Looking Back, Moving Forward.

Ed Owen, Chief Executive of the Cystic Fibrosis Trust, looks back on our 50th anniversary and the successes of those 50 years, and how the Trust will build on them as we enter 2015 and beyond.

The Trust's 50th anniversary was never cause for celebration. How could it be when so many with cystic fibrosis can still only dream of reaching such a milestone, and when the lives of so many young people like Emily Thackray, who died this week , are so terribly cut short?

But 2014 has enabled us both to mark the contribution of all our supporters and, most importantly, to redouble our effort to beat this cruel condition for good.

The decision of HRH The Prince of Wales to take on the Patronage of the Trust this year was a fitting reward for the extraordinary commitment and dedication of all parts of the cystic fibrosis community - people with the condition, families, supporters, fundraisers, campaigners and many others .

The tireless efforts of so many over five decades has helped ensure vital research is funded, NHS care has improved and over time, turned what was exclusively a childhood disease in the 1960s into one where the majority of those with cystic fibrosis in the UK are adults.

And I want to add my tribute too. So, on behalf of all of us who work at the Cystic Fibrosis Trust, I send a massive thank you for everything you, our supporters, do on behalf of those we are here for.

Yet with so many young people dying early, and with the lives of all those affected being limited so severely by the daily physical and psychological burden of cystic fibrosis, our collective community activity, unity and voice are as critical today as they have ever been.

We are at the beginning of a new era of opportunity in the treatment and care of cystic fibrosis. Research breakthroughs offer the prospect of gene-modifying treatments for many with the condition, and new technology promises new ways of improving health and wellbeing.

2014 saw further steps forward with the continued use of Kalydeco showing extraordinary results for those with the G551D mutation, and results of Vertex's Phase III trial into its ‘combination therapy‘ focused on those with two copies of DF508. The latter is soon to be considered by European regulators with a decision likely in late 2015.

The Phase IIb trial of a gene therapy product was also completed in the summer of this year. This is the latest development of work which has been generously supported by the cystic fibrosis community in the UK over many years, and we await the results with keen anticipation.

After a short delay caused by further work processing the trial data - this is the largest research study of its kind in the world - we expect the Gene Therapy Consortium to publish the final results early in 2015.

Alongside these promising developments, the Trust has been investing in other vital research projects aimed at tackling issues of real concern to those with cystic fibrosis. Three new Strategic Research Centres were announced early in 2014 focused on vital issues like pseudomonas and NTM - and we are due to announce a further three new SRCs in early 2015 ensuring that the brightest and best scientific efforts we can find are focused on the issues that really matter.

2015 will also see the development of the Trust's SmartCareCF programme to bring industry and academic experts together with people with cystic fibrosis, their carers and clinicians to develop new forms of care using smart technology and big data.

SmartCareCF is one of a number of ambitious programmes we at the Trust are developing as part of our renewed determination to beat cystic fibrosis. These include new research projects, better support for people with cystic fibrosis and more effective ways to campaign for new drugs, tackle funding shortages in the NHS and raise wider awareness of the condition.

In order to deliver these ambitious plans we must ensure the organisation of the Trust is fit for the task. So we are making a number of internal changes including the introduction of new skills and expertise in specialist areas of fundraising, research and communications; investing in new IT and looking at new accommodation options; and bringing in new talent at trustee level to ensure the Trust is being led effectively at this important time.

We are also improving the way we communicate, support and learn from our supporters, particularly those living with cystic fibrosis - and sharpening our message to raise wider awareness and impact. 

This recent film produced for our partnership with the British Comedy Awards is an early example of how we can do so.

50 years on and, with your support, the Trust continues to play a major role in improving the lives of people with cystic fibrosis in the UK. But we must now seize the opportunity to make transformational change over the next few years. With the help of the wider community here and overseas we can and will ensure that cystic fibrosis is barely more than a distant memory when the next 50 years comes around.

A cystic fibrosis 'cure'? - Understanding this week's research news

Following recent news reports of a ‘cure’ for cystic fibrosis being within reach, Cystic Fibrosis Trust Chief Executive Ed Owen discusses the promising research at the centre of the story, and the need to think big but stay grounded.

Nothing is more guaranteed to get all of us excited than stories of a possible ‘breakthrough’ or ‘cure’ for cystic fibrosis.

So a news item on Channel Four News this week heralding a research project led by Dr Anil Mehta in Dundee as a possible cure for cystic fibrosis has understandably caused a wave of interest among many of us affected by the condition here in the UK.

In a blog on Tuesday accompanying the news piece, the veteran broadcaster Jon Snow described the research as a “Eureka moment” that offered the hope of a “cystic fibrosis cure”. Many people called our office to find out more, dozens tweeted and hundreds posted messages on Facebook at what appeared to be a remarkable moment.

So amid all the excitement, what’s the reality?

First, it is important to note that no research paper has yet been published so we at the Trust have not been able to see the detailed analysis. But the facts according to the University of Dundee’s press statement are that in an early stage clinical study undertaken in Italy, medics trialled the combined use of two drugs already licensed for other conditions - Cysteamine, and epigallocatechin gallate (EGCG) – involving 10 people with cystic fibrosis with two copies of the DF508 gene.

The University statement says that the study found that the two drugs given together reduced inflammation in 9 out of 10 of the patients’ airways and also dramatically reduced their sweat chloride levels. Obviously, then, the research looks promising. But it’s at an early stage trial and used only a very small sample.

