Living With Cystic Fibrosis

Cystic Fibrosis is a genetic disorder that can affect several internal organs, including : liver, lungs, pancreas and intestine. The reason why it shows is the presence of mutations in the genes of cystic fibrosis transmembrane conductance regulator.

How to live with Cystic Fibrosis?

Inherited diseases are probably one of the most defeating aspects of modern medicine because there’s not much we can do but suppress the symptoms, and people are condemned to live with an illness they got by very unfortunate nature’s mistakes. Cystic fibrosis is the most common lethal genetic disease among white people caused by defected gene, resulting in multiple organ dysfunctions.

The basis of illness consists of a damaged function of exocrine glands due to flawed CFTR gene which codes chloride channels in the membrane of many epithelial cells. Simplified, it results in decreased secretion of chloride, increased absorption of sodium and water, causing various mucus in the body to be more viscous and harder to drain. Thick and dense mucus provide great base for bacterial infection and troubles clearing it leads to inflammation in many tissues.

What’s going on in the bodies of these patients?

Most patients are diagnosed in the neonatal period, at the age of 6-12 months. Some are diagnosed later because the severity of symptoms varies among patients.

Usually, the clinical presentation of illness via typical symptoms, genetic analyses, and positive sweat chloride test are enough to confirm the diagnose. In most countries nowadays, pediatric institutions provide the screening tests for newborns and prenatal testing is also available. The patients typically present with respiratory and digestive symptoms followed by various complications.

Thick and viscous mucus clogs the airways in lungs leading to troubles and problems with breathing, asthma – like symptoms, frequent pneumonia and finally – respiratory insufficiency, terminal state when lung transplantation is the only help. Digestive symptoms are caused by pancreatic enzyme insufficiently leading to steatorrhea, flatulence, intestinal obstruction and frequent stools, jaundice or bleeding in the digestive system. The kids fail to thrive despite a good appetite and healthy nutrition. These patients often have genital and urinary problems, including delayed sexual development.

Treatment options modern medicine offers at the moment

For decades, CF had very poor prognosis and patients hardly used to reach their puberty. Fortunately, modern treatments provided these people with a good care and the chance to live up to their fifties. The major goal is to maintain lung function as normal as possible, enable patients to breath spontaneously, protect them from infections, provide them with adequate nutrition and manage all the complications of the disease. The wide collection of medications is available, including surgical treatments, but the catch is to start the treatment as early as possible.

New hope for CF patients?

According to the results of recent research conducted by scientists at Queen’s University Belfast, there might be a future therapeutic opportunity available soon. They have found a new molecule with the potential to alter cellular ion channels, which could improve hydration of airways and increase mucus clearance. Administered to all patients, this therapy would protect them from frequent infections and manage symptoms more successfully than current approaches.

What can you do on your own?

Regular controls at your doctors are an obligation. Besides that, these patients should protect themselves from infection, especially respiratory infections, eat healthily and maintain good biorhythm. Smoking is forbidden due to already damaged lungs. Physical therapy and mild aerobic activity can help a lot, keeping the body healthy enough to fight disease.

The quality of life you can expect

Aside modern treatment, there are many specialty centers with health care teams that help patients with CF. These patients nowadays can have active lives, educate themselves, work, play sports, even have families and children.