What it is
A child has CF when they inherit a faulty CFTR gene from both parents, who are usually healthy carriers.
Daily physiotherapy, enzyme capsules, nutrition support and antibiotics are long-standing treatments. Newer modulator medicines that target the faulty protein have greatly improved health and life expectancy for many people.
Common signs
- A persistent cough with thick mucus
- Repeated chest infections
- Poor weight gain or growth
- Greasy, bulky stools
- Salty-tasting skin
How it is usually diagnosed
- Newborn heel prick screening
- Sweat test
- Genetic testing
Records worth keeping
Keeping these together makes each appointment easier, especially when you see a new doctor:
- Sweat test and genetic results
- Lung function (FEV1) results over time
- Sputum culture results
- Your treatment plan, including modulator medicine
- Annual review reports
Questions to ask your doctor
- Which gene changes do I have, and am I eligible for a modulator?
- How is my lung function changing?
- What does this mean for having children?
When to get help right away
Call 112 or go to the nearest emergency department if you have:
- Coughing up a lot of blood, sudden chest pain and breathlessness, or severe tummy pain with vomiting: call 112
This page is general information. It is not a diagnosis and does not replace a doctor who knows your history. Medfold keeps your records organised; it does not interpret them.