Dare to hope

Hope of a cure is crucial for anyone suffering with a life-threatening illness like cystic fibrosis (CF)*. My hopes have been raised and dashed in equal measure over the years. But is the outlook at last changing?

Having just turned 42, I’m keeping just above the median age of life expectancy for CF sufferers in the UK which is currently set at 41 (and 38 in the U.S.as I understand it). Based on existing UK records, each week five babies are born with CF, and two people die. More than half of the CF population will live past 41, and improved care and treatments mean that a baby born today is expected to live even longer.

The ‘c’ word of ‘cure’ is of paramount importance to all of us and our loved ones. A cure from all our ills. This word has been bandied about in many different ways by all sorts of people from scientists to the media for more than half my life.

It was way back in August 1989 that scientists from the U.S. and Canada triumphantly announced the discovery of the gene associated with CF. It was the early days of gene hunting, and the CF gene was a big prize. At the time, they predicted that a genetic test for CF was just around the corner. But they also thought a drug to treat the disease was in reach.

Patient patient
24 years and over 8500 days later a CF cure is still proving elusive. Throughout this extensive period of hope, I’ve experienced many false dawns and had to rationalise the sensationalism of many press reports. I’ve also have to manage the delight of my family and friends who tell me they’ve just heard that “a cure for CF has just been discovered!”

From 1997 I endured a fallow decade of no new drugs that could improve both my body and mind. Based on the premise that if you don’t ask, you don’t get in this life; I must have sounded like a broken record with my doctor during every appointment, “Anything new coming soon?”

Often my doctor would name a couple of drugs that I’d never heard of and tell me that we needed to ‘save them for a rainy day’. Well England has had its fair share of rain in this period, but still I had no joy. I did ask but I didn’t get.

Strangely, the years have taught me about patience. Patience is waiting. Patience is keeping going when the going is torturous and slow. Waiting hurts. But not knowing if a cure will ever come my way can sometimes be even more painful.

I know a few CFers who have withstood lung transplants and are doing pretty well but very sadly I know some that didn’t survive after receiving their new organs. I know and see others around the hospital, heavily dependent on oxygen, who are desperately holding out for the right donated organs. I can only imagine that that must require the most amazing amount of patience.

Wait for me
There are now a handful of successful drugs making their way onto the market. Like buses, you have to wait an age for one to turn up and then suddenly a couple turn up all at once.

A new generation of transformational drugs are coming. I have luckily lived long enough to see a time where drugs for the first time are available that treat the root cause of CF.

‘TOBI Podhaler’ by Novartis, consisting of a dry powder formulation of Tobramycin for oral inhalation via a handy device is one such medication. I’ve been on this for a few months and it’s improved my lung function by over 5 per cent.

Also there are two further dry powder inhalations – ‘Colobreathe’ from Forest Laboratories and ‘Bronchitol’ (mannitol) by Pharmaxis. Lastly there is an oral medication called ‘Kalydeco’ from Vertex Pharmaceuticals.

The drug that is receiving a lot of press is Kalydeco. It took Vertex a while to find a drug that would help restore the function of the protein the CF gene makes. One of those chemicals ultimately became a successful drug, but it had to be modified so patients could take it by mouth, and so it would last the right length of time in a patient’s body. Overall the success of Kalydeco has been more than two decades in the making.

Kalydeco only treats patients with CF who have at least one copy of the G551D mutation. There are around four per cent in England – about 350 patients – who are benefiting from this medicine. While not quite a cure, the drug is extremely effective for those patients who have that mutation.

It has opened up a new era of genotype specific medicines that are the closest thing to a cure yet for cystic fibrosis. It comes in the form of two blue tablets, which control the symptoms in the lungs and for some of the digestive system too. After 42 years battling with CF, taking 40 tablets a day and many other treatments, I can’t imagine having only two little pills to take a day.

I don’t have the G551D mutation. I have the most common type of CF mutation, F508Del, which 90 per cent of people with CF carry, but Kalydeco could still help me in the long run. There are further trials using Kalydeco in combination with a substance called VX-809. The first results from these trials have shown a potentially positive impact on the more common F508del mutation.

However, this is not an actual cure as the damaged CF gene still exists. The only way to fix that would be gene therapy, where a healthy form of the gene would supplant the damaged one. Although it seems simple in theory, in practice, gene therapy has been incredibly difficult to accomplish and clinical trials in the UK and US are ongoing. When perfected hopefully inside the next decade (but I don’t want to get my hopes up), the effect will be close to a cure for CF children and it will be very helpful for older adults depending on their state of health.

There is and always has been a lot of fanfare about curing CF, but this new generation of drugs offer an alternative ‘c word’ and that is ‘control’ – controlling CF at the basic level, and that offers hope while we wait for gene therapy. We are at last beginning to win a few battles while we hold out to win the whole war… but there’s still more waiting and patience required.

More can and needs to be done by pharmaceuticals to maintain the momentum on treating CF. Scientists need to have an ‘ABC mindset’ to CF – Always Be Curing!

Once a drug is available it would help to keep it at a realistic funding price so that it’s actually benefiting those that need it. There’s nothing worse for a person with a chronic health condition then knowing of the existence of a game-changing drug, only for funding red tape to delay or eliminate it ever being taken. People talk about dangling a carrot, but this is more like suspending a bar of gold above someone’s head and then taking it away.

There’s a golden opportunity for drug companies and R&D staff to leave a lasting legacy by making a tangible difference to the quality of life and longevity of CF sufferers, so that in my lifetime the average age for a CF life is doubled.

It would also have a massive impact on my life, hopefully prolonging it so that I can enjoy a better quality of life with my wife Katie and son Felix.

I’m told that time is a great healer. Up to now that hasn’t been the case. I’m hoping that I can dare to hope for a brighter future and that time will still be on my side…

The UK CF Trust is at the heart of CF research and is holding a Research Strategy Conference on 29 April in London. Check out the CF Trust Website for more information on their strategy.

I will keep you posted on my life affirming moments, trials and tribulations as and when they happen. Please keep reading and sharing my blog and sign up (on the right hand side tab) if you have not already done so.

Yours cup half full.

Tim
Tim Wotton

* Cystic Fibrosis is one of the UK’s most common life threatening inherited diseases, affecting over 8,500 people. The condition affects the internal organs, especially the lungs and digestive system, by clogging them with thick sticky mucus. This makes it hard to breathe and digest food. Each week, five babies are born with the condition, however, each week, three young lives are also lost to it. There is currently no cure for CF. However, existing gene therapy trials in the UK are bringing people with the illness closer to a form of cure but CF is not that well known and would benefit from more public donations.For more information and to find out more view the CF Trust Website.