On the outside Declan Bellinger seems like your typical two-year-old: playful, curious and quick to go from tears to giggles. But on the inside, Declan is battling for his young life against a genetic disease.
At three-months old, Declan's parents received devastating news. A routine newborn screening detected their son carried a gene for Cystic Fibrosis. A follow up test confirmed the worst: Declan had inherited a disease that would severely shorten his life expectancy.
"I left the room," recalled Declan's mom, Melissa Bellinger. "I didn't want to hear it. I couldn't believe it."
Though both Melissa and her husband Mike carried Cystic Fibrosis genes, neither had a history of CF in their families.
"The first thing I did, which everyone tells you not to, is google the disease because we really had no clue about it," said Mike.
CF is caused by a defective gene that causes a buildup of thick mucus in the lungs, pancreas and other organs. That mucus makes it difficult to breath and can lead to deadly bacterial infections in the lungs. People with CF also have difficulty absorbing nutrients properly and often suffer from malnutrition.
Despite a healthy appetite, Melissa noticed early on that Declan was having trouble putting on weight as an infant. Declan must now take a pancreatic enzyme supplement every time he eats to ensure his tiny body can breakdown food properly.
"It's hard when you're out in public with him because he looks totally normal so you really wouldn't know. People are wondering why you won't give him food, or let him play too much or you're wiping his hands constantly and don't let him touch things," explained Melissa. "They look at him and think there's nothing wrong with him."
In addition to his enzyme supplements, Declan undergoes daily treatments with a vibrating vest that helps loosen the mucus in his lungs. The 30-minute treatment is tough for the toddler to sit through, but Declan and his parents, along with big brother Nathan, make it a celebration with claps and cheers each time the clock on his whirring machine ticks down to zero.
Though about 10 million people carry the defective CF gene, only about 30,000 Americans are affected. Those with the disease inherit a defective CF gene from each parent. Each time two CF carriers have a child, that child has 25-percent chance of having CF.
Because of this, pharmaceutical companies are slow to research new drugs to combat the deadly disease. But researchers have made great strides in the last decades in expanding the life expectancy for children diagnosed with CF.
"Lifespan has increased tremendously. Back in the 1950's a child with CF would typically only live to age two," explained Doctor Ran Anbar, Director of Pediatric Pulmonary Medicine at Upstate Golisano Children's Hospital. "When I started in the field 25 years ago that had increased to 18 or 19. Now if a child is born with CF we tell the parents that the average age is 38, but with the therapies coming fast and furious I expect a near-normal life span is quite likely."
The most recent drug approved for CF, Kalydeco, appears to be the next-best thing to a cure for a small group (four-percent) of patients with CF. Though it's only effective for one of the more that 1,800 different CF genes and won't help Declan's specific form of CF, there is hope that researchers are on the brink of cracking the code.
"I think it's only a matter of time before we go over the hump and find a cure for all the gene mutations," said Mike.
The majority of funding for Cystic Fibrosis research comes from the donations from families, loved ones and supporters all over the world who hope to find a cure. The next local opportunity to get involved in the fight against CF is at the Great Strides Walk in Syracuse on May 31st. For more information about Cystic Fibrosis and for a list of all the local walks, click here .
More information about Declan's team can be found by clicking here .