RUTH McEnaney hasn’t yet told her four-year-old son, Ciaran, all that much about the disease she takes her regular medicines for. “I say that I need these medicines to help my tummy. I need it to help my breathing. Things like that are just simple that he can understand.” He’s not yet old enough, she says, to take on the bigger information about what she is suffering from – what took her to hospital, in the last year, and made her cough up blood. For McEnaney has cystic fibrosis, a genetic condition which causes intense pain and suffering, and severely shortens the lives of those who have it.
At 31 years old, she is just nine years off the median predicted survival age of 40 for those born around 1990. “All the time,” she observes, “we’re seeing statistics about how the median survival age is increasing.” It has crept up over the years since 1938, when the disease was first recognised and children survived no more than a year, as the disease has become more understood and treatments, including full lung transplants, developed.
“But,” she says, “many are still dying very young.” She recalls that as a child and young adult she used to attend a clinic with around five other people. “Of that original group there’s only me left. And I’m only 31. When you have this disease you are constantly seeing people around you passing away young – in their twenties or thirties, even younger than that. It is still is a killer of young people. A lot of these people that went to clinic with me were younger than me.”
This terrible toll, she says, is why she is part of a call on the Scottish Government to make the drug Orkambi available to sufferers in Scotland. The drug is one she sees as a game-changer – one of the first medicines to treat the underlying cause of the disease, rather than just the symptoms. But it’s also hugely expensive, at £104,000 for a year’s treatment, and currently not available through the NHS since the Scottish Medicine Consortium (SMC) rejected it in 2016 on cost grounds. Last week, Conservative MSP Alex Neil called, in a Holyrood debate, for pharmaceutical firm Vertex, which manufactures the drug, the SMC and NHS Scotland to make the drug available now – and sort the deal later. He asked for “the Government to knock the heads together” of these organisations.
“I know it’s a crazy amount of money,” McEnaney says. “The price of these drugs is astronomical. But we feel that we’re worth it.”
Orkambi is manufactured by Vertex, a specialist in cystic fibrosis drugs, which has been involved in price stand-offs in many countries, England and France included, where governments are refusing to pay the list price that is being asked by the company for the drug.
“We need Orkambi,” says McEnaney, “and the other drugs like it that are to come, because people are still taken too young. Even people who have had a transplant and had their life extended have still died young. But it’s not just Orkambi we need. It’s everything that’s to come next.”
The current campaign, in other words, is not just about this drug, but ensuring a more free-flowing pipeline on the new drugs that are to come. Orkambi doesn’t work for all cystic fibrosis sufferers – only those who have two copies of what is called the F508del gene mutation, of which McEnaney is one of 330 in Scotland. It follows in the wake of Kalydeco, which worked for those with certain other mutations, and is part of an attempt to create drugs that will extend to more sufferers. Vertex is also now trialling a triple combination drug which aims to treat still further people.
“I’m following what’s happening next,” says McEnaney. “There are other drugs in the pipeline that are looking like they’re going to be even better than Orkambi. So it’s really important that it’s not just about Orkambi. It’s about all the drugs that come next.
What many advocate for Scotland is a “portfolio” deal similar to that made between the Republic of Ireland and Vertex. Such a deal would provide access not just to one of the drugs, but to the unfolding series being developed by Vertex, as new drugs come up helping those with different mutations. But the costs appear to be potentially enormous.
McEnaney was six when she was diagnosed. She was always, she says, unwell as a child, though no one knew what it was. “Even right from being a tiny baby, I was ‘failure to thrive’. I was later treated as asthmatic. All the signs were there, but it wasn’t actually picked up and tested for properly until I was six.”
Such a late diagnosis was common then – indeed, some sufferers were not even diagnosed till well into adulthood. But that has all changed now, since babies get a heel prick test at birth which identifies whether they have the disease.
As a child she lacked the same energy levels as others her age. “I couldn’t get enough energy from my food due to malabsorption. I remember struggling to eat due to pure digestive health and have memories of being the only person in the whole school left in the dinner hall trying to eat my lunch.”
Like most cystic fibrosis sufferers, she now has a long list of medicines that keep her functioning. “I and most CF patients have to take digestive tablets when we eat. That can be up to 50 tablets a day, just for their digestive enzymes. That’s not even taking into account antibiotics, vitamin supplements, breathing treatments, inhalers, all kinds of things.”
Cystic fibrosis patients also frequently have diabetes. Currently McEnaney is “not quite diabetic”, but has “impaired glucose intolerance”.
“I’m on the way there, but not quite there yet,” she says. When she was pregnant, she had gestational diabetes, which was treated with insulin.
Orkambi would, she says, likely reduce the need for many of these other medications: “Since it’s dealing with the root cause of the symptoms, then you don’t need realistically all those medications to treat the symptoms. The symptoms potentially would improve. It could reduce not only the burden of your daily treatment, but also things like hospital stays, and the need for lots of intervention.” Clinical data from the drug has shown that it can slow the decline in lung function- the main cause of death from the disease – by 42 per cent.
McEnaney’s son does not have cystic fibrosis, since his father, James, is not a carrier of the genes, but she is fearful about how her illness may affect him in future. “What if something goes wrong? What happens to my son?” she asks herself. But, she says, she is also determined not to let cystic fibrosis beat her. “I’m not letting it take control, because I just can’t let it do that.”
Until now, her campaigning for these drugs has mainly been over Facebook. There are reasons, she points out, that she and other cystic fibrosis sufferers don’t tend to gather in big crowds outside the Scottish parliament to protest. “We can’t all group together because we’re not allowed to be around each other. We’re a health risk to each other. We can pass infections from person to person that wouldn’t affect people without cystic fibrosis, but can be dangerous to life-threatening infections for us. We can’t get together with placards or anything because we’re a health risk to each other.”
Advances in the treatment of cystic fibrosis are a success story of modern medicine. Yet, nevertheless, it’s a tale of too little, too slow, and too expensive. When McEnaney was 12 years old, she recalls, she was told that there was an expectation of a cure within 10 years. Her frustration is clear when she says: “We still have no cure. This is that closest we’ve ever come. But we can’t access it due to funding.”
Cystic fibrosis is caused by a gene mutation, the chief result of which is the production of abnormal mucus which is excessively thick and sticky, and which leads to blockages in the lungs and airways.
The mucus can also block tubes or the duct in the pancreas. As a result, digestive enzymes can’t reach the gut and digestion is impaired, leading to malnutrition.
Its biggest impact, which results in most deaths, is on the lungs. Blockages lead to serious lung infections, and lung function tends to decline in early childhood. Permanent lung damage can cause severe breathing problems.
Orkambi has two drug components which both work to help more chloride ions pass into and out of cells, helping to keep a balance of salt and water in organs such as the lungs.
The disease is only expressed in those who have inherited two such mutated genes, one from each parent. Those who have only one will not have the disease, but will be carriers who can pass it on to their children.
Source : HeraldScotland