Triathalong: Libbie’s lengthy fundraising challenge

Last weekend saw our Projects Officer, Libbie Read, go to rather extreme lengths for the Findacure cause. After cycling from Cambridge to London and swimming 3km in the Olympic pool on Saturday, she woke up the next morning to complete the Royal Parks Half Marathon. Even the thought of that is exhausting! She was joined at the Royal Parks by four more super Findacure runners who have collectively raised almost £3,000! Check out Libbie’s vlog to find out how her triathlon challenge went.

 

It’s not too late to sponsor Libbie. All you have to do is visit her fundraising page and leave a donation: uk.virginmoneygiving.com/LibbieRead. Thank you for your support!

We would also like to say congratulations and thank you to Connie De Martino, Amalia Thomas, Stephanie Riber, Magnus Haughey and Kate Thorogood for their fantastic fundraising work. After Libbie’s 1:36 finish, Amalia was next to cross the line in 2:11, shortly followed by Steph in 2:22. Connie battled through illness to finish in 2:46, and Magnus was our final runner with a chip time of 2:42. Kate unfortunately couldn’t make it the start line, but we are still really grateful for her fundraising support. We really appreciate the lengths everyone went to in their training and fundraising and are grateful to everyone who supported them with sponsorship. Woop Team Findacure!

Essay competition launch: What are the team’s top picks?

On Monday this week we were delighted to launch the fourth round of our Student Voice essay competition. While the coveted prizes are back again – including publication in the Orphanet Journal of Rare Diseases, £200 cash and complimentary tickets to our Rare Disease Day conference – this year the competition is open to students from across the globe for the first time.

We are really excited to see what this international expansion generates. To celebrate the launch, each member of the Findacure team has chosen a poignant quote from a previously submitted essay and explained what it means to them. If you would like to find out more about the current competition – including this year’s three questions and eligibility criteria – then go to our Student Voice 2017 page.

Rick’s chosen quote

I remember the day my father called me to give me the terrible news. I could not believe that it was my own mother affected by a disease with such a frightening name. Remembering the spelling so I could Google it was hard enough. I was only at the end of my first year of medical school and thought it was normal that I had never heard of it. I soon realised that it was too rare to be covered in lectures.”

Opening passage from the 2015 winner, Roberta Garau

My first experience of Findacure’s essay competition was when I ran it in 2015. The opening passage of Roberta’s winning essay will always stick with me. It is deeply personal, reflecting everyone’s vulnerability: no matter your age or position in life, your world can be changed by a sudden rare diagnosis. The passage also tells us about her response to the situation as both a daughter, and a trainee medic. The rarity of the diagnosis meant is wasn’t covered in first year, leaving her turning to the dreaded Dr Google. The complexity of the condition’s name, leiomyosarcoma, was a barrier to understanding, even to a medical student. As she learnt more about the condition, Roberta realised that it was too rare to have a hope to be covered in her lectures, highlighting a simple point: medical training focusses on the common, and leaves rarity to dealt with by the individual clinician.

I think this passage perfectly highlights what I was hoping to achieve by engaging students with the essay competition. It humanises doctors, helping us see their uncertainty, and the personal stories that drive them in medicine. It also truly captures a student’s view of medicine and the challenges they face in dealing with rare conditions, whether there is a personal connection or not. Finally her writing helps to bridge the divide that can sometimes for between patients with a rare condition and their doctor. It shows us why this young doctor is driven to succeed, and that her personal experiences can truly allow her to understand the rare patient journey. This is why the student voice is so important to hear.

Mary Rose’s chosen quote

The isolation and estrangement was something Philippa had never experienced before. Depression, desolation and anguish would descend upon her like a black fog during those six minutes. It was ‘all in her head’ – and of course it was. Without a diagnosis, colleagues, friends, even family, started to question the legitimacy of her pain. No one believed it was real.”

– Jamileh Clifford, 2016 entrant

I felt this extract was particularly powerful in demonstrating the different ways having a rare disease can impact a person’s life. Having a rare disease goes beyond the physical effects of the condition, and it’s incredibly important to remember the mental and social implications too. In this case specifically, on top of the pain she already felt, Philippa’s lack of diagnosis left her feeling alone, without anyone to turn to, and even her friends and family began to suspect there was nothing wrong with her – that it was “all in her head”.

