In the wake of Undiagnosed Children’s Day, which took place on Friday 27th April, guest blogger Polly Moyer has written this week’s article on the mistreatment and psychological consequences of being undiagnosed.
Many people who are still waiting for a diagnosis will have experienced misdiagnosis and mistreatment. Sometimes the mistreatment takes the form of medications given on the basis of the misdiagnoses (there’s often more than one) which could have a negative impact and potentially impede progress once an accurate diagnosis is reached. Sometimes the mistreatment is also psychological and results from some doctors assuming that normal test results mean that nothing is wrong with their patient and, therefore, dismissing the symptoms – and them. The inference (implicit or explicit) from some clinicians that the symptoms are caused by psychogenic/psychological factors is, unfortunately, still reported. In my view this does a disservice both to patients and other, more thorough and determined, doctors.
(1) Being undiagnosed is bad enough – none of us need to get funny looks from doctors, to have symptoms disregarded or to be made to feel that it is our fault that we are unwell.
I can only imagine how much psychological damage occurs for parents or carers of undiagnosed children, especially if there has been doubt over the validity of the symptoms. I am relieved that there are organisations in the UK which support families while they wait for someone with the relevant professional expertise to join their team, either by providing that elusive diagnosis or by changing the symptom management landscape – preferably both. Whilst it is well-known that ending the diagnostic odyssey does not mean that our struggles are over, it can help patients – at last – feel validated.
(2) Likewise it can empower them to access other families and individuals facing similar struggles.
Without a diagnosis it can feel that we are lost in the system, falling through the gaps and left to cope alone. Without a diagnosis it can also be challenging to get support in real life with schooling, home life and in our careers.
But the hardship of being undiagnosed doesn’t end there. Instinctively patients know that, once they are diagnosed, their data could be useful for others in a similar situation, especially if gathering and studying it could lead to the development of treatment options. Not being empowered to participate in surveys and trials that could enhance or prolong life for others means we can’t ‘pay it forwards’ and I’ve never encountered a rare conditions patient who doesn’t want to do that. Even if patients know it won’t help them, personally, the impetus to support research and development is strong and seems healthy on all levels.
So I call on all clinicians to put their assumptions about so-called ‘medically unexplained’ or ‘functional’ symptoms to one side, not let anyone become lost in the system, re-open cold cases as diagnostic testing equipment becomes more sophisticated and work with their patients and other professionals to establish a working diagnosis.
It’s said that ‘undiagnosed is a diagnosis’ but it’s not one anyone should have to live with for long. It is a no-man’s land of uncertainty and can feel like a hostile place to be.
The wider impact of a diagnostic odyssey: Vivienne’s story
Rare disease patients often face a difficult journey to diagnosis, commonly termed a ‘diagnostic odyssey’. This regularly involves moving from clinician to clinician, multiple misdiagnosis, unnecessary tests, and incorrect treatments. Arkaprabha Banerjee, medical student at the University of Cambridge, shares the wider impact of this diagnostic odyssey on a family, as well as thoughts on how this can be improved. The blog was originally written for Findacure’s Student Voice Essay Competition.
‘We were isolated. I had therapy for five years, my husband had therapy, and even our boys were seeing the psychiatrist. A section of our family rejected us.’
These were the words Vivienne* used to describe her diagnostic odyssey in seeking the correct diagnosis for her sons Antoine* and Sebastien*. Both were diagnosed with Fragile-X Syndrome, a rare genetic disorder characterised by mild to moderate intellectual disability. It took more than 10 years, a lot of heartache and a broken family for Vivienne to find the proper diagnosis for her beloved sons (Appanah, 2013).
To date, roughly 7000 distinct types of rare diseases have been identified, most of which are caused by genetic abnormalities. It is estimated that approximately 350 million people worldwide, about 5% of the world’s population, suffer from a rare disease. In certain countries, this statistic is higher; 10% of USA’s population is thought to suffer from a rare disease. Furthermore, roughly half of all rare diseases do not have a specific foundation supporting or researching into cures for the disease (Global Genes, 2015).
