Hi there, and welcome to Beyond Genes! I’m super excited to have you here at the beginning of this journey. If you have found yourself here, let me introduce myself – Hello, I’m Gemma – a mother, wife, advocate and storyteller. I am a Trustee with the Timothy Syndrome Alliance, mother to my son Noah whoContinue reading “Welcome to Beyond Genes”
Category Archives: Uncategorized
When the diagnosis comes: A journey through shock, grief and hope
When you first get a rare genetic diagnosis for your child, it’s like the floor disappears beneath your feet. As a pediatric nurse for 20 years and a mom of three, I knew something was off with my youngest son, Patrick. He didn’t move much. He didn’t babble or crawl. But he smiled—a lot! ThatContinue reading “When the diagnosis comes: A journey through shock, grief and hope”
Lee
When our son Lee was first diagnosed with Timothy Syndrome (TS) just after his 1st birthday in 2011, my husband and I felt so alone with the diagnosis. We quickly learned how extremely rare the syndrome is and how little information there was about it. The information on the Internet was very grim as theContinue reading “Lee”
Connor
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 developedContinue reading “Connor”
Bear
We picked the name Bearon to give our son a name that means “Young Warrior”, with the plan to nickname him Bear. My husband and I had so many dreams for him and spent our nights lying in bed chatting about what it would be like having a boy. All signs pointed to a veryContinue reading “Bear”