Late diagnosis
Nowadays, most people with CF are diagnosed following newborn screening. However, sometimes the condition may not be diagnosed until later in life.
Since newborn screening was introduced nationally in 2007, most cases of CF are now diagnosed shortly after birth but sometimes the condition may not be diagnosed until later in life.
What are the reasons for late diagnosis?
There are several reasons that could explain why a person with CF was not diagnosed earlier.
- The CF gene was not identified until 1989, and until that time tests used to confirm diagnosis were not so reliable. If a person was born before 1989 it may have been harder for their condition to be diagnosed.
- The faulty gene that causes CF can be faulty in many different ways. In fact, there are now known to be more than 2,000 mutations that cause cystic fibrosis. If someone has a very rare mutation it may be harder to diagnose.
- Cystic fibrosis can vary widely in its severity and symptoms, and can mimic other lung diseases such as asthma or bronchitis, making diagnosis challenging.
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How is CF diagnosed?
There are three main types of screening for cystic fibrosis: carrier testing, newborn screening and antenatal testing.
How is cystic fibrosis treated?
Thanks to breakthroughs in medication, physiotherapy and other treatments, people with cystic fibrosis (CF) are living longer and healthier lives than ever before.
Here to help
If you’re struggling with any aspect of cystic fibrosis, we’re here to help. Contact our Helpline for support, a listening ear or just someone to talk to.