Wind, wind and more wind

Last week in Oxford, the Cystic Fibrosis Trust brought together gastrointestinal (GI) health experts from across Europe to look at the digestive complications that many people experience with cystic fibrosis. Along with the scientists and clinical staff, people with CF and their carers were represented. Below one of those parents, David Turner QC, gives us and insight on the research 'sandpit'.

Storm Imogen was doing its best to bend trees double as 35 scientists and clinicians gathered in Oxfordshire for a research “sandpit” devoted to the problems which cystic fibrosis causes for the digestive tract. An introduction from Dr Jon King (a Senior House Officer at St Mary’s, Paddington, who also has cystic fibrosis) outlined just how debilitating – and embarrassing – these complications can be. For many, digestive complications are amongst the most significant effects of cystic fibrosis.

The sandpit was the brainchild of Dr Janet Allen, the Trust’s Director of Strategic Innovation. 

Her idea was brilliantly simple:

•     Mix together cystic fibrosis clinicians, gastro-intestinal clinicians, scientists specialising in CFTR defects and leading lights in (non-CF) gastro-intestinal research.
•     Add a dash of inspiration.
•     Simmer under significant time pressure.
•     Remove collective ideas for research priorities and season under the bright light of instant peer review.

The assembled company involved experts from all parts of the UK, Germany, Belgium, the Netherlands and Spain. Discussions were free-rolling, leaping between subjects such as gut microbiota, DIOS, the impact of antibiotics, prebiotics and probiotics, gut acidity, gut motility, bicarbonate channels, chloride channels and methane testing.

The discussion was superbly marshalled and directed by facilitators from Know Innovation. By mid-morning of the second day the attendees were working together in small multi-disciplinary teams to define a novel research question and to justify the question’s relevance by explaining how it would make a real difference to the lives of people with cystic fibrosis. Proposals for further refinement and, potentially, applications for future research funding, included improving gastrointestinal health by manipulating microbiota, identifying biomarkers that could help develop personalised dietary plans, and designing a new supplement to improve fat absorption.

The aim of the sandpit was to stimulate discussion and to provide the foundations for future, multi-disciplinary research collaborations which might ultimately transform the lives of many. Not only was that aim achieved, but a buzz was created which was palpable as everyone left to confront the tail end of Imogen’s winds. All in all, this had been a tremendously exciting and uplifting event!

Stopping the Clock - You Voice Matters

With the ongoing success of our Stopping the Clock petition on availability of precision medicines for cystic fibrosis, our Chief Executive Ed Owen gives more insight into why this is such an important issue for the CF community.

When 10,500 people sign up to our petition demanding access to new precisiontherapies like Orkambi and Kalydeco just 48 hours after we announced it, you know that this is an issue which touches people like no other.

Things have come a long way since the 1960s when most children born with cystic fibrosis failed to reach their fifth birthday – and there are now more adults with cystic fibrosis in the UK than kids.

But too many young people are dying early, too many families live with the grief and the fear that cystic fibrosis brings, for us to let up until we have beaten this cruel condition for good.

And this goal is now more than a distant hope. It is one that we now genuinely believe is within our grasp.

Yet the nearer this comes, so it is more important than ever that we increase our efforts to shorten the time it takes to get there, because every day, every week, every year we spend means more lives lost and more suffering families.

The development of a pipeline of new precision therapies that can extend life and reduce the heavy treatment burden of cystic fibrosis is a major step forward, and one that we want to see everyone benefit from as soon as possible.

But it will not happen unless we make it so, and that’s the purpose of our ‘Stoppingthe Clock’ campaign. It will ensure the collective voice of the cystic fibrosis community here in the UK is heard loud and clear by Vertex, the NHS, politicians and others.

Access to therapies that can make a difference to the lives of people with cystic fibrosis is an essential part of our wider Fight for a Life Unlimited.

This fight means we are investing where it matters to generate the best scientific and clinical ideas and to accelerate the process to ensure these benefit people with cystic fibrosis directly.

So, as well as campaigning for vital therapies for today, we are investing in world-class research centres tackling key issues like pseudomonas and NTM infection to help generate the drugs of the future too.

And we are developing plans to provide more capacity for vital clinical trials to take place in the UK and helping to shape ideas to develop SmartCareCF to use new technologies and data to empower people with cystic fibrosis and, where possible, keep them out of hospital.

We are developing new forms of information and support for people with cystic fibrosis and their families – and shaping new programmes to promote activity and empower and create new opportunities for young people living with the condition.

There’s so much we are doing. But we cannot do it alone. We need the funds to support this vital work.

And we need the united voice of all those affected by cystic fibrosis, their families, friends, clinical teams and others to help spread the word, amplify our community’s voice and reach out to new supporters.

