A month in the job - Rick’s thoughts on being a CEO

This week Findacure’s Libbie Read decided to play the intrepid reporter, and ask our new CEO, Rick Thompson some challenging questions about his first month in charge.

Rick, for those who don’t already know you, tell us about how you ended up at Findacure.

Well I started with Findacure two years ago as the charity’s first Scientific Officer. At the time I had recently finished my PhD in Evolutionary Biology here in Cambridge, when I studied the evolution of moles. Now, moles may sound like an odd thing to study, and in many ways you would be right; however they are really very interesting animals with a unique way of digging. I spent my PhD staring at skeletons and sequencing DNA, all with the aim of working out if this way of digging evolved just once, or on many different occasions.

Fascinating right?

Anyway, after finishing my PhD I wanted to find a job that would allow me to keep working in science, but in a field that would have impact on people’s lives. Working to better understand rare diseases perfectly fitted the bill. Since 2015 I have been working to develop Findacure’s drug repurposing programme, researching the cost of different rare diseases to the NHS, and to helping patient groups meet clinicians, researchers, and people from industry who can help them develop new treatments for their rare diseases. I’ve loved my time here so far, and I’m very excited to take over the charity and continue to develop its work.

So, Dr Rick, you’ve been CEO of Findacure for one month now. How are you finding it?

Challenging and exciting yet oddly familiar…

Taking over a small charity like Findacure is a big challenge, as I’m sure a number of patient group CEOs will know. I’ve had to spend time trying to understand our finances and to develop a plan to bring in the funds we need to deliver all of our projects next year. At the same time I’ve been working on the submissions to our Rare Repurposing Open Call, meeting new people, and helping deliver our current projects. There is a lot to do, but it is really exciting to think about how all that work will translate into help for rare disease patients.

Luckily for me I have fantastic support here. Flóra left the charity in fine health, and handed over her responsibilities with typical efficiency and skill. Furthermore I have a very supportive group of trustees, and Libbie and Mary Rose have been working very hard to deliver our best work for the rare disease community. So while things are new, everything has a familiar feel, and I can rely on Mary Rose and Libbie to keep me grounded and focused on the task in hand!

What are you most excited about in the coming months and years at Findacure?

I’m excited about our potential. We have grown hugely as a charity in the last four years, and developed a great programme of empowerment projects to help rare disease patients – but we have not reached the limit. Our online portal has the potential to form a hub for the rare disease community, connecting all of our different training programmes together. Our social impact bond project has helped a number of groups advance repurposing projects already, even though it is still in the proof of concept phase – it can achieve so much more with NHS support. Our networking events and conferences are helping to build a community of people with an interest and focus on rare diseases, and are triggering new relationships and collaborations. With more time, effort, and ideas, we can continue to increase our impact on the rare disease world. Watch this space to see how we develop in the future!

What do you think will be your biggest challenge moving forward?

We have two simple challenges moving forward, and we are already tackling them in style: funding and messaging.

All small charities need funding to survive. At Findacure we are exceptionally fortunate to have the support of lots of organisations who help to fund our important work, but securing grants is always hard. We’re in the midst of planning our fundraising strategy to deliver our projects in 2018 – we know it will be a big challenge, but we are all sure we can deliver. Whatever our plans for the future I’d like to thank all of our supporters, big and small, for helping us to provide the support and training that benefits rare disease patients.

In order to ensure we can continue to grow, it is crucial that we can deliver our message clearly and consistently to as many people as possible. Over the coming months we and going to try and deliver more patient stories, to reach more people, and to do this in more attention grabbing ways. All of this will aim to bring more people into the Findacure family, and let more groups benefit from our empowerment programmes going forward.

Any final comments?

We have a fantastic rare disease community in the UK, and Findacure are going to work to keep building it in the future. We want to ensure we are here to provide the help and resources that patients need, and we will do that by being as open and collaborative as possible. If you have thoughts or ideas to help us do our work better please do get in touch.

