just talking about the exam. We're talking about an entire neonatal screening program, from offering the test to referring and treating the child." In Curitiba, the legislation named after the brothers Heitor and Henry has not yet been implemented. Throughout Paraná, the heel prick test carried out by the SUS is centralized at the state level and carried out in a unified manner for all municipalities. The exams are carried out under an agreement between the state government and the Ecumenical Foundation for the Protection of the Exceptional (Fepe). Contacted by g1, the State Department of Health (Sesa) reported that "Paraná is working on the technical implementation to expand screening from 7 to up to 51 diseases gradually throughout the State, with an investment of R$ 67.3 million. The process is in the internal structuring phase and alignment of flows with the reference laboratory, with the start of the staggered inclusion of new pathologies for this year." According to Sesa, until the effective start of this new expanded phase, the program continues to cover already standardized diseases. The total volume of exams in Paraná increased from 91,471 in 2023 to 94,943 in 2025. In the first four months of this year, 20,613 partial exams were carried out in the state. Most watched videos from g1 Paraná: See more news from the region on g1 Paraná.