I had the pleasure of speaking with Dr Mehta on Wednesday and he agreed with me that talk of a potential cure was misplaced. He acknowledges that his work is at an early stage but wants it to now go forward to a larger Phase 2 research study involving 120 patients. He is planning to submit an application to the Government’s Medical Research Council (MRC) which supports this kind of clinical research in the UK, although there are a number of regulatory hurdles the work needs to overcome first.

As a result of the extraordinary support we receive from thousands in our community, the Cystic Fibrosis Trust is currently investing in a wide range of research projects aimed at improving and transforming the lives of people with cystic fibrosis. This has helped fund earlier stages of Dr Mehta’s work and our new Venture and Innovation Awards created last year are targeting funds at projects like this one as a way of bringing in even larger sums of money from the Government and other quarters.

Dr Mehta and I discussed these funding arrangements and – once we have analysed the full details of this work – we stand ready to offer such an award as part of the process of bidding for MRC funds.

But, three days on from the story being broadcast, I confess to feeling disappointed at the way it was covered.

Talk of breakthroughs and cures make great headlines. But such hyperbolic coverage risks the unwitting manipulation of the emotions and passions of those of us desperate to believe that there is an imminent prospect of being freed from the terrible clutches of cystic fibrosis. Put bluntly, such stories bring into sharp focus the stark contrast between longer life and an early death.

I say this not to pour cold water on all our hopes because this particular project looks promising – and I am hugely optimistic about the wider future for cystic fibrosis. Kalydeco is already correcting the basic genetic defect of cystic fibrosis for four per cent of people with the condition in the UK – and, with the active support of the cystic fibrosis community, I believe we can help ensure that new transformative therapies and treatments will be introduced over the next decade that move us closer to our goal of beating cystic fibrosis for good for all.

But developing these drugs is expensive and often a long slog – and what might look hopeful at an early stage of development cannot be assumed to be a guaranteed success in clinical terms further down the line.

So the lesson to us all from this week is let’s keep thinking big, but with our feet on the ground – even if, sometimes, media headlines tempt us to do otherwise.

From Atlanta to the Summit

Last week saw the annual North American Cystic Fibrosis Conference take place in Atlanta, USA. The world's largest gathering on cystic fibrosis saw clinicians, researchers and carers came from all over to discuss the latest developments and progress towards beating cystic fibrosis for good. The Trust sent over four delegates, and Ed Owen, the Trust's Chief Executive, offers his thoughts on the outcomes from the three-day event.

“I have no doubt that we will reach the summit.” These were the words of Dr Mike Boyle, associate professor of medicine and director of the Adult Cystic Fibrosis Program at the Johns Hopkins School of Medicine in Baltimore, speaking at the 2014 North American Cystic Fibrosis Conference last week comparing the extraordinary progress that has been made in beating cystic fibrosis with the challenge of climbing Mount Everest.

For Mike, the discovery of the cystic fibrosis gene in 1989 by researchers from the US and Canada – with a little help from our very own scientists here in the UK – was the equivalent of reaching Base Camp. Since then, we have been moving up the mountain with significant discoveries.

The development of Kalydeco as the first therapy to treat the basic genetic defect, and the pipeline of new combination therapies are major breakthroughs – and other work like gene therapy, stem cell research and genetic editing will get us closer to reaching our goal.

Tragically, these developments cannot come soon enough for those living with the condition – and, for many, they will have come too late.

But these advancements are testament to the extraordinary power of the cystic fibrosis community.  When people with cystic fibrosis, their families, clinicians, scientists and others work together, we can and do change the world.

And that community is truly global, as witnessed at last week’s conference. More than 4,000 people from across the world converged on Atlanta to discuss the latest developments in research and care, and to confirm our collective focus on beating this cruel condition.

The cystic fibrosis community here in the UK and the Cystic Fibrosis Trust play a key role, not just because we represent more than a 10th of the global CF population; but because of our active and informed community, our dedicated clinical professionals, our expert scientists and established industry base.

The combined resources of the UK, Europe, North America and Australasia are massive and we therefore took the opportunity to meet key people in the CF world to build new collaborations. This included catching up with a number of sister organisations, including the Cystic Fibrosis Foundation (CFF).

Bob Beall and Preston Campbell have led the CFF for well over two decades, and have done more than many to advance our collective cause.  We discussed a series of potential exciting collaborations in research and care which I hope we can bring to fruition. They were impressed by our investments in research on pseudomonas, NTM and other projects and want to work closely with us.

We also met many of the established pharmaceutical companies including Vertex, Gilead, Forest, Insmed and Roche, as well as smaller companies like Verona with which we are hoping to build closer links to develop new drugs and therapies. Also centre stage in our discussions with industry and clinicians were our plans to develop a new model of care with remote digital technology enabling people with cystic fibrosis to take greater control of their lives and improve their health and wellbeing.

There was disappointment in Atlanta that the UK Gene Therapy Consortium was unable to present the results of its Phase II study. This is work we in the UK cystic fibrosis community have given so generously towards over many years and there is great anticipation of the outcome. But there was understanding across the conference that it was vital that the data, when published, should be robust and complete.

In gene therapy, as with so many areas, collaboration is essential to make progress. That was the constant theme of the Atlanta conference and, with the support of the UK community, the Cystic Fibrosis Trust will play a leading role in improving and transforming the lives of all people with cystic fibrosis.

I return to the UK more determined and more confident than ever that we can reach the summit and achieve our ultimate goal of beating cystic fibrosis for good.  It won’t be tomorrow or even in the next few years. But we will continue to make great progress and, with the right support, we will get there.

