Fundraising for rare disease patient groups

Being able to raise funds is critical for any rare disease patient group. While many begin as volunteer-led organisations – often by parents and patients themselves – as these groups grow, look to increase the size of their team and improve the services and support they provide, they have to ensure they have the right resources in place. Arguably, funding is the greatest resource a patient group requires. But if you’ve never worked in the charity sector before, the mere notion of fundraising can be an incredibly daunting prospect.

With this in mind, on Friday 29th June we held our second workshop of 2018 on the topic of “Fundraising for Rare Disease Patient Groups” at the Royal College of Paediatrics and Child Health in London.

Our first speaker was Beth Upton, CEO and Founder of Money Tree Fundraising. Beth, who across 14 years has raised millions of pounds for various causes, joined us to discuss how patient groups can ensure they have a thriving grant fundraising programme. Throughout her presentation, Beth summarised four key ingredients all patient groups need: organisation readiness, a pipeline of prospective grantmakers, compelling proposals, and capacity to deliver programmes. Beth argued that patient groups will find it easier to secure funding if they have charitable status and a two-year track record of running projects, as many funders are unwilling to give to non-charities. She also stressed the need to have clear evidence for why your organisation exists, be able to clarify the urgency behind your work, and have the ability to tell a compelling story that funders can buy into and support.  Finally, Beth highlighted the need to make sure you have the right person for the job, hiring people who have the right skills for fundraising and making sure they are kept fully informed on both the project and financial direction of your organisation.

[You can view Beth’s presentation here]

[You can download Beth’s slides here]

Next up was Frances Greaney, Trust and Legacy Fundraiser at DEBRA who presented on writing successful trust applications. Frances warned the audience to “avoid the bin”, stating that 80-90% of applications are rejected immediately because they don’t meet the trust’s priorities for funding. Therefore it is crucial that before making an application, patient organisations assess whether a particular trust is right for them, and if so, follow any guidelines that may be provided. Frances also pointed out as rare disease charities, it is unlikely that the person who ultimately reads your application will ever have heard of the condition you support. As a result, it’s important to keep your application simple – quickly and concisely telling your charity’s story, keeping the scientific and medical details limited, and demonstrating the impact the condition has on people’s lives. For a really compelling proposal, Frances suggested using photos and quotes from your own community, not only showing how their rare disease affects them but also how your organisation has helped them. Finally, using her own experience at DEBRA, Frances summarised the key elements which need to go into a good application, including, the outcomes you aim to achieve, how you will evaluate and measure success, the timescale of your project, and a breakdown of the resources you require funding for.

[You can download Frances’ slides here]

Our final speaker of the morning was Findacure’s own CEO, Rick Thompson. With Beth and Frances focusing on trust and foundation applications, Rick addressed another area of fundraising – company giving. Rick began by explaining some key reasons why corporates want to give to charities. Firstly, companies are concerned with their public image and perception of their brand, and secondly, they want to create a positive atmosphere within their own organisation. Working with charities helps in these areas as it promotes the idea that the company is socially responsible, and allows employees to feel like they’re making a difference to a specific cause. Rick then went on to overview three major routes for company giving – corporate grants, event sponsorship and active engagement. When looking at sponsorship, Rick put forward that this should be viewed more as a conventional business agreement, targeting marketing budgets, where charities can offer a company a set of benefits which allow the company to promote itself. Finally, Rick gave examples of where companies can actively engage with charities, whether this is through pro bono support, funding and delivering a specific project, or even running fundraising events on behalf of your organisation.

[You can view Rick’s presentation here]

[You can download Rick’s slides here]

Following lunch, we were joined by Katie Rabone, Director of Fundraising Action and an Associate Trainer at the Directory of Social Change. Katie came to deliver a training session to our delegates on developing a fundraising strategy, which included discussing how and why organisations should involve its stakeholders when formulating a fundraising strategy, internal and external factors which need to be considered – such as who your audience is, the capacity of your team, and what the financial market looks like – and the importance of an easily identifiable mission and vision statement. The highlight of this session was an activity where we were asked to share what we thought fundraising meant, through the form of Lego. One group created a scene where multiple people were fighting over a single 50p – demonstrating how saturated the fundraising sector can be when thousands of charities are applying for the same pot of funding.