Statistics can give us a broad idea about the global impact of rare diseases. But to truly understand the experience of living with a rare disease, to comprehend the pain and stress of a diagnostic odyssey, I believe we must listen to the story of one who has walked every step of that long journey. Vivienne has been a part of that journey, not for herself, but for her sons. This is her story.
Antoine and Sebastien were born to Vivienne, a nurse, in 1979 and 1981 after difficult pregnancies. Sebastien was wrongly diagnosed with hydrocephalus and autism due to developmental delays. Antoine displayed normal development, but was hyperactive. When the two boys first started preschool, the teachers of the school had a meeting with Vivienne to find out what exactly happened at home to make the boys behave ‘like that’ in school. From an early stage in their lives, it was assumed that the behaviour and development of the boys was due to poor parenting. As parents, this was a stinging blow to Vivienne and her husband, Xavier – all around, people placed the ‘blame’ for the two young boys’ behaviour and development on their parents. It was a major knock to their confidence as parents, and resulted in the whole family having therapy to try to rectify the perceived problem of poor parenting. The misdiagnosis caused a lot of stress on Vivienne and Xavier’s family, and it also lead to isolation. A part of their extended family rejected them, and cut off ties with Vivienne and Xavier.
They continued for more than five years with the understanding that Sebastien and Antoine’s condition was solely the fault of Vivienne and Xavier. All the doctors, psychiatrists and other medical professionals that Vivienne approached gave her the same response – there was nothing physically abnormal with her boys, their behaviour was a result of the environment. Vivienne only found out about the possible diagnosis for her boys from the Telethon in 1987. She found similarities between her everyday life and the stories portrayed on screen. The similarities gave her a niggling feeling that something was wrong with the previous diagnoses, and she decided to follow her hunch and contact a geneticist. After numerous tests and several days spent in a hospital, Sebastien was diagnosed with Fragile-X syndrome. The news was bittersweet to Vivienne – on one hand, she had found a reason for her son’s developmental delays and behaviour, but on the other hand, she felt immeasurable guilt that she had passed on the debilitating condition to her beloved sons. The diagnosis was found in 1989, a time where very little, if anything, was known about Fragile-X Syndrome, and there was next to no support available.
Vivienne and Xavier’s journey to find proper medical care for their sons did not end there. Now began the arduous task of finding treatment for a poorly understood, rare condition, especially at a time where internet, social media and mass communications were not well developed. Vivienne and Xavier managed, however, through determination and love for their sons. Both Antoine and Sebastien now work at Special Work Centres (CAT), and Antoine uses his boundless energy in precision welding, his new passion. Vivienne and Xavier’s diagnostic odyssey with their sons, going from doctor to specialist to psychiatrist and back, challenged their faith in the medical profession. At every turn, they were rejected by medical professionals, receiving very little support. But instead of becoming bitter over their terrible and long-drawn journey, they decided to do use it as motivation to do something good – they launched the first Fragile-X patient association in France; Le Goeland. Along with putting families with Fragile-X sufferers together, Le Goeland also provides support to patients and gives pointers to newly diagnosed members on how to
manage the condition. Vivienne and Xavier were adamant that nobody should have to go through their terrible ordeal without support and help.
Vivienne’s family’s story is touching and really shows what sufferers of rare diseases go through. By many definitions, her family’s journey ended in success – Sebastien and Antoine are now both working, and Vivienne and Xavier use their contacts and knowledge of Fragile-X Syndrome to help others diagnosed with the disease. They are an incredibly strong family who were able to triumph against the circumstances, even when the entire world seemed against them. However, for many with rare diseases, the story does not have a happy ending. In fact, there have been cases where sufferers of rare disease were diagnosed post mortem. For example, in March 2010, a 23-year-old young man was misdiagnosed with myocarditis and subsequently passed on. During autopsy, it was discovered that the young man suffered from Ehlers-Danlos Syndrome (EDS) Type IV, a rare, inherited connective tissue disorder (Natalia Escribano, 2010).
