Boy with rare genetic disease loses vision and seeks help: 'He had many dreams', says mother

To g1, Deluma said that he is having difficulty getting the formula placed in the tube, which feeds his son. Since 2022, she has been receiving nutrition from the Regional Health Department (DRS) Baixada Santista, in Santos (SP), but often faces problems with the lack of product. According to her, the last withdrawal date was May 5, 2026, but officials warned her that nutrition was in short supply. As this is the only way to feed the boy, the mother needs to rely on donations and organizing raffles. In a note, the São Paulo State Department of Health (SES-SP) informed that the enteral diet used by the patient was acquired through a bidding process and will be available for collection next week. The secretariat added that the purchase of medicines, including those for administrative and judicial demands, requires a bidding process to be carried out, following the provisions of federal law. Adolescent Diagnosis before and after the diagnosis of the rare genetic disease in Itanhaém, SP Personal Archive Deluma explained that the investigation into the health condition began after the school teacher noticed the boy's loss of vision and change in behavior. The mother took her son to the Psychosocial Care Center (Caps) in Itanhaém, where he was referred to a neurologist. Diogo received the diagnosis in 2022, when he was 8 years old. "It totally changed our routine. I had to leave work, because he became totally dependent on me [...] Every day is a new difficulty, a new learning experience. Even so, he smiles and that comforts us. Every day we learn more from him." Help Since his diagnosis, the boy has been undergoing treatment at the Children's Institute, at Hospital das Clínicas, in São Paulo (SP). Always accompanied by his mother, he is taken by a city ambulance to receive care in the specialties of neurology, endocrinology, pain and palliative care. In Itanhaém, Diogo undergoes physiotherapy and speech therapy at home every two weeks, in addition to 250 ml of nutrition through the tube five times a day. Teenager's life transformed by rare genetic disease and seeks help in Itanhaém, SP Personal Archive The mother highlighted that she has been running a campaign on social media to be able to buy a new wheelchair, as the current one no longer meets her son's needs. She also tries a shower chair, a hospital bed, orthotics and other devices. "Even in the face of so many difficulties, we continue to fight every day to offer him maximum comfort, dignity and quality of life", concluded Deluma. Understand the disease Adrenoleukodystrophy is a rare genetic disease caused by mutations in the ABCD1 gene TV TEM/Reproduction Adrenoleukodystrophy is a rare genetic disease caused by mutations in the ABCD1 gene, located on the X chromosome. The condition causes the accumulation of very long-chain fatty acids in the body, mainly affecting the brain, spinal cord and adrenal glands. Symptoms include changes in speech, vision and behavior, difficulties walking and swallowing, loss of cognitive functions and adrenal insufficiency. Because it has only one X chromosome, it is more common in males. For women to develop the disease, they need to have both chromosomes altered. VIDEOS: g1 in 1 minute Santos