- 1 What is Cystic Fibrosis?
- 2 How Do You Know if Someone has Cystic Fibrosis?
- 3 What Causes Cystic Fibrosis?
- 4 Who is a Risk for Cystic Fibrosis?
- 5 Are There Complications from Cystic Fibrosis?
- 6 How Can a Doctor Tell if Someone Has Cystic Fibrosis?
- 7 Treating Cystic Fibrosis
You may have heard the term cystic fibrosis or know someone who has it and wonder about what it is. There are 30,000 people living in the United States with this disorder, 75% under the age of 18. 1,000 new cases come up every year in this country alone.
This article will take you through the basics about this disease, including what it is, what causes is — and how it is diagnosed and treated.
What is Cystic Fibrosis?
Cystic fibrosis is a disease that a baby inherits from its parents. It is a serious condition which damages the respiratory and digestive system and can lead to serious health problems as a child ages. However, the outlook for cystic fibrosis is improving: as of 2015, the life expectancy of someone with this condition is 40. Back in the 1950’s, however, kids with this condition rarely survived long enough to begin school.
How Do You Know if Someone has Cystic Fibrosis?
A person who has cystic fibrosis has some pretty definite signs and symptoms. Because of the nature of the problem, most of these symptoms are respiratory or digestive in nature. Keep in mind, though, that they can vary a lot from one person to another.
Digestive Signs and Symptoms
Someone with cystic fibrosis can have:
- Stools (poo) that appear greasy and have a bad smell
- Blockages of the intestines
- Severe, chronic constipation
- Difficulty gaining weight and growing as fast as other people of the same age
Respiratory Signs and Symptoms
Cystic fibrosis patients can have the following respiratory symptoms:
- Chronic cough
- Shortness of breath, especially with activity
- Thick sputum that can be hard to cough up
- Nasal congestion/swelling in the sinuses
- Frequent bouts of bronchitis or pneumonia
Salty-tasting skin is another common symptom of this disease.
What Causes Cystic Fibrosis?
In order to get cystic fibrosis, a child must inherit one gene for this disease from each parent. This mutated gene affects how salt is carried in and out of the cells. While this might not sound like a big deal, it is: it results in a thick, slimy mucus which clogs up the respiratory and digestive tracts and can do damage to important organs like the lungs and pancreas.
Who is a Risk for Cystic Fibrosis?
There are a few important risk factors for cystic fibrosis, including:
- Having both parents with the mutated gene for this condition
- Having a Northern European heritage
Are There Complications from Cystic Fibrosis?
Unfortunately, cystic fibrosis can lead to many problems, some of them very serious. These problems include:
- Nasal polyps, which form in the nose and can lead to feelings of sinus pressure and pain and make it easier to get sinus infections
- Bronchiectasis, a term which refers to permanent lung damage done by the disease; this can make it harder to move air in and out of the lungs
- Hemoptysis, or spitting up blood or blood sputum; this is especially common for teenagers and adults with this condition
- Respiratory failure, which happens when the lungs become so badly damaged they can no longer function
- Low levels of vitamins, mineral and proteins; this is because mucus can block important compounds from the pancreas that help the body to absorb these nutrients.
- Diabetes; this is because cystic fibrosis damages the pancreas and interferes with its ability to produce insulin, a hormone which keeps the blood sugar from getting too high.
- Liver damage and gallstones, due to mucus blocking the bile duct.
- Osteoporosis, a disease which thins the bones and makes them easy to break; this is because the body cannot absorb calcium and other minerals that are needed for healthy bones.
How Can a Doctor Tell if Someone Has Cystic Fibrosis?
The good news is that as of 2015, all 50 states in America screen newborns for cystic fibrosis. What this means is that all babies will be tested whether they have any signs or symptoms of the disease or not. A small blood sample will be taken and tested for the presence of immunoreactive trypsingogen (IRT), which is a measure of how well the pancreas is functioning. If the IRT comes back high, a sweat test (to look at sodium levels) and genetic testing will be performed.
Treating Cystic Fibrosis
Sadly, there is no cure for cystic fibrosis. However, kids who are born with this disease — and their families — have more choices for treatment than in the past. Treatment focuses in on:
- Making sure that mucus is cleared from the body
- Preventing respiratory infections
- Making sure the child is getting all the vitamins, minerals and other nutrients they need for growth
- Keeping the digestive tract from getting blocked so that bowel movements can be regular.
Treatment options include:
- Medications to treat infections, loosen mucus from the body to make it easier to get out of the body and open the airways.
- Pancreatic enzymes to make it easier for the body to digest food.
- Chest physical therapy, to loosen mucus
- Pulmonary rehab, a set of special exercises and therapies to help improve the way the lungs work
- Oxygen therapy, if a child is not getting enough oxygen on their own
- Surgery to remove nasal polyps and clear the nasal passages
- Surgery to help suction mucus from the body with an instrument called an endoscope
- Lung transplants if the lungs are too badly damaged; cystic fibrosis will not affect transplanted lungs
- Good nutrition with plenty of fiber to help reduce the chances of constipation and special vitamins to prevent low levels of mineral and vitamins
- Addition of extra salt in the diet
- Regular exercise
- Infection prevention measures like vaccinations, good hand-washing techniques and avoiding people who are ill with respiratory infections.
There has been exciting news recently for cystic fibrosis patients: in 2012 and again in 2015, the FDA approved two separate medications which target the specific genes which cause cystic fibrosis to begin with and which are expected to help people with this condition live even longer than they do now.
Cystic fibrosis is a serious condition. However, due to advances in medical treatment, the quality and length of life is better for patients with this disease — especially with the support and love from friends and family.