The diagnostic odyssey may end with answers and a solution, as it did for Vivienne and her family, or it may end in death, as it did for the young man who suffered from EDS Type IV. The fact of the matter is that it is unacceptable that anybody suffering from a rare disease must go through so much hardship to get only a correct diagnosis, not even a cure. There are some measures which can be employed to ease the plight for sufferers of rare diseases. The first thing we can do is to create an easily accessible, international database for rare diseases. Clinicians are human, just like everybody else. It is impossible to expect them to keep track of all the signs and symptoms of rare diseases and common ones, and be able to accurately diagnose patients with rare diseases. A global database, which includes the signs and symptoms of various rare diseases would help solve this problem. Doctors could key in the signs and symptoms of patients who they are unsure about to determine the disease and cross-check other possible signs and symptoms to confirm the diagnosis. The database could also include possible treatment options, or specialised centres which are better equipped to deal with rare diseases. The idea behind the database would be to not only diagnose the rare disease accurately and rapidly, thereby reducing the length
of the diagnostic odyssey, but also pointing the patients in the direction of possible treatment options to help them manage the condition.
Along with the database, increasing awareness of rare diseases would help in reducing the feelings of isolation that patients with rare diseases feel, during the diagnostic odyssey and after. Currently, there is a global Rare Disease Day celebrated on the last day of February each year, to raise awareness among the public, policy makers, researchers and health professionals on the impact of rare diseases on the lives of the afflicted (Eurordis, 2017). By raising awareness, such events also work towards helping to raise funds for research into rare diseases, the majority of which are poorly understood. If everybody is more aware of the lives of those with rare diseases, of the diagnostic odyssey, the isolation and feelings of helplessness they experience, more people and charities will come forward to lend a helping hand, to volunteer and donate into research for these diseases.
Rare diseases, like any diseases, are a terrible thing. What makes them worse is that they are poorly understood, hard to diagnose, and often very difficult to cure. People with rare diseases thus often go on diagnostic odysseys to first get a diagnosis, and then subsequently undertake a further, sometimes longer and more difficult journey to find a cure, if one even exists. Preventing such journeys and problems may be possible with a global database for rare diseases, and by increasing awareness, which in turn will increase funding, of rare diseases. A global database will help shorten (and hopefully remove) the diagnostic odyssey, and increasing awareness and funding will hopefully lead to a cure for the rare disease.
*Names have been changed
- Appanah, N. (2013, August 13). Fragile-X syndrome: Insight from two generations. Retrieved from Eurordis: https://www.eurordis.org/content/fragile-x-syndrome-insight-twogenerations
- Eurordis. (2017). Rare Disease Day. Retrieved from Rare Disease Day: https://www.rarediseaseday.org/
- Global Genes. (2015). RARE Diseases: Facts and Statistics. Retrieved from Global Genes: https://globalgenes.org/rare-diseases-facts-statistics/
- Natalia Escribano, I. M. (2010). The role of postmortem study in the diagnosis of the cause of death in a young man: a rare case of Ehlers–Danlos syndrome type IV. BMJ Case Reports, Published online.
The Diagnostic odysseys: Undiagnosed is a diagnosis
To mark Undiagnosed Children’s Day 2018, Sue Routledge, Rita Francisco, Amanda Riggs Rackerby and Eleonora Passeri have shared their own experiences of diagnosis and misdiagnosis. Their blog is split into three sections, each written by the different contributors. We would like to thank Eleonora for curating the stories and editing the final blog, and thank everyone involved for taking the time to write their experiences for us and the rare community.
Undiagnosed, misdiagnosed, underdiagnosed: So, what can we do? by Amanda Riggs Rackerby and Eleonora Passeri.