For those who want to see more from NACFC, you can now watch recorded videos of the live streamed sessions.

First Impressions from Atlanta

Today sees the start of the North American Cystic Fibrosis Conference (NACFC), the largest cystic fibrosis gathering in the world, in Atlanta. We've sent four delegates from the Trust to the event and our first blog comes from Rebecca Cosgriff, our new Registry Lead, on her first impressions from being a first time attendee to NACFC
This is my first visit to Atlanta, the home of CNN and Coca Cola. But, more importantly, it's also my first time attending the North American Cystic Fibrosis Conference. After being appointed as Registry Lead back in August, this conference has been an excellent baptism of fire into a 4,000-strong sample of the international cystic fibrosis community.

The atmosphere is positively fizzing over with enthusiasm for helping people with cystic fibrosis to have the same opportunities as those without it. Much of the content over the coming days is rooted in the aspiration for people with CF to be held back no more by a cumbersome medical regime, discomfort, or fear.

As the person within the Cystic Fibrosis Trust responsible for the UK CF Registry, the database that records and reports on the health and care of people with CF, it's been great for me to meet international counterparts. The prelude day to the conference has seen a flurry of Registry-based activity, illustrating the importance of these projects to improve care and outcomes for people with cystic fibrosis.

First up was the Cystic Fibrosis Foundation's Registry Coordinator's luncheon, which saw presentations from the US Registry team on data quality, future plans, and research. It was great to see that that our ambitions for the UK CF Registry are aligned with theirs, with a little friendly rivalry helping to drive impact for people with cystic fibrosis. The dedication of the Registry coordinators was evident; something which is echoed by those responsible for entering and checking data in the UK. Some attendees had been participating in the US registry since its conception in the 1980s!

Later in the afternoon I was able to attend the inaugural CF Registry data harmonisation meeting; an initiative aiming to help international registries work together to evaluate care and detect ways to get the best outcomes. Work of this nature enabled the recent publication of a UK/US data comparison, which found important differences in the outcomes for paediatric patients in the two nations. The meeting saw registries from all over the world, including Brazil, Spain, Australia and of course the UK, represented. This further illustrates the commitment of Registry teams to enable the comparison of international data. We came away from the meeting with new priorities, and plenty of volunteers to form the expert groups that will seek to address them.

With the conference officially commencing tomorrow, I already feel I have the beginnings of a valuable global network, and plenty of great ideas, that can be used to maximise the benefits of the UK Registry when I return to the Trust next week. 

Time To Talk Organ Donation

From December 2015, deemed consent of organs will be granted in Wales in the event that someone passes away, unless they have opted out or said otherwise to their loved ones. As the Welsh government works to prepare people for the change in the law, Kayleigh Old, Public Affairs Officer for Wales at the Cystic Fibrosis Trust, explains why it’s ‘Time to Talk Organ Donation’.

The Cystic Fibrosis Trust is supporting the ‘Time to Talk Organ Donation’ campaign, the Welsh Government’s initiative to encourage people to let their loved ones know their wishes regarding organ donation in the event of their death.

As the people of Wales get closer to the historic move to a soft opt-out system, it is vital that all of us, wherever we live in the UK, talk to our families and friends about what we want to happen after we go.

Losing someone you love can be one of the most emotional, confusing and painful experiences, and being asked about someone’s wishes after they have died can add to that stress and sense of loss. By talking your feelings through clearly with your family, you can remove any doubt they may experience in the unfortunate event of your death, and ensure that your wishes are carried out.

With the Trust’s commitment to improving transplant rates for those with cystic fibrosis, this initiative is very encouraging; we believe that the Welsh Government is leading the way in organ donation. We are hopeful that their new law will bring about awareness and a rise in transplantation rates across the UK, as there will be more organs available for donation.

Currently, one in three people on the transplant list for lungs, dies waiting. Our Hope for More campaign highlighted ways that this situation could be addressed, including a national lung allocation system and expanded use of extended criteria lungs. 

We are continuing to work with organisations that can take this crucial work forward, including transplant teams, cystic fibrosis services, legislative bodies across the UK and the NHS Blood and Transplant Group.

In 2015 the soft opt-out system will become law, and we hope that this will pave the way for the other UK nations. Before then, we must use this opportunity to tell the people we care about most what we believe. As the campaign says, it’s ‘Time to Talk Organ Donation’.

To find out more about the Soft Opt Out, please click here http://www.organdonationwales.org/.

Cystic Fibrosis Trust research sandpit on adolesence

Jessica Jones, Policy Adviser at the Cystic Fibrosis Trust, reports back from a 48-hour residential research 'sandpit' devoted to the subject of adolescence. Research sandpits are a key part of the Trust's research strategy, and bring together experts from within and outside cystic fibrosis to stimulate new thinking and innovation.

Last week I spent 48 hours holed up in a remote hotel with 24 top researchers, clinicians, specialist cystic fibrosis (CF) nurses, clinical psychologists, behavioural insight experts and CF community representatives; and not once did they tell me to do my physio!

I was a strange child – never wanting to be a famous pop star, instead I imagined notoriety being reached through being a famous research scientist who cured diseases. It was particularly exciting therefore to be asked to attend the Trust’s adolescent sandpit.

The innovative event drew together 25 experts from across the CF disciplines, and from as far afield as the United States; throwing together an eclectic mix of disciplines and asking them to leave their usual roles at the door. I was there to remind everyone of the patients in their clinics; the worries that may not be expressed; how much nebulising tobramycin tastes like paint stripper, and that people with cystic fibrosis have no more hours in the day than anyone else.

