Definition
Cystic fibrosis, sometimes called CF, is an inherited disease that affects the secretions of certain glands in the body affecting mainly the sweat glands and glandular cells of the lungs and pancreas. CF can also affect the sinuses, liver, intestines, and reproductive organs. Children can only get CF if both parents are carriers of the gene that causes it.
Though much progress has been made in the treatment and symptom management of CF, there is still no cure. But, children living with CF are living longer, healthier lives thanks to the medical progress that has occurred.
Demographic
In the United States, the Caucasian population is the most common carrier of CF with 1 out of every 20 people being a carrier and 1 out of every 2,000 to 3,000 Caucasian babies being born with CF. The disease occurs much less in African Americans (1 out of 17,000), Hispanics (1 out of 11,500), and Asians (1 out of every 30,000). There are about 60,000 children and adults throughout the world that have been diagnosed with CF and around half of those are in North America.
Researchers were able to pinpoint the gene that causes CF in 1989 and genetic testing is now available for couples planning to have children to find out if they carry the CF gene.
Signs & Symptoms
Typically, CF is diagnosed within the first two years of a child’s life. Many states include mandatory testing for CF in newborn screenings. CF can even be diagnosed before a child is born with genetic testing or detection of an abnormality through ultrasound. If your child is failing to gain weight properly, your pediatrician may suspect CF. Other symptoms will vary depending on how involved your child’s lungs and other organs are.
CF causes mucus in the airways to be thicker than normal, which makes it harder to cough out. Because of this, repeated lung infections are the most common indicator that a child may have CF. Children with CF will likely have a lingering cough that worsens with colds and other respiratory illnesses. They are also more prone to developing pneumonia or bronchitis since the secretions in their airways stick around longer and are more likely to become infected. These repeated infections damage the lungs and are the major cause of death in CF patients. Other complications of CF can include diabetes and chronic liver disease.
Many children with CF are deficient in digestive enzymes, making it hard for them to digest fats and proteins. This leads to large, bulky, foul-smelling stools or loose stools, which can be one of the causes of a failure to gain weight.
Diagnosis
If your pediatrician suspects your child may have CF, they will order a sweat test to confirm the diagnosis. Children with CF have more salt in their sweat and will need two or more sweat tests to ensure an accurate diagnosis. If a CF diagnosis is confirmed, your pediatrician can help guide you to specialists who can give your child the support and treatment they need.
Treatment
The goal of CF treatment is to clear your child’s lungs of the thick secretions and help them cough up sputum more easily. There are various techniques available to achieve this, and each child’s treatment plan will be specific to them and the severity of their illness.
The accompanying lung infections should be treated with antibiotics, and exacerbated infections may require hospitalization and intravenous (IV) antibiotics.
Your child may also be prescribed enzyme capsules to take with every meal and snack, to treat a digestive enzyme deficiency. The amount needed is based on the level of fat in your child’s diet and their weight. Once the correct amount is figured out, your child’s stools will become more normal and they will begin gaining weight appropriately. They may also need supplemental vitamins to offset any deficiencies.
Emotional Impact
Many parents may feel guilty about their child’s CF diagnosis, since the disease is hereditary. But, CF is no one’s fault and there is no reason to blame yourself or anyone else.
Remember to raise your child as you would a “healthy” child- don’t put any limitations on their educational or career goals. Most children with CF can grow up to lead productive lives into adulthood. Your child needs your support and discipline, and should be encouraged to achieve their goals.
It’s hard to balance the physical and emotional effects of CF, so it is important to seek support from other families dealing with CF. Your pediatrician may be able to put you in touch with a local CF center or support group. The Cystic Fibrosis Foundation also exists to help families dealing with CF.