(WJLA) - When Lily Smith was born, she appeared to be a healthy, happy baby, reaching milestones like a normal little girl. But at five months, her parents noticed something was wrong:
"She was getting really tight, fisting. The pitch of her cry changed and it was at that point that we really got concerned," said her mother, Kathleen.
After extensive testing, Lily was finally diagnosed with Krabbe – a rare genetic disease that affects muscle tone, sight, hearing, and can often be fatal.
"They said that she would live another seven months and that they would try to keep her as comfortable as they could -- but that we should contact hospice and take as many pictures as we could," said Kathleen.
"To say that it was devastating would be an understatement," said Lily's father, Ben.
A cord blood transplant and 24 months later, Lily is still alive, and the disease has stopped progressing. But she still spends her days in a pediatric wheelchair, receiving medicine six times daily.
"It's so painful for them," said Kathleen. "It's such a horrible, horrible disease. It makes them so uncomfortable."
Lily’s parents Kathleen and Ben are now spearheading an effort to change the law in Maryland to include Krabbe in the screening of newborn babies.
"When you're dealt a blow and you're gonna lose your child, you have to find some hope, and our hope was helping others," explained Ben.
"We feel that adding Krabbe to newborn screening in the state of Maryland could potentially save lives," added Kathleen.
Six diseases total would be screened if the law is changed, at an additional $4 to $6 per newborn. Maryland would join four other states that currently screen for Krabbe.
These days, Lily’s family is grateful for a transplant that has extended her life by at least 10 years. They hope their work will prevent other families from having to walk in their shoes:
“We want her life to have changed something in Maryland and maybe even nationwide."