When my son Louis was born on October 21, 1998, my life was changed forever. I had a normal pregnancy with my first two daughters and Louis was my third child. Shortly after Louis was born, we were told Louis had Tetrology of Fallot, a congenital heart defect. He was immediately transferred to a hospital with a NICU unit and was released three days later.
Once we arrived home, Louis began experiencing jerking motions. I called his pediatrician to let him know something was wrong. I will never forget the day I went to the doctor’s office with my Mom and sat there worrying when all of a sudden he had an episode. As I suspected, something was seriously wrong and Louis was re-admitted to the hospital.
With Louis’s calcium level only at 3.7, he was diagnosed with hypocalcaemia and a rare genetic condition called 22q11.2 deletion syndrome (22q), often referred to as Catch-22. After spending an entire month in the hospital, Louis was released to come home.
Today, Louis is 13 years old and loves life to the fullest. He enjoys sports including basketball, soccer and baseball. His favorite past time is swimming. To date, Louis has had eight surgeries as a result of his 22q syndrome.
His biggest challenge is dealing with an implanted rod due to scoliosis. To ensure optimum growth, Louis needs his rod lengthened every six months. His courage and determination never cease to amaze our family. Despite his surgeries, he bounces back into his usual routine and is a determined teenager who will not let anything stop him from what he loves.
Louis understands he has 22q, yet his condition has not stopped him from pursuing his dreams and goals. Though it may take longer and be more challenging for him to reach his goals, he has a family that loves and supports him.
This journey with Louis has helped me establish The International 22q11.2 Deletion Syndrome Foundation along with other parents and professionals seeking the best outcomes for our children. I also help run a soccer league for children with disabilities which now hosts over 100 children.
Louis’s condition has changed not only my life but all those he has influenced through his charm, character, and wit.