After a normal pregnancy, Noé was born at 39 weeks, he measured 51 cm and weighed 3.06 kg. As our third child, he joined his big sister and brother. Minutes after his birth, Noé began having difficulty breathing on his own and was sent to the neonatal unit at another hospital for treatment and monitoring. The team from this pediatric unit was unable to stabilize Noé’s condition and he had to be rushed to a distant hospital. He remained on a ventilator for 5 days in pediatric intensive care. He quickly showed us his warrior temperament, and managed to breathe and eat on his own. He remained under surveillance in the neonatal unit in the same hospital for 10 days. He then underwent a lot of tests: MRI, CT scan, ultrasounds… We also took a genetic test because the doctors had a lot of questions.

Noé’s journey continued with the discovery of several eye abnormalities, leading to his first surgery at four months old to enhance his vision in his right eye. He benefits from regular ophthalmological follow-up. We know that he sees, he recognizes and names colors and objects and knows how to find his way in space, but his field of vision is very limited and he is tired.

We received the diagnosis of  the RARB gene variation in November 2019, MCOPS12, but the doctors knew nothing about this disease. No one has been able to tell us what Noé will or will not be able to achieve. The announcement was dizzying for us.