Challenges facing the participants included why treatment adherence drops off at adolescence and how to address this; how to accurately measure progress in changing bodies and the right kinds of support to offer patients and their families at this already challenging age.

Being a part of the event was a privilege. There was a constant buzz in the room as animated debates were held; coffee-fuelled discussions continued into the evening, and individuals were able to take a step back from the daily grind to take a fresh look at the issues at hand. Hopefully those 48 hours will have given time for the seeds of ideas to begin to germinate, and grow into something which will push back the decline in the health of those with cystic fibrosis, and stop adolescents having to worry about their futures.

Cystic fibrosis registries: behind the headlines

A study in BMJ Thorax has revealed that children and young people with cystic fibrosis in the UK  have poorer lung function than their peers in the US. Here Rebecca Cosgriff, Registry Lead at the Cystic Fibrosis Trust, explains why the study illustrates the power of clinical registries and collaborative working.

Today saw the publication of an important collaboration between researchers, which used cystic fibrosis (CF) registry data from both the UK and the USA. This marks a milestone in the increasing usefulness of patient healthcare registries.

There are cystic fibrosis registries running all over the world; including Europe, Australia and the United States. The UK CF Registry is funded and managed by the Cystic Fibrosis Trust; an indispensable research and quality improvement resource made possible by the generosity of donors to the charity.

All of these registries collect data on people with cystic fibrosis, tracking their care and associated health outcomes. However, because the healthcare system of each country is different, there is inevitable variation in the type of data held by each registry, as well as how it is collected. This UK and US data comparison marks the most comprehensive attempt to-date to meaningfully compare two different CF datasets. Complicated statistical methods and clinical expertise were needed to ensure that, as far as possible, this research compared apples with apples, not apples with pears!

Now that these methods have been worked out, we can start to detect differences between patient characteristics, models of care, and clinical outcomes. For me, the important part of this paper is not the fact that there is a three per cent difference in average FEV1% predicted between the US and the UK. Rather, it is remarkable that we now know that this difference exists, and can start to understand why that might be the case.

This demonstrates the power of clinical registries, and collaborative working, to influence medical practices for the better; enabling healthcare providers in the NHS to strive for excellence compared to their counterparts both nationally and, now, globally.

Let's Do Lunch!

All this week the Trust has been trying to raise awareness about nutrition for children with cystic fibrosis, especially as they all head back to school.

Mary Judd, Paediatric Respiratory Dietician at the Royal Brompton has put together this blog, including some ideas for how to mix it up a bit when packing your child's lunch.

Every child with cystic fibrosis has different nutritional needs and requirements. Generally speaking their nutritional requirements may be higher than their friends because they need extra calories and nutrients to help them fight infection and keep their lungs strong, particularly if they get sick with colds or the flu.

Lunch is an important meal as it helps children maintain their energy and concentration levels through the school afternoon. With the right balance of nutrition, extra fat and calories, and prescribed supplements, children, teens and adults alike can all help to keep themselves healthier.

Here are some ideas that our patients and their families have told us work well in lunch boxes, especially when you get bored of the traditional sandwich!

• Think about pasta and pesto, salads or cheese and crackers to mix things up a bit.
• Gone are the traditional days when people wanted to just have chocolate bars and crisps (although these are good too). Flapjacks or shortbread can have as many calories as a chocolate bar. Also, add Mini Cheddars, Twiglets, pastry and cheese straws.
• Mix any wrap or potato filling with mayonnaise or olive oil to increase the calories – such as tinned tuna or salmon, egg, or chicken (sliced or left over roast).
• Babybels, cheese strings or cheese triangles can be thrown into any lunch box as an extra.
•  Dessert pots (Cadbury do different versions) or mini rice and custard pots. These are great because they tend to be high in calories. Don't forget to pop a spoon in!
• Scone, malted fruit bread or hot cross bun with butter or cream cheese and jam.
• Peanut butter can be tasty and high in calories but check the school’s policy on nuts.
• Left over pizza or quiche.
• Samosas.
• Picnic plate – salami/ham, cheese cubes, crackers, dips, vegetable sticks.
• Dried fruits – especially yoghurt or chocolate-covered.
• Bagels (cinnamon and raisin or blueberry; with cream cheese works quite well too).
• Fruit juice or yogurt-based smoothies are a great way to add some vitamins or minerals. Also milkshakes (Frijj, Nesquik or Yazoo) are usually welcome additions. However, the dietitian may sometimes recommend a higher calorie version of milkshake on prescription.

Transformational Treatments in Cystic Fibrosis

Today is the UK CF Conference, Britain's largest event dedicated to multidisciplinary cystic fibrosis work. We were honoured this morning to have Preston W. Campbell III, MD, Executive Vice President for Medical Affairs at the Cystic Fibrosis Foundation (our US counterpart) deliver a keynote on transformational treatments. Below, Dr Campbell gives more insight into this groundbreaking work.

It is an exciting time in cystic fibrosis. We have achieved remarkable improvements in the health and survival of those living with CF in the U.S. and U.K. over the last several decades, primarily due to advancements in CF care and the development of new therapies targeting the symptoms of CF. 


By the late 1990s, we had learned a great deal about the recently discovered CF protein, CFTR, but that information had not been translated into new CFTR-based therapies. To spur the development of new treatments, the CF Foundation began a new program focused on applying new drug discovery technology to treating the basic defect—the faulty CFTR protein—and funded a number of novel research collaborations. 

