Parents: Loïc and Chloé
Year of Birth: 2018
Hometown & Country: Toulouse, France

A Message from Noé’s Parents:

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.

Noé never ceases to surprise us, he is constantly evolving. He is a talkative little boy, he has a good vocabulary and forms simple sentences. He knows how to answer simple questions, but you have to give him time. He likes to interact with others and now people are beginning to understand him better. Very curious, he likes to discover what is around him and always asks: “What is that?” He now moves with a walker for short distances but shows a desire to walk and move around alone. He has spasticity in his legs which really limits his motor skills. During the week, he has a very busy schedule but we thank all the professionals who support Noé because they are all very caring, involved and allow him to evolve.

Noé is a very funny little boy, who has a wonderful smile. He loves to laugh and is very cuddly. He can also be very stubborn, and complain when something doesn’t suit him. Reading books, playing vet and cars, watching cartoons, listening and dancing to music, riding a pony, looking at the lights and going to the swimming pool are some of Noé’s favorite activities. He also really likes fire trucks.

What are our Dreams for Noé?

We are lucky and so grateful to have our Noé. It makes us see the world differently. His love makes us happy souls. We wish him the best, to be as independent as possible, to achieve everything he desires. We also hope that it is possible that he could benefit from a remedy that will help him improve his motor skills. We have created an association “Tous avec Noé” to provide financial and material assistance to Noé for his physical, psychological and emotional development; to finance methods or therapies abroad; to raise awareness of positive inclusion; to raise funds to support medical research and hopefully a treatment for MCOPS12.


Be a part of helping us find treatment options and ultimately a cure for every MCOPS12 Patient Worldwide! ​

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