 

Setting up a patient group

Patient groups play a vital role in the rare diseases community – providing support, guidance and information to patients and their family members. But many groups don’t know where to start when it comes to establishing themselves and getting off the ground. With this in mind, on Friday 9th June we hosted our second full day workshop on the “A-Z to setting up a patient group”. We were delighted to collaborate on this workshop with Genetic Alliance UK in providing a back to basics session for our delegates.

The workshop was opened by Mary Rose, Findacure’s Events Officer, and Mariana Campos, Public Engagement Manager for Genetic Alliance UK. Mary Rose used the opportunity to give an overview of Findacure’s patient empowerment projects, stressing the importance of patient groups, whilst Mariana introduced Genetic Alliance UK and their “Building Rare Communities” programme. [Click here to view Mary Rose’s slides][Click here to view Mariana’s slides]

The first presentation of the day was given by Brian Seaton from Small Charity Support and Small Charity Coalition, who gave a comprehensive introduction to patient group and charity operating policies. Brian stressed the importance of an overarching governing document and having a business plan. Brian’s take home message was not to think too far ahead, as your plans will always change – a three year business plan can be more useful than a five year plan. [Click here to view his slides][Click here to listen to his presentation]

Andrew O’Brien from the Charity Finance Group was next to speak. Andrew presented on the importance of creating and managing budgets. Andrew began by over viewing what a budget is, before explaining how to make one, why it’s so crucial, and who should be involved in the planning process. Andrew gave lots of useful of advice, which came in handy for our afternoon activity. [Click here to view his slides][Click here to listen to his presentation]

Following a short break, Diana Perry from the Ectodermal Dysplasia Society provided a case study of how she set up her patient group and the growth they’ve undergone in the last 20 years. Diana outlined the difficulties they had starting out, how they recruited members for their trustee board and medical advisory board, and their employee expansion. Having grown the ED Society from one member of staff to four, Diana’s talk was particularly inspiring for patient groups in the room who were just starting out. [Click here to view her slides][Click here to listen to her presentation].

Our final presentation was delivered by Uday Thakkar, a DSC Associate. Uday gave an overview of the different models an organisation can take. Uday highlighted the importance of knowing what you want to achieve, and choosing a structure which will best help you in your aims. Uday presented the pros and cons of different models, including charities, trusts and voluntary associations. [Click here to view his slides][Click here to listen to his presentation].

Following a delicious lunch and our panel session, Genetic Alliance UK got the group started on the afternoon activity. This involved our attendees planning a family/information day for their beneficiaries and went through important tasks, such as setting a budget – and knowing what you need – defining a timeline to help prepare for the event, and how to raise funds. Useful advice was shared by all and everyone seemed to really benefit from this practical exercise.

We would like to say a big thank you to all of our excellent speakers for sharing their informative presentations, NCVO for hosting, and all of our delegates for attending.

We would like to say thank you to our funders Novartis and the John Ellerman Foundation for providing financial support to cover the costs of this event. This event was solely organised by Findacure and Genetic Alliance UK and our funders did not determine the content.

Meet the team: Stuart Penney to do the Megavalanche

This weeks blog introduces you to perhaps our most dare-devilish supporter yet, Stuart Penney. Stuart will be taking part in the Megavalanche downhill mountain race in the Alps on Sunday 8th July. It is the longest and one of the most challenging mountain biking races in the world, and we wish him the best for his ride!

Can you tell us a bit about yourself?

A local Cambridge boy and the son of a biologist, I work in Executive Search the life science field locally and globally. I came to know the team at Findacure through my life science networks and have been a keen supporter for the past few years.

I am an avid (yet aging) adrenaline junky with a penchant for mountain biking. Over the years I have found my body to be less forgiving on me for my adventures, so much so it decided to give up on me in the form of a herniated lumbar disc 8 weeks ago.