This highlights two things to me. The first is that we must continue to challenge the notion that all diseases and disabilities are ‘visible’. Many conditions, both common and rare are unnoticeable to the average person on the street, but that doesn’t mean they don’t exist, likewise being undiagnosed does not mean you do not have a disease. The second highlight is just how important it is to have a collective rare disease community so we can ensure no one has to go through their journey alone.

Katie’s chosen quote

It is important for clinicians to direct patients to patient groups…these can offer tremendous emotional and practical help; Susan is part of a Facebook group for parents with children with Emanuel syndrome, and reading about what the older children are doing gives her hope. Students can work more closely with patient organisations, helping to organise events, publicity and lending their medical knowledge to patient questions.”

– Ella Mi, 2016 entrant

My favourite things to hear are real stories about real people. I chose this quote because I think it quite wonderfully sums up what our Student Essay Competition is all about; engaging with the struggles of the rare disease community and taking an active part in collaboration.

I love how the focus here is not on identifying issues and providing solutions as an external force, but genuinely listening to patients and supporting them on their terms. It is essential in the rare disease community that patients are given the loudest voice.

This quote also gives a simple example of what a powerful force a patient group can be. Often when discussing patient groups, there tends to be a focus on information and education, whereas Ella highlights here how the major value of finding a niche community can be the sense of hope it brings.

Libbie’s chosen quote

I found a limited amount of articles that often contradicted each other: some said that I had a 30% increased chance of a malignant tumor; some said differently. I was left feeling confused, baffled, and most of all, alone […] The limited knowledge surrounding rare diseases can also cause fear, rejection, and misunderstandings. I wore a cast for nearly three months, and while my classmates were initially empathetic, after some time, they began to feel that I was ‘seeking attention’ and ‘over-exaggerating’”

– Heba Abbas, 2016 entrant

Heba Abbas entered the 2016 competition with an emotional and eye-opening account of the true impact rare conditions can have on daily life. Heba found that her own diagnosis of Ollier’s Disease gave validation to her chronic pain, but that the lack of research led to confusion and the lack of awareness led to stigma.

While Heba goes on to discuss many more ways rare conditions impact daily life, this passage really stuck with me. I get annoyed when I can’t find easily digestible information on things like train times; I can’t imagine how frustrated and empty I’d feel if I couldn’t find straightforward information about my own health condition and how it will affect my life, especially if others began to doubt the reality of the situation I was in. As Heba goes onto say, “most of my anxiety stemmed from my lack of knowledge, and most of all, from the unknown implications […] It can cause the patient to feel powerless”.

As you can see, The Student Voice opens up some very unique perspectives, and often personal accounts of rare conditions. While there are often many excellent scientific accounts of the multitude of rare diseases, our entrants also capture the patient journey. We’re very excited to see what this year’s competition will deliver!

Meet the team: Royal Parks Half Marathon

This week’s blog continues our “Meet the team” blog series, introducing our fundraisers to the Findacure community. 

Meet our Royal Parks Half Marathon team!

In October, Findacure will see 6 of its supporters taking on the 13.1 mile challenge of the Royal Parks Half Marathon. In this week’s blog we introduce a few of our team members and hope you will join us in welcoming them to the Findacure community.

Concetta De Martino

Can you tell us a bit about yourself?
I am a PE Instructor in a special needs school. I am 54, I speak Italian and I am a type 1 Diabetic. I play football, netball, squash, badminton and I run. In 2003 I won on the TV quiz show the Weakest Link – Anne was very rude about my hair!
Why did you choose to run for Findacure?
Both my grandchildren have muscular dystrophy and I wanted to support a friend who works for the charity.
Have you taken part in any similar events before?
I have run various half marathons and have done the London marathon twice. I have also run over 30 10k’s. I have hiked Machu Picchu, done the 3 Peaks and cycled coast to coast.
What’s your go to song or album to run to?
Anything on my random shuffle mix.
What’s the funniest fancy dress costume you’ve seen someone run in?
Not funny, but admiring, I saw someone run with a washing machine on their back…respect! I wore an Alien mascot outfit for a charity football game recently and I got so hot standing around and trying to be funny, there is no way I could run in costume!
Do you have any other hobbies?
Travelling, and I recently swam with sea lions on the Galapagos Islands. I am also a member of a book club – we are on our 65th book.
What’s your favourite film/book/tv show?
I love Only Fools and Horses!

