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

Reaching Out From Parliament - Getting CF Heard

The Cystic Fibrosis Trust has been working closely with the Outreach team in the UK Parliament to look at how we can continue to ensure cystic fibrosis and the issues of the CF community remain on the political agenda. As part of this, we're teaming up with Outreach team to host a 'digital discussion' with Ian Austin MP, ahead of a debate on access to precision medicines. Lucinda Blaser of the Outreach Team explains more.

Hi! I’m Lucinda. I work in Outreach at the House of Commons.

I work with communities in their digital spaces to share ways for them to get involved in the work of Parliament and have their say on issues that are important to them. We are trying to break down perceived barriers to engaging with Parliament and one of the ways to do this is for us in Outreach to come to you both in person or digitally!

One of the ways the House of Commons is encouraging public participation with debates that are happening is through a digital debate. Digital debates are an outcome of the Speaker’s Commission on Digital Democracy, as part of their investigation into opportunities digital technology can bring for parliamentary democracy. In their final report it was stated: 

“We believe the public want the opportunity to have their say in House of Commons debates; we also believe that this will provide a useful resource for MPs and help to enhance those debates. We therefore recommend a unique experiment: the use of regular digital public discussion forums to inform debates held in Westminster Hall.”

Digital discussions are a way for people to get involved in a debate and discuss their thoughts and experiences with the MP who has proposed that debate. This is a chance for the public to be heard by MPs taking part in the debate and to find out more about the parliamentary process and what to do after this debate has happened.

Digital debates are opening up the process and helping the public to have their say bringing together information from charities, organisations and the House of Commons Library to one space for the public to discus.

On Monday 8 December  the cystic fibrosis community will have the chance to come together for a digital discussion, to share their stories about what it is like living with CF and what access to drugs means for you. Ian Austin MP will be taking part in the debate, and will use your stories to inform a special debate he is hosting in Westminster a week later, which you will be able to stream online.

Please take part in the digital discussion on Monday 7 December and make sure your voice is heard! 

You can join in the digital discussion with Ian Austin MP over on Twitter from 5-6pm on Monday 7 December by using the hashtag #CFDebate

Precision Medicines - Why?

Precision medicine is the talk of today, with a cancer drugs fund for Wales in the news and our own 'Stopping The Clock' campaign launching, calling for fair and prompt access to precision medicine for people with cystic fibrosis.

But what is 'precision medicine' and why does it matter? Dr Janet Allen, Director of Strategic Innovation, digs deeper.

On 20 January 2015, President Obama made this announcement in his State of the Union address to the US nation: 

“Tonight, I’m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes – and to give all of us access to the personalised information we need to keep ourselves and our families healthier.”

This was an exciting, bold statement that frames the future of treatments where individuals are treated as individuals. Recently Francis Collins, Director of the USA National Institute of Health, gave his vision of how this will be delivered, at the Faster Cures conference at the Milken Institute (pictured). He described the programme as “big, hairy and audacious – and so it should be.” 

Dr Collins argued that the time is right to do this mainly as a result of technologies coming together that will be able to inform treatments; for example genomics, environmental effects, personal wearable sensor technology. In the past, new treatments were approved based on the law of averages. For instance, how does this treatment lower the average person’s cholesterol compared to no treatment?

We need to move away from this to a state where the right drug is given to the right patient at the right time to achieve the right effect. 

This is the aim of precision medicine; we need to convert our thinking on how to keep people healthy and not see healthcare as only having a role in treating ill-health. A key component in the development of precision medicine is to engage with people as equal partners and not as subjects for study. This thinking will transform the way we do scientific research and is already creating the concept of ‘citizen scientists’. All of this will not happen overnight but the very mention of precision medicine in the State of the Union address creates momentum and it is clear that the National Institutes of Health are up for the challenge and ready. 

If you think that precision medicine is only for the ‘big’ conditions such as heart disease and cancer, see the extended quote from the State of the Union address: “21^st century businesses will rely on American science, technology, research and development. I want the country that eliminated polio and mapped the human genome to lead a new era of medicine – one that delivers the right treatment at the right time. In some patients with cystic fibrosis, this approach has reversed a disease once thought unstoppable.” 

These are truly interesting and exciting times and we need to ensure that cystic fibrosis remains in the vanguard of developing precision medicine to benefit each and every individual with the condition. This is audacious but that shouldn’t stop us. As another speaker said:

·         Don’t let perfection be the enemy of good.

