Peer mentoring programme: Meet Wendy

Following the launch of applications for our 2018 peer mentoring programme, we would like to share the story of one graduate, Wendy Horrobin, to show what patient groups can achieve on the scheme.

Wendy’s 9 year-old son was born with Norrie disease. Norrie disease causes blindness from birth and hearing loss. It can also cause cognitive impairment, autism and mobility issues. Until 2015 there was no dedicated UK charity to support the Norrie community, and there was very little information available to families and to visual and hearing impairment specialists.

In December 2015, Wendy and two other Norrie families met for the first time. They knew they wanted to work together to support the Norrie community, but they had no idea how to reach their goals.

Wendy applied to Findacure’s peer mentoring scheme and was matched to Kamlesh Sheth, a consultant to the pharmaceutical industry, in September 2016 for a year. The pair set their goals for the scheme and began working towards them straight away. In January 2017 the Norrie Disease Foundation was registered as an official charity and established a Medical Advisory Board (MAB). This included medical professionals from every aspect of Norrie disease. The MAB had its first meeting in April 2017 and contributed to the content of the charity’s website, which was also launched in April. This has helped to ensure the website is a credible source of medical information for families, specialists, schools and others.

“I would like to say a massive thank you to Findacure for making this opportunity possible and to Kamlesh for his support. Without question, if it hadn’t been for this programme and Kamlesh, we wouldn’t be where we are today.”


In May 2017 the charity had its official launch at UCL GOSH. Medical professionals had estimated in 2015 that there were 6-12 Norrie families in the UK, so it was amazing to see 20 families attend the launch. Most families had never met another person facing Norrie disease and it was an incredibly important opportunity for the families to share experiences and stories.

The Norrie Disease Foundation also started its own mentoring scheme for families and launched a PhD studentship at UCL GOSH in October, funded by New Life and Sparks. The PhD student will be researching the hearing loss associated with Norrie disease.

The Foundation are now planning their third Norrie community meet-up and a weekend away for over 30 families. Wendy was incredibly grateful to Kamlesh for his support throughout the year and truly believes they wouldn’t have achieved so much without him and the Findacure mentoring scheme.

Findacure would like to congratulate Wendy on such a productive year, and say a huge thank you to Kamlesh for volunteering as a mentor on the programme.

We are searching for both mentees and mentors to join our 2018 peer mentoring programme. If your patient group needs guidance in its development, or if you have advice that would help a patient group to progress, do check out the scheme and apply today!

Gone in a flash - making the most of a Findacure lightning talk

You can say a lot in five minutes. But saying something meaningful, impactful, and memorable can be a challenge. In 2015 Findacure held its first ever lightning talk session. Initially we were simply looking for a series of short talks to help provide talking points at our first networking event. The five minute lightning talk format gave us the chance to showcase some fantastic stories from the rare disease world, and create a relaxed but informative atmosphere for the evening. However, this quickly evolved as we recognised a fantastic opportunity to allow delegates at our events to engage with the rare disease community. Our lightning talks now provide anybody the chance to share their story with all those interested in rare diseases – in a perfectly packaged five minute slot. All you have to do is submit your idea when you register.

Over the past two and a half years, 48 people have taken to the stage at one of Findacure’s community building events. Whether at our conference, a networking evening, or a rare disease showcase, patients, support groups, academics, and life science professionals have all seized the opportunity to share their stories. In a number of cases these talks have acted as a gateway, helping patient groups to secure further speaking opportunities, or to start new collaborations.

So, what makes a good lightning talk?

There is no one correct answer, but there are a few key things to consider. Firstly, it is important to limit your ideas. In five minutes you can communicate only a few key concepts well, and clarity is crucial if you want to make the most of your opportunity.

At our 2017 Conference Ruth Slater from Mast Cell Action gave a great example of this. She aimed to clearly convey the basic symptoms of Mast Cell Activation Syndrome, the need for treatments, and the potential for a wide number of existing drugs to help the condition. These key points were all delivered in a well-planned and structured talk, which was anchored around the example of a young girl’s experience with the condition. This all made for an excellent clear talk, which left the audience with more knowledge and more understanding of the condition and the needs of patients.

