Cystic Fibrosis is a genetic disorder (birth defect) which primarily affects the lungs and the digestive system. This condition results when a child inherits a mutated "CF gene" from both of their parents, who must either be carriers (having only one mutated "CF gene") or have the condition themselves. Cystic Fibrosis is chiefly characterized by an overabundance of mucus, which can clog up the lungs, lead to infections, and create difficulties with digestion and growth. Cystic Fibrosis is something that can usually be identified in advance with prenatal testing.What is Cystic Fibrosis?
Cystic Fibrosis occurs whenever someone inherits the "CF gene" from both of their parents. As this is a recessive disease, if only one gene is present then that person is a "carrier" but will not experience the symptoms of this condition. If your child does have this condition, then certain aspects of their body's cell regulation will not function as usual, leading to adverse symptoms. In particular, the regular movement of salt throughout the body and cells is inhibited, leading to a harmful build-up of mucus in your child's organ systems, most usually the lungs and digestive tract.What are the Symptoms of Cystic Fibrosis?
The severity and occurrence of symptoms may differ wildly from person to person. They typically manifest in either the lungs or the digestive tract. However, there are some other, general symptoms which are important to look out for.
When mucus builds up in the lungs, the tubes which normally allow the free flow of air become blocked, and this can create difficulties with breathing. As a result, persistent coughing with thick mucus or shortness of breath may result. These symptoms can also be accompanied by breathlessness, an intolerance for exercise, or a stuffed-up nose. The buildup of mucus can also lead to frequent lung infections, including pneumonia or bronchitis. Other complications may include damaged airways (bronchiectasis), growths in the nose (nasal polyps), coughing up blood, and gradual respiratory failure over time.
As for the digestive system, the build-up of mucus can block the passageway which transports digestive enzymes from the pancreas to the small intestine. As a result, limited growth or weight gain despite a good appetite is a prominent symptom of Cystic Fibrosis, due to inadequate nutritional absorption. Other issues - such as severe constipation or especially greasy or foul-smelling stools - can arise. In newborns, it is also important to keep an eye out for intestinal blockage or rectal prolapse, as these may also be a sign of Cystic Fibrosis. Due to the blockage of the passageway from the pancreas, the transport of insulin may also be blocked which can lead to the development of diabetes as a complication. Furthermore, the tube that carries bile from the liver and gallbladder to the small intestine can also become blocked and inflamed, which may lead to liver problems or gallstones.
These are some other symptoms which may arise from Cystic Fibrosis, most notably increased levels of salt in sweat and the skin. Other potential complications to be aware of include bone-thinning (osteoperosis) and electrolyte imbalances in the blood, which can result in dehydration, fatigue, weakness, low blood pressure, and an increased heart rate. And finally, issues with the reproductive system can arise which impair fertility - especially in men.How is Cystic Fibrosis Diagnosed?
Today, most children in the United States are now screened for Cystic Fibrosis at birth, as screenings are performed in every state. Although this screening will not always catch Cystic Fibrosis, it is an important first step and can detect the disease even if your child is pre-symptomatic. If your child is showing some of the symptoms of Cystic Fibrosis, your doctor should recognize this during a clinical evaluation and order additional testing - such as a sweat test and a genetic test - to confirm the diagnosis. Through the combination of these procedures, most cases of Cystic Fibrosis are diagnosed by age 2.
Unfortunately, Cystic Fibrosis may be misrecognized and could lead to the condition being misdiagnosed as something else such as asthma, or symptoms such as pneumonia may be accurately diagnosed without recognition of the underlying cause.What are the Treatments for Cystic Fibrosis?
Unfortunately there is no medical "cure" for Cystic Fibrosis. Although no cures for Cystic Fibrosis are known, treatments which have been developed in the last century are capable of maximizing organ function and helping to protect against life-threatening complications. The most beneficial therapies for your child should be determined by their physician based on their unique needs. The majority - but not all - of these therapies are typically administered daily.
For the Digestive System:
- Enzyme pills administered with/before meals can help the body improve absorption of key nutrients during digestion
- Multivitamins also help ensure adequate nutrition
- For Cystic Fibrosis-related diabetes, a typical treatment regimen should also be prescribed
For the Lungs:
- Airway Clearance: There are multiple methods which can help clear up the airways of your child's lungs to help them breathe. Some of the most common methods include physical therapy and a machine-connected vest which shakes (usually for 30 min/day) to loosen up the mucus.
- Medication: There are a variety of potential medicines which can help with lung health as well. Some of these are inhaled medications which can help clear up airways and thin mucus; these may also include antibiotics to help reduce the chance of infection. Antibiotics may also be provided independently, and anti-inflammatory drugs can also help limit the progression of the disease.
- In certain cases, lung transplants may be necessary - however the above daily therapies are typically proscribed to minimize the chances that surgery is needed.
Other treatments include:
- A personalized fitness plan, which can help improve lung function, energy, and overall health
- CFTR modulators - these are drugs specifically designed to target the CF gene, but are limited in applicability as they only work for specific mutations
- Fertility treatments and surgical procedures can sometimes enable men with Cystic Fibrosis to become biological fathers