What is Cystic Fibrosis (CF)
CF is a complex inherited condition that you are born with. The impact of CF can vary from one person to another. Due to a defect in the CFTR protein at cell surfaces people with CF experience a build up of thick sticky mucus in the lungs, digestive system and other organs causing a wide range of challenging symptoms affecting the entire body.
Genetics
People with CF have two copies of the defective gene, one inherited from each parent. Approximately 1 in 19 Irish people carry a defective gene. Carriers are unaffected but if two carriers have a defective gene there is a:
25% chance their child will have CF,
25% chance their child will not have CF,
50% chance their child will be a carrier.
Carrier testing is available to adults over the age of 16 where there is a family history of CF.
This entails a blood sample which is sent to the Genetics lab in Crumlin. Wait time for results is 14-16 weeks. This test can be co-ordinated through the CF Nurses or your GP.
Please click here to be brought to the Crumlin Genetics Analysis Form.
Diagnosis
In Ireland since 2011 all newborn babies are tested for CF as part of the existing newborn heel prick test. If the results indicate a baby is at increased risk of CF a sweat test is co -ordinated. If two mutation are identified with a positive sweat test CF is diagnosed. Click here to watch a short video on how a sweat test is performed. Some people with CF are diagnosed as adults. After a clinical evaluation if CF is suspected a sweat test and genetic testing will be performed to confirm diagnosis.
CF Care
CF management is under the remit of a multidisciplinary team (MDT) focusing on pulmonary exacerbation avoidance and screening of extra pulmonary manifestations in an increasing aged population. The CF MDT is made up of a lead clinician traditionally with a respiratory background, dedicated clinical nurse specialists, a dedicated physiotherapist, and a dedicated dietitian, with the support of additional medical input from other services. Each patient is unique and as such each patient has different care requirements. Each patient has a personalized care plan designed for them. Individualized treatments are often selected and incorporated into patients care. Details of the specific treatments are outside of the scope of this section.
