Unless you’ve ever met someone with Cystic Fibrosis, you probably won’t know too much about it…but they need your help.
Cystic Fibrosis is a life-limiting genetic condition that affects around 1 in every 2,500 UK babies born each year. It causes sticky mucus to gather in their lungs and digestive system, resulting in lung infections, problems digesting food, and a range of other challenging health symptoms that affect them for life.
Sadly, there’s still no cure. As a result, the average life expectancy of a Cystic Fibrosis sufferer in the UK is around 46 years for men and 41 for women – a statistic no new parent ever wants to hear about their baby.
When the vast majority of Cystic Fibrosis babies are born, it comes as a huge shock to their parents. It isn’t a condition that is tested for during pregnancy. And unless you have a family history of Cystic Fibrosis, you probably don’t even know that you’re a carrier. However, a massive one in 25 of us carries the faulty gene in our bodies. And when two unsuspecting people with this gene decide to have a baby, there’s a one in four chance that their little bundle might be born with this condition.
In the UK, most cases of Cystic Fibrosis are picked up shortly after birth using the newborn screening heel prick test. Symptoms usually begin to show in early childhood, but the condition gets slowly worse over time, with the lungs and digestive system becoming increasingly damaged, until they stop working altogether.
While there are some treatments available to help reduce the problems caused by the condition and make it easier to live with, children and young adults in the UK who have Cystic Fibrosis currently are not able to access one of the most exciting new drugs on the market. A drug which is readily available in the EU, US and Australia, which has reported miraculous health improvements from those who have taken it. But which, due to current Government policy, is still not available for patients in the UK.
It’s called Orkambi, and this is where we need your help…
Cystic Fibrosis sufferers and parents of Cystic Fibrosis babies have set up a petition, calling on the Government to supply the NHS with lifesaving Orkambi, which has been readily available in 11 other EU countries for years…but still not the UK. We want to change that…
Despite an ever-increasing abundance of evidence as to the drugs’ effectiveness, Cystic Fibrosis sufferers in the UK still do not have access to this potentially life-changing drug. Consultants nationwide have asked the NHS to make the drugs available. Doctors have expressed distress at seeing children die whilst the drug they need is on the shelf. But after 3 years, parents and sufferers are still waiting on the Government to make a decision on getting Orkambi to UK patients.
Families affected by Cystic Fibrosis cannot wait any longer. So, please, please, please sign their petition today so we can put as much pressure as possible on the Government to finally act, stop dragging their feet, and make Orkambi available on the NHS for those who need it most. Thank you.
Katie’s story
I remember the day as if it was yesterday. It was 28th August 2018, and my husband Ross had just gone back to work at the end of paternity leave. I was standing outside the Kingston Council building about to register the birth of our darling baby girl Sophia, who was just two weeks old. When suddenly my phone started ringing..
Unknown number…
I don’t normally pick these up, but for some reason I did this time…
“Hello, its Sally here, your health visitor. I have some news regarding Sophia’s heel prick test. Please can I come and see you today? I would advise your husband returns home from work.”
My mind started racing. Why couldn’t she just tell me over the phone? What the hell could this be? Should I continue to register her birth??? The next two hours felt like forever. Ross came home from work and Sally and her colleague from the Royal Brompton hospital arrived at our flat with news that changed our lives, and Sophia’s very new and very precious life, forever.
Sophia was diagnosed with suspected Cystic Fibrosis (CF) via the newborn blood spot test that day, which was then confirmed via a sweat test the following day in the hospital. CF is an inherited condition affecting mainly the lungs and digestion. A child with CF has inherited two altered genes, one from each parent, which together cause CF. Just our bloody luck.
Both Ross and I carry this gene (unknown to us until this day) and both of our altered genes were passed on to Sophia resulting in the condition. The sense of guilt was unbelievable and still now I wish I had known that I was a carrier so we could have prevented Sophia from having this condition. Its currently not part of any pre-birth screening as it is still very rare.
Being Sophia’s mum is literally amazing. She is the best thing that’s ever happened to our little family. We don’t and won’t let her CF define her. But there are lots of added extra CF things that we’ve had to add into her routine, like twice daily physio, lots and lots of medication, being super aware of bugs and viruses etc. Over the past 8 months we’ve been in the hospital more time than I can remember, with regular trips to the CF clinic to monitor her progress very closely.
We don’t know what the future will be like for Sophia, but we have hope. We know there will be ups and downs, but staying positive and living life for everyday is our current mantra.
The CF specialists around the world, at the Royal Brompton and at charities like the CF Trust are pushing boundaries with their research into new drugs, and both Ross and I get a sense that they are very close to a breakthrough that could be ground breaking for all CF-ers now and in the future.
There are some incredible drugs available in other countries such as Orkambi and other precession medicines. We just need them available here in the UK so Sophia and all her CF buddies can live a life unlimited. So, if you can spare a moment please to sign the petition…it really could be the start of something incredible.
Before you go, the absolutely amazing Katie is running the London Marathon at the end of April, to raise money for Cystic Fibrosis charity the CF Trust, which is enabling doctors and specialists to find new medicines and innovative ways of managing the condition so that people born with CF in the future will be able to live a life unlimited.
So, if you’re feeling generous and have any money to spare, I’d love it if you could show your support and sponsor her marathon effort here. Thank you!
