Cystic Fibrosis

Serious or Unimportant?

What it is?

An inherited life-threatening disorder that damages the lungs and the digestive system. Also known as CF, mucovoidosis, or micoviscidosis. Since it's a genetic disease, people with CF have inherited two copies of the defective CF genes-- one copy from each parent. Both parent must have at least one copy of the gene in order for you to have CF.


History

Cystic Fibrosis was first recognized over 400 years in Germany and it is the most common autosomal recessive disorder

Symptoms of Cystic Fibrosis

  • Very salty tasting skin
  • Persistent coughing
  • Frequent lung infections
  • Wheezing or shortness of breath
  • Male in fertility
  • Low bone density
  • Failure to gain weight

Causes of Cystic Fibrosis

A defect in the CFTR gene causes Cystic Fibrosis. This gene makes a protein that controls the movement of salt and water in and out of your body's cells.

How does it affects daily life?

Cystic Fibrosis affects everyone differently.


  • Daily treatment (Physiotherapy, oral and nebulised)
  • Feeding tube overnight
  • Very ill people need a wheelchair to get around
  • Extra oxygen to help them breathe

Diagnosis

Sadly, Cystic Fibrosis can't be cured, but treatment may help. Although some people doesn't recovered from the transplants. While others are still thriving 10 years on, but the statistics show that around 70% of those with CF survive for 5 years.


Treatment that might help:


  • Chest x-ray
  • Lung function tests
  • Spectrometer
  • Lung volume measurement
  • Pulse optometry
  • Mucus test


*It's good to diagnose cystic fibrosis early so you can treat symptoms and avoid problems.

Questions That You Should Ask The Doctor

1. How does cystic fibrosis affect the body?

A: Cystic fibrosis (CF) leads to the secretion of unusually thick, dehydrated, and sticky mucus in many tissues of the body, including the airways, pancreatic ducts, sweat ducts, sinuses, and bowels. Obstruction of the pancreatic ducts severely damages the pancreas, and reduces the body's ability to make the enzymes required to digest proteins and fat. Obstruction of the small airways of the lung results in the permanent dilation of these bronchi (bronchiectasis), and provides a site where certain infections can take hold. The thick and dehydrated mucus prevents the normal clearance of bacteria and other microbes from the lungs, and patients acquire chronic infections.


2. Which genes cause CF?


A: CF is a genetic disease caused by a mutation in a gene named the cystic fibrosis transmembrane conductance regulator (CFTR). There are approximately 1500 different CFTR mutations which can cause CF. The most common mutation is named ΔF508, and approximately two-thirds of all CFTR mutations worldwide are ΔF508. While having 2 copies (homozygote) of ΔF508 is associated with severe disease, many of the less common mutations are associated with less severe clinical symptoms.


3. How is CF inherited?


A: The inheritance pattern is autosomal recessive. This means that in order to have symptoms of CF, an individual must have two defective CFTR genes, by inheriting a copy of the CFTR gene from both mother and father.


4. Is there a way to tell if someone is a carrier?


A: People with a single CFTR mutation are termed carriers, and do not have symptoms of CF. Historically, it was determined someone was a carrier is if their child had CF. Now, genetic testing can reveal if someone is a carrier.


5. Does CF affect other major organs of the body besides the lungs?


A: Yes; one of the most commonly affected is the pancreas. Nearly 90% of people with CF lack the ability to produce sufficient enzymes from the pancreas that help with digestion.This condition greatly reduces the capacity to metabolize and absorb dietary fats and proteins. Carbohydrate absorption can also be impaired. Symptoms include greasy and foul-smelling diarrhea, abdominal pain, failure to gain weight, and malnutrition.


6. What's the life expectancy for someone with CF?


A: Historically, children with CF died as infants, and as recently as 1980 the median survival was less than 20 years. However, over the past 3 decades the lifespan of CF patients has risen dramatically, and in 2006 the median survival in the United States was 37.5 years.


7. Is physical exercise capable for someone with CF? Is it helpful or harmful?


A: Nearly always, aerobic exercise is helpful as an addition to other forms of airway clearance, loosening and getting rid of the mucus from the lungs.


8. What is the future of CF?


A: Improving therapies, combined with the availability of better diagnostic testing, has resulted in a steady increase in the average age of CF patients. Very soon, CF will be primarily a disease of adulthood, and increasingly patients with CF are surviving past middle age. While much attention has been focused on the process of adolescents with CF transitioning from the pediatric setting to adult programs within Care Centers, a similar process of transition will need to occur within the medical community, as increasingly adult physicians will be required to provide the majority of CF care. Older men and women with CF have unique healthcare needs, with complex infections, malignancies, and unique forms of diabetes and osteoporosis. Thus, the need for CF Centers with experience and commitment to adult care will continue to grow.


9. At what age it is affected?

A:

0-2

Rare


3-5

Rare



6-13

Rare



14-18

Rare



19-40

Rare



41-60

Very rare



60+

Very rare

Videos

What it is?

A mini video that tied up this website.
What is cystic fibrosis?

An athlete's story

See how Zack DeBaltzo deal with life while having Cystic Fibrosis.
Cystic Fibrosis: An Athlete’s Story

OneRepublic - I Lived

An inspirational song written for Children's Hospital Colorado and
Red Rocks Amphitheater, City & County of Denver!
OneRepublic - I Lived

Contact

CF Foundation

Their mission of the Cystic Fibrosis Foundation is to cure cystic fibrosis and to provide all people with the disease the opportunity to lead full, productive lives by funding research and drug development, promoting individualized treatment and ensuring access to high-quality, specialized care.

CF Foundation

Through the Cystic Fibrosis Foundation's efforts, the life expectancy of people with cystic fibrosis has doubled in the past 30 years and research to find a cure is more promising than ever.

Links