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.