·         Don’t be afraid of getting started.

·         Don’t be afraid to learn.

Find out more about our 'Stopping The Clock' campaign at www.cysticfibrosis.org.uk/stopping.

Gene editing: a therapy with masses of potential, but not only in treating cancer…

Last week gene editing hit the news with the story of young leukaemia patient Layla and a pioneering treatment at Great Ormond Street. Here Dr Anoushka de Almeida, Head of Research at the Cystic Fibrosis Trust, talks about the science behind the story, and the ground-breaking work being funded by the Trust into using genetic editing for treating cystic fibrosis.

We have recently heard on the media of clinicians at Great Ormond Street Hospital using the revolutionary technique of gene editing to treat a little girl, Layla, diagnosed with an aggressive cancer of the bone marrow. All other conventional treatments failed and this was Layla and her family’s last hope – and it seems to have worked.

So what did they do to produce such a miracle? Layla’s doctors teamed up with researchers at UCL, led by Prof Waseem Qasim, who has developed a novel approach to gene editing in immune cells (T-cells). This approach involves taking donated T-cells from a healthy person, modifying the genome using gene editing to enable them to attack cancer cells, and then introducing them into the body. Previously, these cells had only been tested in mice, so Layla was the first human to receive them. The  gene editing technique they used involved using a pair of 'molecular scissors’, a kind known as TALEN proteins, to ‘switch off’ certain receptors, making sure that the modified T-cells leave the healthy cells alone and only attack leukaemia cells. Genes were also edited out to make the new cells ‘invisible’, so that they wouldn't be destroyed by other leukaemia drugs.

 

It is still early to say whether Layla has been completely cured. The pharma company Cellectis, who collaborated with Qasim, plans to start full clinical trials early in 2016, the results of which will hopefully confirm that this isn’t just a one-off. If they are successful, this is a huge step forward for treating leukaemia and other cancers, as well as other conditions…

This leads me on to talking about the research that’s currently underway using gene editing in cystic fibrosis…

As we know, cystic fibrosis is caused when there are mutations in both copies of the CFTR gene. Recent studies have shown that the most common CF-causing mutation, F508del, can be corrected using a gene editing technique called ‘CRISPR/Cas9’ (a different method to what they used for Layla – but principally the same). The first step in this technique is to cut out the dodgy bit of genome using the ‘molecular scissor’ complex, and the second step is to repair it by using a donor DNA molecule containing the correct, non-faulty sequence. Now, this all works well in isolated cells outside the body, but the efficiency of the repair is very low. Also, difficulty arises when delivering both the molecular scissor complex and the donor DNA into the correct place in the body.

A different approach is being investigated by Dr Patrick Harrison and colleagues at University College Cork. This work, which the Cystic Fibrosis Trust is co-funding with the Cystic Fibrosis Foundation in the US, involves focusing on a small group of three rare CF-causing mutations. (These mutations basically disrupt the processing of the messenger RNA molecule which is normally needed to make the CFTR protein in cells). In all three cases, there is an extra sequence in the genome which interferes with the normal processing. Dr Harrison’s team is exploring using the gene editing approach simply to cut out this extra piece in the genome region that causes the problem. This CRISPR ‘knock-out’ strategy is more efficient than repair, and only requires delivery of just the molecular scissor complex; no donor DNA is required.

Dr Harrison’s group has teamed up with groups in Europe and the US to take this work further so that they can determine if all this hard work eventually leads to the normal CFTR protein being produced, resulting in normal functioning of the particular lung cells in cystic fibrosis.

So, off the back of the break-through in little Layla, gene editing has re-entered the limelight. It can be safely said that it is not only a promising prospect for cancer such as leukaemia, as her case unquestioningly demonstrates, but also for genetic conditions like cystic fibrosis. The Cystic Fibrosis Trust is fully supportive of this therapy and sees its exciting potential, and we would be keen to engage in further cutting-edge research in this area of genetic therapies.

 

 

 

 

 

 

Reflections on the Disability Discrimination Act

To mark this week's celebrations of the Disability Discrimination Act, our Policy Manager Nick Medhurst looks at what this has meant for those with cystic fibrosis.

It is 20 years ago this week that the Disability Discrimination Act 1995 was brought into law in the UK and it is being celebrated today as a watershed moment for equality.

