“It all started even before she was born,” says Stephanie. “I had a lot of problems prenatal, but doctors weren’t quite sure what was wrong and even after she was born, she passed all health checks.”
However, Sophie was not gaining weight and her tiny body struggled with nursing. Every time she tried to eat, Sophie could not swallow properly and would aspirate. Stephanie says at just five-weeks-old, she had immediate surgery to have a gastrostomy tube or feeding tube inserted. Through 11-months, Sophie only took in liquids through her g tube.
“Sophie was eventually diagnosed with Pallister-Hall Syndrome, an extremely rare condition with less than 100 diagnosed cases in history. There is a man diagnosed with Pallister-Hall in Australia that we have reached out to, but there really isn’t much information out there.”
Since the diagnosis, the family has asked many questions regarding Sophie’s health, but there have not been many answers. In her short and fragile life, Sophie has undergone ten surgeries and also deals with hypoglycemia, causing complications with her blood sugar, as well as a hematoma in her brain, which could eventually lead to blindness.
“My husband and I were in zombie mode when she was a baby and even now it’s extremely difficult, but we are all adapting,” Stephanie says. “One thing I can say loud and proud is that Sophie faces so many obstacles, but she adapts to them all. Her complex condition is a tough pill to swallow, but she has changed me as a person for the better.”
The family is tight knit, with Sophie having a six-year-old brother, who is also impacted by the struggles of her critical condition. The family are die-hard Buffalo sports fans and think so highly of the impact the community has in helping those in need. That’s why when they heard about a shirt drop for Sophie, they were “over the moon” thrilled to have awareness around Sophie’s journey.
“26 Shirts…Buffalo…WNY and this campaign give me hope. Sometimes it all seems like too much, but then things like this come up and I feel hopeful,” Stephanie explains.