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.