Libbie Read

Can you tell us a bit about yourself?
I’m the Projects and Communications officer at Findacure. I was born a proud Lincoln yellow-belly but in my late-teens I moved to Cambridge to study. I fell in love with the city and although my post-graduation job hunt was nationwide, the location of the Findacure role was an added perk to an already dream job. So here I am – two years in and loving it!
Why did you choose to fundraise for Findacure?
In my work at Findacure, I’ve come to understand just how devastating diagnosis of a rare condition can be. I’ve met parents who have lost children to diseases that have no known cause, I’ve met patients who have battled for years for a diagnosis, and I’ve met families who are fighting so hard for a treatment.
This situation can only change with determination, collaboration and funding. I am going to be cycling to London and swimming 3km the day before the half marathon to try to raise as much money as I possibly can! (Also, after guilt-tripping all of my friends and family into fundraising for Findacure, I thought I was well overdue a go!)
Have you taken part in any similar events before?
I have always been a bit of a fitness nut and used to do a lot of track and cross country running. I’m hoping (well, praying!) that residual fitness from these will carry me over the line in the Royal Parks as I’ve left the training for my “triathlon challenge” far too late! But hey ho, it wouldn’t be a challenge if it were easy.
Whats your go to song or album to run to?
I actually tend not to listen to music when I run. Being aware of your surroundings is really important when darting around the UK’s bicycle capital! Plus I prefer the time and space to get my head straight after a busy day.
If you could run the Royal Parks in fancy dress, what would you choose?
If I could run the Royal Parks in fancy dress, I would choose to be a hedge. That way I could take a breather without anyone noticing and feel like people are supporting me when they shout “Run Forrest, Run!”
Do you have any other hobbies?
Football is definitely my favourite hobby. I love losing myself in a hard-fought match and playing alongside my awesome team! Recently I’ve also taken up knitting. I’m still at the stage of unexplained holes and wonky edges, but unpicking is part of the fun (at least that’s what I tell myself).
What’s your favourite film/book/tv show?
Too many to say! Coincidentally my current book is ‘The Running Man’, an autobiography of long-distance runner Gilbert Tuhabonye who survived massacre as a child during the Burundian Civil War. It’s an eye opening and inspiring read to say the least.

Stéphanie Riber

Can you tell us a bit about yourself?
I am a 27 year old french girl from the south of France (Nice). I am currently a postdoctoral researcher at the University of Cambridge in the Maths Department.
Why did you choose to fundraise for Findacure?
I choose to fundraise for Findacure to help the research for rare diseases, and to find appropriate treatments for patients. Research must be more developed and deeper investigated.
Have you taken part in any similar events before?
No, it is the first time I have run for a charity and I will try to do more races like this.
Whats your go to song or album to run to?
I like running to rock music, like The Fray, Coldplay of Simple Plan.
What’s the funniest fancy dress costume you’ve seen someone run in?
The funniest fancy dress costume I have seen someone run in is a lion costume by one of my best friends. He ran with it in a 10k race in Antibes (south of France).
Do you have any other hobbies?
I love hiking in mountains and skiing! I also like relaxing my mind by playing the piano. I also enjoy going out with friends to pubs and parties.
What’s your favourite film/book/tv show?
My favourite films are the ones of Louis de Funès, they are quite old but so funny. I also really like the Harry Potter books and movies.

