Cystic fibrosis in babies

Cystic fibrosis in babies

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What is cystic fibrosis?

Cystic fibrosis (CF) is a life-threatening genetic disease. A child with CF has a faulty gene that affects the movement of sodium chloride (salt) in and out of certain cells.

The result is thick, heavy, sticky mucus; salty sweat; and thickened digestive juices. The thick mucus secretions can clog the lungs, making a child with CF very prone to breathing difficulties, lung infections (the mucus provides a rich environment for bacteria), and, eventually, severe lung damage. And when thickened digestive fluids from the child's pancreas can't get to the small intestine to break down and absorb nutrients from the food she eats, she may also have digestive and growth problems.

What are the signs and symptoms of cystic fibrosis in babies?

Fifteen to 20 percent of newborn babies with cystic fibrosis have something called meconium ileus at birth. This means their small intestine is obstructed with meconium, the seaweed-green substance that comes out in a baby's first poop. Sometimes the intestine will become twisted or not develop properly as a result. The meconium can also obstruct the large intestine, in which case the baby won't have a bowel movement for one or two days after birth.

Other babies with CF are fine at birth but then develop problems breathing or can't seem to put on weight in their first four to six weeks. Poor growth is one of the first signs of CF. Parents may also notice a nagging cough and wheezing.

Coughing and wheezing are hardly unique to children with CF, of course. These symptoms could be caused by viral bronchiolitis (an inflammation of the small breathing tubes), asthma, pneumonia, or even a dusty, smoky environment. Each of these conditions is far more common than any genetic disease.

Still, cystic fibrosis is the most common life-shortening genetic disease among people of Northern European descent. Other symptoms include salty skin, a big appetite with no weight gain, and large, greasy stools.

Sometimes the condition doesn't become apparent until a child has had a series of repeated lung infections or severe growth problems. If your baby has any of these symptoms, talk with his doctor.

Cystic fibrosis can't be cured. But there are new treatments that can not only prolong a child's life but may also help make that life more normal. And the earlier CF is diagnosed, the more effective those therapies will be.

How common is cystic fibrosis?

The chances of your baby having CF are about 1 in 3,000 if your baby is Caucasian, 1 in 9,000 if she's Hispanic, 1 in 11,000 if she's Native American, 1 in 15,000 if she's of African heritage, and 1 in 30,000 if she's Asian American.

Babies get cystic fibrosis when they inherit one defective CF gene from their mother and another from their father. (More than 10 million Americans carry the CF gene – most without knowing it.) Children with the disease are usually diagnosed before the age of 2, but about 10 percent of cases go undetected until adulthood.

How can I find out whether my baby has CF?

Newborn babies in the United States (and in many countries worldwide) are routinely tested for CF. A small spot of blood is taken from the baby's heel and tested for a protein that is higher in babies with CF. If the result is too high, a further test is done to look for the most common mutations that cause CF.

Newborn screening isn't 100 percent accurate. Rarely, a baby who has CF will be missed by this test. But more commonly a baby who does not have CF will be referred for a more definitive test (a sweat test) to make sure he doesn't have the disease.

If there's any reason to suspect that your baby might have CF – because of symptoms, a newborn screening test, or because you know it runs in the family – the doctor will perform a sweat test.

The sweat test is quick and painless: A drug called pilocarpine stimulates a spot on the arm to sweat. The doctor places a piece of filter paper on the area to absorb the sweat and then tests its sodium and chloride content. Higher-than-normal levels strongly suggest cystic fibrosis. A family history of CF and other tests, such as a chest X-ray and blood or saliva genetic tests, may add to the evidence.

Genetic testing can determine whether a couple planning a pregnancy needs to be concerned about cystic fibrosis. Both parents would have to be carriers of the CF gene for the baby to have a risk of being born with the disease. Most ob-gyns offer this testing to expectant parents. If the test comes back positive, the couple would be referred to a genetic counselor. However, there are several thousand DNA mutations that can cause CF, and most ob-gyns test for only the most common 30 or 40 of these. So it's possible to be told you aren't a CF carrier when in fact you are.

How is the disease treated?

Babies and children with cystic fibrosis need ongoing medical care. This is best provided at a specialized CF center with a team of doctors, nurses, and others who have expertise in the disease. Symptoms vary greatly from child to child, even when they are siblings with the same genetic defect. Often symptoms come and go – they may be relatively mild or frighteningly severe.

The vast majority of young children with CF can be treated as outpatients, but they need to be seen frequently to make sure the disease is being treated properly. At each visit a sputum (saliva or mucus) sample is taken to help determine which germs are causing lung infections. Occasionally, if symptoms flare up, the child has to be admitted to the hospital to get intravenous antibiotics.

If your baby has CF, she should receive routine childhood vaccines against such common illnesses as Hib and pertussis, as well as an annual flu shot (once she's six months old).

Most kids with CF are also given prescription medications, including antibiotics to treat infection, medicines that help break up mucus in the lungs, and drugs that reduce the inflammation that causes lung destruction. Each child responds best to a different combination of physical and drug therapies, and it's the job of the doctors and the parents to find the right mix. Parents play an important role by watching how their child responds to different drugs.

Researchers are working on other treatment options as well, including gene therapy (to replace the gene that causes the disease), drugs that help move salt in and out of the cells properly, and new drugs to prevent and treat infections.

To loosen mucus in your baby's lungs, the doctor will probably show you how to thump your baby's chest with a cupped hand. You may need to do this a couple of times each day for about 30 minutes each time. There are also electric devices – like a chest clapper and a vibrating vest – that can perform this task.

Because the disease usually gums up the pancreas, your baby will need help with her digestion as well. Without easy access to pancreatic enzymes, the small intestine has trouble breaking down food, especially fat, leaving children with CF undernourished and hungry. Much of what they eat passes through their body without being absorbed.

The doctor may decide that your baby needs to take a pancreatic enzyme supplement with every meal to help her body absorb the food she eats. (You'll need to open the capsule and mix the tiny beads with a little baby food.) You'll also want to encourage your baby to eat as frequently as possible and give her any nutritional supplements the doctor recommends.

Proper nutrition is vital because a child who is otherwise strong, healthy, and well nourished gives all the CF therapies a better chance to provide some relief. Your baby's doctor will determine exactly which supplements – and how much of them – your baby needs to take.

The good news is that, in many cases, babies with CF can grow to lead nearly normal lives, going to school with everyone else, playing on the playground, and being a kid, even if the adults around her are being more vigilant. The prospects for children with cystic fibrosis keep getting better: Several decades ago most babies with CF died by their teens. Today, the life expectancy of a child born with cystic fibrosis is about 37 years.

Where can I find more information about cystic fibrosis?

The universe of people with cystic fibrosis and their loved ones is large, well informed, and supportive. Here are some of the best websites to explore:

  • Visit the Cystic Fibrosis Foundation, a central clearinghouse for information, advocacy, and support.
  • For a current summary of research information, go to Cystic Fibrosis Research.
  • See an excellent source for new drugs now under investigation for CF therapy.
  • Share your concerns about your child's condition and trade tips with other parents at the Children With Cystic Fibrosis our site Community Group.

Watch the video: Newborn has Cystic Fibrosis (June 2022).


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