Cystic Fibrosis is a genetic disease that affects approximately 1 in every 3,600 children in Canada (3500 people), and 1 in every 3,300 people in the United States (30,000 people). It affects 70,000 people worldwide. It is the most common genetic disease affecting the general population, and it can be fatal.
Cystic Fibrosis Facts
CF usually affects the lungs and the digestive system. A defective gene and the protein product it produces allows thick, sticky mucus to build up in the lungs. This mucus clogs the lungs and obstructs the pancreas and "stops natural enzymes from helping the body break down and absorb food." (www.cff.org) When the mucus builds up in the lungs it becomes breeding ground for bacteria and if the mucus is not cleared out, the build up of bacteria can lead to cycles of infection and inflammation, which in turn damage delicate lung tissues.
Cystic Fibrosis can also affect the liver, urinary tract, reproductive organs, and sweat glands.
Cystic Fibrosis was first diagnosed in the 1930s and was usually determined only after a child had died of pneumonia and malnutrition. Only 50 years ago, many children born with CF died before they even reached elementary school. Now, many people with CF live into their 30s and 40s.
Approximately 1 in every 25 Canadians and approximately 12 million Americans carry the CF gene. For a baby to be born with Cystic Fibrosis, he/she needs to receive two CF genes - one from the mother, one from the father. If only one parent is a carrier, then the "carrier gene" only will be passed on to the child. A couple who are both carriers have a 25% chance of having a baby with Cystic Fibrosis, a 50% chance of a baby that will not have CF, but will be a carrier, and a 25% chance that the child will not have CF and will not be a carrier.
Signs and Symptoms of Cystic Fibrosis
Some of the more common symptoms of CF include:
- skin that tastes very salty
- a persistent cough, usually producing this mucus
- extreme appetite, but no weight gain
- frequent lung infections (pneumonia)
- shortness of breath or wheezing
- frequent greasy, bulky stools or difficulty bowel movements
The generation of the mucus occurs because the body's ability to deal with bodily fluids and process salt is unbalanced. That's why skin will taste extremely salty or bowel movements will be difficult.
Living with Cystic Fibrosis
To keep the mucus from building up and decreasing the possibility of infections and disruption of bodily functions, families need to engage in a rigorous and regimental course of medications and treatments. The types of medications and treatments used and the amounts in which these are used are determined by the needs and severity of the case in each individual patient.
Typical at-home treatments include:
- tapping or "clapping" the chest and the back, a positive expiratory pressure mask (PEP) or other chest physiotherapy with an aid toward loosening the mucus that clogs the lungs
- taking enzymes with every meal to take over the role of the pancreas in digestion
- nutritional supplements and vitamins to ensure that each patient is getting all the nutrients they need
- taking antibiotics via pill, intravenous (IV), and/or inhalers to ease congestion and protect and fight against lung infection
- exercise
Administered medications may involve:
- mucus thinners - drugs that will reduce the thickness of the mucus so it is easier to cough up
- antibiotics - drugs that will kill or impede the growth of bacteria
- anti-inflammatories - drugs like ibuprofen, will reduce the swelling or inflammation of the tissues in the body, including the lungs, with the hope of reducing the damage to the lungs
- bronchodilators - drugs that open the airways to make it easier to breathe.
There is currently no known cure for CF, so all these treatments and any medications are administered to help improve the quality of life and lifespan of a person with CF.
The ultimate treatment is a lung transplant, but as lung transplant donors are very rare, prolonging a person's life and improving their quality of life so they can have more productive years is the main hope of treatment.
Developments and Research
Research, tests, and trials continue on several fronts:
Gene Therapy - It is hoped that adding normal copies of the gene to cells could correct the defective gene that causes the disease. The current approach is to introduce the normal copies of the gene into the airway of a person with CF.
CFTR Modulation - The goal of this therapy is to correct the defective CFTR protein made by the CF gene, which would allow chloride and salt to pass properly through cells in the body.
Restoring Airways - Various drug companies all over the world are looking at different drug therapies that would change the way a CF sufferer's body processes salt, which would keep mucus hydrated for easier clearing out.
Mucus Alteration - The goal of this therapy is to prevent the develop of mucus, and to thin and help clear out the thick mucus from the airways.
Anti-inflammatories - We've already heard about how anti-inflammatories are used to help decrease the damaged cause to tissues by CF, but research continues to discover just how anti-inflammatories work, which ones work better than others, and potential side effects of long-term use.
Anti-infectives - These are drugs that work to reducing and fighting off acute an chronic lung infection by destroying bacteria.
These methods are in addition to improvements in transplantation maintenance and nutrition.
It is hoped that as research continues into the causes and genetic details surrounding CF that a cure will be found.
Sources: www.cysticfibrosis.ca; www.cff.org; www.intelihealth.com