My journey on awareness started when I looked into the blue eyes of a young girl. She looked like an angel with her curly blond hair. This young angel had struggled against an “unknown devil.” Her parents knew the name of her illness, their diagnostic odyssey was over. They were one of the “lucky” ones. As a scientist, when I was still working in the lab and dealing with biological samples of unidentified “subjects,” classified as having X or Y disorder, I never thought about being undiagnosed. A few years passed and my career then took a different path and I forgot about these undiagnosed patients. Then a mom reminded me of the existence of “In-Limbo-Patients.” Many people and their families perpetually continue their diagnostic odyssey. I used to believe that getting a diagnosis would then lead to a cure. I was young and very optimistic. From talking with patients and their mothers here are some things I have since learned:
1. Undiagnosed: 1 in 20 patients are defined as undiagnosed and only 1 in 3 get a diagnosis after a genetic test.
2. Misdiagnosed: Misdiagnosed means that some patients get the wrong diagnosis. Time is precious when you are sick, so a misdiagnosis can have severe consequences for patients and families.
3. Underdiagnosed: Underdiagnosis happens when a person knows something is wrong, but it cannot be named. Giving a name to a disease is crucial because you need to know what you are fighting against in order to win.
I would like to see science help these patients, so what can we do? The first step is talking with them, they are the experts by experience, and they know the disease better than anyone else because they live with it 24/7. Researchers, medical doctors, and healthcare professionals should take into consideration what the patients are saying rather than assuming nothing is wrong with a patient just because the problem cannot be seen. Trust is integral in these cases. I introduce to you below mothers and patients who are still searching for a diagnosis. Today I challenge scientists to take a radical step and use a bottom-up approach by embracing these patients and mothers of patients. Start talking to them and listening with serious consideration. If this approach leads to faster diagnosis and more effective therapies then how can this approach be ignored?
The misdiagnosed Pitt-Hopkins army by Sue Routledge.
40% of rare disease patients are misdiagnosed at least once. For someone with a rare disease the mean average length of time from symptom onset to an accurate diagnosis is 4.8 years (from Shire report).
Parents need the correct diagnosis for their child. Often there is no treatment but with an accurate diagnosis they can look for support groups and organizations that can help. They can learn about what is common in others with the same condition and solutions others have found which might help their child too. They may learn the possibilities of having another child with the same condition and can make an informed choice to have another child. Pitt Hopkins UK, a registered charity, hopes to raise awareness of Pitt-Hopkins syndrome among medical professionals so more children will receive the correct diagnosis.
My son was diagnosed with Pitt-Hopkins syndrome when he was almost 16. He was tested for a few syndromes but he was tested for one syndrome 4 times. 4 different doctors had tested him for Angelman syndrome, eventually concluding that he probably had a variation that could not be found by tests 20 years ago. We didn’t accept the diagnosis as we were convinced it was not correct.
Pitt-Hopkins syndrome is an ultra-rare neurodevelopmental syndrome. It is a differential diagnosis for both Rett and Angelman syndrome, which are both rare but not as rare!
A poll of the Pitt Hopkins UK group last year showed that out of 41 families replying, 33 had been tested for Angelman syndrome before receiving their Pitt-Hopkins syndrome diagnosis. A recent poll of the UK and international group found that out of 60 that responded 39 were tested for AS with 6 receiving a clinical diagnosis and 32 had been tested for Rett syndrome with 6 receiving a clinical diagnosis! Of course, these children are in families that now know their child was misdiagnosed. We don’t know how many are out there are still misdiagnosed!
The winding road to a Congenital Disorders of Glycosylation (CDG) diagnosis by Rita Francisco.