It marks a moment in time when we, as a society, recognised our collective responsibility to actively support people who deal with daily challenges from a health condition or disability to achieve their ambitions.

The change in the law that it brought about, now covered by the Equality Act 2010, meant that for the first time people could request, and legally expect, for reasonable adjustments and arrangements to be made for them at work and in wider society to overcome barriers and maximise their potential.

So what has this meant for people with cystic fibrosis?

We recently surveyed 1426 people from our community about cystic fibrosis, their treatments, and what matters to them – perhaps you took part – and we are very humbled by the response we got and excited to share our findings with those who took part in the coming weeks and use those results, in every way we can, to make a positive difference to people’s lives.

One message that we received loud and clear was that managing cystic fibrosis is time-consuming (sometimes all-consuming), disruptive and sometimes impossible to balance with leading the lives that we hope for.

When fighting to keep as well as possible, people with cystic fibrosis will face hundreds and thousands of small challenges every week.

The Equality Act describes a disability as a physical or mental impairment that has a ‘substantial’ and ‘long-term’ negative effect on your ability to do normal daily activities

However, when most people hear the words ‘disability’ or ‘disabled’, I can’t imagine the image of someone with cystic fibrosis immediately pops into their head.

That seems to work both ways and many people with cystic fibrosis don’t always see the fit either. I’ve even heard that some people, likely eligible, choose not to apply for Disability Living Allowance (DLA) because they do not feel ‘disabled’.

The power of the Equality Act, and its predecessor, the DDA, is that it does not label us. It protects us, supports us and empowers us, when we can be at our most vulnerable.

For people with cystic fibrosis, it should be celebrated for the recognition it gives that people who face such challenges in their daily lives can achieve so much more if they live in a society which recognises and acts on unnecessary barriers to fulfilling ambitions.

However, we recognise that people with cystic fibrosis can and do still face discrimination and we would be interested in hearing about any challenges you have faced.

Looking back on Young People's Week

Last week we held our first Young People’s Week on social media, and we want to thank you all for your fantastic contributions. There was some great discussion about the challenges of juggling CF with everything else young people have to deal with, and we received some lovely comments from parents who were encouraged to hear young people talking openly about their condition and how they handle the demands of cystic fibrosis. We particularly want to say a huge thanks to Holly Van Geffen and Charles Michael Duke for their takeover day on Wednesday, which provided an honest and often hilarious insight into life with CF from two very different perspectives (if you haven’t seen Charles’ video on how to tell people you have CF, we strongly recommend you check it out below:

We launched our call for young advisors to help guide our programme of work with young people – over on Hack it Up we’re asking you to tell us what you think the role of an advisor should be and seeking ideas on how we can involve more young people with CF in our work, so if you’re aged 16–25 get on over and have your say.

We also posted about our Bright Ideas Awards where young people with CF who have a business idea can apply for small grants to help them turn their ideas in to reality.

Zainab Nasim’s blog on graduating from uni with a First in Pharmacy was inspiring stuff – as she says, it was all down to “hard work, determination and motivation”. We’ll shortly be asking more young people to tell us about educational experiences and seeking some young ambassadors to inspire other people with CF to achieve their goals.

As you may have seen, we’re currently recruiting for a Youth Empowerment Officer, to join the team at our office and help us create an exciting and innovative programme. We’re looking for a creative and upbeat individual with a genuine desire to support young people with CF to live their lives unlimited.

The week marked the start of our new programme of work with young people, but it’s only the beginning. We want to keep up the conversations to find out what’s really important to you – and how we can empower young people to live their lives unlimited by cystic fibrosis. Next steps will be to set up our youth advisory group to ensure all our work with young people is fully informed by their views, and also to develop our young ambassadors programme, as well as starting to develop some exciting new projects and initiatives led by young people in the new year. We'll be making young people's week a regular feature too so keep an eye out for ways you can get involved as we build on the great feedback we received in Young People's week. So please continue to share your views with us.

Education, Careers & CF - Zainab's Story

Today as part of our Young People's Week, we're looking at education & careers. Managing cystic fibrosis can be a challenge not just at home, but also outside of it, which is why we've asked Zainab Nasim to tell us about her experience, having recently graduated from university.
My name is Zanib and I have cystic fibrosis. I recently graduated from Manchester University with a degree in Pharmacy. Needless to say, it was tough studying at university and coping with cystic fibrosis. There were many times when I had to study in hospital and it was difficult, but you just have to stick by it. My final year, as you can imagine, was one of the toughest years. Most of you probably know the fine balance between your treatment and work/study life – it sure is hard to juggle both at the same time.

