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.

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
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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

Charlotte's Story - Facing Up to the Challenge of Adult Disability Benefit

 Personal Independence Payment (PIP) is the new adult disability benefit, replacing Disability Living Allowance (DLA) for people aged 16 to 64 with disabilities or long-term health conditions.

Change can be a good thing but there’s always a risk of it going wrong – sometimes very wrong.

It’s a case of the latter that has motivated our Policy Manager Nick Medhurst  to write this blog post.

I’ll lay out my stall: I think PIP will work for some people with cystic fibrosis. It’s made up of two parts – one part provides financial support to help you with daily activities, and the other provides financial support with ‘mobility’ issues. So, in a sense, that is two potential support packages for ‘doing stuff’ and ‘getting around’.

I believe that if the letter of the law is applied, the majority of people with cystic fibrosis will get the support they deserve to help them with their daily activities.

I also believe that despite the myriad challenges that people with cystic fibrosis face in getting around – from breathlessness, fatigue, coughing fits and pain, to fear of infection and anxiety – that many people who desperately need that support won’t have any chance to get the support they deserve, because of another pathetic piece of miserly, ill-judged policy making.

So, theoretically, if you don’t need support to get around but some financial help to overcome daily barriers to leading a normal life will go a long way, then PIP will work for you.

However, theory is only theory. Many months ago, I was contacted by a mother in distress. Her daughter, Charlotte, was unwell and struggling. She was turning 16 and was told she must apply for PIP, as she was no longer eligible for children’s DLA or adult DLA given the change to PIP.

This dedicated, caring, loving mother was caught up in a bureaucratic nightmare of bad information, blind-alleys and complex processes. She and her daughter embarked on the PIP application without any support or quality advice and information. The government’s top-down, blunderbuss approach and insistence on farming out stages of the process to private companies meant that Charlotte and her mother had a million and one different points of contact but nobody could give them straight answers and they continued to forge ahead in the dark, as part of an experimental system.

Charlotte’s mother rang me. I did what I could to explain the theory of how the system should work and to help her make sense of the jumble of loose ends that was, laughably, referred to as an application ‘pathway’. We discussed options, plans-of-action, tips and strategies.

But I couldn’t help Charlotte how I would have wanted to. In the end, the system failed her. And then kicked her whilst she was down.

Charlotte, unwell and upset, was made to beg for the meagre support she had been denied – for both parts of the benefit – in front of a judge, at a tribunal.

She was denied again.

The complexities and bureaucracy of the system they entered is enough to numb the mind and becalm the drive and ambition of even the most resourceful. To subject Charlotte and her mother to such miserable and intimidating treatment, at such a difficult time, is heartless enough to be labelled cruel. What on earth did the endless stream of nameless officials think they were achieving?

It is my view that the individuals involved should feel ashamed as professionals and annoyed as taxpayers. What an utter waste of everyone’s time, money and energies.

Not everyone with cystic fibrosis will need welfare support but the reality is that most do and for the vast majority it genuinely is a lifeline, in the sense that it breaks down some of those financial and logistical barriers and facilitates people going out and living their lives and achieving their ambitions.

The Cystic Fibrosis Trust is utterly committed to ensuring that people with cystic fibrosis get the support they deserve on time, at the right time, first time. That should appeal to everyone, from the government, to the families and individuals that we exist for.

We are working directly with an equally committed group of specialist cystic fibrosis social workers from across the UK to help shape and design our work and ensure that our advice and action is as impactful and effective as possible.

Our Support Services team provide a helpline to share advice and information on a wide-range of welfare topics and handle many other issues and questions besides.

Our Policy and Public Affairs teams work to understand these challenges thoroughly and ensure that those who can make a difference, like politicians, know what a positive change is.

Our Media team will continue to speak out on behalf of everyone with cystic fibrosis to help everyone understand this complex and cruel condition.

Charlotte is heading to university this September. She will be realising a life-long ambition and embracing one of life’s best opportunities – to learn and excel and better herself.

What an abject shame that the government has missed the opportunity to support Charlotte to defy those challenges and meet the obstacles that cystic fibrosis throws her way head on. She’ll do it on her own, with the support of her loving family.

I wouldn’t call that the Big Society. Far from it. That’s our community and we’ll fight to the last.

 

If you want more information about cystic fibrosis and Personal Independence Payment (PIP), please read our guidance.