(256 w) CDG are a family of rare metabolic diseases with over 130 different types. As the name suggest, these conditions are caused by defects in the machinery that assembles, processes and attaches sugars to proteins and fats, converting them into glycoproteins and glycolipids, respectively. Approximately 50% of all of our bodies’ proteins are glycoproteins, they are present and play various roles in all of our organs: This explains why most CDG types and patients have complex, multi-organ clinical presentations. I have just been sharing the basics about CDG, but you can already see that this story has all the ingredients to make diagnosis difficult, confusing and full of setbacks – both for families and professionals! But, what I haven’t told you yet is that, as it happens for many rare diseases, doctors don’t often think “Oh, we should test for CDG!”. So, lack of awareness should be added to the top of the list of ingredients contributing to the underdiagnosis and misdiagnosis of these conditions.
There are 3 main tests – divided into 3 main stages – that can help diagnose CDG:
1. Screening: Transferrin isoelectric focusing – despite its long, complicated name it basically involves getting a blood sample and running a fairly simple assay;
2. Gathering proof: Protein/metabolite-based assay – to measure their activity/presence/amount;
3. Confirmation: Genetic tests.
This is my appeal to you: “Thinking it is metabolic? Think it could be CDG!” and run some tests. We might all be surprised by the number of medical mysteries we end up solving and the lives we give direction to.
Prader-Willi Syndrome: My experience as a carer, a geneticist and a medical student
This week’s blog has been written by Andrew Strong, a 5th year medical student at Newcastle University. In his blog, Andrew explores the barriers preventing rare disease patients from accessing treatments, and how medics and researchers can improve access to treatments and trials in the future, with specific reference to Prader-Willi syndrome. His blog was originally written for Findacure’s Student Voice Essay Competition.
The majority of rare diseases do not have a licensed treatment.
There are an estimated 7000 rare diseases, which all have significant barriers to treatment, but one remains close to my heart. I first met Jacob in 2012 as a support worker for children with learning difficulties. He was a pleasant young man of 16 and we immediately got on well. After taking him for his favourite activity of swimming I met his mother, Abigail, a wonderful and friendly lady who makes every effort to help Jacob receive the best treatment possible and live a good life. I then learnt that Jacob suffered from Prader-Willi syndrome (PWS). As a genetics student, this was particularly interesting to me as we had only recently learnt about this as an imprinting disorder.
It dawned on me that this was a rare disease that many doctors will never come across. Years later as a medical student, it would be described by other students as “the one where you can’t stop eating and get really fat”. This is in direct contrast with Jacob who, thanks to Abigail’s keen and educated care and diet management, was a slim young adult of normal weight. I took Jacob for outreach approximately once a week for a two year period and spent more time building a relationship with him than I will any patient as a doctor. The last time I saw Jacob, we watched the final Hobbit film. I had finished my Genetics degree and left the job to focus on studying postgraduate medicine, but it was a pleasure to go out with Jacob, in his words, “not as a carer, but as a friend.”
3 years on, as a final year medical student, I sent my wishes to Jacob and Abigail and asked about their thoughts and feelings regarding the treatment of his PWS, to get a real and personal understanding of the barriers and difficulties they face. The issues highlighted also broadly apply to the treatment of rare diseases in general.
Names and some details have been anonymised to protect patient confidentiality. I also contacted the Prader-Willi Syndrome association (PWSA) for their comments.
Background to PWS
Prader-Willi Syndrome is a rare genetic disorder affecting one in 8,000 – 20,000 births. It is ultimately caused by a lack of expression of paternally expressed genes in the 15q11-13 chromosomal region. One or more genes can be affected and this can occur by a mixture of aetiologies. There is marked clinical variability but babies are floppy at birth with a poor suckling reflex. There is global developmental delay, cognitive disability, short stature and excessive appetite that can lead to obesity. Treatment is not curative and involves interventions such as growth hormone treatment, food supervision and surgery for scoliosis and undescended testes.
