Medical Advances Help Cystic Fibrosis Patients
More Money for Research is Still Needed to Find a Cure for CF
Apr 1, 2009
Forty years ago, most CF patients died by the age of 4 or 5. But since then, more sophisticated treatments have allowed many patients to survive past 18, with some living twice that. Double lung transplants have added even more years to the lives of CF patients, but transplants are not a cure.
What is Cystic Fibrosis?
Cystic fibrosis is an inherited disease that causes the lungs to fill with thick, heavy mucus that hinders normal lung function. A person with CF needs to undergo rigorous physical exercises designed to loosen the mucus and have his or her lungs suctioned free of the deadly gunk twice a day. The mucus often results in a buildup of bacteria that cause repeated lung infections, causing further damage.
In most patients, CF also causes thick mucus to block the pancreatic ducts, preventing the release of digestive enzymes. Patients must take 20 or 30 pills every day to enable their bodies to digest and absorb food.
As the patient grows older, lung function deteriorates. Treatment becomes less effective. The patient becomes weaker and weaker, and needs to use oxygen more often. Weight decreases to the point of emaciation. Other problems such as arthritis, diabetes and liver disease can develop. At this stage, only a successful double lung transplant will save the person’s life.
However, even a successful transplant is not a cure. Anti-rejection drugs are taken for life. And, since CF is genetic, the patient still has the disease. Eventually, whether five years or 25 years later, the new lungs may fail, too, from rejection or chronic bacterial infections.
How CF is Inherited
Cystic fibrosis is caused by any one of over 1,500 possible mutations in one specific gene. People who inherit one copy of the mutated gene will never get the disease. If they marry a non-carrier, none of their children will get the disease, although each child has a 25 per cent chance of being a carrier.
But if a carrier marries another CF carrier, every child they produce together has a 25 per cent chance of not inheriting the gene at all, a 50 per cent chance of being a carrier but not affected, and a 25 per cent chance of being affected with CF. The odds are the same for every child they have.
The gene that causes CF was identified by researchers in Ontario in 1989, so now parents can be tested to see if they both carry the mutated form. If they do and they are expecting a baby, a test of the embryonic fluid can determine if the fetus will have the disease. In Canada, one child out of every 3,600 births will be diagnosed with cystic fibrosis.
Not everyone gets a genetic test done, especially if the family has no known history of CF. If the disease is suspected, testing can determine if a child or adult has CF. Most are diagnosed by age 10, but a few people who are less severely affected are diagnosed later. Common symptoms of CF include a persistent cough, wheezing, difficulty breathing and a large appetite with no weight gain.
New Advances in CF Research
Through financial contributions, research is advancing quickly. It is 10 years since the first genetic breakthrough was made and 26 years since the first double-lung transplant. Every year, new ways to treat the constant lung infections are being discovered.
In February 2009, researchers in the United States announced the discovery of a gene that can reduce the activity of white blood cells called neutrofils. Neutrofils are important to fight infection, but in CF patients, neutrofils overreact, causing inflammation. Further evidence was announced in March 2009 that these overactive cells release enzymes that actually destroy lung fibre, while neutrofils in non-CF patients do not. These discoveries offer a new line of investigation for treating CF.
How You Can Help Cystic Fibrosis Patients
Sign your organ donor card! There are many more patients waiting for transplant than there are organs. Tell your family that, when you die, your organs should be harvested to save someone else’s life.
Support fundraisers and donate to your local or national Cystic Fibrosis Foundation. Every dollar raised is one step closer to finding a cure for CF.
Sources
Canadian Cystic Fibrosis Foundation
U.S. National Library of Medicine and the National Institutes of Health on-line at Medline Plus