We would like to a say a huge thank you to everyone who came along to our workshop, and of course to all of our speakers for sharing their expertise and experience with us. We would also like to thank the following funders for supporting our Patient Empowerment Workshop Programme 2018: AbbVie, Amgen and Novartis.

The rare disease diagnostic odyssey: A medical student’s perspective

Rare disease patients often face a difficult journey to diagnosis, commonly termed a ‘diagnostic odyssey’. This often involves moving from clinician to clinician, multiple misdiagnosis, unnecessary tests, and incorrect treatments. In this week’s blog, Narmadha Kali Vanan considers the impact of this on patients as well as the perspectives of medical staff.

Before I personally encountered a patient with a rare disease, mentions of rare diseases in medical textbooks led me to naively believe that these diseases would be instantly recognisable since their constellations of symptoms appeared to be so unique. When I encountered a child with Beckwith-Wiedemann Syndrome (BWS) during my paediatrics placement, I was keen to learn more about the condition, which I had never heard of before.

BWS is a congenital overgrowth condition associated with an increased risk of developing tumours (1). With an estimated incidence of 1 in 13 700, BWS satisfies the criteria of a rare disease, which is defined by the European Union as a disease that affects less than 5 in 10,000 of the general population (1, 2). Further research into this condition highlighted the features of BWS which makes it a challenge to diagnose. 85% of BWS cases are sporadic, arising as a result of a random mutation instead of an inherited gene defect. Furthermore, the hallmark features of exomphalos, macroglossia and gigantism are not always present as the clinical presentation of BWS is highly variable (1). The enormity of the diagnostic challenges associated with rare diseases began to dawn on me as I considered the cumulative effect these features would have on the diagnostic process of BWS.

The term ‘diagnostic odyssey’ encompasses the time from initial disease recognition or symptom onset to a final diagnosis as experienced by patients with rare diseases and their families. This usually involves multiple referrals and encounters with specialists and a battery of often unnecessary investigations (2). The average rare disease patient consults five doctors and waits four years before receiving a final diagnosis (3). This prolonged diagnostic journey is bound to have an impact on the patient at the centre of it all, with the right diagnosis and the appropriate treatment being delayed – potentially causing their condition to deteriorate further.

Patients have to face the frustration of attending multiple appointments as they are referred from one specialist to the next, alongside having to take time off work and school. Concerns may be raised about an individual if they miss too much work and this may lead to loss of income. If the patient concerned is a child, having to miss school to attend appointments may leads to feelings of social isolation. These factors can add to the stress of seeking out a diagnosis, alongside not having a named diagnosis to explain the situation to others. The psychological impact of the diagnostic odyssey is undeniable, with the stressors above combined with hopelessness and uncertainty about the future predisposing patients to conditions such as anxiety and depression (4).

Without a named condition, patients in the midst of this diagnostic journey also face issues with accessing coordinated care for themselves. Once the common conditions are ruled out, the diagnostic process can slow down as the patient may not fit into a box for further referral onwards to a certain specialty and the question arises as to who is best placed to care for the patient. This issue is further compounded by the fact that communication between hospital and local health services and even between hospital departments are often fragmented. The burden of ensuring that healthcare professionals have access to investigation results and documents from previous consultations falls to the patient, who often has to bring their own records to appointments or update their primary consultant (if there is one) if needed (3).

The battery of tests that these patients are often subjected to are not without their risks. Patients are bound to experience more anxiety associated with test results considering the high stakes of the situation. False positives and incidental findings that these tests unearth may become red herrings which mislead clinicians who are desperately trying to get to the root of the issue and may further cloud a clinical picture which is likely to be confusing enough as it is.

It is easy to understand how a patient and their family could lose faith in the medical profession while shuttling between specialists without an endpoint in sight. This is further worsened by misdiagnoses – the average rare disease patient receives three misdiagnoses before their final diagnosis (4). The emotional turmoil and unnecessary treatments associated with misdiagnoses add to the notion that the patient-clinician relationship suffers as a result. For example, if a patient has been misdiagnosed in the past, they may be more cynical of their doctor’s suggestions due to past experiences and the doctor then faces an uphill battle in inspiring the patient’s confidence in their diagnostic reasoning. Misdiagnoses may be perceived as ‘time wasted’ by patients as they may have undergone a different treatment pathway than what was required. The sequelae of the disease itself may have progressed further due to the delay in obtaining the correct diagnosis and appropriate treatment than it would have if the diagnosis was made sooner.

