Genetic Disorders – Cystic Fibrosis

Cystic fibrosis is a disease that affects 30 thousand people just in the United States. Around the world, it is more than double of this number. It sounds like a big number, but despite what you might think, the disease is unknown by general people. On this article, we will show you the basics about cystic fibrosis, including the origins, symptoms, and some ways to live a longer life.

How do you get it?

Cystic Fibrosis is a disease that is transmitted from parents to children. The gene is present in more people than you think (around 10 million in the United States). However, that doesn’t mean they will develop the disease. What is needed is that the two parents have the cystic fibrosis gene. If that happens, the kids will inevitably develop the condition.
The disease is not contagious, but there is no cure. Science has several ways to control it so that patients suffering from cystic fibrosis have practically a normal life. The first years of life are the worse to endure. All cases are different, and each particular body reacts differently to the treatments. Nevertheless, recent studies and technological advancements have increased the living expectancy. This requires a constant routine to keep the body healthy at all times.

The Effects of Cystic Fibrosis

People who develop the cystic fibrosis condition have troubles with the mucus of all systems. This occurs due to misplace and lack of control of salt inside the body. It affects the respiratory and digestive system because a lot of mucus is gathered in this organs.
When mucus is accumulated in the respiratory system, the lungs are the most affected. This eventually clogs the regular breathing function. Also, the excessive mucus is the perfect ambiance for the accumulation of harmful agents. This makes patients with cystic fibrosis particularly vulnerable to infections and further complications.
If the mucus is accumulated at the digestive system, the problem is that the regular absorption of nutrients is turned upside down. The enzymes for digestion are not released as usual. This causes the pancreas and other organs to stop working, and it can lead to malnutrition.
In the end, patients with cystic fibrosis don’t die because of the disease itself, but for the complications caused by the mucus. It can also unchain other complications.

Symptoms and Diagnosis

The symptoms of a cystic fibrosis patient include:

• A cough with mucus.
• Bowel discomforts and movements.
• Bulk stools.
• Frequent lung issues, including infections, bronchitis, and pneumonia.
• Greasy.
• Poor weight (under average).
• Recurrent coughs.
• Salty skin.
• Short breath.
• Wheezing.

These symptoms are not the same for everyone. It all depends on the mutation of the gene each patient has. To confirm a cystic fibrosis, diagnose, a blood test is used. A genetic test can also confirm suspicious of cystic fibrosis. When any of these tests is positive, a confirmation is done with a sweat test to measure the amount of salt. Most people are diagnosed at an early age, usually before turning 2.

For future parents, the only way to prevent is to check if both parents have the gene. The test is 90% accurate and can detect if there are chances of having children with the disease.

The Average Life of a Patient with Cystic Fibrosis

Last century, a patient with cystic fibrosis died at a young age. Few made it to adulthood. However, the new treatments and the way doctors understand the disease today are very promising. Half the people diagnosed with cystic fibrosis live to the age of 18. From there, it depends on their lifestyle. The oldest diagnosed person with cystic fibrosis lived up to 40 years. That is half the expected life of a healthy person, but much more than life expectancy just 40 decades ago.

Treatment

Depending on the symptoms, the treatment changes. A personalized treatment gives the person better chances to control the effects of the cystic fibrosis condition. Some of the most common treatments include:

• A regular cleanse the airway for a better breathing (usually daily).
• Medicine to open the airways and eliminate mucus.
• Nutritional supplements to improve the absorption of nutrients.

All these measures are meant to control the unwanted effects of the extra mucus. However, none of them targets the root cause of the problem.

The New Wave Treatments

Just recently (2012) new drugs have been approved to be used in cystic fibrosis patients. It is a promising way to treat the disease from a different perspective. It targets the root cause, fixing the deficiencies in the production of the proteins that are missing, causing the excessive mucus effect.
It is yet to be known how much time these sort of treatments will add to the life of patients suffering cystic fibrosis. It is expected to be some decades.

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Categories: Other

Tags: Bronchitis, Cystic Fibrosis, Genetic Disorders, Pneumonia

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