Jacob was diagnosed within 4 weeks of his birth, which according to the PWSA is fairly typical, except in cases with mild symptoms, due the accuracy of diagnostic testing. However the barrier they described was the way in which a diagnosis and information was given. It is felt that the diagnosis is rarely given well as the rarity of the disease means a clinician will often simply be repeating information that has been quickly ‘googled’ five minutes prior. Signposting to relevant charities does not occur routinely and in rare cases a diagnosis has even been given over the phone by the genetics laboratory.
Abigail described the news of Jacob’s diagnosis as devastating, coming after an extremely stressful period of difficult feeding leading to nasogastric intubation and failure to thrive. If a diagnosis is mishandled, parents can feel isolated and confused due to uncertainty or misinformation. To overcome all these early barriers, parents must be given accurate and up-to-date information that empowers them and enables them to understand what prognosis and treatment they should expect. They need to be made aware of the charities like PWSA, which provide a sense of community, ongoing support in highly specialised issues, and up-to-date information.
In addition to a poorly managed diagnosis, the rarity of PWS can lead to clinical care that is not standard practice. There can be a lack of co-ordination and coherence in management due to limited literature on PWS. For example, most children with PWS are treated with growth hormone from approximately one year of age, but some parents in PWSA report their endocrinologist not mentioning or suggesting this treatment. Furthermore, even if a doctor has other patients with PWS, they may not appreciate the marked clinical variability of the syndrome and the need to tailor treatment to individual patient needs. To support NICE guidance and overcome these obstacles, PWSA are producing a Care Pathway to aid endocrinologists as to the best practice and they hope for this to eventually be accepted by NICE.
An effective way to deal with these issues is through specific multidisciplinary clinics, of which there are four for PWS patients in the UK. These are advantageous because endocrinologists, dieticians and community support staff with experience in PWS work in tandem to provide co-ordinated patient care.
Jacob was not one of the children fortunate enough to be born close to one of these multi-disciplinary clinics, and so effectively lost this ‘postcode lottery’. Although Abigail, as a parent, has been remarkably successful in managing Jacob’s weight to an ideal standard, she has not received the support for this that she would receive elsewhere. Abigail became frustrated with the endocrinology team when conflicting messages were given at different times and the outcome of an appointment would depend very much on the consultant she saw. This could be overcome by opening more multidisciplinary centres for PWS.
A lot of these conflicts came around the time of Jacob’s transition to adulthood. This is an issue for childhood diseases in general but particularly in rare diseases and those that cause intellectual disability. Paediatric clinics are more supportive and holistic in their care of patients and there can be a sudden shift into limited adult care. Abigail described how in Jacob’s childhood, consults with the endocrinology team felt ‘nurturing’ and that there was a sense of continuity because Jacob always saw the same consultant. Even with the issues previously described, the staff knew Jacob and his personal problems and could discuss and address them. However, since he turned 18, Jacob’s care seems less ‘joined up’ and the nurturing element has disappeared due to unknown medical staff and a different style of care. Abigail and Jacob find that they are repeating themselves to a new medical professional on a regular basis.
Furthermore, when Jacob turned 18 he was taken off growth hormone but he started to experience major fatigue and a worsening of symptoms. Abigail asked for Jacob to be restarted on treatment. One team member was supportive of this but another member was opposed. She was frustrated and confused by this and eventually wrote a letter asking for a trial of growth hormones and quoting NICE guidelines to the team. In the appointment following the letter, Abigail felt ‘demonised’ for asking for the treatment and thought that some people would be intimidated by the ‘us versus them’ situation. After this, growth hormone was reintroduced and Jacob’s symptoms appear to be improving.
In rare diseases in particular there is often the phenomenon of the expert patients where people have the knowledge and skills to play a pivotal role in their own management[11,12]. It is obvious that a confrontational approach, perceived or otherwise, is not conducive to facilitating this process. Clinical staff should be empathetic and open to suggestions or requests, and sensitively articulate any reasoning for not doing so. A situation should not occur in which a parent needs to study and present NICE guidelines to clinical staff!
