Tuesday, 12 August 2014

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.

Friday, 1 August 2014

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.

Thursday, 31 July 2014

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.

Thursday, 17 July 2014

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.

Wednesday, 9 July 2014

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.

Monday, 7 July 2014

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.