Rachel Agutter’s parents were told she would only live till 12 – now 40, she talks to PharmaTimes about living with a disease where her luck could run out at any moment

How were you diagnosed with cystic fibrosis, and what were your symptoms?

I was diagnosed at 6 months old in 1978, so well before the heel prick test was mandatory for newborns. My symptoms were ‘failure to thrive’; I was losing a lot of weight.

At what age were you diagnosed, and how did your parents cope?

Because it was the 70s the prognosis for CF patients was poor – you were not expected to make adulthood and so my parents were told my life expectancy was probably about 12 years. They were obviously devastated at the time but slowly got used to the diagnosis and treatments and we got on with life like any normal family. I think in a way they were lucky as without the internet they were not able to see some of the darker sides of CF, I was their only experience and so they just moved forward.

What have you been told about your prognosis?

I have learned over the years not to listen to anybody regarding prognosis – my parents were told I would not make 12, my paediatric doctor told me at 18 it was unlikely I would live past 28 and I should rethink going to university. Neither of those predictions came to fruition. I completed my degree in Zoology, went travelling around the world, had a career, got married, became an aunty and dog mother and now just celebrated my 40th birthday, all things that were not part of my ‘prognosis’ and that I had only ever dreamed of.

I have lost lung function before, been told it was my new baseline and then regained it. I am fully aware of the statistics and that the average life expectancy is still around 37 years old but there are huge variations around this. I think it is impossible to give any prognosis especially with the new corrector medications in the pipeline, and for those younger patients with less lung damage we will be in uncharted territory. This is an unprecedented time for CF and for the first time there are drugs treating the cause not just firefighting the symptoms. Regardless though CF is still a fatal progressive disease that is unpredictable and can suddenly hit you like a tonne of bricks. I would say I have been lucky so far but I am acutely aware my luck could run out at any moment.

What treatment do you have?

I do regular chest clearance twice a day and nebulised antibiotics, mucolytics such as Pulmozyme and Hypertonic saline and also enzymes to help digest my food. Most importantly regular and intense exercise.

Are you happy with the NHS care you have received – could any aspect have been improved?

I feel very lucky to have the NHS which has kept me alive all these years but I worry greatly with the ever-growing adult CF population that it sadly will not be able to keep up with many of our needs. Often you must wait for a bed, usually due to nursing shortages. This is a real problem in CF; any infections need to be treated asap and the lung damage is irreversible. More importantly, I worry that the new precision medicines from pharma companies such as Vertex are just not affordable using NICE’s current system to appraise their cost-effectiveness. The NHS was not set up to be able to cope with the cost of personalised medicine and the enormous amount of R&D it requires, especially for orphan disease such as CF. This is medicine the USA and most of the EU already have.

I am currently part of a system at the Brompton that allows me to have virtual clinics. I think this technology is one of the best things to happen and is long overdue within the NHS. I am now able to monitor my lung function using the NuvoAir from home using an app on my phone. I can see changes in my lung function long before my three-monthly clinic and so be proactive in upping my treatments before any damage is done. I am able to speak to my team via Skype. The other huge benefit here is that it eliminates the ever present concern of cross-infection amongst CF patients. The NHS really must embrace the use of technology in its ability to track and monitor health.

Were you given any information on clinical trials investigating new therapies for CF?

I have done all my own research re clinical trials. I like to regularly pester our CF clinical research nurse. I truly believe as a patient you have to be your own advocate. I have been lucky enough to participate in a phase III trial in the past. I understand the CF Trust now has a page on their website where you can see what trials are available and how to participate. They have also started the CF accelerator programme to help those at other centres around the country access clinical trials. The problem these days is that particularly for phase III trials for corrector medications such as Vertex’s Triple Combo, the competition for places is fierce, the likelihood of getting a space is tiny. This is because the trials have a small number of people on them (to speed up approval) and are spread across the USA and Europe.

What do you find the most difficult aspect of the condition?

The absolute fear that here in the UK we will not get access to new precision medications such as Symdeko and the Triple Combo. This terrifies me, as really it is our only hope at seeing a significant change in this disease and possibly a close to normal life for younger patients that get to start it early before they have any significant lung damage.

There’s also the unpredictability – the fact that you can be fine one day and then get very sick, very fast the next. The flip side to this is that it encourages you to make the most out of the times that you are well, to live in the moment more.

Has the condition impacted your lifestyle?

I have been lucky in that it did not affect me at school or university, though looking back I wish I had been more aware and taken better care of myself, I had just enough lung function to scrape by thinking I was fine because it was not low enough to stop me doing anything. In reality, though I certainly lost a significant amount of lung function over that time without realising. Things changed when I started working full-time. Keeping up with treatments, socialising and commuting took their toll and so I decided to go freelance and eventually five years ago I gave up work completely. That was undoubtedly the best thing I ever did for my health. I now have the time to do all my treatments, get the extra sleep and exercise I need and to recover if I do get sick. My lung function has remained stable since I stopped working.

Do you think the depth and quality of information offered to CF patients in the UK is adequate?

I think there is plenty of good information out there for CF patients on the relevant websites such as the CF Trust and the CFF in America, although times are changing and I feel many patients now get most of their information via social media – this can lead to a lot of misinformation and also unrealistic ideals.

What do you think are the key challenges facing patients with CF in the UK?

Without a doubt, this is access to new personalised medicine such as Orkambi, Symdeko and others that are in trials. Finally, drugs that treat the cause, not firefight the relentless symptoms. There is great fear, disappointment and anger amongst CF patients that we will never receive these life-changing medications. We follow other patients on social media around the world and see their lives change before our eyes, yet feel we are desperately treading water with that life raft always just out of reach. With a lung function that hovers around 40%, I fear how much longer I can keep that stability, to keep treading water. I’m scared these drugs will come too late.

What is your greatest hope/fear for the future?

CF has taught me never to think too far ahead because it is just too unpredictable. My goals for the next six months are to keep well enough to enjoy travelling the world with my husband for three months from January, to keep stable for when I hope these new drugs finally become available in our country and to enjoy being an aunt to my two gorgeous nephews.