Megavalanche sounds like a really interesting event. Can you tell us a bit more about it?

Megavalanche is an event revered by mountain bikers as one of the toughest downhill races on the planet. I will be racing with 2,000 other competitors down the Pic Blanc glacier in Alpe D’Huez (French Alps) at 10,930 ft above sea level down 28km of alpine terrain.

It is an extremely hard event to describe, this will be my second time taking part. The intensity of the race, speed, snow and rocks makes competing in the Megavalanche a blur of adrenaline and fear. Only now do I know what I am letting myself in for second time around.

Why did you choose to fundraise for Findacure?

I was made aware of Findacure originally by a moving speech made by Nick Sireau, three years at the On Helix Event arranged by Harriet Fear at One Nucleus. It became very apparent that through his experience with his own family, other families were in desperate need for hope towards treatment for rare diseases.

Since then I have seen Findacure grow as a value driven organisation, raising real awareness with industry and making a difference to patients, giving them the chance to play an active role in clinical research towards repurposing drugs for rare disease.

Have you taken part in any similar events before?

Sort of… I have actually competed in the Megavalanche before (back in 2013) but I didn’t make it to the finish line!  I had a catastrophic mechanical failure which resulted in a two hour hike down to the finish line. The disappointment and frustration of that performance means I have a score to settle with the mountain.

What are your other hobbies?

I enjoy most sports – mountain biking and weight lifting being my two main activities.

Hospital Beds and Board Games

This week’s blog features another of our 2016 Student Voice Essay Competition submissions. Kiana Bowden, a medical student at St Andrews University, explores how the impact of a rare disease is much more widespread than its direct symptoms, drawing metaphors between them and board games. Kiana wrote it in loving memory of her friend Katie, with many thanks to her family, and in support of the Royal Manchester Children’s Hospital, CLIC Sargent and similar charitable organisations working to help young people cope with cancers and rare diseases. We are grateful to Kiana for sharing her story.

Rare, as defined by the Oxford English Dictionary can be “(of an event, situation, or condition) not occurring very often” [1], “(of a thing) not found in large numbers and so of interest or value” [2]. It scores you four points in a game of Scrabble™.

A rare disease is a life threatening or chronically debilitating disease, which, according to research, affects 1 in 17 people [3]. To put a figure on that, 3.5 million people in the UK will suffer from a rare disease at some point during their lifetimes. This, in fact, may sound like a large number, like these diseases are not rare at all. But the statistics are of little importance when you, or someone close to you, is that one among the seventeen.

A friend of mine had been experiencing pains in her knee. She was active, involved in sports, generally healthy. Doctors repeatedly put it down to a strain. After pursuing different tests and further consultations, the possibility of cancer emerged. With the discovery of a tumour, her whole world changed. We’d never even heard of osteosarcoma. The very word was so unfamiliar. In that instance, the term ‘rare’ certainly didn’t bring ‘interest’ or ‘value’ to mind, it only added to the fear of the unknown. If the idea of cancer had shaken us, the diagnosis of such an uncommon form of it was a high magnitude earthquake. Its tremors would resonate far beyond the symptoms which lead to it. We were worried, afraid and holding on to hope. This rare disease had made a huge impact, before any treatment had even begun.

Dealing with the diagnosis of a rare disease can be difficult for anyone. Difficult, as a word, may not even do that justice. 75% of rare diseases affect children and in such cases the difficulty becomes a parent’s tragic reality. Plans change. As do priorities. School and hobbies give way to operations and treatments. Schedules are at the mercy of available appointment times and hospital visiting hours. There’s little time to think and you’re not sure how much time you actually have. With rare diseases there are so many uncertainties, so little to go on. For the children especially, their experiences of such drastic changes from the norm are both exhausting and terrifying. The ‘norm’ being a relatively healthy, happy childhood, often oblivious to healthcare settings beyond pretending to be doctors and nurses at play time, or maybe the occasional trips to the dentist where shiny stickers are expected as standard. Family occasions and holidays could be celebrated completely carefree, without those questions of time or the severity of the child’s health condition.

