In the middle of the night, Jay’lee began to cry. It was completely quiet in the maternity ward, but Jay’lee’s sharp, newborn cries rang out and echoed throughout the empty hallways. Jessica jumped out of bed, her instincts on high alert. As she knew from having her 2 year-old, Neva’lee, babies cry for all sorts of reasons. They cry because they’re hungry, because they’re tired, because they need a change or just the warmth of their mother’s touch.
As Jessica sleepily changed her daughter’s diaper in the darkness, she couldn’t have known what was causing Jay’lee to cry. She didn’t know then, that her daughter was suffering… that she was in excruciating pain.
The next morning during routine newborn checkups, Jessica asked her doctor to check Jay’lee’s foot. She had noticed something on Jay’lee’s heel the day before, but the nurses had assured her it was just a sore and they were common, just something that happened when newborns sucked on their feet. But to Jessica they didn’t look like sores, they looked like second-degree burns. As the doctor checked her foot, he began to inspect the rest of her body… and found that these suspicious sores were everywhere.
The Koch family suddenly found themselves “lost in confusion, and overwhelmed with sadness and frustration,” when only one day before they had been celebrating one of the happiest days of their lives: the birth of their second daughter. After running extensive tests on Jay’lee, the doctor arrived at a diagnosis for the concerned family. He explained that their daughter lacked a critical protein that binds layers of skin together. That without it, her skin would tear apart. But it wouldn’t just affect the outside of her body. It would cause blisters in the eyes, mouth, esophagus, and other internal organs.
Jay’lee had a rare disease called Epidermolysis Bullosa, or EB. And it had a nickname: The worst disease you’ve never heard of.
Unfortunately, the bad news wasn’t over. As if EB wasn’t rare or horrific enough, Jay’lee had a very severe form of the disease. In fact, she had a mutation no doctor had ever seen before.