Vertex was successful in identifying small molecule compounds that targeted CFTR, and in 2012, ivacaftor was approved for patients with the G551D mutation after clinical trials demonstrated that it was safe and had remarkable clinical benefits. 

It is likely that ivacaftor will treat 15% of CF patients as it is approved for other CF patient groups. The most common mutation, F508del, has an additional problem and requires a different approach to treat effectively. 

Recently, a Phase 3 clinical trial was completed in patients with two copies of F508del, who were treated with ivacaftor in combination with another potential therapy, lumacaftor. Patients on the combination drug experienced improvements in lung function, reduction in pulmonary exacerbations and improved weight gain. 

This combination therapy will now be submitted to regulatory agencies for approval for patients with two copies of F508del (50% of patients). Another corrector is being evaluated for patients with only one F508del mutation. 

In addition, a robust new screening effort has been underway for over three years that will improve the efficacy of treatment for those with one or two F508del mutations. New screens are also ongoing for those with rare mutations, including nonsense mutations. If these programs are successful, 98% of CF patients could potentially be treated with these transformational therapies. The remaining 2% of the CF population will need other approaches, such as gene therapy, that replace CFTR or strategies that bypass the defective protein. These potential new therapies hold great promise for the CF community, and I am proud to be a part of this effort.

Getting Young People Heard

Today is International Youth Day, a United Nations initiative that raises awareness of important issues affecting young people. The Cystic Fibrosis Trust is proud to support this important programme, and Dr Erika Kennington, Head of Research at the Trust, would like to tell you about some of the work the Trust has been doing this year to engage with young people living with cystic fibrosis, including recently on our social media channels.

Young people form an important and sizable section of our community, and yet as a group it is one we don’t hear from very often. In partnership with the Association of Young People’s Health (AYPH), we have been inviting young people to share their experiences of living with cystic fibrosis, the challenges it brings and the impact it has on their lives.

We carried out a series of interviews via video chat and set up a Facebook group to follow up as well as opened up the conversation via Twitter, to make it as easy as possible for people to share their stories and experiences.

Thank you to everyone who took part, and told us about what it means to be a young person living with cystic fibrosis today. Your input provided the basis for a small booklet of messages we are currently putting together, which young people can use as a resource to educate, inform and engage with key groups such as teachers and clinical staff..

For example, one of the things that came up was this message, for staff at CF centres: “Take the time to explain important things to us – like fertility, segregation of patients with CF and transitioning to adult services.”

There is also advice to take and pass on to other young people with cystic fibrosis, such as: “Although it feels boring and difficult sometimes, taking medication and doing physio is the best way to manage your illness.”

And of course, there are tips for parents: “Be willing to let go and let us take control when we are ready – encourage our independence so we are comfortable by the time we have to be in charge of our own care.”

We are very excited about publishing this booklet, and we look forward supporting these onwards conversations.

You can find out more about what it’s like to be a young person with cystic fibrosis in ‘...the rest is up to me’, a video featuring teenagers with cystic fibrosis and read the conservation on Twitter we had in July with the hashtag #CFTyp.

Genomes and Genetics

Dr Janet Allen, Director of Research & Care, explains why the launch of the 100,000 genome project and the move towards personalised medicine are so exciting.

This morning the 100,000 genome project was launched. This is an exciting and ambitious programme that will put the UK at the forefront of applying genomics to develop personalised or stratified medicines. Personalised medicine is also now called ‘precision medicine’ and this is a term that you will probably increasingly hear about. 

So what does this mean? For many diseases, genetics is known to play an important role. If we understand the genetics better, we may be able to design treatments for individuals in a more targeted way. This is what is known as ’personalised medicine’. So, the classic example is cancer.  In the past, a cancer was defined by the place it was found, so breast cancer, colon cancer, lung cancer. In the last decade or so, we have realised that not all cancers are the same and so a lot of work has been done to classify each cancer more specifically and this classification would then define the nature of the treatment. The 100,000 genome project for cancer is taking this approach to another level and will provide a detailed fingerprint of an individual’s cancer. If we understand the genetic make-up, we may begin to understand why some cancers grow slowly or fast, or respond to treatment or some people are more vulnerable than others. The 100,000 genome project is hunting for those genes.

Cystic fibrosis is different. We already know which gene causes the condition. The gene for CFTR was found in 1989. We also know the majority of the mutations that result in cystic fibrosis; the common mutation in the UK is F508del. In fact, in the area of cystic fibrosis, we are way ahead of everyone else as we have personalised medicines already. Kalydeco (ivacaftor) is a perfect example. It can only be prescribed to people with a particular mutation, G551D. The recent combination trial was only run in people with two copies of F508del; people with only one copy do not respond to the combination treatment. There are other drugs in development that may benefit people with an ’X’ in their genotype. This is personalised medicine in action. 

So what of the 100,000 genome project? As this is aimed at identifying disease-causing genes, the immediate value to cystic fibrosis is harder to understand as we know the gene that causes it. However, we have started a dialogue with academic scientists to explore. For instance, it is clear that the nature of cystic fibrosis and the way it affects individuals is not totally dictated by the nature of the mutation. People with the same mutation can have differing severity of the condition. To some academics, this implies there may be other genes in the genome that modify the condition to cause milder or more severe cystic fibrosis. There are also some individuals where the mutation in CFTR has not been found despite using the most recent tests. Again the 100,000 genome project could help unravel this.