Amalia Thomas

Can you tell us a bit about yourself?
I am originally from Argentina, I moved to Cambridge for my PhD in Maths two years ago. I am currently studying the separation of particles by size in granular avalanches (sand, snow grains etc).
Why did you choose to fundraise for Findacure?
A friend told me about it and I thought running a half marathon was a challenge I was up to with a little training, and I’d like to help out with Findacure’s work!
Have you taken part in any similar events before?
I ran 10k for Cancer Research in June. The half marathon will be my farthest race yet.
Whats your go to song or album to run to?
My go to running music is the charts.
What’s he funniest fancy dress costume you’ve seen someone run in?
A dinosaur!
Do you have any other hobbies?
I like playing field hockey and doing crochet.
What’s your favourite film/book/tv show?
My favourite tv show is Breaking Bad.

We would like to say a big thank you to all our fundraisers, if you’d like to show your support you can find their fundraising pages here.

Weaker muscles, stronger family

This week’s blog shares the story of Kerry Shippey whose son George who was diagnosed with Duchenne Muscular Dystrophy less than a year ago.  It provides an eye-opening insight into life pre- and post-diagnosis of a rare condition.

George was our first born son. He took a week to enter this world and finally arrived on 29th February 2008. He was perfect.

As he started to reach developmental milestones, he seemed a little slower than others, but we were advised that boys had a tendency to be slower, all children develop at their own pace and there was nothing to worry about. So we didn’t think anything of it. As a toddler, he tripped up regularly and again we were advised this was normal. Life progressed, and it wasn’t until his brother Jack was born two and a half years later and reached the same milestones that we started to wonder further.

George developed large calf muscles and people would comment to us what amazing muscle definition he had. We have always been a sporty family and spent a lot of time outdoors, swimming etc, so didn’t think anything of it. Little did we know that this was such a key sign.

George progressed through Infants school with some slower learning challenges and lacked concentration but again we were advised that boys have a tendency of this so life continued. It wasn’t until George had just turned 8 and in his first year of juniors that we started to feel he was really struggling and needed further help. He was getting more fatigued, started to complain of pain in his legs, walking more on his toes, and was finding stairs and getting up from the floor much more difficult. We went to watch George in his first junior school sports day and it was very evident that something was wrong, and he couldn’t keep up with his peers at all. The school raised concerns too about his overall physical ability. George was having a course of cranial massage at a local osteopath to help improve his concentration and fidgeting, and we discussed George’s symptoms. The osteo checked his hips which were ok, although he suggested we see our GP as he thought it could be dyspraxia, and we started to research this. It sounded possible.

George was first seen in Basildon Hospital on 14th September 2016 following a referral from our GP and a local physio friend. After being physically assessed we were comforted to hear that the consultant didn’t believe it was neurological and felt a bit more relaxed, although he sent George for a blood test and wanted us to see a paediatric consultant for a second opinion. The next appointment was 3rd October. Our concerns in between were growing as we decided to look up every abbreviation listed on the blood test request, and the reference to ‘Gowers test positive’. We had never heard of Gowers until we looked it up on the internet! The more we researched on the internet what the blood test was testing for, everything pointed back to Muscular Dystrophy.

As heartbreaking and painful as it was, we trawled and trawled. Everything about George’s life journey physically and learning wise was making total sense, but surely it couldn’t be Duchenne we thought! As most boys were diagnosed much younger we clung on to hope that it was a better outcome! On 3rd October 2016 we were back at Basildon Hospital for the blood test results and a second opinion. The Creatine Kinase level in George’s blood was significantly elevated which confirmed Muscular Dystrophy, and we were referred to Great Ormond Street Hospital (GOSH). We talked to the consultant about what we had researched and tried to find any reassurance from her body language. Could it be Becker MD I asked?! She nodded and said a further genetic blood test would be required to confirm a clear diagnosis, and George would now go under the main care of Great Ormond Street. In mid-October we received a copy of the Basildon Paediatrician letter to GOSH with the words ‘Diagnosis: Possible Duchenne Muscular Dystrophy’. Heartbroken, our life journey changed from that day!

On 9th November 2016, our world was completely shattered when George’s  diagnosis was confirmed as Duchenne Muscular Dystrophy.