I just about managed to work it out in my final year by being very strict with myself, which meant I had to do all of my treatments and exercise at specific times as well as studying. I personally think that this routine is the one that got me to success – as well as hard work and determination! Of course, I moaned to my parents and siblings all the time!

After everything, I graduated with a first in Pharmacy and at the moment I am doing my pre-registration year, which is a training year before I qualify (hopefully). It is very different to what I was used to at university and it has been hard to get used to the routine. However, I have been able to maintain my health, thankfully. This is down to having a strict treatment routine.

But I always say this and will continue to say this: if anyone can do it, then why not me? Nothing is impossible – it’s just hard work, determination and motivation. Not to mention all of the tears, as well! But I can say that the sun still shines after a storm, and we just have to remember that.

Did you know people with CF can get help to go into further and higher education? The Jospeh Levy Education Fund provide grants to support people with cystic fibrosis.

Young People's Takeover: Charles Micheal Duke

Hi there!

My Names Charles Michael Duke, I'm a singer/actor from Bournemouth. I’m currently 20 years old, and I have cystic fibrosis. Oh, and I've been waiting for a double lung transplant since April 2015...

I was diagnosed with cystic fibrosis at birth and had a fairly healthy childhood, with around one admission for intravenous (IV) antibiotics a year. However, in 2014 it all started to go a bit downhill. I started to be admitted more regularly, and my lung function was rapidly declining.

Since 2014 I have been admitted several times,, spending around seven out of 12 months in hospital. In June 2014 it was decided that my health had gotten to a point where we needed to consider lung transplantation, so I was refereed for assessments. Unfortunately, my health didn't improve and I went through the assessments and was listed in April 2015, and have been waiting for a double lung transplant since. I’m currently spending two weeks in hospital in the hope that this will keep me 'well enough' for when my call comes, and I will be able to survive the operation and get through the rehab process.

Being a teenager with CF for me wasn’t too difficult; my CF never got in the way, and I was able to fit treatments around socials and going to friends’ houses. They were all aware of my condition and were accommodating of it. However, with my recent decline, had my health been in this state when I was younger it would have made things much harder. I can’t always go as out as I’m not well enough, I don’t do sports so would have missed out on lots of socials that involved things like football down the park. I wouldn’t have been able to stay out or over at a friends as I now require oxygen at night. Although my health isn’t in the best of states now, I would rather it happen in this stage of my life than my childhood/teenage years – I was able to have a childhood, which some people with CF aren’t able to say.

Young People's Takeover: Holly van Geffen

Baby Me

Me now, aged 23

Hello everyone!

So I have been asked to do a social media take-over today with the Cystic Fibrosis Trust to talk about being a young person with CF and the issues we face, and to talk about the help and support we need.

I am Holly and I am 23 years old. I was diagnosed when I was six weeks old and have the most common delta f508 mutation. In February 2015, aged 22, I received a double lung transplant; I had been waiting for two years, since the age of 20.


I think I will begin my story from the age of 12 as I think is the age I became fully aware of my CF and how it affected me. I was lucky as a child and only required intravenous antibiotics (IVs)  twice, aged five and 11! So up until the age of 12, CF was very much in the background of my life. As I moved to high school, I had to take on more responsibility for my own CF treatment. Although I still had a helper who would do my lunch time physiotherapy in the form of postural drainage with percussion, I was now in charge of my own enzymes at lunch time (at primary school my helper would also do that side of things for me). In the lead up to having this responsibility, me and mum discussed what I would have in my packed lunch and the amount of enzymes I would take with each item, so I felt well prepared and never had an issues of taking too many or not enough!

