As part of a series on the people behind our world-leading research, we meet an Imperial medic whose work has helped transform the lives of people with cystic fibrosis.
Giving patients a future
My work focuses on cystic fibrosis and new treatments for cystic fibrosis patients. There have been some brilliant advances over the last few decades.
The lifelong relationships I’ve built up with patients have been really fulfilling.
One of the things I love about my role is seeing patients I've known since they were a child grow up. The biggest change in cystic fibrosis during my career has been that it has gone from being a childhood disease to being one that affects more adults now.
If I'd have been born with cystic fibrosis, I probably wouldn't even have lived to go to secondary school – survival then was only within the first few years of life. Nowadays, with the progress we’ve made in diagnosing, managing and treating the cause of cystic fibrosis, children are surviving – often with really good health – and they’re growing up to be adults. It means when we diagnose a child now, we can give a lot more hope and optimism to the parents.
There’s a child I treated years ago – his mum brought him in and she was very, very upset and distraught. He was really thin and unwell but became healthier with treatment. He stayed with us throughout his childhood and has now transitioned to the adult clinic. His health was poor by then, but he has recently started a new treatment which has been made available following clinical trials I helped to run.
Now his lung function has been turned around, his regular hospital trips have been turned around, and for the first time he's actually thinking about the future and can plan for time that he didn't think he was going to have. He's just sent me his wedding photos – that’s a lovely thing. The lifelong relationships I’ve built up with patients have been really fulfilling.
I came into cystic fibrosis research at just the right time, I think, shortly after the gene fault that caused the disease (CFTR) was discovered – a finding that really accelerated our understanding of the basic science of the disease, but also set us thinking about new ways to treat it.
I got introduced to the concept that understanding the science could lead to real, tangible results in the clinic.
During my clinical training, I got introduced to the concept that understanding the science could lead to real, tangible results in the clinic. Before this, we were pretty much working in the dark with the science behind cystic fibrosis – for example, when I first started, I was involved in trials of drugs that treated the symptoms, like sticky mucus.
Later, when I was appointed as senior lecturer at Imperial’s National Heart and Lung Institute and a consultant at the Royal Brompton hospital, the world was just starting to discover these small molecule ‘CFTR modulator’ drugs, which target the root cause of cystic fibrosis.
The first of these, ivacaftor, was showing really promising signs in cystic fibrosis patients, and I found myself being one of the clinical advisors brought in to look at these early results, help shape what the bigger phase three trials should look like, and take on UK and global lead investigator roles.
Designing trials that changed lives
Leading that first trial was a most exciting time.
People had seen the earlier phase data and they were keen to give it a go.
Although only about 5% of people with cystic fibrosis had the specific genetic fault and were eligible for the trial at the time, it was incredibly popular. People had seen the earlier phase data and they were keen to give it a go. And it worked well.
Where I got more deeply involved was when the treatments were trialled in children – I was one of the paediatric specialists who advised on how to design those trials. Cystic fibrosis is a disease which progresses during life, and at some stage, the organ damage will no longer be reversible. So, getting drugs to children could mean stopping the disease in its tracks at an earlier stage and having more chance of benefit.
Collaboration is key
One of the great things about working in cystic fibrosis is the genuine sense of collaboration and collegiality within and between teams. None of the trials I’ve helped run would have been possible without the trials team at the Royal Brompton hospital and the clinical trials facility where we actually see the patients and do all of the tests. The trials networks have also really accelerated progress and standardisation on international and national levels, and the Cystic Fibrosis Trust fund and coordinate so much of the research in the UK.
No matter what your interest is, you will find somebody who is willing and able to support, supervise, inspire, because that's what everybody working in cystic fibrosis is about.
I would definitely say cystic fibrosis is exciting, it's dynamic, it's got lovely people involved in it. No matter what your interest is, you will find somebody who is willing and able to support, supervise, inspire, because that's what everybody working in cystic fibrosis is about.
I think probably my proudest moment was in 2013 when I discovered that some of my trainees had nominated me for a President’s Award for the supervision I’d given them. To read what they'd written about me and how I had inspired their career directions was amazing. It made me really value the influence that we can have, once we get to a certain level, on those who are around us and those who are seeking to sort of follow.
Making research a woman’s world
I'm very passionate about representation and diversity. Part of that has come out of some challenges as a woman and progressing in clinical and academic medicine.
Those instances made me very determined to try and support the next generation who might have families or might experience other barriers.
Very, very early on in my career, I recall being at a conference – the first I'd ever presented at. I was standing by my poster quite proud, a bit nervous, and a much older woman paediatrician took me to task for wanting to go into paediatrics. She said “most women get married, have their own children, then neglect their patients". Another time, at a ‘new mums’ gathering it came up that I was going back to work after my maternity leave and another woman told me that I “didn't deserve to be a mum”. Clearly these views are very outdated now, but it's not unheard of sadly, and there are some challenges getting taken seriously as a woman.
Those instances made me very determined to try and support the next generation who might have families or might experience other barriers. I’m sure that part of this is in normalising the roles of partners in childcare. I’m very proud that Imperial is so strongly supporting shared parental leave. In an academic environment where output is so highly valued, this sharing of parenting roles – and therefore opportunities – is essential.
I really envisage a different future for today’s children born with this disease.
From those early days with ivacaftor - a highly effective drug for a small minority of patients, we now have a triple combination treatment that is suitable for around 90% of patients and is being prescribed to children as young as six years old. Trials are now underway in pre-school children too.
I really envisage a different future for today’s children born with this disease. It’s crucial, however, to remember the minority of people who have rarer gene changes and can’t benefit from these drugs. Right now, attention is focussing heavily on aiming for the same sorts of benefits for them using approaches like gene therapy.
There’s a ‘working together’ attitude amongst cystic fibrosis patients, and one of the things I've found very inspirational is my patients’ altruism.
For many years now, I've been approaching patients and families and asking if they'd like to contribute to research studies. Sometimes there's an obvious win for them if they're going to get a drug that's new and we already know it works. But many times there isn't that win and the willingness of people to take part in research, which has potentially no benefit for them, but is for the greater good is really common amongst people with cystic fibrosis. I've frequently heard even young people say: “well, it doesn't matter if I don't benefit from this because somebody might in the future”. I find that a lovely sentiment.