In summary, I have been gifted with the opportunity to see Jacob in the context of being a support worker, a genetics student and finally a medical student. He lives a happy and fulfilled life with great family support and care from the NHS. However, he and other PWS patients face several barriers to treatments. In particular these are: poorly explained diagnoses and patient information, lack of access to specific multidisciplinary care and a difficult transition to adult care. However, we are already starting to see solutions to these barriers, for example through more multidisciplinary clinics, dedicated charity support and awareness from clinical staff of the difficult transition to adulthood. Through patients, their families, charities and clinical staff working together in unison, we can break through these barriers and continue to improve the lives of patients with PWS like Jacob.
I would like to thank Findacure, Jacob and Abigail, and PWSA for the invaluable experience and information that I have received. These lessons will stay with me as I embark on my clinical career.
1. National Center for Advancing Translational Sciences. FAQs About Rare Diseases. [Updated 2016 Aug 11; cited 2017 Nov 12]. Available from:
2. Prader-Willi Syndrome Association UK. PWSA UK.[Updated 2017; cited 2017 Nov 12]. Available from: https://www.pwsa.co.uk/pwsa-uk/
3. Butler, M., M. Hanchett Md, J., and Thompson, T. (2006) Clinical Findings and Natural History of Prader-Willi Syndrome
4. Angulo, M. A., Butler, M. G., and Cataletto, M. E. (2015) Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 38, 1249-1263
5. Gunay-Aygun, M., Schwartz, S., Heeger, S., Riordan, M. A., and Cassidy, S. B. (2001) The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria. Pediatrics 108, e92
6. Prader-Willi Syndrome Association UK. Personal communications. Available on request.
7. Elena, G., Bruna, C., Benedetta, M., Stefania, D. C., and Giuseppe, C. (2012) Prader-Willi Syndrome: Clinical Aspects. Journal of Obesity 2012, 473941
8. Smith, C., Kanumakala, S., and Livesey, A. (2011) Monitoring progress in a multi disciplinary team prader willi syndrome (PWS) clinic – all is not always what it seems. Archives of Disease in Childhood 96, A30
9. Schrander-Stumpel, C. T. R. M., Sinnema, M., van den Hout, L., Maaskant, M. A., van Schrojenstein Lantman-de Valk, H. M. J., Wagemans, A., Schrander, J. J. P., and Curfs, L. M. G. (2007) Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader–Willi syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 145C, 241-247
10. National Institute for Health and Care Excellence (2010). Human growth hormone (somatropin) for the treatment of growth failure in children. NICE Technology Appraisal Guidance (TA188)
11. Department of Health. The expert patient: a new approach to chronic disease management in the 21st century. London: Stationery Office, 2001
12. Budych, K., Helms, T. M., and Schultz, C. (2012) How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy 105, 154-164
Developing your online communications
Good online communications are very important when it comes to rare disease patient groups. Being online gives newly diagnosed patients a way to find you and benefit from the services, information and support you offer. It can also allow you to build a community of patients, who might otherwise struggle to meet in-person due to disability or geographical distance, and to professionalise your organisation, which is crucial for fundraising.
With this in mind, Findacure’s first workshop of 2018 focussed on some key areas rare disease patient groups might struggle with when it comes to online communications. The workshop was held on Wednesday 28th March in London. Today’s blog gives a summary of the excellent talks given by our speakers, and links to recordings of their presentations if you are interested in finding out more.
Online communications: tools and tips
Libbie Read, Projects and Communications Officer at Findacure
First up was Findacure’s very own Libbie Read, who gave an overview of the communication tools patient groups can use to achieve their online goals, as well as some tips for using them. Starting with social media, she introduced the audience and purposes of Facebook, Twitter and Instagram, as well as the disadvantages of using these platforms. She also shared tools you can use to get to know your own social media audiences, such as the analytical tool Followerwonk (free for Twitter), and ways to schedule posts and streamline external content, such as Hootsuite (free for limited use).