Secondly, the best talks tell a story, either the progress of a project, or a personal journey. This kind of talk can draw the audience in, making them care about your cause.

David Rose gave a great example of this at the 2017 Cambridge Rare Disease Showcase. David used his talk to describe his rare condition, Occipital Horn Syndrome, and his own personal journey to secure a diagnosis and make contact with some of the other 20 known patients in the world. This simple talk was honest and powerful, and made a great impact on the audience.

Thirdly, a little humour can go a long way – the short format of the talk can allow speakers to be a little more creative in getting their message across. Humour can help to drive a point home, while relaxing your audience: a great way to ensure your talk is memorable if you can pull it off.

Elizabeth Allen did this with aplomb. Her talk focussed on the importance of communicating medical information clearly to patients. This is a hugely important issue in the complex world of rare diseases, and Elizabeth highlighted the way that jargon can cause huge problems in communication, many of which are amusing, but the consequences are rather serious for patients.

If these excellent talks and tips are leaving you feeling inspired you’ll be pleased to learn that you have the chance to join the ranks of our illustrious lightning speakers. On 27th of February 2018 we will be hosting another lightning talk session at our Drug Repurposing for Rare Diseases conference. As our biggest event of the year it is a great opportunity for you to take the stage and share your rare disease story.

Are you up for the challenge?


Accessing medicines for rare diseases

Treatments for rare diseases are few and far between, and when they do exist, patients – understandably – want access to them. However, accessing medicines is no easy process and patients often face endless obstacles in getting drugs licenced and approved for reimbursement in the UK. With this in mind, on Wednesday 22nd November, we held our final workshop of 2017 on the topic of access to medicines.

Mary Rose, Findacure’s Events Officer, opened the workshop and introduced the day’s theme, highlighting the basic barriers to access, as well as overviewing some of the options available to patients who are seeking treatment for their condition. [Click here to view Mary Rose’s slides]

Our first presentation of the day was delivered by Josie Godfrey, Director of JG Zebra Consulting. Josie spoke about the challenges in accessing medicines for rare disease patients and, having previously worked at NICE, was able to provide great insight into the current route to access in the UK. She highlighted the different organisations involved, including regulators, health technology assessment agencies, and the NHS, as well as the different questions they have when making decisions about access, such as whether a treatment works and is safe to use, whether it’s effective, and whether it’s good value and affordable. Josie also spoke about some of the reasons why making a decision about access is so difficult, including the problematic method of assessing drugs for rare diseases on a system designed for common diseases, as well as the ethical considerations at play. Josie finished by addressing what patients can do to help the process such as putting forward a strong case on the impact of their condition and the difference a particular treatment will make. [Click here to view Josie’s slides][Click here to listen to Josie’s presentation].

Up next was Nick Meade, Director of Policy at Genetic Alliance UK. Nick’s talk focused on how we fix the current “mess”, and what the future route to access could be. Earlier in the year, Genetic Alliance UK ran a call for evidence on the topic of access to medicines, which revealed the frustrations of rare disease patients in accessing treatments, particularly where there appears to be a drug that could benefit them, but which is unavailable within the UK. Nick spoke about the structural difficulties in the current access model, and the different systems used within the UK itself, as well as the underlying problems – touching again on the issue of using the same method to assess drugs for both common and rare conditions. Nick also highlighted some of the future challenges to access, such as gene therapy treatments, which would have high initial costs, but long term benefits both financially and medically. Finally, Nick discussed their vision for a solution to the access to medicines problem – resetting the model to create a system which is flexible to the needs of rare disease patients, transparent, effective, and quick to make decisions. [Click here to view Nick’s slides][Click here to listen to Nick’s presentation].

