For Saverio Carbone and Bridgette Ludden, the small moments are few and far between.
“It is torture … in the worst way,” Saverio says. “It gives you happiness, but it kills you at the same time, because there's nothing that we can do.”
Their daughter, two-and-a-half year old, Stella Carbone was born premature.
“She was born at 33 weeks, but she stopped growing at 28 weeks,” Bridgette says.
“We had developmental problems,” Saverio says. “Weight, enlarged spleen."
Her parents had no idea what was causing these problems.
Then last November, they received a diagnosis.
“It's very rare,” Saverio says. “It's Niemann-Pick Type C … it's a genetic disease,”
It's commonly known as ‘Childhood Alzheimer’s' because it causes progressive neurological and physical decline, affecting one in 150,000.
Her parents say things took a turn shortly after the diagnosis.
“She got pneumonia and we lost words, her crawling,” Saverio says. “She can barely sit on her own, she can't sit on her own. She doesn't eat with her mouth or drink.”
“Her disease is very progressive, she was nothing like this even two months ago,” Bridgette says.
Feeling they're on borrowed time, Stella’s parents turned to medical professionals across the country.
Their research led them to an experimental, non-FDA approved drug - Cyclodextrin - that could extend Stella’s life - however... ”We are having a really hard time finding a hospital in Florida to do this for us,” Bridgette says.
Part of the reason is Stella’s age and the cost of the treatment.
The biggest obstacle, Saverio and Bridgette say, is even though they are willing to take the risk, they're waiting on hospitals to decide.
They are still searching for a hospital to accept them under the FDA's "Compassionate-Use" program.
“It takes them months to even come back with a decision, and she really doesn't have that much time,” Bridgette says.
“Right now we just feel powerless,” Saverio says.
As they wait for news, it's the small moments that help them cope – whether it’s a smile, or a song; they enjoy what they can, even the bad times.
The couple enjoying and also hoping for just a few moments more.
“Even if she's not meant to be here for long,” Bridgette says. “At least she was here.”
For more info on Stella’s fight, or if you want to help, click here .