WHAT IS CYSTIC FIBROSIS?
Cystic fibrosis (CF) is a life-threatening genetic disease that primarily affects the lungs and digestive system. An estimated 30,000 children and adults in the United States (70,000 worldwide) have CF.
In people with CF, a defective gene and its protein product cause the body to produce unusually thick, sticky mucus that:
• Clogs the lungs and leads to life-threatening lung infections.
• Obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb vital nutrients.
In the 1950s, few children with CF lived to attend elementary school. Since then, tremendous progress in understanding and treating CF has led to dramatic improvements in the length and quality of life for those with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.
+ What are the symptoms of CF?
• Very salty-tasting skin
• Persistent coughing, at times with phlegm
• Frequent lung infections, such as pneumonia or bronchitis
• Wheezing or shortness of breath
• Poor growth or poor weight gain in spite of a good appetite
• Frequent greasy, bulky stools or difficulty in bowel movements
• Small, fleshy growths in the nose, called nasal polyps
CF is caused by mutations in a gene that produces a protein, called CFTR. The CFTR protein controls the flow of salt and water in and out of the cells of organs like the lungs and pancreas.
To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease themselves. Each time two CF carriers have a child, the chances are:
• 25 percent (1 in 4) the child will have CF
• 50 percent (1 in 2) the child will be a carrier but will not have CF
• 25 percent (1 in 4) the child will not be a carrier and will not have CF
There are more than 1,800 known mutations of the CF gene. Because there are so many, most genetic tests only screen for the most common mutations.
A doctor who sees the symptoms of CF will order a sweat test or a genetic test to confirm the diagnosis.
CF is usually diagnosed by conducting a sweat test, which measures the amount of salt in a person’s sweat. A mild chemical and a small amount of electricity are placed on the skin (usually on the arm) to stimulate the sweat glands. Sweat is then collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride means that the person has cystic fibrosis. The sweat test is painless.
The best place to receive a reliable sweat test is at a Cystic Fibrosis Foundation-accredited care center.
In a genetic test, a blood sample or cells from the inside of the cheek are taken and sent to a laboratory that specializes in genetic testing. A genetic test is often used to confirm a diagnosis of CF if the results of a sweat test are not clear, but genetic testing is mostly used to find out if a person is a CF carrier.
Because the type and severity of CF symptoms can differ widely from person to person, there is no typical treatment plan for people with the disease. CF Foundation-accredited care centers work closely with people with CF and their families to create individualized treatment plans.
However, each day, most people with CF typically:
• Do some form of airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.
• Take inhaled medicines — liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.
• Take pancreatic enzyme supplement capsules with every meal and most snacks to improve absorption of vital nutrients. People with CF also usually take multivitamins.
The CF Foundation supports research to discover and develop new CF treatments, and maintains a pipeline of potential therapies that target the disease from every angle.
The most recent drug approved for CF, Kalydeco™ (ivacaftor), treats the underlying cause of CF in a small group with a specific mutation of the CF gene. All other CF therapies available today treat the symptoms of CF.
Work is ongoing to find additional CF therapies that could help improve key symptoms of the disease by targeting the disease at its root.
The CF Foundation Patient Registry collects information on the health of the more than 27,000 people treated at CF Foundation-accredited care centers. According to the most recent Patient Registry data, the median predicted age of survival for people with CF is in the early 40s. Median predicted age of survival is the age by which half of the people tracked in the Patient Registry would be expected to survive, given the ages of the patients in the Registry and the distribution of deaths in a particular year.
In the 1950s, children with CF were not expected to live long enough to attend elementary school. Today, approximately half of all people with CF in the United States are 18 years or older. The steady “aging” of the CF population reflects the remarkable progress that has been made in understanding and treating CF. Thanks to CF Foundation-supported research and care, an increasing number of people with CF are living well into adulthood and leading healthy lives, pursuing careers, getting married and having children of their own.
In 2012, the U.S. Food and Drug Administration approved Kalydeco™ (ivacaftor) — the first drug to treat the underlying cause of CF in a small group of people with a specific mutation of the CF gene. In 2014, Kalydeco was approved for people ages 6 and older who have eight additional CF mutations.
It is too early say whether Kalydeco will be an actual cure for those who are taking it. However, the drug has shown that it is possible to target the defective CFTR protein that causes CF and improve key symptoms of the disease. Kalydeco is now being studied in combination with other potential therapies to treat people with the most common CF mutation.
Kalydeco also offers a roadmap that could help advance the discovery and development of more lifesaving therapies for all people with CF. The CF Foundation continues to support cutting-edge research to address the root cause of CF, and maintains a robust pipeline of potential therapies targeting the disease from every angle. Research to find a cure for CF has never been more promising.
In people with CF, the protein is defective and the salt balance in the body is disturbed. Because there is too little salt and water on the outside of the cells, the thin layer of mucus that helps keep the lungs free of bacteria becomes very thick and difficult to cough out. This thick mucus then clogs the airways and, without treatment, can lead to inflammation and infections that damage the lungs.
While a transplant does give a person with CF a new set of lungs, the rest of the cells in the body still have CF and may already be damaged by the disease. There is also the risk that the body will reject the transplanted lungs, and the drugs that help prevent organ rejection may cause additional health problems.
Lung transplantations are serious and difficult procedures. But the growing success rate makes lung transplantation an important treatment option for some people with CF who have severe lung disease.
Scientists are currently exploring the use of gene therapy for many diseases, including CF, but have had little success. It has been very hard to find a safe and reliable way to deliver healthy genes into the body. Like all medicines, gene therapy must be shown to be safe and effective before it can be approved as a treatment.
WATCH NATHAN’S CF STORY // 43:38
The Gospel is all about adoption. God has adopted us into His family, Joseph adopted Jesus into his family, and now we continue the story of adoption, redemption, and love in our own family. As a result of Nathan’s disease, we are unable to have our own children. Through the means of adoption, God has been able to bring two beautiful gifts to our home.
In the fall of 2010 we adopted our first daughter, Lydia, from the Alaskan foster system. She is an absolutely gorgeous and “cheeky” Tlingit and Iñupiat Alaskan. Her passive-intellectual humor and her determined personality always keeps us on our toes.
In early 2011 we also finalized the adoption of our second daughter, Arianna, through a private agency. She is a beautiful, feisty bundle of energy with a personality to match.
Both girls are absolute miracles and nothing less than gifts from our Heavenly Father. We are blessed to have them in our lives.