Together, we can and will transform the lives of people with cystic fibrosis and achieve our goal of a Life Unlimited. Please get on board and let’s make it happen!

Want to help us do more transformational research and campaigning work? Donate now!

More Than Lungs - Digestion & CF

On 8–9 February, the Trust will be hosting a research ‘sandpit’ exploring issues related to digestion in cystic fibrosis, a meeting bringing together experts from within and beyond the world of cystic fibrosis. Here Dr Jon King shares his experience of the often overlooked impact of cystic fibrosis on digestion.

A few months ago, the Cystic Fibrosis Trust approached me to be a part of a research meeting (sandpit) to discuss possible research avenues for gastrointestinal (GI) problems in cystic fibrosis (CF).

The Trust is exceptionally good at viewing CF and its care holistically, and I realised what an immense impact GI problems have on my daily life – dare I say it, rather more so than my lungs! During a committee conference call, we joked that perhaps CF is actually a condition of the GI tract with some lung involvement!

Of course when we think of CF, we think about our lungs. When we fear the future, we worry about downward trends in spirometry and worry about the need for transplants. We think about those times when we have been caught out in public; short of breath, coughing and spluttering, feeling quite awkwardly alien to everyone else around us. This is CF… But is it?

Until 18 months ago, almost every morning for over 10 years, I threw up acid and bile due to morning reflux. My face would contort with the griping burning pain of my reflux between meals or whilst eating certain foods. Triple therapy (pantoprazole, ranitidine and domperidone) made no difference and when I had a pH manometry the surgeon did not believe that I was complying with the drugs because the results were so extreme. I have since had two operations on my stomach, the first failed, the second with the addition of a metal mesh has worked well.

Reflux is annoying and can be really painful, even leading to surgery; but to paraphrase Monty Python, apart from reflux, what does the GI system do to us?

Well, what about Creon? Look at yourself. You’re out with your friends, having a meal and you pull out a container and take more tablets in one go than anyone round that table probably takes in a year. And you have to do that almost every time you eat or drink. That is quite an impact on our daily lives. Now that we are being deprived of 40,000s, I am on at least 70 25,000 capsules a day - it does allow me to perform my party trick of 24 tablets in one go though!

How about insulin? CF-related diabetes requires careful blood-sugar monitoring and insulin regimes, and yet we rarely really think about it; we deal with it as an adjunct to everything else, like taking a vitamin tablet.

Which brings me conveniently on to the small bowel GI effect of CF: fat-soluble vitamin malabsorption. What about the long-term effect of the half a dozen or so more tablets (vitamins A+D, vitamin E and a calcium tablet) for that? We have regular dexa scans to monitor bone density because with the additive effect of regular steroid use, we have a high risk of developing osteopaenia and eventually osteoporosis.

Alas, we are only at the upper GI system – we still have the large bowel to tackle yet. Distal intestinal obstructive syndrome (DIOS): excruciating pain requiring hospital admission for pain relief and rehydration, sometimes an operation.

And what about steatorrhoea? I don’t know about the readers but I spend an awful long part of my day in the toilet. How many times have you been stood over a toilet wiping for three, four or five times longer than you were ever sat on it?! And how many times have you had to flush the loo so many times that someone has looked at you strangely as you return to the living room? Do you even dare repeat this ritual in a public loo? I commend you if you do – you are braver than me! I live in a small flat with my girlfriend. I spent all my savings refurbishing but ran out of money before I could afford the en suite door – to say that this can be a mood killer is an understatement!

And our bowels can go completely the opposite way with severe constipation, thanks to a perfect combination of sticky, fatty steatorrhoeic stools and the thick mucus lining our guts. I once went 15 days without going to the toilet at all. There can be advantages – I use all this time on the toilet catching up with social media and replying to emails.

The constipation also affects our appetite intake, which is essential for our calorie counts, and can even lead to regular throwing up as the food has nowhere to go. Some readers may know that I cycled to Barcelona last summer to raise money for the Cystic Fibrosis Trust. For five days in a row I was so constipated that I was throwing up all my meals every day - not a great way to tackle hundreds of kilometres of cycling.

So how do we deal with this severe constipation? Yet more medication. Maybe four or more sachets of movicol a day and an equal amount of NAC. Perhaps the occasional day on the toilet after a gatsrograffin or picolax or Klean prep clear out. These are medications strong enough to clear the bowel out for surgical or camera test procedures and yet we use them merely to return to regular bowel movements!

