Hannah Buck, 6 and Hannah Moore, 2, both of St. Joseph, were diagnosed with cystic fibrosis, a chronic, progressive disease.
“Hannah is actually unaware of her prognosis,” said Vicki Buck, Hannah’s mother. “To her, it’s a pesky thing she lives with. My concern is how we deal with talking about the fact that it is life shortening, and we have to think about that.”
For two-year-old Hannah Moore, the realization that she’s different from other children won’t come for some time.
“She has to take medicine every time she eats, she takes breathing and physical therapy treatments twice a day, and she’s handling it fine,” said Sarah Moore, Hannah’s mom. “I don’t think she’ll know she has it until she’s in school and realizes everybody’s not taking those pills and everyone doesn’t have to stop playing and do their treatment.”
CF is a genetic disease that affects about 30,000 children and adults in the United States. Like most parents, the Bucks and the Moores could not find anyone with CF in their family’s past.
“Eighty percent of the time, people experience what we did,” Buck said. “They find out their child has CF, and they have no known cases in their family history. In some families, they have more than one child with CF. We have another daughter, and she tested negative for CF, but she could be a carrier. My husband and I are obviously carriers.”
Buck explains that it’s the luck of the draw when it comes to passing on an abnormal CF gene. CF occurs when children inherit two abnormal copies of the gene, one from each parent.
“One in 31 Americans is a symptom-less carrier,” she said. “If they started a family with another carrier, every child would have a one in four chance of having CF, a one in four chance of not having the CF gene, and a 50 percent chance of being a carrier.”
The disease has a number of symptoms. The most common is persistent coughing and breathing problems caused by the body’s production of thick, sticky mucus that clogs the lungs and harbors bacteria. The mucus also affects the pancreas, preventing enzymes from digesting food. Because of this, CF children are usually underweight.
Other symptoms are large, bulky stools from passing undigested food, pneumonia caused from bacteria in the lungs, and salty-tasting skin caused by a high concentration of sodium and chloride in the sweat glands.
“We’ve had several emergency room visits,” Buck said. “Hannah would get croup really bad to the point where she couldn’t breathe. When we would get to the ER, they would do an epinephrine breathing treatment, give her a steroid shot, and it would help.”
Last Memorial Day weekend, the Bucks took Hannah to the ER for breathing problems, and this time, the treatment didn’t help. Hannah was admitted for two days.
“The admission diagnosis was croup with underlying asthma,” Buck said. “Her physician is pretty thorough and very cautious, so when he discharged her he wanted her to see a pediatric pulmonologist, to make sure our treatment regime was appropriate.”
The appointment with the pulmonologist did not go the way Buck expected.
“We had a 10 o’clock appointment in Kalamazoo, and I assumed I’d be back at work by noon,” Buck said. “I was nave as to CF. He took the history, and some things I shared with him were classic signs and symptoms of CF. He sent us right away to Bronson Hospital for the sweat test, the definitive test for CF, and asked that we come back to his office. At 1 o’clock, they had the results and they were positive.
“It was devastating news, but we were lucky to find out,” Buck said. “A lot of people say it’s strange that she was six before she was diagnosed, but that happens often, that symptoms aren’t noticed until later.”
Brian and Sarah Moore found out there was a problem when Sarah was pregnant.
“There was some kind of anomaly on the ultrasound,” Sarah said. “We went to Bronson and they did special tests. The tests told us it could be three or four things. We knew (CF) was a possibility, but she wasn’t diagnosed until she was four months old.
“As soon as they diagnosed Hannah, she started taking enzyme pills with everything she eats which helps her body digest the food. We still battle the weight gain, but she’s holding her own.”
If undiagnosed, a number of things could happen.
“That sticky mucus harbors bacteria that can lead to a lung infection and inflammation,” Buck said. “It’s those repeated lung infections throughout life that eventually lead to the lungs to stop working. It’s better for us to know, even though it was really hard news for us to take.”
Fifty years ago, most children with CF died in early childhood. Today, because of advances in research, kids with CF have a good chance of reaching their 30s and beyond. At Case Western University in Cleveland, Ohio, gene therapy trials are progressing at an accelerated rate.
“The gene was only identified in 1989, which I think shows how the research in this area is snowballing,” Buck said. “There have been several different gene therapy trials since 1990, and the issue right now is to find the best delivery vehicle for the corrective gene. They are trying to not just cure it, but to alleviate the symptoms by finding new channels for the sodium and chloride to transfer through the cell wall, or to find the Achilles’ heel of the bacteria that ultimately destroys the lungs. They’ve mapped that also, and information is now at their fingertips.”
Both the Bucks and the Moores are living their lives as normally as possible while they wait for a cure.
“If it wasn’t life shortening, there are far heavier burdens that people have to bear,” Buck said. “All I’m asking is, let’s find a way to live with and manage it, and not have it be life-shortening.”