Have you applied for PIP? Tell us about your experience by emailing campaigns@cysticfibrosis.org.uk

 

 

'One Born Every Minute' - CF and Pregnancy

Channel 4's 'One Born Every Minute' tonight (9pm) features Rhiannon Dunn, a mother with CF having her third child. As people with CF live longer, having a family becomes more of a possibility, but it doesn't take away from the challenges that CF brings on top of parenting a child, let alone three!

Rhiannon tells us in her own words how she manages the balance of CF and parenthood.

The hours, days and weeks simply bleed into one another since becoming a mother to three beautiful, strong-willed and noisy children, but that's what I always dreamed of so I couldn't possibly complain… well maybe once in a while, when I realise I'm drowning but not from my cystic fibrosis!

I was born in 1988 and was diagnosed with cystic fibrosis (double DF508) through a sweat test at eight months’ old due to “failure to thrive”. It was good to get the diagnosis as my mum couldn't take being called an over-protective mother by doctors and now I have learned myself that a mother’s intuition is real.

As a child I had both hospital admission and home IV therapy and I always had access to good nutrition even though I struggled gaining weight. Then I hit my teens, at 15 I met my husband and we have been childhood sweethearts ever since. We have been together 11 years this year and I'm lucky to have him as he is supportive and there right by my side through CF and the journey that is motherhood.

Being a mother to three young children (and don't forget the three cats!) and having cystic fibrosis along with diabetes is tough; I won't lie or sugar coat anything. The overwhelming loving motherly instinct I always feel is always tainted by guilt of deciding to bring a child into a world where I know I may not be here to help see and nuture them right through, due to the life expectancy of a CF patient, but then I have never been one to let CF get in the way.

I have always been bold, confident and wanting to prove people wrong, so we took the marriage and parenthood route & never looked back.

Our daily routines are more time consuming, demanding and nonstop, more than ever on top of my medical needs, and it takes good, sound management to juggle everything so it's home IVs through a portacath. Online groceries delivered to our front door and plenty of take away dinners have become the norm as something has to give, right?

Our home? How do I keep that clean? I don't: I had to admit defeat and bring in extra help and hire a cleaner otherwise I would be 10 feet under! I'm on the go 16 hours a day, juggling CF and three young children, the novelty of school runs has well and truly worn off, I can tell you that for a fact.

Believe when I say babies are easy but school-age children and driving across the city for extra-curricular activities, play dates and not to mention their own appointments when you have a child with their own disability, are things I didn't plan for. But I'm thankful all the same, I have the opportunity and privilege to have this life; I'm a very luck lady indeed.

We decided to agree to be filmed for Channel 4’s ‘One Born Every Minute’ series seven to raise awareness of CF, empower and offer reassurance to women who have the same genetic illness as me and to get that out to the public, so to do that, what better way to get people’s attention than to get naked on TV!

So I hope you all enjoy watching me losing my dignity on national TV because I know we had a fantastic experience recording it and would do it all over again.

Ps not really - my husband’s booked in for a vasectomy for two weeks’ time, ha! Three babies is more than enough!

Learn more about issues around cystic fibrosis and pregnancy, including fertility.

Welcome to Hack It Up!

Yesterday, we launched Hack It Up!, our new online colloboration and innovation platform designed to bring the CF community together so we can all work on the challenges cystic fibrosis brings.

Today our Community Manager, Emma Lake, who will be acting as the facilitator on Hack It Up! introduces herself and the platform

Hi, I’m Emma, the facilitator at Hack It Up! I have cystic fibrosis and I believe passionately that everyone with the condition and those who help and support us, both at home and in hospital, should help shape the future, through the discussions and decisions that affect our lives.

Our insight and experience is uniquely valuable, we are the ones who are truly experts in living with cystic fibrosis and we need to drive change, delivering impact based on our needs and in our interests.
That’s why I’m thrilled to be a part of Hack it Up, an innovative platform to make our voices heard on the issues that matter.

I am really excited about the first two challenges we have to discuss, and can’t wait to start exploring ideas and sharing our collective expertise.

In the first challenge, we want to find out the tricks and techniques people have developed to manage their CF while still living the life they want to lead.

Together with people with CF, healthcare professionals and industry, the Cystic FibrosisTrust is developing a project called SmartCareCF, to find better, smarter ways of managing care. Before we look ahead though, we need to look at what’s happening right now. What works for you? How do you use technology to keep one step ahead?-

At the same time, we are exploring how being active can help keep lungs healthy for longer. In our second challenge we want to know what activity means to you. What do you do to try and stay healthy? How does it make you feel?

