Aine Keogh and her son, Ciaran, were both born with 22q11.2, which she quotes as the “most common rare syndrome you’ve never heard of”.
Growing up, Katie achieved most of her developmental milestones on time. She walked a little later at 14 months but had already had two open heart surgeries by that time. Katie’s speech wasn’t developing as it should, so she had weekly speech therapy until she was four years old and her mother learned sign language to communicate with her.
Maddy was born in Cleveland, Ohio and is 25 years old. She was about three months old when her family received the news of her 22q diagnosis. At seven weeks of age, Maddy had open-heart surgery
I am Roger, a 60-year-old man who was born in 1960 with DiGeorge Syndrome and the 22q11.2 Deletion Syndrome but did not receive a diagnosis until I was 43 years old!
Jeff was born on November 23, 1992 and we immediately knew he had a cleft of the soft palate and low calcium levels. We were told that nothing else was wrong with our son.
I guess I didn’t want to leave the warm cocoon of my mother’s belly because of all the problems in the world I would face with my health. That was evident when they found that when I exited finally the cord was wrapped around my neck.