Moving onto websites, Libbie mentioned some platforms patient groups can use to cheaply and easily create a new site, such as the visual builder Wix (free for limited use), as well as analysing the use of your website through Google Analytics to ensure search engine optimisation (SEO). She finished up with e-newsletters, introducing Mailchimp as Findacure’s favourite tool for delivering content straight into subscribers’ inboxes.
To find out more about the tools and Libbie’s tips, view her presentation here.
Believe in your brand: Be bold and on purpose
Andy Milligan, Co-Founder of the Caffeine Partnership and Trustee of Findacure
Next to the screen was Andy Milligan, who stressed the importance of going back to your purpose (why you exist as an organisation) when you communicate, particularly when it’s for fundraising. By making your purpose as powerful and ambitious as you can (even to the point where it borders on the impossible), and then using it as part of your messaging (such as in your strapline), you will give yourselves, your staff, your volunteers and your donors a sense of ongoing mission. It gives them something to contribute to, a change they can help to make happen, and a sense of their own purpose.
To give some examples, rather than saying you are researching a disease, you can say that you want to eradicate the disease or end the fight against that disease. Rather than saying you help patients, you can say that you want to transform the lives of patients, or that everyone deserves to live a pain-free life. This emotive language grabs both the head and heart, and because ‘eradicating’, ‘ending’ and ‘transforming’ are very hard to achieve, it gives the sense of ongoing mission that will engage people in your brand.
Andy also introduced his golden rule: you should focus on the most powerful thing you do. What are you best able to talk about, what do you love doing, and what will people most likely give money for? The one thing you do that best meets these three questions should be the focus of your messaging, and then the organisation will grow as a whole.
Managing online communities
Nicola Miller, Co-Founder of Teddington Trust and Co-Founder of Rare Revolution Magazine
When it comes to managing online communities of patients, Nicola Miller has a wealth of experience to learn from. Nicola runs two online communities: the first for the Teddington Trust, a patient group for patients and families living with xeroderma pigmentosum, and the second called Rare Revolutionaries, a community for all rare disease patients regardless of their condition.
Nicola talked us through some key things to think about when you’re setting up an online community for patients. The first is why? What value will a community bring, what gap is it filling, will it add anything new? There’s no point doing it for the sake of doing it or to replicate an existing forum. The second is who? Which part of your community do you want to reach? Will you allow scientists and researchers in, or keep it to patients and families? And the third is where? Which platform will you use to host your forum? How easy is it for people to access and use this forum?
Nicola stressed that you cannot underestimate the time it takes to nurture and maintain a vibrant and relevant community, and that moderation is key. You have to make sure your community is true to its purpose and it doesn’t let people who aren’t supposed to be in the community slip through, as you will break the trust of existing members. She also stressed that you don’t own the group, but that you must take really seriously the responsibility to look after the people in the group and protect the information they share.
To find out more about how she manages her communities, watch Nicola’s presentation here.
General Data Protection Regulation 2018: PWSA UK’s plan
Susan Passmore, Prader-Willi Syndrome Association UK
The General Data Protection Regulation (GDPR) is coming to our doors on 25th May 2018. While it is an EU Regulation, it will become part of British Law, and it will not be changed by Brexit. Patient groups must prepare for it now – but how do you actually go about it? Susan Passmore introduced us to the GDPR guidelines and the plans PWSA UK have put into place to ensure they abide by it.
While Susan stresses she is not a GDPR expert, she gave an excellent and informative presentation on the key terms, the eight principles of data processing, the rights of the individual, legitimate interest, and much more. It is well worth a watch for anyone concerned about the new regulation.
Watch Susan’s presentation here to find out more.
We would like to say a huge thank you to everyone who came along to our workshop for engaging so well in the topic, and of course to our speakers for their excellent presentations. We would like to extend this thanks to our funder Novartis for providing financial support for our workshop programme. This event has been solely organised by Findacure and our funder has not determined the content.