A child or young adult is at risk when they have two cystic fibrosis genes, one gene from each parent. In a person’s DNA, or inherited genetic system, there are 23 pairs of chromosomes. The gene that causes cystic fibrosis is located on the 7th chromosome. A baby born with only one cystic fibrosis gene and not a pair is only a carrier of the disease. Carriers do not show symptoms of cystic fibrosis, but can pass the genes and the disease to their children. There are an estimated 12 million carriers within the United States. When two of these carriers have a baby together, the baby has a one in four chance of developing cystic fibrosis.
Over time, about 1,200 cystic fibrosis mutations have evolved. Some of these mutations can cause milder forms of cystic fibrosis with milder symptoms as well. The mutant CF gene called Delta F508 is found in about 70 percent of people with the disease. It can be detected through genetic testing on adults before they start a family, during pregnancy, or after a child is born.
Caucasians are at the highest risk of having cystic fibrosis while Asian-Americans are at the lowest risk. Almost 1 out of 3,600 Caucasian children has cystic fibrosis. The disease does, however, affect every ethnic group and people from around the world.
Getting a Diagnosis
When it is believed that a child might have cystic fibrosis, a pediatrician will likely perform a sweat chloride test. This test measures how much chloride is present in the child’s sweat. If a child does have cystic fibrosis, the chloride level is usually above 60 mEq/L. There are also borderline levels in which further testing will be considered.
There is also DNA testing, which tells if there are two cystic fibrosis gene mutations present in the body. DNA testing is not 100 percent accurate because there are still many mutations that are unknown. So, DNA testing alone can fail in about 10 to 20 percent of cases. Another method is to diagnose cystic fibrosis either prenatally or with a newborn screen. In a newborn screen, the levels of immunoreactive trypsinogen are measured. These levels will be elevated above normal if the child has cystic fibrosis.
Treatment for Cystic Fibrosis
There are many aspects to treating cystic fibrosis. Treatments often include – but are not limited to – vitamin and mineral supplements, nutritional therapy, replacement of pancreatic enzymes, chest physical therapy, pulmonary therapy, the use of aerosol medications, and antibiotics.
Awareness of Cystic Fibrosis
Cystic fibrosis awareness is increasing as more research is being done to help develop a cure or to find more successful treatment methods. Through cystic fibrosis support groups, patients and/or their parents are able to find advice and help from others who have been through the same trials and difficulties while battling CF. Also, the scientific advances toward gene therapy offer hope to be able to repair the CF gene that causes the disease someday.
Cystic fibrosis seems to be a “silent” disease. One might not ever know if a child or person sitting next to them has the disease. But the reality is that cystic fibrosis can be a devastating disease that affects everyone in the family. Those with a loved one that has been diagnosed can help by learning all they can about the disease and possible treatments.