Following a short break, we resumed with the first of our two patient group case studies. Lindsay Weaver, Chief Executive at Climb, shared their experience in gaining access to a treatment for Hypophosphatasia (HPP), an ultra-rare metabolic bone disorder. Climb’s journey took them through NICE’s Highly Specialised Technology Appraisal process and began in May 2015. Two years later, following several meetings, questionnaires, consultations and evidence submissions, they negotiated a Managed Access Agreement for the drug Strensiq. This ensures that, for a limited amount of time, those in most need of treatment receive it, and allows for further gathering of evidence on the drug’s benefit, in the hopes that it will be made available to the wider cohort of patients. Lindsay’s advice to patient groups was to make sure they are engaged with their community, work strategically and collaboratively with all stakeholders involved in the access process, and – importantly – to gather support from other patient organisations. [Click here to view Lindsay’s slides][Click here to listen to Lindsay’s presentation]

Our morning was rounded up by Vanessa Christie-Brown, Research Coordinator for SMA Trust and Europe Coordinator for SMA Europe. Over the last few years, SMA Trust have been involved with a pharmaceutical company, helping to licence a drug for Spinal Muscular Atrophy (SMA), to ensure that patients with the most need gain access to the treatment. They are now just weeks away from a NICE decision which will determine which access route will be taken for the treatment. Vanessa’s presentation focused on the role patients have played in this journey, particularly in addressing what they wanted from a treatment. Importantly, they overwhelmingly stated that they were less concerned about having a drug that would improve their condition, instead preferring something which would stabilise the disease and halt further degeneration. [Click here to view Vanessa’s slides][Click here to listen to Vanessa’s presentation].

After breaking for lunch, our speakers returned for the afternoon panel session, which included questions on how patient groups can maximise their involvement in the decision making process, how access can be improved, and the prospect of individual funding requests. Lastly, the workshop was concluded with our discussion session, which addressed some of the day’s major themes. In groups, our delegates examined the various points of access to rare disease medicines, including who is most likely to receive drugs through different routes and who controls and pays for the drug, how patient groups can help improve the process, and also their ideas for building a new and improved system.

Overall, the workshop was a great success, and we hope all of our attendees went away feeling engaged and informed about the access process. We would like to say a big thank you to our speakers for sharing their experiences and expertise, all of our delegates for attending, and White & Case for their excellent hospitality.

We would like to say thank you to our funders Amgen and Shire for providing financial support for this workshop. This workshop was solely organised by Findacure and our funders did not determine the content.

Keep it secret, keep it safe – patient group data under GDPR

GDPR. Four little letters that have been appearing on my radar with increasing persistence over the last year. GDPR. General Data Protection Regulation. It sounds a little ominous.

GDPR is a new set of regulations that comes into effect on the 25th May 2018, which are designed to ensure better protection and personal control of an individual’s data. The general ethos is probably something we can all get on board with as private individuals: we would like to retain control of our information wherever possible, provide active consent for our involvement with an organisation, and to feel confident that any data we do share is stored securely. However, the regulation does place a significant burden on data holders and processors, and takes little account of the size or purpose of those organisations. This means that small patient groups and charities do need to think seriously about the data they use, and how they collect and store it.

On the 10th of November Findacure were involved in an event run by Kudos Health which was designed to educate small rare disease patient groups about GDPR, and help them to begin thinking about how their organisation can become compliant. The session was exceptionally informative, and it gave the audience a chance to think about how their work will interact with the new regulations. The topic is certainly daunting so we were hugely grateful to Kudos Health for arranging the event, and hope everyone who attended found it beneficial.

Data is central to most rare disease patient groups. We are generally built upon the idea of forming a community of those affected by a given condition, and subsequently rely on securing contact details and information for patients and making introductions. From there patient groups may develop into holding more specific medical data as part of a disease registry, or helping to introduce patients to potential clinical trials, studies, or projects that can advance scientific understanding of a condition. All of these activities require data to be held and shared, and it is down to the patient organisation to ensure they have evidence of consent from the individuals concerned, and store all data in a secure manner.

Luckily patient groups are in a unique position where they are formed to serve their community, and those who share data with them generally do so because they want to help the group, to receive support themselves, and want their health data to be used to further research. This means that securing the consent of your users should be straight-forward, if you can reach them easily.