Just to be clear, this is a massive and exciting project but the scientific challenge really should not be underestimated.  The human genome is enormous – it consists of 3.3 billion separate data points for any one person.That is 3,300,000,000. Each one has to be ’read‘ correctly and recorded. That is the first step; only then is it possible to start to explore how this information informs any clinical condition. Just to put this in perspective, the CFTR gene is 1,988,702 data points long, and of this the bit that matters and is currently tested is 6,129 data points.  

Perspectives on the UK CF Registry

Yesterday we released the latestdata report from the UK CF Registry, giving an insight into cystic fibrosis and life for those with the condition in the UK. The report also shows how far we have come in beating cystic fibrosis for good since 1964, when 90% of people with the condition would die before they were 10.

To put perspective on what this data actually means, we’ve asked Sally Smith, a parent of a child with cystic fibrosis, and Dan Longhurst, a 21-year-old student with the condition, to share their stories and hopes for the future

Sally

As a parent of a pre-teenager, I feel the latest Registry Report is very positive and it’s great that CF adults and parents of children with CF agree to be a part of the UK CF Registry. It gives the Cystic Fibrosis Trust valuable insight into patients’ lives enabling their research into the disease and raising the standard of care across all CF centres.

I was pleased to see that there has been a decrease in pseudomonas across the age groups – it is a word that parents dread hearing at their clinic appointments. My daughter took part in a research trial in 2012/13 which looked at taking preventive measures to halt the growth of pseudomonas in the early stages of a chronic cold. As isolating as CF is, for both children and parents, the new protocols instigated across clinics with regards to cross-infection and early treatment have obviously helped. 

As a mum, your natural instinct is to ‘wrap them up in cotton wool’ when you first receive the diagnosis but it’s not really an option. And as I enter into those teenage ‘non-compliant years’, I find the news that 70.9% of people over 16 are in employment or further education encouraging – I just need to find more interesting and fun ways for her to enjoy physical activity.

Dan

I'm Dan, a 21-year-old university student from Essex studying Animal Conservation & Biodiversity, living my life to the fullest with my old pal cystic fibrosis.

I was diagnosed with CF when I was just a month old, and had to battle the highs and lows of the condition all my life (obviously). I’ve never let it stop me accomplishing anything I’ve wanted to do in life.

The first of the two distinct parts of my life that I found the hardest was  when I was at secondary school, when I realised I was not like everyone else. Because I didn't know any different than having CF when I was younger, I was oblivious to the difference between me and my friends, but growing up and releasing I was "different" was hard.

The second was when I went to college: becoming more independent with my treatments and balancing my social life was a struggle.

The hardest part of having CF I feel is not the treatments or the inconveniences of being ill. I found, when I was younger, it was being made to feel different from everyone else, constantly explaining to new people what CF was and why I do certain things (such as taking Creon when I eat), and not having/knowing anyone that was going through what I was (due to cross-infection).

My Mum (Tina), Dad (Martin) and family have always have been there to support me when I have been unwell. The biggest turn around in my health and lifestyle when coming to terms with having CF was meeting my girlfriend, Rosie, who has convinced me that I am no different to any other person and without the condition “you would not be Dan”. Now my outlook is completely different on life and I just simply “get on with it”.

These two perspectives show how the hopes of parents like Sally become the reality for people like Dan. Share your story too and help us show the progress made in beating cystic fibrosis for good.

Understanding Median Predicted Survival

This year’s UK CF Registry Report shows that the median predicted survival for people with cystic fibrosis is a bit lower this year. To explain this change, Dr Janet Allen, Director of Research and Care, explains what we mean by median predicted survival and how “wobbles” happen.

You will have noticed in the annual report for the Registry that the median predicted survival is 36.6 years and that this is lower than the 43.5 years reported last year.

First of all, it is important to understand that median predicted survival is not the same as life expectancy. Median predicted survival is calculated from the registry data and represents the age beyond which half of the people in the UK CF Registry today would be likely to live. The annual values for median predicted survival tends to wobble around from year to year as the calculation is sensitive to the number of deaths recorded in any one year and there is a tendency to over-interpret the yearly wobble. This year the value appears to have dropped because the number of deaths recorded rose to 146 cases (of over 10,330 people on the Registry, representing around 1% of the UK CF population). A similar downward blip was observed in 2009 when the median predicted survival was 34.4 and the deaths recorded at 141. Apart from these dips, the trend in median predicted survival continues to rise and it may be better to report the overall trend rather than the year to year variation.

By way of an analogy, it may help to think of a country’s economy.

Over the past 50 years the UK economy has greatly, and largely consistently, increased, and yet there will be patches where, for a number of reasons, it contracts.

However when it does this, it never goes back to the start. It’s a case of always taking several steps forward, but every now and then one or two back.

The median predicted survival for people with cystic fibrosis has done the same and increased over the past 50 years, and yet, as happened in 2009, last year there was a noticeable but not statistically significant decline, even though the trend remains upwards.

Remember that when the Trust was founded in 1964, 90% of people with cystic fibrosis died before the age of 10.

Life expectancy answers a different question; for a child born today how long could they be expected to live?

These are complex calculations and are not calculated every year. The last report for the UK was over 20 years ago when it was calculated that life expectancy for a newborn child with cystic fibrosis in 1991 was in the order of 40 years. It is now estimated to be over 50 years for a baby born today, and the Trust is exploring having these calculations done again to show how far we have come since 1964.

You can find the UK CF Registry Report over on the Trust’s website both in Summary Form and as a Full Data Report.