Outside of school, particularly in the evenings, I began to think doing my treatment was a chore and my compliance dropped. It was around this age that the hospital wanted to change my usual physio technique of my parents giving me postal drainage with percussion to using a breathing device. This gave me the control and responsibility of doing my physio which they saw as a good step toward independence. I tried the Pep mask and the Accapella, but I unfortunately didn't feel the same benefit and that I did with postural drainage, so would only do the physio sessions half heartedly! By the age of 14 my compliance was so bad with physio that my mum and dad fundraised and we were able to buy 'The Vest airway clearance system'. It was the best thing we ever did and an attitude changing moment for my young teenage self. The vest allowed me to still have independence in doing my physio, but not so much responsibility in carrying out the correct technique. Instead, I could sit and watch TV or read a book whilst the vest did the work for me. It sounds lazy, and it was, but that is the teenage brain for you! There are a lot of mixed opinions on 'The Vest', but for me it was a saviour in my compliance to treatments and was by far better than doing no physio at all.

At the age of 14 I took up cheerleading in my free time; I trained for seven hours a week over the course of three different nights.  It was great that I found a 'sport' that I loved and was passionate about at an age where often exercise decreases because it isn't cool! I would really recommend cheerleading to CF girls as a hobby that is exercise based but has a great social side to it and sense of achievement. I was a cheerleader for five years and took part in competitions with my team nationwide! It definitely kept me better than I would have been if I'd done no physical activity.

Me in the centre with my leg up! I was a flyer!

My health remained stable until I was 15 and I was diagnosed with atypical Mycobacterium abscessus. Until this diagnosis I had mainly had issues with ABPA (allergic response to Aspergillus fungus), which was treated with high-dose steroids and anti-fungal medicine. My symptoms changed from a wheezy tight chest with the ABPA to a loose crackly chest full of mucus with the mycobacterium.

This change in symptoms and the

With the trophy we won

infections in my lungs prompted a change in my treatments. IV's became a regular occurrence, because of this I had a portacath fitted because my veins couldn't cope with the long lines!

Between the ages of 15 and 19 the regularity of IVs increased from every six months, to every three months, to every month. At the age of 19 I was told I no longer grew the mycobacterium but was kept on a maintenance dose of the oral antibiotics it was sensitive to just in case.

With the mycobacterium gone my lungs became infected for the first time in my life with Pseudomonas aeruginosa. Now the competition with the mycobacterium was gone, the Pseudomonas took full advantage of colonising my lungs! I was unfortunate in culturing an extremely antibiotic-resistant strain of Pseudomonas, so treating it was very difficult. My lung function had dropped to 22% in July 2013 and I was referred for a double lung transplant. I was  reliant on permanent IV's for over two years to be in a stable condition until I got my transplant. Just a weekend off could cause the infection to flare up to the point I was bed ridden. My doctors came up with three antibiotic cocktails to rotate every two weeks; I was lucky my mum was my full-time carer so could do the IVs for me in the comfort of my own home instead of being in hospital permanently. In the two years leading up to my transplant I required oxygen and taught myself to insert a naso-gastric feeding tube for overnight feeding.

Since my transplant my routine has changed massively and I no longer need a lot of the CF treatments anymore. I don't have physio, nebulisers, inhalers, IV's or oral antibiotics anymore. I do however have to take anti-rejection medication and exercise is a key part of keeping my new lungs well and raising my lung function to its full potential.

Now you have a brief history about myself, I would like to welcome you to ask me questions about anything you like, from puberty to socialising, and letting people know about my CF to diet ideas – basically anything CF or transplant related you can think of, and I will try my best to answer from my own experiences.

I will be posting more issues I feel passionate about during the day!

Thanks for reading

Holly
x 

Why a Young People’s Week?

19-25 October is our Young People's Week! But why are we focusing on young people with cystic fibrosis? Jacqueline Ali, Head of Information & Support at the Trust, explains all!

We’re dedicating this week on our social media to all things to do with young people. This marks the start of a new programme of work the Cystic Fibrosis Trust is doing to engage with young people affected by cystic fibrosis and work together to empower and enable young people to live their lives unlimited by their condition.

We haven’t done a lot of work directly targeted at young people, and limitations posed by cross-infection can make it tricky to seek views using traditional methods such as focus groups. But that’s no excuse – there are lots of ways we’re hoping we’ll be able to engage with young people over the coming weeks, months and years – including making full use of digital technology to help us better communicate and make sure our work is fully informed by what you want.

We’ll be recruiting young people to advise us on our work as part of a new advisory group, so that we can make sure that what we’re doing is relevant and meeting people’s needs. Look out for details of this during the week. We’re also seeking young people with CF from all walks of life to be young ambassadors – so if you have a positive story to share about CF, whether it’s overcoming challenges, achieving your ambitions or excelling in education, or you would just like to share your story to encourage and motivate others, then we’d love to hear from you. Again, keep your eyes peeled for more on this during the week.