My friend decided to raise money and buy presents for children who would be spending Christmas in the hospital where she herself had been receiving treatment. Of course she had always been a kind and caring person, but her experiences as a patient brought about a desire to help others in a similar situation to her. I’ll always admire her selflessness in this, and how she endeavoured to have a positive impact on the lives of others. She herself had been receiving chemotherapy to shrink the tumour, yet with little success. It felt like being catapulted back to square one in a game of snakes and ladders. Other operations and treatments were to be considered. As well as the Christmas campaign, she fundraised for charities which supported cancer care for children and young people. The need for these organisations cannot be stressed enough. The physical impairments imposed on children by the adverse effects and treatment of rare diseases can limit social opportunities and lead to isolation. Inevitably, the difficulty of keeping in touch with friends as an inpatient places strains on peer relationships. ‘”People… don’t treat you the same. Like sometimes they wrap you in cotton wool.” – Sally, age 11, 9 years post-treatment; Medulloblastoma’ [4]. Interactions within the family change after the upheaval caused by a diagnosis of a rare disease. It affects parents and siblings both emotionally and socially, not to mention the potential financial implications (such as leaving work to care for a family member). According to a study conducted on the impact of cancer on children, ‘…fear of getting hurt and concerns about mortality were often reported… other emotional issues such as lack of confidence and low self-esteem were also prevalent, hair loss in particular having a significant impact’ [5]. In a report focussing on the needs of young people with cancers, coping with the side effects of treatment was cited by half of interviewees as the most stressful part of cancer [6]. So not only the disease, connotations that come with it and its immediate symptoms have an impact on people’s mentalities, but also the treatment involved.

Receiving treatment and coping with the effects of a disease can also be life changing where children’s education and development are concerned. Learning and socialising at school is a huge aspect of their lives. School days also offer structure and stability, whilst ensuring children have the capacity to develop personally. Missing out on these activities is a concern for the child but also presents issues in the long term when it comes to recovery and returning to education. Delayed progression through education is in itself an aftershock of the impact a rare disease can have. Even after recovery (or a relatively normal lifestyle at least) is achieved, the impact the rare disease has had on a young individual resonates into the future. Physically, they may never be the same, nor entirely healthy again. And certainly where cancer is involved, there is always the possibility of recurrence. ‘”Well, my family is scared that my cancer might come back… My mum doesn’t like it when I play action games and throw myself about…” – Ben, age 9, 6 years post treatment; Wilms Tumour’ [7]. So many uncertainties remain. What are the genetic implications, for that child and their potential future children? Do other family members carry the same genes as the ones involved in the disease?  Is it possible that the cancer has spread to other areas of the body, yet to become malignant or be discovered? These worries would come naturally to anyone, but particularly so with the inquisitive nature of children and young people. Their questions, for the most part where rare diseases are concerned, remain unanswered due to the limited knowledge we have access to. In the UK, 82% of children with cancer survive [8], but recovery from the various impacts of the disease can take much longer than simply after being given the all clear. There’s no ‘Get out of Jail, Free’ card when it comes to moving on or returning to a version of normality. Furthermore, this is assuming that an all clear can be given in the first place.

My friend tragically lost her fight with osteosarcoma three years ago. We were both 16 years old at the time. Of course cancers and rare diseases affect people of all ages, but it was difficult to fathom how someone so young, who had so much potential to give to the world, could be taken away from us. The impact it had on all who knew her was irreparable. There wasn’t a specific way to prepare for it. In fact, there is no specific way in which one can prepare or strategise for living with a rare condition. Statistics are of little value when it comes down to dealing with the impact any disease can have, even more so when they highlight rarity. The unfamiliar labels and terminology can be passed around almost as if they were on a Scrabble™ board. If the tiles were a population of people, each letter T would be suffering from a rare disease. It almost seems like a game of luck, or avoiding the first strike whilst playing Battleship™. But we are not alone. So much support is available for people who have rare diseases, both young and old, from family, friends, charities and those working in healthcare. Scientists are gradually making progress across the chess board, each move bridging over gaps in our knowledge of these rare diseases. Not only are we learning more of the science behind the symptoms, but raising awareness on how they affect patients’ lives. The fight is a team effort. We continue with the hope that one day, we’re going to win.