Keeping Cool With Cystic Fibrosis

As temperatures soar, Public Affairs Officer Lynsey Beswick presents her own guide to keeping cool with cystic fibrosis.

So the British summer has finally arrived. But with it the government has issued some important health warnings for those of us who may suffer with long-term health conditions.

So whilst I can confirm that I have been frantically routing to the back of my wardrobe to find my shortest shorts I have also been contemplating some of the advice and what it will mean for me and my cystic fibrosis.

Whilst the government have put together a heat wave plan I have been carefully considering my own CF-proof plan.   

Not only am I armed with inhalers (in every handbag I own) I also plan to ensure that I am extra careful about remembering to take my doses along with any other nebulisers or breathing medication.

We all know that the sun causes sweat – and people with cystic fibrosis love to sweat – so I have also been frantically digging out the salt tablets which are usually only reserved for holidays abroad; to avoid any heat-induced cramps which can be common for people with cystic fibrosis.

 

I have also started to take an antihistamine to act as an anti-inflammatory and to help ensure that any allergies are kept at bay as this can also play havoc with my chest and make me feel worse.

As well as ensuring I have the obvious – lots of fresh water and a good dollop of sun cream – there are some other things that might not be quite so obvious. For example certain antibiotics that I take for my cystic fibrosis can cause photosensitivity – this could mean the difference between a glorious tan and a slightly less glamorous shade of beetroot.

I will certainly be taking things at a slower pace and avoid over exerting myself – a great excuse to get out of going for my evening run – that will have to wait until the weather is cooler I’m afraid!

Instead I will be remaining inside during the hottest hours of the day with my feet up (hopefully), windows open and a fan flowing to keep me as cool and as comfortable as possible. I will also keep all medications in the shade too – particularly digestive enzymes as the heat can apparently damage them and make them ineffective. 

I also need to monitor my food intake – hot weather often means I lose my appetite so making sure I have snacks to hand or supplement drinks will help to ensure I’m still getting essential calories and that I keep my energy levels up.

Of course at the first sign of feeling unwell or breathing difficulty I do have my specialist CF team on speed dial – but I am hoping that by taking sufficient precautions I can avoid any drama and enjoy this great weather while it lasts!

As Lynsey suggests, if you do feel unwell it is important to contact your specialist CF team immediately.

Setting the Parliamentary Agenda on Transplants

James Barrow, Head of Public Affairs, talks about the success of yesterday's debate on organ donation and transplantation in Westminster Hall.

Yesterday’s parliamentary debate on transplantation was an important moment for our community.  Since the launch of our Hope for More report we have been campaigning to improve access to lung transplantation for people with cystic fibrosis. Some 4,500 supporters emailed politicians from across the UK, asking them to urge the Government to take action and our Public Affairs team has met with over 60 MPs, AMs, MLAs and MSPs to discuss the report. This activity triggered the debate in national transplant week.

During the debate MPs raised the use of extended criteria lungs, the ability of surgeons to downsize lungs and the importance of new technology in preserving and reconditioning lungs. Cystic fibrosis was mentioned no less than 20 times during the 90 minute debate.

NHS Blood and Transplant (NHSBT) is now reviewing its existing lung allocation policy and is modelling a national allocation system.  And the Minister for Public Health, Jane Ellison, has expressed concerned at the number of deaths on the waiting list. NHSBT is set to make an announcement on the outcome of its review in the autumn and we will continue to campaign hard on this issue.

Thank you to everyone who continues to support our campaign – your help has made a real difference.

And thank you to those MPs who took part in the debate: Jim Shannon MP, Margaret Ritchie MP, Caroline Nokes MP, Kerry McCarthy MP, Jason McCartney MP, Glyn Davies MP, Madeleine Moon MP, Kate Green MP , Luciana Berger MP, Jane Ellison MP.

If you missed the debate a full transcript is available here.

Seven Things You Learn on the Transplant Waiting List

Robyn has been on the waiting list for a lung transplant for nearly five months. She takes IV antibiotics to keep her as well as she can be, and sometimes has to be on oxygen for long periods of time. A single mum, Robyn is coping with the support of her wonderful daughters Sophie, 11, and Phoebe, 7. Here she shares seven things she has learned from life on the transplant list.

1) Make lasting memories

Last year my parents took us all to Disneyworld in Florida which was absolutely amazing. We wanted to ensure we had the holiday of a lifetime and a chance to build some everlasting memories in case we didn’t get that chance again.

2) You may want to keep the whole truth from the ones you love

The girls have always known that their mummy is not well but I keep the frightening statistic that one in three people with cystic fibrosis die on the lung transplant list hidden from them. It wouldn’t be fair and could damage what we have if they stopped acting normally around me.

3) Life will change

The one thing I miss the most is running around with the girls. We live in the country and up until I became this ill, I enjoyed a very outdoorsy lifestyle with our horses, dogs and long country walks.

4) It’s okay to ask for help

I really miss doing these activities with my girls and have had to hand over the reins to my long suffering parents who take them out all the time. They have been a brilliant support to me, especially since my husband and I are no longer together.

5) Improvise!

I do consider myself very luck, because my daughters are content when we curl up on the sofa and have movie nights instead. We do lots of indoor activities too, like baking, and they like to have their friends over for sleepovers.

6) Be prepared

I can’t travel further than two hours from the hospital, in case I get that life-changing phone call. My parents are on standby and when the time comes no matter what time of day it is my mum is ready to look after the kids and my dad is ready to drive me to the hospital.