Even though we knew something was wrong for some time, we could never have prepared ourselves for the devasting news. In that split second, our world turned upside down! How could this be happening to our special boy George. He is so innocent, so loving, so kind, so caring, such a happy little boy. Why him? What has he done to deserve this? What have we done to deserve this? What will this mean for him…for us as a family? We are going to lose him….our beautiful boy, to this dreadful disease!! How long have we got…nobody can tell us, but the outlook is bleak and the average life expectancy is mid to late twenties.

I was totally heartbroken. I cried, and cried and cried. I was in shock and absolutely devastated. I felt overwhelming sadness and sudden emptiness of grief. Our son was slowly dying. We are going to lose him. It was like a sudden death sentence. It was ripping our hearts out and there was nothing we could do to control getting him better. Sleepless nights thinking of everything and nothing…trawling the internet day and night to look for a cure overseas, and wondering why there was no cure….anywhere!

All our family were naturally devasted too, but the one thing that Duchenne Muscular Dystrophy can’t take away is the sheer amount of love and care we all have together which will keep us as strong as possible for George.

After his diagnosis life quickly developed into endless weekly hospital appointments and tests, physio assessments, occupational therapist assessments in school and at home for adaptions and support needed, night splints, steroids, muscle biopsy, disabled badge, learning assessments, school meetings for an EHCP and one to one support, endless paperwork, appeals and attending a court tribunal to get Disability Living Allowance, and a wheelchair !

Amongst all the medical and formality mayhem, we had to quickly come to terms with our new journey (as much as you can come to terms with DMD). I suppose it’s more acceptance! We stopped looking at the internet and longer-term impacts. We now live life by the month and we try to enjoy it even more than we did before, creating fond family memories together. We gave ‘it’ a name, and explained he was born with it, and that his friends couldn’t catch it. We explained that there is no cure and the scientists are working hard to find one. George said he wants to be a scientist in future!

George is slowing down at home and school, and cant keep up with his friends. He is getting more frustrated, and falling more frequently. His toes have started to turn inwards and his shoulders are weakening. George has a special chair to sit on at school and home to be more comfortable, and a chair lift for the five internal steps in school is being fitted. He sits on a bench for school assemblies to avoid the floor, and he uses a laptop for longer writing.

We have started to accept our new life journey now. We take George in the car or his wheelchair a lot more rather than walking places locally. We have to find a new house as our family home we have loved can’t cater for future adaptations he will need, and we have quickly learnt that we have to fight for everything on this new Duchenne journey!

George has started karate and playing the guitar, which he loves. He still has life ambitions, he still tells us funny jokes, he still fights with his brother, he still has a great cheeky personality, and he is still our beautiful son George, big brother to Jack, and little brother to Lewis and Daniel. Whilst George’s muscles are getting weaker, we have become stronger as a family. George recently did a powerpoint presentation on Duchenne to his school class, and we have tried to turn our grief and helplessness into determination and commitment to help raise funds to find a cure. It’s the only thing that you can control in this dreadful devastating disease.

We came across the charity Harrison’s Fund through one of its family ambassadors, whose son was diagnosed three years ago. His sister started in the same pre-school nursery and as parents we became friends before either of the boys were diagnosed with Duchenne, which is very ironic! The charity funds research into Duchenne and is our only hope for George and boys like him for a cure or access to better treatments. We have so far raised circa £19,500 for Harrison’s Fund this year and will continue to do everything we can to beat this disease once and for all.

 

Encouraging patient group-industry interaction

One of our core beliefs at Findacure is that success within the rare disease community is reliant upon the collaboration of its members. In order to ensure progress, patient groups, clinicians, pharmaceutical companies, biotech industries and academics must work together. However, the prospect of this can be daunting, with many not knowing where to begin, what’s even possible, or how they can initiate engagement. With this in mind, on Friday 8th September we held our biggest workshop this year on the topic of “working with industry”, at the Royal Society in London.

