When Connor was born in 1993, Timothy syndrome did not exist. He came 5 weeks early through emergency c-section with webbed fingers and toes and a very prolonged QT interval. We had no idea what that meant and – at the time – neither did most of his doctors.
As time went on, he developed other medical issues and educational challenges, including an immune deficiency, kidney reflux, episodes of hypoglycemia and Asperger’s syndrome.
It was a very difficult time in our lives, not having answers or a support system. But Timothy syndrome did not define Connor and it did not define our life with him.
Every challenge it brought showed us his resilience and zest for life.
He made us laugh and had the best mischievous smile. He was incredibly smart, sometimes too smart for his own good.
We felt it was important to provide Connor with as much normalcy as possible and let him just be a kid. We did not want our days to be filled with fear and sadness, although there were plenty of those moments as well.
But then in 1999, the unthinkable happened and Connor passed away after complications from general anesthesia. It was devastating and had an enormous impact on our lives, but could never eclipse all the wonderful moments we were blessed with having him as our son.
It is so amazing to see the progress that has been made in the last 15 years since the gene discovery. We now have a community of families, researchers and medical professionals that provide enormous support for each other.
I am ever hopeful that through these individuals there will one day be a treatment, if not a cure, for the children living with TS and Long QT 8.