2023-12-19 21:55:02
At just three months old, little Miguel de Souza was the first patient in the Federal District diagnosed with severe combined immunodeficiency syndrome (Scid) through the expanded heel prick test, which became part of neonatal screening at the federal capital in 2023.
In November, the boy underwent a bone marrow transplant that came from his father at the Hospital da Criança de Brasília (HCB). Both are doing well and Miguel has already been discharged to continue treatment at home — he must be isolated for six months until he can receive vaccines.
Treatment is essential to deal with the disease, which is genetic and causes changes in the lymphocyte system. Due to the condition, the patient does not produce antibodies and is basically without immunity.
“The baby stays well for a period, while it still has the mother’s defense cells, but the optimal transplant time is up to three months. Without this, he goes through very serious infections, meningitis, septicemia – if he is not transplanted, he will die”, explains immunologist Cláudia Valente, one of those responsible for Miguel’s case. The little one will be monitored by the HCB team until he is old enough to be transferred to adult care.
Expanded heel prick test and bone marrow transplant
Miguel was born at the Hospital Materno-Infantil de Brasília (HMIB) in August, and underwent a neonatal screening exam. The sample was analyzed at the Brasília Support Hospital, which informed the HCB (reference in this type of treatment). A confirmation test was carried out at the health center, and the bone marrow transplant team was called.
The news of the diagnosis worried the family. “My world collapsed, it is a very serious illness; I felt really bad and started researching, because I had never heard of it”, explains Nara Rodrigues, Miguel’s mother. “We were hospitalized, he received immunoglobulin and we stopped breastfeeding,” she says.
The boy’s parents and his brother underwent a compatibility test for the bone marrow transplant, and his father, Francisco, was chosen. Miguel underwent chemotherapy before the procedure, to make room for the new marrow, and the surgery was performed in November.
The boy responded well to the transplant and was able to be sent home. “His brother was anxious! The first time he was admitted, when we arrived from the hospital, Pedro even cried, he loves his brother”, says Francisco.
bone marrow transplant 3
Miguel had a bone marrow transplant in November, and was discharged this Tuesday (12/19)
Brasília Children’s Hospital/Disclosure
Bone marrow transplant
Miguel must continue treatment at home, where he will be isolated until he can get his vaccines
Brasília Children’s Hospital/Disclosure
bone marrow transplant 2
The family is very happy to finally have the baby home
Brasília Children’s Hospital/Disclosure
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“I am so happy! I think now it’s a matter of time before I can hug, squeeze, kiss, because I mightn’t do any of that”, says Nara, emotionally. Francisco is already waiting for the moment to see his son in a common life, like other children. “I want to take him everywhere, so he can play, get dirty, even fight with his brother and I have to scold him. I want him to have a happy childhood, like I did,” she says.
The doctor coordinating the Bone Marrow Transplant at HCB, Simone Franco, explains the impact of such an early diagnosis for the treatment of Scid: “This is a child without many comorbidities, without having contracted several infections. Neonatal screening allows us to perform a transplant in a child who has not yet demonstrated the severe immunosuppression they present; This is important for improving survival.”
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