New Therapies, Healthy Choices Help Children with CF
James Acton, MD, likes to brag about his patients. Some compete in cross-country, wrestling, cheerleading and swimming. Others play a mean sax or trombone. One has beaten him in a local Halloween night fundraising race.
What makes these achievements noteworthy is that Dr. Acton directs the Cystic Fibrosis Center at Cincinnati Children's Hospital Medical Center. If his patients had lived a century earlier, they would have likely died as toddlers. Today, because of early diagnosis and aggressive treatment, most lead productive lives into their early 30s and beyond.
Stalking Genetic Clues
"Cystic fibrosis (CF) is the most common life-shortening inherited disease among Caucasians," says Dr. Acton. Both parents must carry the CF gene for children to inherit the disease.
Literature as far back as the Middle Ages contains references to children with a "salty taste when kissed" who were sickly and died as infants. CF as a disease condition wasn't characterized until the 1930s. With the discovery of antibiotics, it became possible to treat the chronic lung infections associated with CF, and the ability to replace digestive enzymes led to better nutrition and growth. In the past two decades, a clearer understanding of cystic fibrosis and new therapies continue to brighten the picture for children and adults with CF.
One of the biggest breakthroughs in treatment came in 1989, when researchers identified the gene that carries cystic fibrosis, then mapped over a thousand mutations that can lead to the disease and serve as targets for new therapies.
The CF gene creates defects in cells, most notably in the airways. Usually sodium and chloride flow from the inside to the outside of a cell, with water following to keep mucus thin and liquid.
"With cystic fibrosis, the 'pump' that lets the chloride out is broken, so the sodium and water can't get out either," explains Dr. Acton. "The mucus is thick, like mucus associated with a sinus infection."
Multi-Organ Impact
Although the respiratory tract is the most obvious system affected, the disease also causes other organs to operate inefficiently. Thick secretions block ducts in the gastrointestinal tract, so patients have trouble digesting food and ridding their bodies of waste. Complications include blocked bowels, constant diarrhea or overall poor nutrition because cells that make digestive enzymes get clogged.
The skin is affected when sweat gland cells don't transport chloride and water correctly. This means too much salt and water are lost in the sweat, putting patients at risk for dehydration and electrolyte (body salt) imbalance. As patients move into child-bearing years, many men and some women with CF have fertility problems because of scarring in the reproductive tract.
A Life-Long Care Plan
About 80 percent of CF patients are diagnosed by age 3 and 90 percent by age 10.
In some cases, the diagnosis comes at birth after CF screening tests. Recurring pneumonia, wheezing, coughs, allergies, poor weight gain, vitamin deficiency or chronic diarrhea can also be warning signs of CF.
"Once the diagnosis is made, we involve the patient and the family in decisions, along with the hospital care team," says Dr. Acton. (See "Parents, Patients Participate Actively in CF Care" below.) The goal of the team is to keep children "as healthy as possible for as long as possible." This demands daily commitment to good nutrition and healthy lungs.
Children with CF follow a diet high in calories and fats. They take vitamins to replenish the ones their bodies can't absorb and medications to aid digestion.
To prevent infection and inflammation of the lungs, once or twice a day patients must clear their airways. In the past, the only way to do this was for a therapist or another family member to clap them on their backs and chests. Today, patients with CF enjoy more independence in their therapies with hand-held "fluttering" devices and therapy vests, inflatable vests hooked to a compressor; both shake up airways, clearing them of mucus. Newer medicines also help. One commonly used medication, delivered through a nebulizer, is Pulmozyme", which breaks down DNA in the mucus, thinning it out for easier breathing and healthier lungs.
Dr. Acton acknowledges that children with cystic fibrosis have to work harder than their peers to stay healthy and active, but in the long run, it's worth it.
"If they set their priorities, monitor themselves and make thoughtful choices, children with CF should have the same expectations and same desires about developing and growing up normally as other children do."
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