The workshop was opened by Mary Rose, Findacure’s Events Officer, who introduced the day’s theme and briefly highlighted the common goals and benefits of patient group and industry collaboration. [Click here to view Mary Rose’s slides]

Following this, Richard White from Oxford PharmaGeneis took to the floor to deliver the first presentation of the day. Richard provided an overview of the environments in which patient groups and industry can interact, paying particular attention to why they should interact, how they can work together, and how to bridge the gaps to ensure success. Richard emphasised how patient-industry partnerships can drive forward improvements in medical care and talked through the life cycle of meaningful engagement. Richard finished by providing examples of good and bad practice, such as avoiding ‘tokenistic involvement’ of patient groups, ensuring regular, open and honest communication, and treating each other as partners. [Click here to view Richard’s slides]

Next was Jill Prawer from the LPLD Alliance. Jill’s talk focused on creating funding partnerships with industry. Jill began by introducing the LPLD Alliance, and shared their own experience in securing funding to build their organisation. She then explored the key points of the ABPI code and the Charity Commission guidelines, which industry and patient groups must abide to when interacting. Finally, Jill presented a logistical overview of the different methods and means available to patient groups when applying for funding, including start up grants, unrestricted and restricted funding. [Click here to view Jill’s slides][Click here to listen to Jill’s presentation]

Following a short break, Rebecca Starkie from Covance provided a case for industry to seek patient perceptions in their work. Rebecca explained why industry should be looking for patient input in their work and the changing attitudes leading towards more patient involvement. Rebecca then explained their approach to incorporating patients in drug development and the benefits for doing so. Finally, Rebecca shared a case study of a recent survey they undertook to gain patient input on clinical studies. She explained how the results of the survey challenged their preconceived notions of what a patient with a rare disease would be willing to do in order to engage with research, and stressed the importance of industry taking action on the information they gather. [Click here to view Rebecca’s slides][Click here to listen to Rebecca’s presentation]

The morning was finished off by Ataxia UK’s Julie Vallortigara, who gave a case study of Ataxia UK’s research partnerships with industry and other ataxia patient groups. Julie explained the research strategy of Ataxia UK, with the ultimate aim of finding a cure for the ataxias. Julie then focused on how Ataxia UK facilitate research through giving advice on the research landscape, conducting surveys, providing introductions to experts in the field, and acting as the patient voice in research. Julie finished by sharing two examples of Ataxia UK’s involvement with industry, the first of which allowed them to create a cost of illness economic model for ataxia, and the second which led to the creation of an international ataxia research consortium. Julie’s take home message was the importance of networking in allowing patient groups and industry to meet and start relationships that can lead to future progress. [Click here to view Julie’s slides][Click here to listen to Julie’s presentation]

Following a fantastic lunch and networking break, the workshop resumed with our panel session. Several key themes were explored, including what patient groups can do to encourage interaction with industry, implications of rules and regulations on these collaborations, and ethical considerations for patient groups working with industry.

The workshop concluded with our afternoon activity. In this session, we asked our delegates to work together in mixed tables of patient groups and industry representatives, and share their own experiences of patient group and industry collaborations, and explore the challenges and advantages of this type of interaction.

The first discussion point concerned forming collaborations, and looked at the aims and motivations of both parties, and their concerns when working together. In feedback, the main aims for industry tended to focus around improving their communication to patients and identifying patients for research purposes, while patient groups wanted research opportunities, raised awareness and ultimately a cure for their disease. Some of the concerns raised included industry managing patient group expectations and patient groups maintaining their independence from pharma.

For the second half of the session, our delegates looked at Clause 27 of the ABPI Code, which addresses the pharmaceutical industry’s relationships with patient organisations. For this part, we asked attendees to share their interpretation of the code’s aims, and assess its strengths and weaknesses. There was general consensus that the code helped assure ethical practice between patient groups and industry, and avoid any conflict of interest. However, many commented that the code was ambiguous and could result in pharmaceutical companies avoiding interactions with patients for fear of breaching the code. All in all, this proved to be a very insightful activity and we would like to thank all of our delegates for being so open and engaged throughout.

We would like to say a big thank you to our excellent speakers for sharing their expertise, all of our delegates for attending, Barbara Asboth for her wonderful photography, and Oxford PharmaGenesis for sponsoring the workshop.

With thanks to our sponsor

Oxford PharmaGenesis provided financial support for this event. This event was solely organised by Findacure and our sponsor did not determine the content.