What is the disease called?

Cystic Fibrosis
What is the “scientific'' name (if there is any)?
N/a
Is it genetic?
Yes
Do we know what genes are affecting it?
Cystic Fibrosis Transmembrane Regulator (autosomal recessive). There are 900* mutations that
have been found. These mutations produce a dysfunctional CFTR protein, which regulates the
movement of chloride and other ions to the surface of the cell. Without these ions, water is not
attracted to the surface of the cell, which results in a thick, sticky mucus.
Are there any other factors that ‘cause’ the disease?
N/A
What are they?
N/A
Do they affect the severity of the disease?
Symptoms and severity of the disease differ wildly between patients.
Who gets this disease?
People who have 2 copies of the defective CFTR gene.
- 1 in 29 Caucasian-Americans
- 1 in 46 Hispanic-Americans
- 1 in 65 African-Americans
- 1 in 90 Asian-Americans
Do we have an estimate on the amount of people affected?
There are about 30,000 people in America with Cystic Fibrosis, and 70,000 worldwide. There are
approximately 1,000 new diagnosed cases per year.
Are there any treatments available?
Yes
What are they?
Airway Clearance- loosens thick mucus that can build up in the lungs. Typically done by wearing
a high-oscillation vest.
Inhaled Medications- opens airways or thin mucus. Liquid medications that are made into a mist
and then inhaled; typically include antibiotics to fight lung infections.
Pancreatic Enzyme Supplement- capsules to improve absorption of vital nutrients.
CFTR Modulators- target the underlying defective CFTR protein. However, medications are only
effective for people with specific mutations.
Individual Fitness Plan- Improves energy, lung function and health.
What is the cost?
The average is $15,571. Low end: $10,151. High end: $33,691. Lifetime: $306,332.
Are they easily acceptable?
Fairly.
What are the symptoms that we know of?
Salty-skin
Persistent coughing, often with phlegm
Frequent lung infections
Wheezing or shortness of breath
Poor growth or weight gain in spite of good appetite
Greasy, bulky stools or difficulty with bowel movements
Nasal polyps
Chronic sinus infections
Clubbing or enlargement of fingertips and toes
Rectal Prolapse
Male infertility
Life expectancy?
30 to 50 years
How long does it typically take to get an accurate diagnosis?
Around a couple of weeks within children. Most are diagnosed by the age of 2. Some people are
diagnosed in early adulthood.