One Athens family has a very unique wish this holiday season.
The Straleys want their five-year old daughter to have a happy life and live every single minute to the fullest.
Lilly Straley collects rocks and seashells and loves all creatures, including her two hedgehogs, Pokey and Igel. But Lilly’s mother, Kathy Straley, is constantly reminded of when, after visiting 13 different doctors, Lilly was diagnosed with cystic fibrosis at six months old.
Cystic fibrosis, an inherited chronic disease caused by a defective gene, produces thick, sticky mucus that clogs the lungs and pancreas. It can cause life-threatening infections and prevent nutrients from breaking down.
The disease is considered an “orphan disease,” or one that is not as likely to receive federal research funding because so few people — about 30,000 according to the Cystic Fibrosis Foundation — are diagnosed.
It is only one of many the U.S. Food and Drug Administration considers an “orphan disease,” a status granted for rare conditions that affect fewer than 200,000 people. Orphan diseases may affect more than 200,000 people, but in those cases the costs of developing and marketing a treatment drug are not expected to be recovered, according to the FDA’s website.
Having worked in a pharmaceutical industry, Roxanne Male-Brune, director of grant proposals and projects in the Ohio University Graduate College, said finances for these diseases could often be the deciding factor in funding research for cures.
“Many choices for funding on drug development have been based on whether a company can accrue the cost for the research,” Male-Brune said.
There are around 7,000 rare conditions in the U.S. affecting 30 million people, according to the National Organization for Rare Disorders.
Other rare conditions on that list include lupus, Lyme disease and malaria.
Budget cuts decreased the Orphan Products Grants program—money to fund some research for orphan diseases—by more than $1 million this year.
“Rare diseases tend to be serious or even life-threatening,” said Mary Dunkle, vice president for communications at the National Organization for Rare Diseases. “Most don’t yet have FDA-approved treatments. Many are not being studied by researchers.”
Oftentimes, it’s up to the individual families to fundraise.
"The foundation believes they will have treatments for 90 percent of patients within the next five years if they keep getting the support that they need,” Straley said.
The Straley family is responsible for organizing the annual “Run Like Hell 5K Run” to raise money for the Cystic Fibrosis Foundation. It raised $8,000 this year.
Research has led to the development of Kalydeco, a drug recently created that treats underlying conditions of cystic fibrosis, but it only benefits a particular kind of cystic fibrosis—about four percent of those diagnosed, Straley said.
Lilly doesn’t have that kind of defective gene so the drug isn’t useful, but Straley said she believes it’s great progress.
“I think we just focus on trying to keep her healthy,” Straley said.
Despite the diagnosis, Straley said her family lives a normal life and hopes parents of Lilly’s friends don’t tell their children about her condition.
The Straley family did adapt to a few changes with Lilly’s daily schedule, including administering six different medications. Lilly also has lung treatments where she inhales medicine from a nebulizer and every time she eats she ingests enzyme capsules so her body can absorb the food.
“We’re fighting for tomorrow, she’s doing really, really well and we want to keep it that way,” Straley said. “We want her to treated as a normal kid.”
Learn more about Lilly's story at
http://fightcf.cff.org/site/TR?px=1579116&fr_id=2260&pg=personal
hy135010@ohiou.edu
@HannahMYang
