Impacting less than 40,000 people in the U.S., Cystic Fibrosis (CF) is a disorder that primarily affects the lungs and intestines. That said, CF has been known to impact multiple organs, including the liver, spleen, esophagus, pancreas, nose, bones, and more.
The disease is most commonly associated with blocked airways, trapped germs, and a lack of necessary proteins. These three main issues can then lead to lung damage, increased infections, and malnutrition. CF has also been linked to other health problems that it may worsen. Arthritis, diabetes, and osteoporosis are just some of the conditions often associated with CF complications.
Simply put, its effects can be systemic.
But did you know that CF has a major genetic component? Depending on your parents and the genes you’ve inherited, you may be at significantly higher risk of developing the disease.
Let’s cover everything you need to know about your risk factors and what you can do if you’re diagnosed with CF.
In short, heredity. People with CF have issues with something called the CFTR gene, a piece of genetic material that produces the CFTR protein. Now, we all inherit copies of this gene, one from each parent. The problem, however, occurs when both copies have mutations in them. People with family histories of CF may be more likely to inherit two mutated copies.
Your doctor can refer you to a geneticist to be tested for mutations in your CFTR gene. Women who are pregnant or planning on getting pregnant can have what is called a ‘carrier screening’ to determine if they might be carrying the mutated gene. This is especially important if you have a family history of CF.
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Oftentimes, CF is detected through early screenings at birth. These screenings are part of normal newborn protocols, and will usually pick up on physical symptoms and signs. That said, not all babies show signs of CF. In certain cases, you might not start to show symptoms till you’re an adult.
These signs and symptoms include:
Now, these are just some of the more common symptoms. One of the most dependable ways to detect CF is through a sweat test. This non-invasive test takes a sample of the sweat and measures the amount of chloride. High chloride levels indicate a high likelihood of CF. In other words, the sweat is very salty.
When testing a baby, it’s best to have the test done as early as possible, before 4 weeks of age. It’s important to remember that high levels of chloride alone do not automatically mean an individual has CF. On the other hand, low levels do not necessarily rule out CF.
Genetic testing may also be used. Genetic tests are typically used to determine any carriers of the mutated CFTR gene. Although CF-free themselves, carriers can contribute to CF in their offspring. Blood, saliva, and cheek cells can all indicate the presence of CF.
As it turns out, ancestry plays a large role in CF. While it’s easy to oversimplify the causes of CF, there are actually more than 1,000 mutations linked to the disease. This means there are numerous ways that a person can possibly inherit the disorder. Although the vast majority of carrier testing may detect people with mutations, it is not foolproof.
As it turns out, Caucasians with European ancestry have the highest chance of being carriers. Hispanic Americans have the second highest, with African Americans and Asian Americans having the lowest likelihood.
Getting screened is probably one of the easiest things you can do to understand the likelihood of your child having CF. If both you and your partner have mutated copies of the CFTR gene, your child has a 25% chance of having CF.
Although a CF diagnosis may be difficult, you are not alone. There are many support networks across the world, and also many potential treatment options. Lifestyle is also absolutely critical.
Like with anyone, consistent exercise and a healthy diet can make a lot of difference. Meals rich in calories and fat are especially helpful, while supplementing with Vitamins A, B, C, and D can do wonders as well.
And don’t forget your minerals! Calcium, iron, zinc, and salt are highly important.
Your doctor can also prescribe various medications. These typically help with mucus build-up, infections, and restricted airways. With a comprehensive, guided approach, people suffering from CF can significantly improve their symptoms and enjoy fulfilling, healthy lives.
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