When I was just ten weeks pregnant, I received a call from my doctor. She had information regarding our genetic results from our Counsyl test. I didn’t realize it at the time, but this call would shape my world. At that moment, we learned that both Yan and I were carriers of a non-syndromic hearing loss gene called Connexin 26. This meant there was a one-in-four chance that our future child (who we didn’t even know yet was a girl!) could have hearing loss.
Following the call, I locked myself in the bathroom stall at work and sobbed. I didn’t know how to process this information. To have a child who was deaf – what would that mean? What would their life be like? Would they even be a part of our society?
When we told our family their reactions were all over the board. Some were angry: “Why the unnecessary testing?” They demanded. “This is putting unnecessary stress on Missy at a critical time in her pregnancy!” As the weeks continued, however, a cloud of acceptance settled. I decided to remain in denial. My focus was to stay healthy for me and the baby – that was it. Yan, on the other hand, and our family, took action. Since they had information, they were going to do what they could to ensure that in the event our child was born with hearing loss, we would be able to take the next necessary steps and swiftly.
Having carrier screening during pregnancy (ideally before, but in our case during) was a game changer for our daughter Sonya. After a stress-free birth, free of complications (thank God), Sonya didn’t pass her hearing screen at the hospital. I knew she was deaf. A couple weeks later, we went to NYU audiology where profound hearing loss was diagnosed in both ears. Had we not had this carrier screening done, we might have followed a prominent Ear Nose and Throat doctor’s advice – which was to wait it out a couple months – over the advice of a young audiologist, who urged us to get Sonya hearing aids and to meet with NYU’s Cochlear Implant Center. We are so thankful that this information was available to us so that we could make the informed choice that was right for us.
This is why we collaborated with Counsyl to tell our story in the video above. We believe that expanded carrier screening has benefits that far outweigh any downsides of testing, including the fear of the unknown. Many parents don’t necessarily want to know – but knowledge is power and the ability to act for your child’s best interests day one, is a critical advantage. We weren’t directly compensated for this video, but Counsyl did make a generous donation to the Center for Hearing and Communication, where Sonya receives speech therapy and audiological services.
Thank you, Counsyl!