At this stage there are a few simple starting points that all patient groups can do to address GDPR:

  • Work out what type of data you collect and hold, and assess any existing privacy policies and consent terms.
  • Make sure you have a clear policy on any data you are holding – how long will you keep it, how will you use it, and with whom will you share it? Make sure this policy is widely available.
  • Try to have standard routes for sharing data internally. Don’t store data in lots of different places, or send it to a multitude of different email accounts. Have a simple procedure for storing and accessing it, which everyone can follow.
  • Ensure that you have clear opt-in consent for your mailing lists, and that anyone whose data you collect has consented to your privacy policy. Aim to secure permission from those who haven’t provided it.
  • Think about ways to protect any data you hold. Password protecting documents, or anonymising data in any one location wherever possible.

GDPR is certainly daunting, but the important thing for small patient groups to do now is to show that we have thought about our own data procedures. Aiming to find simple ways to secure consent, and build simple and secure procedures for data storage will protect our patients and protect the group.

If you would like to learn more about GDPR, or discuss your approaches to this new regulation with other patient groups, we have put some basic GDPR materials on our E-learning Portal under ‘Policies, strategies, plans and governance’. This includes an online forum, where we would encourage you to post your thoughts on the challenges and solutions to small groups becoming GDPR compliant. We will try to develop our materials as we work on the issue ourselves, and would love to hear your thoughts on how we can help. Of course, we aren’t able provide full legal advice, and would recommend this as the best route if you are in doubt about GDPR compliance.

Newcastle Rare Disease Showcase Review

Newcastle is known for many things – brown ale; the Geordie accent and love of conversation; Ant and Dec; some of the world’s most passionate football supporters; and being voted the best city in the UK in 2014. Importantly, though surprisingly to some, Newcastle is also a hub for excellent rare disease research. On the 31st of October 2017 the Findacure team opened the doors of the Centre for Life, welcoming the rare disease world to The Newcastle Rare Disease Showcase with the aim of highlighting the great research being done in the North-East of England.

The day followed the format of our successful Birmingham event in 2016, with a series of talks in the morning and early afternoon, before a lightning-talk filled two-hour networking session rounded off the day. As usual, Findacure CEO, Dr Rick Thompson, opened the event sharing the reasons we should all care about rare. He highlighted the experiences shared by rare disease patients regardless of the symptoms of their condition: multiple misdiagnoses, isolation, difficulty maintaining employment, and little hope of treatment. After introducing our patient empowerment programmes to the Newcastle audience, and touching on our social impact bond project, Prof. Mike Briggs took the stage.

You can hear Rick’s talk here.

Mike is a Professor of skeletal genetics at Newcastle University, and was instrumental in bringing the showcase to Newcastle having contacted Findacure with the idea in 2016. Mike is a big advocate of drug repurposing as a way to deliver new drugs to rare disease patients, and shared the story of his work to develop a drug for the rare bone disease metaphyseal chondrodysplasia type Schmid (MCDS). This condition leads to reduced bone growth, particularly in the limbs, which can result in bowing of the legs and joint pain. Mike’s work on skeletal genetics has led him to focus on many of the common underlying mechanisms in skeletal diseases. One such mechanism, which is also seen in many other rare conditions, is cell stress. Through understanding how cell stress occurs Mike and his collaborators were able to identify a 50 year old drug that is able to lower stress and restore normal bone growth in MCDS model mice. This work is now in the process of being moved to a first in-human clinical trial.

You can hear Mike’s talk here.

Our third talk touched on another of our major themes for the day – access to medicines. Nigel Nicholls from Biomarin gave a talk on a new type of model that the NHS are using to pay for drugs in England: the managed access agreement. Here patients are prescribed a drug on the NHS for an appropriate illness, but have to undergo careful monitoring. Their progress is assessed regularly to see the effects of the drug on their health and quality of life. If certain goals are reached, treatment is continued, but if not, the drug is withdrawn. The idea is that only those that benefit from an expensive drug should receive access. Biomarin were involved in the negotiation of the first such agreement, and Nigel shared the huge positive impact made by the patient group in helping to secure this landmark deal, and ultimately treatment for their patient community.

You can hear Nigel’s talk here.

