Cystic fibrosis is one of those particularly unpleasant diseases that is inherited through family genes.
If both parents carry the faulty gene, there is a 1 in 4 chance their child will be born with it. Children with the disease will cough and wheeze as they grow up, struggling to breathe and to thrive. The predicted survival for a child born with ‘CF’ today is 53.
“The mucus in the lung just gets thicker and thicker,” explains the director of the adult cystic fibrosis centre at Royal Brompton, one of the first to be set up back in the 1960s, and today among the largest in the world.
In CF there is a mutation in the gene that normally produces a key protein, she explains. That protein controls the movement of water and salt in and out of cells, including the production of mucus. So when it goes wrong, the mucus becomes sticky.
This affects not only the lungs, but the digestive system, the pancreas, the liver…essentially, most of the body’s organs.
Which is why this morning, going through the daily patient list at the CF centre, there are no fewer than eight clinicians in the room, and a further 13 online on the screen in front of us. It is a large multi-disciplinary team. There are physiotherapists, pharmacists, dietitians, specialist nurses, psychologists, and consultants.
They go through the list. The point is to assess each person with CF, where they are with their current illness, what their treatment is, whether they need more of this, less of that, how they are feeling.
Some are in the hospital, some are being treated at home, and they come from all walks of life. Like all diseases, CF is a leveller. Its lifetime of impact also means most have been on the list receiving treatment since they were babies.
“They have never known anything else. We are part of their lives and they have no choice about it,” says the director. This has its upsides – everyone knows each other really well – and also its downsides. “They tend to tell us just what they think.”
In the morning meeting, the clinicians are discussing someone who does just that. “When I spoke to him he was resistant to the idea….I suspect he will find excuses not to come in…”
Another is described as “demotivated”….“she needs to feel she has achieved something” the consultant says. One case is described as challenging and “not going to change…it’s been like this for years.”
When you have a life-long, life-limiting disease like CF, the hospital confinements, dietary requirements, and physiotherapy exercises, take their toll psychologically. Even if you know it is for your own good, going down familiar paths again and again can, understandably, be challenging.
The team are frustrated, too. They have been on the same journey, with the same people with CF and same colleagues, for years. All of them are bound together, like an extended family. They care for each other the same way, share their lives together, get to know their close relations.
“When we go to international conferences we meet up with colleagues we’ve known for 40 years,” says the director.
But now, thankfully, things are in fact changing in this disease – they really are. A new type of drug called a ‘modulator’, developed in the US and introduced ten years ago, does not just treat the symptoms, but the cause. It actually ‘corrects’ the defective protein that messes up the water and salt movement in cells. The impact on people with CF has been dramatic.
“We don’t use the term transformative very lightly, but modulators really are game changing,” one of the consultants tells me. “Those taking them are far more well, and far more stable. They are going to live longer and have healthier lives.”
Of course it’s not quite that straightforward for the worldwide population of around 100,000 people with CF, of whom about 10% live in the UK. CF is renowned for having a large number of variants and so four different modulators have been developed so far, which don’t of course work on every different disease type.
But at the CF centre, the team are delighted that one of their family of patients – a young woman they’ve known since she was a teenager, is finally getting to live her life thanks to the new drug. They visit her on the ward round.
“In 2019-2020 I wasn’t working and I couldn’t leave the house. It got to the point where CF seemed really difficult and I couldn’t see the breaks. I was on the brink of thinking do I even work any more?
“Then my lung function started improving, things at work started getting better. I got promoted, and I started thinking about what next – maybe even babies!” she says.
Her enthusiasm is catching. There is talk about what social events she’s starting to plan. One of the clinicians shares notes about this year’s Glastonbury line up. You can see and feel the sense of joy in the room.
Family, as they say, is everything.