[1] OED, adj.,1 (https://en.oxforddictionaries.com/definition/rare) Accessed November 2016

[2] OED, adj., 1.1 (https://en.oxforddictionaries.com/definition/rare) Accessed November 2016

[3] Rare Disease UK. About rare diseases. 2015 (http://www.raredisease.org.uk/what-is-a-rare-disease/) Accessed November 2016

[4] Alisha Newman, Dr Zoe Lee et al., March 2010, The Impact of Cancer on a Child’s World, Section 8.4a

[5] Alisha Newman, Dr Zoe Lee et al., March 2010, The Impact of Cancer on a Child’s World, Section 2.6a

[6] Emma Insley, Lori Streich, November 2015, Stand By Me

[7] Alisha Newman, Dr Zoe Lee et al., March 2010, The Impact of Cancer on a Child’s World, Section 8.1b

[8] Cancer Research UK, http://www.cancerresearchuk.org/health-professional/cancer-statistics/childrens-cancers, Accessed November 2016

Meet David: a person living with Occipital Horn Syndrome

This week’s blog by David Rose introduces what it’s like to live with a rare condition, including a hope for better treatments for this multi-symptomatic disorder.

My name is David Rose. I’m 28 years old, and I have ‘Occipital Horn Syndrome (OHS)’. Formerly considered a variant of Ehlers-Danlos syndrome, is an X-linked recessive connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene. Occipital Horn Syndrome affects more males than females, since the disorder is X-Linked recessive.

Due to having OHS, I’ve had over seventy operations and procedures, thus far, with others planned in the future.

My heart, kidney, bladder and bowel are all affected by having OHS, along with my entire muscular-skeletal system.

Road to diagnosis:

As a child, I was loosely diagnosed with ‘Ehlers-Danlos Syndrome’. At six weeks, I had my first operation. In the first months of my life, I started to be seen at Great Ormond Street Hospital. I didn’t start walking until I was nearly two, and the doctors noticed problems with my kidneys and heart.

Around five years ago, I felt my body really beginning to change for the worse.

Two years ago, I began genetics testing at Addenbrookes hospital in Cambridge – it was an interesting process of testing various gene changes. I was formally diagnosed with Occipital Horn Syndrome in July 2016. It was a relief to finally have an answer after all these years of having been told I have lots of complicated problems, but with never a firm medical diagnosis.

What’s it like to live with:

It has varied; some years have been better than others. In my younger years, didn’t notice my muscular skeletal problems so much, these symptoms really started to manifest themselves when I was at University.

OHS has taken my life away in some respects. Currently, I’m too ill to work due to overwhelming fatigue and pain. Socialising has decreased due to the condition deteriorating over the years. I normally attend hospital once a week for treatment or other appointments.

Hope for treatments:

As it stands, the condition is not curable. I have regular physiotherapy and hydrotherapy for my muscular skeletal system. I have regular consultations for my heart and kidney as well. I’m hoping that in the future there’ll be a form of medication that might be able to give me more relief for my separate issues that form Occipital Horn Syndrome.

I’ve lived all my life being ill in cycles, so I’m used to it by now. I’d like to think that in the future I might be able to get on more with my life again, but we’ll have to wait and see. I’m thankful for all the help from all the medical teams I’ve been seen by from Great Ormond Street Hospital, Addenbrookes Hospital, University College Hospital London and the Royal National Orthopaedic Hospital, Stanmore.