7) Anything could happen

I have written the girls a letter each for when I go in to have my transplant, in case the operation goes wrong. I’ve also started to write letters for them to open further down the line. Things like special messages for all of their birthdays, their wedding day and even for when a boy might break their heart for the first time. I want to give them these letters so that when they read them they can feel close to me and know that I have planned ahead for them, but most importantly to let them feel my love when they will need it most.

Extracts from a Short and Merry Life - Part Three: Adherence and Commitment

Ahead of tomorrow's book signing at Waterstones in Wimbledon the final extract from 'How Have I Cheated Death? A Short and Merry Life with Cystic Fibrosis' by Tim Wotton is on drug adherence and commitment:

Why would I want to cut corners and miss my medication? Even when I take all my medication, it just about maintains my health – it never cures. I would feel a lot worse if I missed any of my treatment regime, so what’s in it for me to risk that? After all, I’m only as healthy as my last treatment. It is important to control the parts of my illness that can be controlled. Manage the manageable. In rowing terms, I control what’s going on inside my own boat rather than fixate on external factors.

I have calculated that for every 24 hours in a day, at least two hours are spent doing something medical. A positive way to view this is that leaves me with 22 hours to do what I want to do each day so I take pleasure in the hours I have and not the hours I lose.

22 hours for Tim Wotton and 2 hours for CF.

My treatments are something I do to get out the door and get on with my busy life – they are my enablers – they have become a second nature activity like brushing my teeth. This is engrained in my subconscious by constant repetition so that eventually my body begins to remind me what to take and when. This can only happen by taking ownership of the condition rather than relying on others to be my conscience. For me, it’s been a case of building habits and over the years I have become pretty competitive with myself to adhere to the regimen. Conversely I am prone to getting annoyed with myself when I forget any part of my treatment.

If my routine is altered which is likely when I’m travelling, on holiday or in a work conference, it does affect my medical management and I have to focus even harder not to miss any facets of my regime.

In dealing with CF I have tended to match fire with fire. I’m bullish about getting my own way from hospital visits and I’m probably a pain to medical staff at times. I read my own body signals and thus don’t always wait for the doctor to tell me about changing my antibiotics when I already know what drug to take and when to take them. I try to keep on top of the condition and look for new ways to ‘boss’ my illness with changes of drug, alternative therapy or new ways of positive thinking.

I won’t back down.

I one hundred per cent respect my illness, know my many limitations and look to avoid the ‘CF banana skin’ of trying to dismiss it and not take it seriously enough.

A lot of willpower is required to win this ongoing battle. When you get to a certain age you tend to balk at doing things that you just don’t want to do and believe me doing my treatment is the last thing in the world I want to do. I have to knuckle down every day of my life and continually do these unpleasant acts of medication. I only get out of my body what I am prepared to put into it.

I do at times have to bite my tongue when people I encounter complain about their short-term health issue but do nothing about it. Or those that make a big fuss at the dinner table about taking just one tablet. I’ve also witnessed guys who milk their condition or injury for all it’s worth and feed off of the novelty factor. These are often the same people who don’t take any medication to get it fixed but prolong their own agony and that of those around them. I prefer to say nothing and let my actions do the talking. But I’ve had nearly 40 years to get used to my afflictions – I’ve never known anything different.

I have to respect this illness 365 days a year and especially at times when I would rather kick-back and have some time off: Christmas day, birthdays, my wedding day and honeymoon, holidays, travel, before and after work – I don’t get a day off with this condition. The symptoms of CF and diabetes don’t take a day off and neither can I. I can take a holiday but CF doesn’t take a holiday from me. I’ve calculated that if I had just two weeks off from taking all my various medications, I would be seriously ill in hospital.

If I fail to prepare for daily eventualities, I am preparing to be caught out and potentially be affected. Following a ‘just in case’ mantra, I always plan for the next day, work, social commitments and the weather. My work bag is always stocked with my daily pills, insulin and dextrose energy sweets. I bet I’m one of the few men who would go out on a stag do armed with an umbrella so that I don’t get wet and damp! As soon as I’ve played sport or if I get caught in the rain, I’ll take a shower to avoid catching a chill. It’s being spectacularly practical rather than spontaneous. Spontaneity is something that happens to other people who live in a parallel universe to me.

I get angry on a daily basis about my drug regime, but I have learned to channel that anger and frustration. I focus my thoughts on what activity – tube to work, playing sport, game with my son, meal with my wife, night out with friends – I will do once that piece of medication has been completed, rather than on the actual treatment itself. I very rarely vent my anger and frustration with those around me and I’m learning to be more open as I write this diary.

I re-join my body back on the bench. I’m now calm and at peace as I sit in the delightfully calm twilight moment that only really pervades on a still summer’s evening. I think of friends who can just exist without having to put themselves through this form of exercise torture and I envy them. My God, I envy them. Sometimes I feel that ignorance would be bliss.

However tough it is for me to bear, exercise is my version of treading water in the ocean. Once I stop, I’ll drown and that will be it. I’ve literally got no other choice but to keep on going with it. By forcing myself to breathe hard while exercising, I in turn breathe life into my lungs. While there’s still breath left in me, I will continue to run for my very life.

Everyday I’m shaken by my disease but I try not to be too stirred and respond by shaking it back. After all, I’m still here. I’m still running. I won’t back down.

Tim will be signing copies of his book at Waterstones in Wimbledon from 6:30-8:00pm this Saturday. You can purchase 'How Have I Cheated Death? A Short and Merry Life with Cystic Fibrosis' from Austin Macauley and Amazon, as well as WH Smith, Waterstones and Foyles.