It is also important to consider the clinician’s perspective in this situation – a clinician may feel inadequate if they are unable to figure out what exactly is this problem and this may translate into them feeling as if they cannot be completely honest with the patient. This may lead to doctors wanting to err on the side of caution and not commit to a single diagnosis alongside referring the patient to another clinician, which may leave patients feeling frustrated. Some clinicians are also likely to seize the diagnostic challenge with zest which can be positive however, the sudden change in the pace and increased interactions with various clinicians may make it easy for patients to feel as if they are curiosities in a museum. As a medical student, I can definitely testify to being encouraged to approach patients with rare diseases to ask them for permission to examine them for interesting signs. Although examining patients and being exposed to rare signs is an essential part of medical education, it is important to consider the impact that this constant and potentially unwanted attention has on a patient. Clinicians may also write patients off as presenting with a psychological condition when confronted with records of multiple consultations without a named diagnosis, leaving patients with a label which is hard to shake off and may also lead to actual psychological conditions being missed (3).

A multifaceted approach is required to deal with the issues associated with a prolonged diagnostic journey. In rare diseases with multisystem involvement such as BWS, the input of various health professionals such as plastic surgeons, renal physicians, oncologists, speech and language therapists and orthodontists need to be drawn upon using a multidisciplinary approach. This approach should be supplemented by the presence of a named care coordinator where possible to ensure that patients and their families are not overly burdened by managing multiple appointments alongside relaying information to various health professionals, all while trying to understand a nameless condition. 5 Having someone who is experienced in rare diseases in this role who can act as a source of reliable information and support for patients would benefit patients greatly by reducing the amount of administration needed to coordinate their care and by staving off feelings of isolation.

A culture of openness and transparency should be encouraged so clinicians can be upfront with their patients about diagnostic uncertainty. Although it might not be what the patient would like to hear at the time, being aware of the reality of the situation is preferable to the patient being in the dark about the direction of their care, allowing them to adjust their expectations accordingly. Increasing access to genetic testing and specialist services so that clinicians are able to refer their patients on with less delay will hopefully speed up diagnosis and also allow differentials to be excluded more efficiently, avoiding the descent into a diagnostic odyssey. Empowering patients who are at the centre of this issue will prove to be the most effective way to improve patients’ experience. This can be done by directing patients to the appropriate support groups where they will be able to share their journey and expertise with others who are facing similar situations. For example, SWAN UK (Syndromes Without A Name) is a support network run by the charity Genetic Alliance UK which supports a community of families of children with undiagnosed conditions by organising free events for them to socialise at and by providing information to these families 24/7. 5 Encouraging patients to participate in research is another way to empower patients – patients and their families may have different priorities with regards to research outcomes and their experiences will add great value to research regarding their condition (3).

The consequences of the ‘diagnostic odyssey’ on rare disease patients and the patient-clinician relationship should be recognised and utilised to drive a shift in how rare disease patients are cared for by healthcare professionals. Empowering patients and encouraging patient-clinician collaboration will hopefully improve patients’ experience as they undergo the process of seeking an elusive explanation for their symptoms.

1. Weksberg R, Shuman C, Beckwith J. Beckwith–Wiedemann syndrome. European Journal of Human Genetics [Internet]. 2009 [cited 15 November 2017];18(1):8-14. Available from:

2. Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: exploration of potential indicators [Internet]. London: Policy Innovation Research Unit (PIRU), Department of Health Services Research & Policy, London School of Hygiene and Tropical Medicine; 2015 [cited 15 November 2017]. Available from:

3. Muir E. The Rare Reality – an insight into the patient and family experience of rare disease [Internet]. Rare Disease UK; 2016. Available from:

4. Rare Disease Impact Report: Insights from patients and the medical community [Internet]. Shire; 2013. Available from:

5. About SWAN UK [Internet]. SWAN UK. [cited 15 November 2017]. Available from:

Take a sneaky peek at our new website

Over the past few months, the Findacure team has been very busy writing content for our new website and honing in on its design. We’re still a few weeks from it being completely finished, but for today’s blog, we wanted to give you a taste of what’s to come.


Screenshot 2018-06-21 15.54.17


We don’t want to give too much away but we hope you like the little that you see. Stay tuned for the grand launch in a few week’s time!


When does clinical effects justify the costs of a drug?