We’re also excited about this Wednesday when we’ll be handing over control of our social media to two young CF stars you may well be familiar with, so stay tuned…

Ultimately this week is all about finding out about the things that really matter to you and hopefully encouraging some discussion and lively debate. So do check in on our Facebook and Twitter pages this week and find out what’s happening, share with your friends and get involved in the discussions!

Controlling Inflammation: A view from NACFC

On the last day of the North American CF Conference this weekend, Dr Janet Allen, Director of Strategic Innovation at the Trust, attended a session focused on 'Anti-inflammatories in CF: Pathways to Therapeutics’. This session set the scene for a wider debate around the outcomes of the Cystic Fibrosis Foundation’s working group on the topic. In her blog on the session, you can find out more about the human body’s immune response to inflammation and what this means for people with cystic fibrosis.

The question is: how do we control and fine tune our body’s inflammation response to infection? 

Following an infection in the lungs, the body’s defence inflammation system responds to fight the invading bugs. The immune defence system is complex, but the primary cells recruited to start the fight are a type of white blood cell called neutrophils. These cells are not normally found in the lung, but following the detection of infection vast numbers move into the lungs from the blood and start to fight the harmful bacteria. Neutrophils are professionals and usually have all the tools they need to eat/kill the bacteria. 

If they succeed, these cells do their job and then die in a very controlled way. Or, if they sense that they are losing the battle against the infection, they send out signals saying ‘We need help’. More neutrophils and other cells of the immune system are recruited, leading to further inflammation. In people with CF, it is thought that this signalling for help carries on longer than it should (the “off switch” does not function properly) and, as a result, there is more inflammation than is necessary. This additional information is thought to damage the lungs.  

So, we need neutrophils to fight the infection but their very activation can lead to lung damage. There are ways of turning neutrophils ’on’ to do this job, but equally important there are signals that turn the neutrophils ‘off’. Most anti-inflammatory drugs stop the ‘on’ signals, as until recently we have understood less well the ‘off’ signals.

The dilemma is how to control the neutrophils to attack the infection and then stop without sending out ’help’ signals. This is a fine balancing act. In addition, the clinical trials to assess effectiveness will be quite long unless more sensitive measures of lung function are developed, which would enable the use of shorter trials with fewer participants than is possible using current techniques.  

So, the symposium addressed some of these key questions: 

• What are the best targets/drugs to test in CF inflammation?
• How can we be sure we will not stop the neutrophils from fighting the infection?
• What can we learn from previous studies?
• How can we design clinical trials to shorten their duration and still get a clear result?             

The session was well attended by CF clinicians and researchers from around the world and helped stimulate discussion and focus attention on this important challenge ahead of publication of the CFF working group’s guidance. This work will inform future research and therapeutic development globally and help to ensure it is done in a way that is safe and brings maximum benefit to people with CF. 

Dr Janet Allen is a member of the CFF working group which brings together leading experts in CF inflammation from around the world

Praising Arizona - Looking back at NACFC 2015

The past four days saw Ed Owen, Trust Chief Executive, lead our delegation to the North American CF Conference in Phoenix, Arizona. Here he gives us the highlights from the largest global gathering in the fight against cystic fibrosis.

As the 4,000 clinicians, health professionals, scientists, company reps, families and charities like ourselves pack up and head homeward across the globe, it’s worth reflecting what the 29th annual North American CF Conference has told us about the state of play in our international effort to beat cystic fibrosis.

Rebecca Cosgriff, Registry Lead, presenting at NACFC

The collective determination and purpose remains very strong and was evident throughout the four days of meetings, workshops, speeches and discussions. If anything, the sheer excitement and wonder generated by the scientific breakthroughs of just a few years ago has given way to a cool confidence at what can be achieved across a range of fronts.

This is matched, of course, with a realistic view that there is a long way still to travel before our job is done. But distant hope has genuinely shifted to steely belief and this conference showed how we, as an international cystic fibrosis community, are transforming the character and face of this condition.

A good illustration of this is to witness the attendance of the multitude of pharmaceutical and biotech companies here in Phoenix. Barely a decade ago, much of industry would have avoided investing in a ‘rare disease’ like cystic fibrosis. Today, you can’t move for industry talking about their development of new therapies, devices and diagnostic tools targeted at those with the condition.

