Cystic fibrosis is an inherited condition which rose up the public agenda rapidly a few years ago when it was announced in 2006 that the son of the then Prime Minister, Gordon Brown, was affected by it.
But apart from the occasional high profile case, there is precious little news coverage of this life-shortening condition, even though about one in 2,500 babies in the UK are born with it. A single faulty gene - the CTFR gene on chromosome 7 - is responsible for the condition. It's what is known as a 'recessive' gene. This means that if you inherit a CF gene from one parent but the equivalent normal gene from your other parent, you will never have symptoms. However, you will have a one in two chance of passing this gene on to your child. If you inherit a CF gene from both parents, you'll be born with cystic fibrosis. Because there are lots of different mutations (abnormal versions) of this gene, there are different degrees of severity of the disease.
The faulty gene in CF affects the way your body processes sodium and chloride (salt) ions, which in turn affect the movement of water in and out of our bodies' cells. Water is drawn into cells in parts of the body, meaning that normal mucus produced by the body becomes thick and sticky. The can increase the risk of infections in the lungs and problems absorbing food from the gut, as well as type 2 diabetes, osteoporosis (or thinning of the bones), fertility problems and liver damage.
The prospects for someone born with CF are certainly better than they were just a couple of decades ago. When I was a medical student, to see children and teenagers dying from CF in the hospitals I worked in wasn't unusual. Today, a child born with the condition has a good chance of living into their 40s or 50s, and living a productive life. The outlook for people with some forms of CF has been dramatically improved with development of new drugs tailored to the individual gene type affected.
All babies in the UK are now screened for CF at birth. This allows the condition to be picked up and treated early, as well as alerting parents to the fact that any children they have in future are at risk of being affected. Parents can be counselled and screened themselves, with specialist teams on hand to help them understand the implications of any positive findings.
But this sort of intensive treatment doesn't come cheaply, and the NHS has struggled to make funding available for some of the 'orphan drugs' developed recently for CF. And even for people living with CF in the 21st century, with access to the most cutting-edge treatment, life certainly isn't 'normal' by most people's standards. From their earliest years, they will need regular medical check-ups, intensive physiotherapy and a wide array of medical treatments, ranging from inhalers and enzyme supplements to regular antibiotics and oxygen therapy.
We all need to be aware of the burden of CF - even without any history of it in the family, new parents always run the risk of being given the devastating news that their child is affected. Charities like the Cystic Fibrosis Trust do an invaluable job of providing support to sufferers and their families, bringing families together to share their experiences and raising awareness about the disease. But they're also using their resources to help develop treatments which will improve outcomes for CF sufferers still further. One day their aim is to find a treatment that will beat it for good. Your help could just take them one step closer.
Disclaimer: This article is for information only and should not be used for the diagnosis or treatment of medical conditions. Patient Platform Limited has used all reasonable care in compiling the information but make no warranty as to its accuracy. Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions.