Cystic fibrosis affects 10,400 people in the UK, and five babies are born with the disease each week
My beautiful little girl doesn’t look sick. In fact she looks so well that anyone who doesn’t know her wouldn’t have a clue that she has cystic fibrosis (CF), the UK’s most common life-threatening inherited disease.
By 7am every day Charlotte will have undergone an hour of gruelling physiotherapy and received a cocktail of medications to help loosen the thick, sticky mucus that clogs her lungs and digestive system, making it difficult for her to breathe, exercise and digest food.
CF affects 10,400 people in the UK. Five babies are born with the condition every week and there is no cure, yet most understand very little about the disease.
It can happen to anyone who carries the gene and in the UK that’s one in every 25 people.
There is currently no cure for the disease, and it can occur in anyone who carries the gene (GETTY)
“As we watch the rest of the world take an innovative approach to CF, we’re left at the back of the queue”
As it is an auto-recessive gene, if you have a child with another carrier the chances of having a baby with CF is reduced to one in four.
Having CF is very isolating. While my daughter looks very normal, our family life is not.
Being able to go on a play date, go swimming or even enjoying a spontaneous coffee with a friend falls somewhere behind the strict regimen of physiotherapy, nebuliser sessions, blood tests, liver scans, lung function tests, not to mention the worry of trying to hold it all together.
Charlotte was diagnosed with CF when she was three weeks old. The news knocked us sideways.
The life expectancy of CF sufferers is 37, but half of those who died last year were under 31 (GETTY)
Never to that day did I truly know or understand what utter devastation is.
One minute we were holding this perfect little package then suddenly we were told a genetic fault would eventually ravage her tiny body and end her life before she reaches middle age.
Half of those who died as a result of CF last year were under 31.
I have read everything I can find on this disease, looked at studies and scanned internet forums but there’s no dressing it up – CF is going to kill her.
At night my husband Chris and I lie in bed discussing the prospect of losing her and how we wouldn’t want to go on but would have to for the sake of our older daughter Emily, who is eight.
Yet there is now a glimmer of hope in the form of a pharmaceutical firm based in Boston, US, called Vertex.
The company is the first to design a drug to treat the underlying genetic fault in CF as opposed to the symptoms.
The drug is called Orkambi and so far the results are astonishing. Data has shown it may halt or reverse lung damage in children under 12.
Research shows that a new drug called Orkambi may halt or reverse lung damage in children under 12 (GETTY)
It has also been found to slow loss of lung function in older patients by 42 per cent.
Orkambi fixes things at cellular level, giving patients the chance to get rid of long-term infections.
For us it offers hope that our bright and beautiful little girl won’t be ravaged by this disease but will enjoy school, become an adult and show CF what she is made of.
We are filled with excitement, reading blogs from patients and parents in Europe and the US who talk of a cloud being lifted and even of having survivors’ guilt.
Orkambi is not available on the NHS as it was deemed too expensive at £104,000 per patient per year (GETTY)
But we live in England where Orkambi isn’t funded and hasn’t been since it was approved as being safe and effective by the European Medicines Agency two years ago.
At £104,000 per year for each patient it was deemed by the National Institute for Health and Care Excellence to be too expensive, even though it drastically cuts the number of hospital admissions and the need for antibiotics.
As I stand and fill syringes, sterilise nebulisers and count out daily tablets (all 43 of them) I can’t comprehend why we are still spending every waking hour having to fight for access to this drug.
In June the families of CF patients donned oxygen masks and placards and protested outside Parliament at being denied Orkambi. What else can we do?
We’ve searched the internet looking for a drug trial that Charlotte could take part in to get access to Orkambi.
We have had our family home in Stockport, Cheshire valued to see how much we could fund if we moved in with family or into a caravan.
We have looked at relocating to one of the many countries that do fund Orkambi.
But it is futile and we need the Government to step up.
I attended a parliamentary event in November sponsored by Ian Austin MP. It was an opportunity for CF campaigners to explain to MPs why new precision medicines are so vital to those living with the condition.
What price do you put on all the suffering that could be greatly reduced by a drug sitting on a shelf in Boston?
And what price do you put on the life of a little girl who has spent her school holiday in a hospital bed, too weak to lift her head?
As we watch the rest of the world take an innovative approach to CF we’re left at the back of the queue.
*Names have been changed
The Cystic Fibrosis Trust is the only UK-wide charity dedicated to supporting everyone affected by CF. It campaigns to make precision medicines available. To find out more and to donate visit cysticfibrosis.org.uk