Franki was born on Mother’s Day 2016. Shortly after he was born the paediatrician informed us that he had been born with a few birth defects that, by themselves, shouldn’t amount to anything to warrant us to worry about. But we did. We were shattered and overcome with anxiety. Little did we know then, that […]
Will was born in 2015 at 41 weeks and weighed a healthy 7 pounds, 12 ounces. We thought he was the strongest baby in the world because he held his head high immediately after delivery. I have the most amazing photos of him, minutes old, laying on my chest pushing his own chest and head […]
Coucou..je m apelle Chloé..j ai 16ans et demi Maman va vous raconter un bout de mon histoire Il a fallut 16ans et 5 mois pour enfin trouver le nom de la maladie: KAT6A je suis là seule à ce jour diagnostiquer en Belgique 16 longues annees de combat… a frapper à toutes les portes.. un […]
Our sweet son Holden was born in April of 2015. He was diagnosed with KAT6A in December of 2016. The doctors told us there were issues present during the pregnancy. Holden had enlarged kidneys and calcium deposits on his heart and bowel. We saw a few specialists and had some tests ran but nothing showed […]
Madison is 3 years old and was diagnosed with KAT6A a few months ago. She is non verbal and doesn’t walk yet. She does shuffle her bum along the floor very fast and holds on to things to get around. She is the happiest little girl on the planet. She has low muscle tone and […]
Peter, Je t’aime beaucoup Tu es le premier petit-fils de la famille Et surtout le frère ainé de tes frères et ta sœur Qui sont charmants Paul, John Et Mary Tu es le trésor que le bon Dieu a donné à papa Emile et maman Natacha Toi le bien aimé pour ta beauté exceptionnelle Qui […]
My brother Peter has kat6a and he is very smart. He can’t talk. He likes to go to Six Flags and Hershey Park. He loves to go on roller coasters with me. One time he went on a very scary roller coaster but I couldn’t go on it because I wasn’t tall enough. He likes […]
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 […]