So, get stuck in! Join us in Hack it Up and give us your views and share your experience– there’s a whole community waiting to listen, to learn and to connect.

Once you’ve joined, please invite other people you know who understand life with cystic fibrosis, such as parents, partners, friends, employers and colleagues. I’ve already invited my mum, my husband and my best friend!


Together, we can change the world of cystic fibrosis and shape a better tomorrow.  We just have to get stuck in!

This is an edited version of a blog post from Hack It Up! Join the conversation at www.hackitup.org

The Drop in Donors: What the organ donation statistics tell us

Yesterday NHSBT published figures revealing the first overall drop in organ donation in the UK for more than a decade. Public Affairs Manager Darren O’ Keefe talks about what these figures tell us about soft opt-out, public attitudes and the need to talk to your family and friends about your wishes.

New statistics released by NHS Blood and Transplant yesterday for 2014/15 show a 5% decrease on organ donation across the UK since 2013/14. This is the first decrease in 11 years, showing there is no room for complacency when it comes to ensuring as many people as possible receive this amazing gift of life.

Interestingly, the only nation that has not shown a decrease in donations is Wales, where the move to soft opt-out for organ donation in December this year has been preceded by years of high-profile debate about organ donation. The lesson here is that we must keep people talking about organ donation and sharing their wishes to donate with their families. Especially given that figures show family consent rates are below 60% and families are much more likely to agree to donation going ahead if they know it is what their loved one wanted.

The subject of soft opt-out stimulates conversation and it’s a policy we support. We are encouraged to see Wales take the lead on it and Northern Ireland and Scotland exploring legislation on the issue. However, it is not acceptable to "wait and see" what happens in Wales; this will take years – years that the many people with cystic fibrosis and other conditions across the UK waiting for a donor just don't have. This is why we will continue to support the soft opt-out legislation in Northern Ireland and Scotland, as well as urging England to explore the issue as well.

The Cystic Fibrosis Trust is working tirelessly to ensure that people with cystic fibrosis are able to receive the lung transplant they may come to depend on. We have made a great deal of progress through the ‘Hope for More’ campaign to ensure the most is made of the donated lungs that are already available. This work risks being undermined if donation rates fall, so please sign up to the organ donation register if you haven’t already, make sure you share your decision, and encourage others to the do the same.

Organ donation features in tonight's BBC Two documentary on Great Ormond Street. Focusing on children who need double lung-transplants, tonight's epidsode those with cystic fibrosis. Watch it live on BBC Two, 9pm or catch up on BBCiPlayer

What the DLA ruling means for CF

Policy Manager Nick Medhurst takes us through Wednesday's landmark ruling on DLA and why it matters for people with cystic fibrosis.

On Wednesday the Supreme Court ruled that the government’s decision to stop Cameron Mathieson’s Disability Living Allowance (DLA) payments, as he lay in the hospital where he would eventually pass away, was unlawful,  with judges labelling it “grossly unfair”.

The government had argued that they were “paying twice” for Cameron’s care.

Cameron had cystic fibrosis, Duchenne muscular dystrophy and other long-term health issues, and passed away in 2012 at the age of five, having spent over two years in hospital.

Cameron’s family continued to fight an injustice that hit them in their darkest hours, on behalf of everyone who has and will face the same situation.

The case revolves around a government directive, which demands that an individual’s benefits are stopped after they spend over 12 consecutive weeks in hospital. This is apparently “to prevent double provision” – in other words, the government don’t believe they should have to support a family financially, if they are already picking up the medical bill in hospital.

This fundamental misunderstanding – that an individual’s or a family’s need for financial support vanishes as soon as you step on to hospital grounds – is obviously wrong, something supported by research, conducted by Contact a Family and The Children’s Trust with families who found themselves in the same circumstances:

• 99% said they provide more or the same level of care when their child is in hospital compared to when at home.
• 93% said that their costs relating to their child's disability increase when their child is in hospital.

Increased travel, accommodation and food costs are simple examples but the reality is more complex and many families will find themselves significantly harder-up in such periods.

So Wednesday’s ruling is a very important victory in the fight to recognise the true costs of living with a long-term health condition or caring for someone with one.

Cameron’s father, Craig, told the BBC that the ruling “is a fantastic legacy for Cameron.” And its ramifications could be hugely significant for us as a community.