Our final talk before a well-earned coffee break came from Charlotte Proud. Charlotte lives with Osteogenesis Imperfecta – or brittle bone disease – and has had to live with fractures throughout her life. She shared her story of living with this rare condition, and impressed the whole audience with her outlook on life: “When they say you can’t, they’re showing their limits, not yours.” True to form Charlotte is passionate about sport, playing football, netball and hockey throughout school. She is an excellent runner, having completed 10 half marathons and 2 full marathons! A huge achievement for anyone regardless of bone strength! Charlotte was a fantastic advocate for brittle bone disease and all rare conditions, and it was a pleasure to have her at the event.

You can hear Charlotte’s talk here, and read more about her story in the press here.

After a short break we returned to the theme of drug repurposing, as Dr Neil Rajan from Newcastle University shared his journey in repurposing a drug for a rare skin tumour. The condition leads to benign tumours across specific regions of the body, in particular the scalp, and growth can be so extensive that total scalp removal can be the best option for patients. Due to the benign status of the tumour the disease is often considered minor and treatment development a low priority. Neil’s work with patient groups and individuals affected quickly convinced him otherwise. Through careful research he has identified a potential repurposed treatment for the condition, and this is currently undergoing clinical trials.

You can read more about Neil and his work on page 40 of Rare Revolution Magazine’s Rare Skin Edition here.

Next we returned to our access to medicines theme, with Richard Leach from Mawdsley-Brooks giving us an overview of named patient supply programmes. These programmes help patients to access drugs that are not currently licenced in their country – Richard shared an example of one rare disease drug that was licenced in Europe 20 years after it was first approved in the USA. Despite the lack of a licence, such drugs are still in demand from patients, and named patient programmes can help to provide vital medicine where it is needed.

After a lunch break with some top quality sweet potato fries, we returned to the conference hall to hear a clinical research perspective. Dr Hannah Steele is a clinical research associate working at Newcastle’s neuro-genetic clinic. This centre covers a wide range of neurological rare conditions, and is a registered ataxia clinic. Hannah highlighted how having a specialist neuro-genetic centre in the region can provide both high quality care to patients, and a fantastic hub for research into these poorly understood rare conditions. The Newcastle centre is involved in research projects and collaborations that track the natural history of disease, help to develop accurate diagnostic tests, and provide crucial new biomarkers that can allow the progress of diseases to be monitored much more carefully. This latter role is crucial as it will allow clinical trials to demonstrate a clinical impact of treatments over a shorter time frame, potentially allowing them to reach more patients more quickly.

The final talk of our conference programme was delivered by Victoria Hedley, who works at the John Walton Muscular Dystrophy Research centre in Newcastle. This centre, along with others in Newcastle, is a hub for a number of Europe-wide rare disease projects, which cover rare disease research with a particular focus on the neuromuscular, rare disease policy, and the new European Reference Networks. Victoria highlighted the truly collaborative approach we continually see in the rare disease field, and the impressive work coming out of Newcastle in this area.

You can listen to Victoria’s talk here.

With the close of our main speaker programme we moved to our networking and lightning talk session. Eight brave souls took the five minute challenge to share their rare disease stories with our audience. I don’t have the time to cover them all in detail here, suffice to say it was a pleasure to showcase the excellent work of patient groups, advocates, and researchers. You can see the full list of lightning talks below, with links to their recordings.

The whole day was a fantastic experience, and the programme really showcased the excellent work being done in the North-East of England. Newcastle is a real hub for research, fantastically connected with European collaborators, and growing its own network of rare disease patients. It was great to take the Findacure showcase to the city, and we look forward to visiting again in the future.

Lightning talk programme

Kerry Leeson-Beevers, Alström Syndrome UK – Breaking Down Barriers – developing supportive and inclusive services

Dr Ritchie Head, Ceratium Limited – Venture philanthropy funding for orphan drug development: The VISION-DMD case study

Brian Cullen – What is HHT?

Dr Tom Van Agtmael, University of Glasgow – Chemical chaperones as a therapeutic approach for collagen IV pathologies

Roberto Fernandez Torron, Newcastle University – The clinical outcome study for dysferlinopathy

Beryl Park, Ben’s Friends – Spinocerebellar ataxia: an experience of diagnosis in the North East

Rebecca Leary, Newcastle University – ERN-EURO-NMD: Diagnosis and care for patients with rare neuromuscular diseases

Nicola Miller, Rare Revolution – Rallying a rare disease community