Ezequiel is 1 year old and lives in Botucatu, São Paulo, Brazil.

My name is Michelle, and I am the mother of little Ezequiel. Our family also includes his older siblings, Agatha and Arthur.

Ezequiel’s story began during my pregnancy. During a prenatal ultrasound, an increased nuchal translucency was detected, raising concerns about a possible genetic syndrome. I also experienced gestational diabetes and depression during the pregnancy. We underwent several follow-up appointments and had an amniocentesis performed, but no diagnosis was found at that time. All we could do was wait for his birth to understand what was really happening.

Ezequiel was born on July 24, 2025, at 37 weeks by emergency cesarean section. His doctor noticed that his heart rate had dropped and decided to deliver him immediately. He weighed 2.75 kg (6 lb 1 oz) and measured 50 cm (19.7 inches) at birth. He did not cry right away and was taken directly to the Neonatal Intensive Care Unit (NICU). Although he did not require intubation, he needed non-invasive ventilation (NIV). During his hospitalization, he underwent numerous tests to investigate possible genetic syndromes, but none provided any answers.

We were finally able to take him home when he was two months old. Just five days later, we returned to the hospital for a routine appointment. During the visit, his cardiologist noticed that he would turn blue while feeding and crying. He was admitted to the hospital again. Despite many additional tests, everything appeared normal until he suffered his first cardiac arrest. From that point on, we remained in the hospital while the medical team searched for the cause. He could not stay without supplemental oxygen and was unable to feed normally.

At that point, the doctors ordered whole-exome sequencing. We were discharged and waited anxiously for the results at home. In November 2025, we returned to the hospital for the follow-up appointment. I was terrified that the test would not reveal anything. When the doctor told us that Ezequiel had Ogden syndrome (NAA10-related syndrome), my world fell apart. It was an overwhelming shock. I immediately began researching everything I could about the condition and realized just how incredibly rare it is. I felt fear, uncertainty, and countless questions about my son’s future.

Despite all these challenges, we made the decision to fight for him every single day. Today, Ezequiel also lives with a structural congenital heart defect and global developmental delay. He is cared for by a multidisciplinary team that includes a pediatric neurologist, gastroenterologist, ophthalmologist, nutritionist, pulmonologist, cardiologist, speech-language pathologist, respiratory and physical therapists, an osteopath, and a medical geneticist.

Currently, Ezequiel depends on supplemental oxygen and a feeding tube for his nutrition. Even with all of his medical care, he still requires many treatments and therapies to continue making progress.

Our journey has not been easy, but we continue forward with faith, love, and hope. Every day, Ezequiel teaches us the true meaning of strength and resilience. Every small milestone he reaches is a tremendous victory for our entire family.