But still, apart from painful reflux, stomach operations, dozens of tablets a day, insulin regimes, malabsorption of vital vitamins, high risk of osteoporosis, occasional DIOS, irregular bowel habits, embarrassing steatorrhoea, sachets of laxatives a day and occasionally needing to set a day or two aside for a full bowel clear out, what does the GI system do to us?!

What oddities have you found with digestion and cystic fibrosis? We can help those coming to the research sandpit really get to grips with the subject –­ share your experiences with me, @JonKingBYD, on Twitter with the hashtag #DigestCF.

A 2016 Unlimited

The New Year is here! We're ready and raring to go in our fight for a life unlimited for everyone affected by cystic fibrosis!

Our Chief Executive, Ed Owen, lays out what will be an exciting year ahead and how you can resolve to help us throughout the year.

We are at a unique moment in the history of cystic fibrosis – and 2016 must be a year of progress towards our ultimate goal.

New transformational therapies, exciting research programmes and breakthroughs in genetic science are bringing closer the day when we will beat this cruel condition for good.

And we, the Cystic Fibrosis Trust, will be unveiling new ambitious plans to help ensure our united CF community seize the extraordinary opportunities that exist to remove the limits CF imposes on all those whose lives are affected.

But, as all of us touched by cystic fibrosis know, with hope comes grief and pain.

Last year began for me with the funeral of Emily Thackeray, a shining star who dedicated her life to campaign on issues like organ donation – and ended with the dreadful news that 14-year-old Dylan Samuels had passed away.

These, and all the other individual stories of those who have lost their lives to cystic fibrosis, are the reasons we enter this year with even more determination and focus to seize this special moment than ever before.

2015 saw major steps forward.

The decision of the European Medicines Agency in November to approve the use of Orkambi for those aged 12 and over with the most common CF mutation in the UK (F508del) was very good news – as was its decision to extend the use of Kalydeco to children under six and to adults with the R117H mutation.

But this does not guarantee access, and this year our ‘Stopping the Clock’ campaign will need to step up a gear to ensure both the NHS and Vertex do the right thing so more people with CF are given access to these gene-modifying therapies.

It is encouraging, too, to hear of the progress other pharmaceutical companies are making to develop transformational drugs, as well as further Vertex work to bring forward treatments affecting other mutations.

2015 also saw the long awaited results of the Phase 2b clinical trial of a gene therapy developed by the Gene Therapy Consortium (GTC) here in the UK. This study was only possible because of the extraordinary support of the CF community over the last 15 years, and the results demonstrated for the first time the potential for gene therapy as a potential cystic fibrosis treatment.

We hope that a commercial partner can be found to take on this work in 2016 and, as a result of the continued generosity of all our supporters, the Trust is continuing to fund the GTC’s longer term ‘Wave 2’ work to develop a potentially more impactful gene therapy product using a viral agent to deliver the genetic material to the lungs of people with cystic fibrosis.

2015 saw extraordinary developments in gene-editing technology as a potential for treating, and perhaps curing, conditions like cystic fibrosis.

The Trust is already investing in this field of research and looking to build new collaborations to exploit the opportunities it presents. We are also joining other groups to ensure we have the right regulations in place to enable more vital research to take place to advance gene-editing work.

We continue to invest in research across a range of vital areas – from transformational science to beat cystic fibrosis at source to work confronting challenges like pseudomonas and NTM infections.

We will be expanding our research portfolio in 2016, and looking to develop our commercial collaborations with industry to ensure good ideas have every chance of progressing to real-life treatments for people with cystic fibrosis.

And we are working well beyond research too.

We continue to work closely with clinicians and CF teams across the UK to ensure all with cystic fibrosis have access to the best possible care in the NHS.

To do so, we will continue to lobby to ensure proper NHS funding is directed to support specialist CF centres – and we are soon to announce new funding to support initiatives that promote innovation and excellence in CF centres.

These will all be part of a range of new activities we will be unveiling in the next few months as we seek to raise our game and our ambitions to improve and transform the lives of those we are here for.

But we cannot do it alone. We need your support whether through fundraising or donating, through campaigning or giving up your time to volunteer.

2015 saw too many young people dying of cystic fibrosis. We have no time to lose. The support of the CF community is extraordinary. But there is much more to be done if we are to move closer to beating CF and ensure a life unlimited.

As part of this challenge, we are asking you to make resolutions for the New Year that can help make a difference. I, for one, will make a clear commitment that the Trust will build on the improvements we have been introducing to make 2016 an historic year in our work to create a step-change in the impact we make.

I will also resolve to try and find the time to see more of the greatest football team in the world. That’s Manchester City, just in case you didn’t know!

Find our more about how you can use your New Year's resolutions to join the fight for a life unlimited at www.cysticfibrosis.org.uk/resolutions