Cameron Mathieson was very young and very unwell when he passed away but his short life and his family’s courage to take forward the fight in his honour, struck a blow for everyone living with a long-term health condition who says that life is worth more than the cost of medical care.; We, as a society, must work hard to remove barriers to leading a happy and fulfilling life.

So when we hear nameless DWP spokespeople telling us that:

"Up to now, DLA has been suspended when a child is in receipt of long-term NHS inpatient care in order to prevent double provision - the taxpayer paying twice for the same thing. This has been the case for more than 20 years"

– we can say they were wrong and  that was 20 years too long, denying the basic support that can go some way to meeting an individual’s or a family’s non-medical needs, often when it was needed most. Their careless and miserly policy-making caused unnecessary pain and hardship.

For many people with cystic fibrosis – children and adults – welfare support is a vital lifeline, enabling work, socialising, education, exercise and physically getting to clinic. Cameron Mathieson’s legacy for the CF community is a renewed strength and resolve to tell society that we can turn a little basic support into much more and we can achieve great things.

For information on benefits, contact our helpline on 0300 373 1000.

Drawing breath

The last few days have seen some dramatic breaking news for the cystic fibrosis community, with results from the gene therapy Phase 2b clinical trial being published, NHS England announcing funding for ivacaftor for eight rare mutations, and the FDA in the US licensing the combination treatment Orkambi. In this blog, Trust Chief Executive Ed Owen looks back on a momentous couple of days, and how the power of the CF community shines through.

The last 48 hours has proved a significant step forward in our fight for a life unlimited by cystic fibrosis – and one that reinforces the collective power we have as a community, both national and global.

On Friday morning the results of the gene therapy Phase 2b clinical trial were published in the Lancet Respiratory journal. While not a surprise to those who took part in our sneak preview a few weeks ago, the outcome is certainly encouraging.

More clinical trials are needed before we can say gene therapy can be a viable treatment for people with cystic fibrosis, but it successfully establishes proof of concept that demonstrates genuine promise.

Future trials are now needed and that will almost certainly require the sort of resources and expertise that only a pharmaceutical company can provide. We also have to be realistic and accept that this will take some time.

But it is good news and one that has not come this far by accident.

First and foremost, it is a tremendous tribute to Professor Eric Alton and the wider Gene Therapy Consortium team for their ground-breaking work. Yet, as they would be the first to say, this could not have happened without the participation of people with cystic fibrosis, young and old, who have volunteered to take part in this and earlier clinical trials.

And, vitally, it has only come about because of the extraordinary support of the wider cystic fibrosis community raising many millions of pounds over the last 15 years.

This is continuing and the Trust has pledged a further £500,000 to support the GTC’s Wave 2 gene therapy product which – while about five years behind the product that is the focus of this week’s news – has potentially much greater impact.

The Trust will continue to work tirelessly to ensure everyone with cystic fibrosis gets access to life-changing therapies however long it takes. As with gene therapy and other promising scientific development, that means investing funds raised in research.  But it also means lobbying and campaigning to ensure the NHS funds therapies approved by regulators.

So we were delighted with the news on Thursday that NHS England has agreed to extend access to Kalydeco (ivacaftor) to about 40 people who have non-G551D gating mutations of cystic fibrosis.

It has taken far too long, and demonstrates the inadequate system in place to ensure such transformational drugs are appraised. What’s more, a handful of people in Wales are still waiting – and we will continue to fight for them until the right decision is made.

But the voice of people with cystic fibrosis supported by clinical teams and backed by clear evidence of Kalydeco’s transformational impact rightly won the day.

There are many more issues like this to come over the next years and a further big potential campaigning issue on the horizon is Orkambi – the so-called combination therapy eligible for those with two copies of the F508delta gene, the most common mutation of cystic fibrosis.

Orkambi has yet to be approved by EU regulators but it was good to hear this week that the US regulators, the FDA, have given the green light for its use in America.

Its effect is less dramatic than that seen with Kalydeco on those with gating mutations. But the evidence from Phase 3 trials shows that it significantly reduces hospitalisations for those who take the drug and stabilises lung function.

We are expecting a decision from European regulators by the end of this year and, if approved, the key issue will be whether it is reimbursed by the NHS. It is by no means certain that it will, and we will be pushing Vertex and the NHS in the four parts of the UK to do the right thing to enable Orkambi to get to those who need it as soon as possible at an affordable price.

This week has shown that when we come together as one we can change the world for many with cystic fibrosis. The Power of Us will continue to be our key weapon to secure further changes vital to our mission to transform the lives of all.