When it comes to accessing treatments for rare diseases, the barriers standing in patients’ ways can be huge. In this week’s blog, Joanna Stenderup, a Pharmacy student at the University of Copenhagen, explores the main barrier people with Cystic Fibrosis face when accessing treatment: the financial barrier. This blog was originally written for Findacure’s Student Voice Essay Competition 2017.

I remember doing an interview with a Danish patient suffering from cystic fibrosis (CF). She was telling me about a new drug she had been selected by her doctor to begin treatment with. The drug was still in a trial phase and therefore not part of the standard treatment in Denmark. I had just begun my second year as a pharmacy student, and I was fascinated by the improvement this patient told me about. She made a huge impact on me. Her lung function had increased. Her quality of life had improved. She had become more medical compliant. She suddenly experienced improvements in her everyday life compared to former medication. She was now able to spent time with her friends after school, instead of going home to take a nap. I thought that everyone suffering from CF should have a chance to be treated with this new drug.

I had more or less the same treatment for 3-4 years. I had reached a state where I thought; why should I take this medication,
if I don’t feel any improvements? That is why I got Orkambi – and I could definitely fell a huge difference. The new drug has
given me so much more energy. Increased quality of life!
” – Patient suffering from cystic fibrosis

In this essay, I consider the main barriers people with the rare disease CF, is facing when it comes to accessing treatment. The barrier I am focusing on is the financial barrier of newly developed and approved drugs on the market, especially for patients suffering from CF.

CF is the most common life-shortening inherited disease, which affects 1 in 3,500 people. It is caused by genetic mutations effecting the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein regulates the transport of sodium and chloride ions in the cell membranes. Different mutations can cause CF, but the most common one is the delta F508 mutation. Approximately 50% of the patients suffer from this particular mutation. CF patients has thick mucus in their lungs, pancreas and digestive system. This leads to chronic infections and blocking of the pancreas and digestive system, which effect the ability to produce insulin and digest food (1). Some persons with CF consume more than 50 tablets per day. They are more sensitive to infections, because of the chronic infection in their lungs. This means that they are often hospitalized and receiving even more medication such as antibiotics. They are not allow to have contact with other CF patients, due to risk of infection with different bacteria (2).

Most medication for CF only treats the symptoms of the disease. But recently two drugs was approved by the U.S. Food and Drug Administration (FDA). These two drugs acts as precision medicine, which mean they treat the cause of the disease and not just the symptoms (2).

After my interview, I dug deeper into the research of these particular drugs named Kalydeco and Orkambi. I learned that there are patients, whom these drugs may never be available to. Despite the fact that one of the drugs, approved by the FDA in 2015, have been licensed for use in some patients in the UK, the National Institute for Health and Care Excellence (NICE) rejected its use in England. This decision was based on lack of long-term evidence and cost-effectiveness. The drug was estimated to benefit almost 3000 patients suffering from CF (3).

As a pharmacy student, I am well aware of the complicated process of making a new drug available to patients. But I could not help thinking about the patients, who may never experience the potential benefits of this drug (4). I learned that the prices of these newly developed drugs are the center of a huge debate all over the world. I found several articles online stating that a barrier preventing patients from accessing treatment with this drug, was due to its expensive cost of £104,000 per patient for every year of treatment (3). In 2015, Arkansas Medicaid was sued by patients suffering from CF. They claimed the state denied using Kalydeco based on its high cost. The lawsuit ended with a settlement (5).

It is no secret that a medical company’s decision about choosing a new target can be market-driven. This is true for all other companies, whether they sell clothes, food, makeup or medicine. Large companies prefer to develop new drugs, which have huge potential markets, instead of new drugs, which is a need, but maybe only among populations and countries which are more or less unable to pay a high price. Furthermore, certain companies have a historical background for research in a specific medicinal area. The decision can also be driven by fashion, for example if several companies are doing research on the same target, due to increased literature or media coverage of a particular disease (6). The dilemma is difficult because the pharmaceutical company pays for the costs associated with development and clinical tests. It is unusual to find a person, who can afford these costs by themselves. It therefore relays on the government to decide if the patients are worth the treatment or not. But the government only has a certain amount of money – and there are more expenses than healthcare which should be covered. Since Kalydeco and Orkambi are some of the world’s most expensive drugs, it will be extremely costly to make them a part of the standard treatment in most countries (7).

