By Grace Paget, science writer
Before I started volunteering for the Cystic Fibrosis Trust I had some knowledge of the genetic disorder from learning about it in biology lessons, but I had very little understanding of just how much of an impact it has on the people who have it and their families.
Cystic fibrosis (CF) is a life-shortening condition that cannot be developed or caught as those who have it inherit a faulty gene. Around one in 25 people in the UK carry the faulty gene and as the condition is recessive, if both parents have this gene there is a 25% chance that their child will have cystic fibrosis and a 50% chance that their child will be a carrier.
This gene is known as the CFTR (cystic fibrosis transmembrane conductance regulator) and is responsible for instructing the production of a protein channel, which controls the movement of salt and water in and out of cells in the body. If this gene is faulty then the protein may either be missing or non-functional; resulting in the condition, which causes the lungs and digestive system to become so clogged with mucus that breathing and digesting food are made extremely difficult.
Having met people with CF, it is not necessarily something that is obvious and they can often look perfectly healthy, when in fact their daily routines; consisting of huge intakes of medication and time-consuming physiotherapy as well as isolation from others who have CF, suggests otherwise.
People with cystic fibrosis cannot meet in person due to risk of cross-infection of bugs that could worsen their condition, which makes it all the more difficult to share experiences. The condition could quickly escalate without warning so, with the advent of personalised medicine to treat CF, the race to beat cystic fibrosis for good is becoming all the more important.
I was shocked to discover many people with CF are still waiting to find out if they will be offered a life-changing drug despite standing to benefit. The drug is currently only being funded for 360 people in the UK; those with one particular mutation (G551D), however there are people with other rare genetic mutations who it could stand to benefit yet they do not have the funding for it.
In July 2014 Ivacaftor received European approval for patients with non-G551D gating mutations and since then the Cystic Fibrosis Trust has identified at least 44 additional people who stand to benefit from Kalydeco (the common name for Ivacaftor), using their extensive register of patients. However, as not everyone’s genotype is known there could be even more people who could benefit from the treatment who we are not aware of.
Kalydeco is leading the way in creating life-saving treatment for people living with cystic fibrosis. For patients who are already in receipt of the treatment, remarkable clinical benefits have been reported, including an 87% reduction in the number of days spent in hospital on intravenous antibiotics, seen in Wales. Those receiving the drug have also shown a significant improvement in their lung function.
Kalydeco, which works by maximising the function of the CFTR, targets individual gating mutations by increasing the opening of the channels so that regulation of ions across the cell can occur more effectively.
The Cystic Fibrosis Trust is calling for the drug to be made available for the 44 people who are currently being denied the opportunity to improve their quality of life. Data shows that this drug could normalise life expectancy, meaning that for the first time patients face the prospect of dying from old age, not cystic fibrosis, where the median age of death currently stands at 27 (Michael Boyle, M.D., FCCP at NACFC 2014).