Jack was born at full term in February 2016. As soon as Jack came into the world, he decided to give his parents a run for their money. He was born with Sagittal Synostosis, a heart murmur, Laryngomalacia, and undescended testicles. In the first year of Jack’s life he had 3 surgeries: a Cranial Vault […]
I live in New York, USA. My son, Peter, was diagnosed with severe autism and global developmental delay at the age of 18 months. We didn’t have a KAT6A diagnosis till the age of 8 years old. After many online research, after talking with multiple geneticists around the country and talking to other families with […]
Life for us living with this has been a challenge some days. Izzy was a preemie of 2lbs 10 oz. She was in the NICU for 5 weeks. She is not our biological daughter but came to live with us 2 weeks post NICU. From the start she vomited most of her feedings. She grew […]
Ma plus belle histoire d’amour. .. Ma plus grande bataille… Mon étoile de l espoir… Mon trèfle à quatre feuilles, unique, extraordinaire… Toi!!! 💫 💖Ma guerrière Chloé 💖 -Poème de Carine (la mère de Chloé) English Translation: My most beautiful love story. .. My biggest battle … My star of hope … My four […]
Bonjour voilà nous avons eu le diagnostic du KAT6A le 13 septembre dernier notre petite Lysie âgé de 3 ans. Ce qui engendre des retard psychomoteur intellectuelle et des acquisitions elle est hypotonique . Je vais essayer de vous expliquer au mieux le parcours de notre princesse. Dès la naissance Lysie ne s’alimenter pour bcp […]
Here is some of Kristen’s story….diagnosed with KAT6A at age 28, she is 29 1/2 now. She is a beautiful young woman who has endured more medical challenges than anyone I have ever known. She is a twin (fraternal), was a preemie, and born hypotonic on the short end of placental discordance. We never stopped […]