Medics and researchers are trying to improve access to treatments for CF patients, by identifying patients who will benefit from the treatment with certainty (8). This is currently carried out by creating mini-organs with different types of CF mutations. The drugs are then tested in different organs, to clarify the individual effects (9). This is a really good idea, which could be implemented, not only when it comes to CF, but also a lot of different types of cancer and other diseases. The problem with expensive treatments are that they are sometimes “wasted” on patients, who do not benefit from it. But the doctors has to try it, because they do not know if it works before they have tried.

Another way to improve access to treatments for CF patients, would be if other pharmaceutical companies tried to develop a similar drug, or an entire new drug. Thereby creating competition and gradually lowering the price. This is already happening, but other companies are not allowed to developed and sell generic drugs before the patent has expired. Such drug patents can last 10-15 years, depending on which country is it issued by (10).

Since CF is a progressive incurable disease, the patients and their loved ones, hope for new drugs on the market. It must be difficult for these patients to be aware of the existence of two newly approved drugs, which may never be a part of their treatment. The life expectancy for CF patients is 42 years, so they do not have time to wait for a new drug, because the one existing might be too expensive. I cannot imagine what it would mean if the patient with CF I met no longer can be treated with Orkambi. It is difficult to talk about money when it comes to health and diseases, because who can justify if a person’s life and well-being is worth the expenses?

1. Flavell L. Cystic Fibrosis Overview2017. Available from:
2. Cystic Fibrosis Trust. What is cystic fibrosis? : Cystic Fibrosis Trust; 2017 [Available from: is cystic fibrosis.
3. Gulland A. Cystic fibrosis drug is not cost effective, says NICE. BMJ. 2016;353:i3409.
4. U. S. Food & Drug Administration. Drug Trials Snapshots: ORKAMBI [WebContent]. Center for Drug Evaluation and Research; 2017 [Available from:
5. Walker J. Arkansas Reaches Settlement in Cystic Fibrosis Drug Suit2015. Available from:
6. Heinrich M, Barnes J, Gibbons S, Williamson EM. Fundamentals of Pharmacognosy and Phytotheraphy 2ed. Great Britain: Elsevier Churchill Livingstone; 2012.
7. Werth B. A Tale of Two Drugs2013. Available from:
8. Community Register [Internet]. EU Pharmaceutical Informations. Available from:
9. Regalado A. Organoids Proposed to Screen Patients for High-Priced Drugs2017. Available from:
10. Mehta SC, Mehta SS. Strategic options for brand-name prescription drugs when patents expire. Health Mark Q. 1997;14(3):107-14.


Dinner date with the Freemasons

On Wednesday 30th May, Findacure’s fundraising officer, Katie, attended the Cambridgeshire Masonic charitable dinner to receive a certificate celebrating our grant from the Masonic Charitable Foundation.

We were thrilled to recently receive a generous £5000 donation from the Masonic Charitable Foundation and luckily I had the opportunity to thank the local Masonic community in person last week. I was invited to the Provincial Grand Lodge of Cambridgeshire on Bateman Street in Cambridge, just 10 minutes away from Findacure headquarters, for a charity presentation evening and dinner.

The Masonic community supports many causes in the area and invited those recently lucky enough to receive financial support for a celebratory presentation evening. Many great local charities were in attendance; including Cam Sight, Headway Cambridgeshire, Tom’s Trust, CPSL Mind, and Cambridgeshire Deaf Association. Over drinks and dinner, I had the opportunity to chat to both freemasons and charity representatives about their various fascinating projects and the impact their grant will have. It was wonderful to hear more about the brilliant work being done in the Cambridgeshire area and be in a room full of motivated people, passionate about making a difference in the community. After dinner, each charity was acknowledged individually and I was presented with Findacure’s formal grant certificate and felt honoured to have Findacure celebrated alongside other such worthwhile causes. Before leaving, we even got a sneak peek at the Lodge’s first floor temple room, complete with traditional black and white checkerboard carpet and ornate thrones. We learnt of the extensive symbolism as one of our hosts kindly gave a tour and allowed the more curious among us to sit in the room and quiz him on all things masonic.

It was a pleasure to meet the local Masonic community and we are exceptionally grateful for their generosity and support. Our grant will go towards funding our patient empowerment programme to directly support rare disease patients and their families. Our empowerment projects include our workshops, webinars, e-learning portal and peer mentoring scheme – all of which aim to give patient groups the tools they need to thrive. You can find out more about these projects and how to get involved here.