Singing Sisters with Cystic Fibrosis

Last night on America’s Got Talent, two sisters from Idaho Falls, Idaho, Christina (13) and Ali (20) showed that their diagnosis of cystic fibrosis was not going to keep them from singing out loud. The two sisters are in the “Top 48” and performed the song “God Bless the Broken Road”. At their initial audition, the sisters told the judges that doctors told them they would never be able to sing, but singing has become their passion, and they continue to sing despite the physical limitations cystic fibrosis has caused them. Before their performance, elder sister Ali told host Nick Canon: ” I know my knees will be shaking, but it’s so important to shoot for the stars and try to achieve your dreams.”


Click here to watch a video of their performance. Will the sisters move onto the next round? We’ll find out tonight.

Cystic Fibrosis (CF) is an inherited disease of the secretory glands- the glands that make mucus and sweat. CF affects the lungs, pancreas, liver, intestines, sinuses, and sex organs. A defect in a gene called  CFTR  causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of the body’s cells. In people who have CF, the gene makes a protein that doesn’t work right,  causing thick, sticky mucus and very salty sweat.



Overview (from The National Heart, Lung and Blood Institute)

Mucus is a substance made by the lining of some body tissues. Normally, mucus is a slippery, watery substance. It keeps the linings of certain organs moist and prevents them from drying out or getting infected. However, if you have CF, your mucus becomes thick and sticky.

The mucus builds up in your lungs and blocks your airways—the tubes that carry air in and out of your lungs. The buildup of mucus makes it easy for bacteria to grow. This leads to repeated, serious lung infections. Over time, these infections can severely damage your lungs.

The thick, sticky mucus also can block tubes, or ducts, in your pancreas. As a result, the digestive enzymes that your pancreas makes can’t reach your small intestine.

These enzymes help break down the food that you eat. Without them, your intestines can’t fully absorb fats and proteins. This can cause vitamin deficiency and malnutrition because nutrients leave your body unused. It also can cause bulky stools, intestinal gas, a swollen belly from severe constipation, and pain or discomfort.

CF also causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. This can upset the balance of minerals in your blood and cause a number of health problems. Examples include dehydration (a condition in which your body doesn’t have enough fluids), increased heart rate, tiredness, weakness, decreased blood pressure, heat stroke, and, rarely, death.

If you or your child has CF, you’re also at increased risk for diabetes or a bone-thinning condition called osteoporosis. CF also causes infertility in men, and it can make it harder for women to get pregnant.

Outlook

The symptoms and severity of CF vary from person to person. Some people who have CF have serious lung and digestive problems. Other people have more mild disease that doesn’t show up until they’re adolescents or adults.

The symptoms and severity of CF also vary over time. Sometimes, you will have few symptoms. Other times, your symptoms may become more severe. As the disease gets worse, you will have more severe symptoms more often.

Lung function often starts to decline in early childhood in people who have CF. Over time, permanent damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of death in people who have CF.

As treatments for CF continue to improve, so does life expectancy for those who have the disease. Today, some people who have CF are living into their forties, fifties, or older.

Early treatment for CF can improve both your quality of life and lifespan. Such early treatment includes nutritional and respiratory therapies, medicines, exercise, and other treatments.

Respiratory System Signs and Symptoms

People who have CF have thick, sticky mucus that builds up in their airways. This buildup of mucus makes it easier for bacteria to grow and cause infections. Infections can block the airways and cause frequent coughing that brings up thick sputum (spit) or mucus that’s sometimes bloody.

People who have CF tend to have lung infections caused by unusual germs that don’t respond to standard antibiotics. For example, lung infections due to bacteria called mucoid Pseudomonas are much more common in people who have CF. An infection caused by this bacteria may be a sign of CF.

People who have CF have frequent bouts of sinusitis, an infection of the air-filled spaces behind your eyes, nose, and forehead. Frequent bouts of bronchitis (bron-KI-tis) and pneumonia (nu-MO-ne-ah) also occur. These infections can cause long-term lung damage.

As CF gets worse, you may develop more serious complications, such as pneumothorax (noo-mo-THOR-aks), or collapsed lung; or bronchiectasis (brong-ke-EK-ta-sis).

Some people who have CF also develop nasal polyps (growths in the nose) that may require surgery.

Digestive System Signs and Symptoms

Mucus that blocks tubes, or ducts, in your pancreas and prevents enzymes from reaching your intestines causes most digestive system signs and symptoms.

Without these enzymes, your intestines can’t fully absorb fats and proteins. This can cause ongoing diarrhea or bulky, foul-smelling, greasy stools. Intestinal blockage also may occur, especially in newborns. Too much gas or severe constipation in the intestines may cause stomach pain and discomfort.

A hallmark of CF in children is poor weight gain and growth. These children are unable to get enough nutrients from their food due to the lack of enzymes to help absorb fats and proteins.

As CF gets worse, other complications may occur, such as:

  • Pancreatitis (PAN-kre-a-TI-tis). This is a condition in which the pancreas become inflamed, which causes pain.
  • Rectal prolapse. Frequent coughing or problems passing stools may cause rectal tissue from inside you to move out of your rectum
  • Liver disease due to inflamed or blocked bile ducts
  • Diabetes
  • Gallstones

Cystic fibrosis is a genetic disease. The most common cause is a single mutation in the CFTR gene. This most common mutation can be identified through direct-to-consumer genetic testing.  HOWEVER, these tests have what statistics experts call a “high false negative” factor because they don’t currently examine the many less common mutations in this gene. You MUST check with your doctor or genetic counselor before making decisions based on these tests!

For more information, click here to go to the Resounding Health Casebook on Cystic Fibrosis.

Mark Boguski, M.D., Ph.D. is on the faculty of Harvard Medical School and is a member of the Society for Participatory Medicine, "a movement in which networked patients shift from being mere passengers to responsible drivers of their health" and in which professional health care providers encourage "empowered patients" and value them as full partners in managing their health and wellness.

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