All this is good news but not without its challenges. For example, Vertex announced this week further news on its pipeline of precision medicines with planned trials of new compounds to develop ‘triple therapies’ aimed at correcting the genetic defect of those with one or two copies of the F508delta mutation.

But, of course, we in the UK are soon to confront the more immediate challenge of ensuring Orkambi – a mere double therapy of ivacaftor and lumacaftor – is made available to those who can benefit.

A key figure in the development of the pipeline of gene-modifying therapies now coming through has been the Cystic Fibrosis Foundation (CFF)’s long-time President, Bob Beall. After 35 years in his post, he has made way for his deputy, Preston Campbell, and this conference was the opportunity for the cystic fibrosis community across the US and worldwide to mark his extraordinary legacy.

It was great to see him, and I was delighted to present himwith a bottle of fine Scottish whisky to demonstrate the thanks of the UK CF communityfor his work. With the Foundation’s therapeutic development programme, Bob has made a massive contribution to the changes we are seeing today.

But, as I said, our work is very far from done, and while we were here we sat down with Preston and his senior team to discuss a range of collaborations with the Foundation, including the prospect of longer-term innovation to develop a fundamental cure for cystic fibrosis using stem cell and gene editing techniques.

And alongside this transformational activity there is the needs of people with cystic fibrosis community today, and it was refreshing to hear Preston commit the CFF to a programme of activities to better engage those with the condition, to hear the diversity of views and experience of the people we are here for.

As I said in my speech to the UK CF conference in Manchester last month, cystic fibrosis for those living with it is not primarily a clinical or scientific issue, it’s a life issue – and we need to understand that in everything we do to help remove the barriers that prevent people with CF living the life they want.

Fighting for a life unlimited by cystic fibrosis, today and tomorrow, is what we are about, and I am pleased to report from the desert landscape of Arizona that this fight is alive, strong and growing.

Volunteering at the Cystic Fibrosis Trust

As part of the Trust's commitment to volunteering, we've had the pleasure of welcoming two interns from the US to our office this Summer as part of a Study Abroad in London opportunity. To give a taste of what volunteering with us here in Aldgate, Leslie Drennan, one of these interns, gives an insight into her experience.

Spending a summer working in a city four thousand miles from everything I was familiar with was both intimidating and exciting at the start, but any fear I had was soon quelled by the brilliant and friendly staff at the Cystic Fibrosis Trust. Coming in, I knew I would be working with the Information and Support team, but wasn’t quite sure what that would entail.

As soon as I arrived, I was welcomed by my supervisor, James Atkins, and spent the next few days getting to know my way around the office and the other people I would be working with for the next seven weeks. The Information and Support team puts together packets of information about cystic fibrosis (CF) for schools, children and parents, as well as monitoring calls coming into the helpline so they can give appropriate advice to those who call in. I was eager to help in any way possible, so they immediately involved me in every project they were working on. I did everything from researching methods to better serve the CF community to helping fill out travel insurance forms.

Along the way, I learned a great deal about CF and how it impacts not only those who have it, but every person that comes into contact with it. The effects are not felt equally by every person, as there are almost two thousand forms of the condition. Life can be quite difficult for those dealing with lung or pancreatic issues. However, I think the most essential thing I learned was that a person’s attitude towards CF makes all the difference, both psychologically and physically. I was given an entirely new perspective on my own health because of how much I take for granted on a daily basis.

Jacqueline Ali, Head of Information and Support, set up two CF clinic visits for me after learning about my interest in becoming a psychologist. This rounded out my experience at the Trust as I got to see first-hand at how clinicians and patients must work closely with one another in order to best combat CF. Every person I worked with went out of their way to make me feel welcome and useful.

Overall, my experience at the Trust is one that I will always remember. Whether learning about best practice in the workplace or how to integrate myself into another culture, I’ve gained an immense amount from my placement. In fact, I’ve enjoyed my role in this charity so much that I am now considering going into non-profit work once I graduate from university. I feel very fortunate to have had the opportunity to work for and with such driven, intelligent and pleasant people. My time at the Cystic Fibrosis Trust has easily been the best part of coming to London.

Want to give some of your time to the fight against cystic fibrosis? Find out more about volunteering with us at cysticfibrosis.org.uk/volunteer