Victoria and Anthony sit anxiously with their infant daughter in the waiting room of their doctor’s office. For the last 12 months, they have been spending more time at the hospital, ER, or on the road between the two, than they have anywhere else. These foreign walls and sterilized smells are beginning to feel like home. And nothing will change until they finally get an answer about what is plaguing their daughter.
When Shelby’s name is called, her parents collectively take a deep breath. After months and months of long nights, close calls, and helplessly watching Shelby struggle, they held out hope that they would find something out that would make her life easier. With a shudder, Victoria remembered only a few months ago when Shelby started coughing… and didn’t stop. They rushed her to the ER where a nurse immediately diagnosed Shelby with severe pneumonia and blatantly told her parents: “If you had waited 10 more minutes she would have died.”
She remembered the day Shelby was born, when her baby’s heart rate spiked and they rushed Victoria into delivery. Then, when they handed her Shelby for the first time… and her umbilical cord was wrapped four times around her neck. Or the time Shelby had trouble breathing, and when she couldn’t put on weight. Or when she wasn’t hitting milestones, developmentally and physically. After everything, they never lost hope. But they also never stopped searching for an answer.
The doctor came in and closed the door behind him, sitting down before speaking a word. He began to explain that Shelby had a rare chromosomal deletion, 6q11 1.1-12 2.2, that was causing the delays and complications. And also, that there was a reason it had taken them so long to detect it.
“I have to tell you,” the doctor began, “I can’t find anyone else with Shelby’s deletion. I think… I think she’s the only one.”