The London Marathon: My Story
In this weeks blog, Stuart Brien shares his story of running in the London Marathon for Findacure, on Sunday 23rd April.
Well, the day finally arrived and I was up early and ready to go. A hearty breakfast of porridge and banana, and I was on my way to Greenwich to soak up the atmosphere.
We had worked out which trains I needed to take, but I needn’t have worried, it seemed everyone was going to the same place and it was just a case of following the crowds.
Talking to other people on the way, I got the feeling that my preparation had not been as thorough or scientifically worked out as it maybe should have been, but I was still feeling pretty good.
In Greenwich Park, the atmosphere was fantastic. The sun came out and everyone was smiling and getting excited for the start. Some I spoke to were running their first marathon, but others were running it for the 10th time or more.
The starting klaxon sounded and we were on our way, well the people at the front were on their way, we walked slowly forward and 30 minutes after the Kenyans etc began we eventually crossed the start line, meaning finishing first was going to be a tough ask.
My cunning plan was to start near the 5 hour pace setter and keep him behind me all the way to the finish, what could possibly go wrong? This plan was working perfectly for the first 300m, when I felt the desperate urge to go to the loo. I got back onto the course to see the 5 hour flag disappearing into the distance.
Gradually though, I reeled him in and kept going at a steady pace and settling into a good rhythm. The miles went past slowly and running partners came and went, including the odd rhino, a giant nurse and someone carrying an ironing board on his back.
My wonderful friends and family who had come down to support me were dotted around the course and it was great to hear them calling my name and having a big sweaty hug as I went past. They also had drinks and jelly babies, which helped keep the energy levels up.
At around 18 miles, I saw a group of my “fans” and was delighted to see Findacure’s own Libbie Read. I have known Libbie since she was a baby and have never seen her without a smile on her face. Today was no different, so she was treated to a sweaty hug with the rest of them.
At 22 miles, the pain really started to kick in and I started to struggle a bit. This is when the crowd really keeps you going. Kids offering jelly babies and jaffa cakes etc, as well as shouting your name to encourage you to keep going. Looking behind me, 5 hour man was nowhere to be seen, so I started walking a bit, big mistake.
I kept trying to run again, but the message from brain to feet was lost somewhere and it was hard to keep going, was this the infamous “wall” everyone fears? If it was, then the sight of 5 hour man going past me spurred me into action and I found a burst of energy from somewhere.
The mile markers were coming very slowly now and it was a relief to get to Big Ben and turn right towards the finishing line. Then, in front of me was the 1km marker. A check of my watch confirmed I had plenty of time. Another marker came into sight, this must be the 500m marker I thought to myself, but NO!!! 800m to go, surely that can’t be possible, the markers kept appearing very slowly until I crossed the finish line, I stopped my watch and nervously checked my time.
My aim was to finish in under 5 hours. Just like Roger Bannister all those years ago, the first number was all that mattered. Unlike him, I was really hoping to see the number 4.
And there it was………………………my time did start with a number 4 and I must admit, I got a little bit emotional. 4-58-30 was my actual time and it felt great that I had won my own personal battle with the course.
I received my medal, yes there were still some left when I got there, and made my way to Admiralty Arch where I was met by my wonderful family and friends, (more sweaty hugs).
After a shower and freshen up at the hotel, it was over to the restaurant where we had a table for 20 booked. I hadn’t realised how hungry I was and it was good to have a beer and get some calories back inside me.
As I write this, the day after the run, I am feeling surprisingly good. My thighs ache a bit, but once I get going I am not walking too badly. To be honest I am feeling quite proud of myself for getting under the 5 hours and that is what the London Marathon is all about. There were runners of all shapes and sizes, running for different reasons and trying their best to get round and achieve their own personal goal.
I was really happy to run for Findacure, a great little charity run by fantastic people and I know the money we raise will make a huge difference to them. If they have a charity place on offer next year, I would urge one of you to run it on their behalf. I have decided that I am now hanging up my running shoes and handing the baton to someone else, although I have just seen that the ballot for 2018 opens on May 1st, so I may just apply and see what happens.
So all in all, a fantastic weekend, topped off by the fact that my football team, Lincoln City, ended a wonderful season with promotion back into the football league. Carlsberg don’t do weekends, but if they did…
Thanks to all friends and family, I would never have managed it without you!!
We would like to say a massive thank you to Stuart for all of his hard work and to all his friends and family who supported him. Stuart has raised just over £3,000 for Findacure and we are so grateful for his efforts. We hope everyone will join us in congratulating him on his great achievement. If you would like to donate to Stuart, you can find his fundraising page here.
In this week’s blog our Executive Director, Flóra Raffai, shares her top tips on how to give a good presentation.
Presentations at events can be one of the most effective ways for small patient groups to raise awareness of their rare disease and their work. You have an allotted time to speak to a room full of people, who usually have never heard of you. But how can you capture people’s attention away from the smartphone hidden on their lap?
This is a challenge I have faced countless times when I have presented about Findacure over the past few years, mostly to audiences unrelated to rare diseases. In this post, I would like to share my top tips to giving a good presentation.
Tailor your presentation to the topic
It is shocking how often people recycle previous presentations when they are invited to speak at an event. This is a guaranteed way to ensure the audience do not listen and to ensure you are not invited back to speak again. Instead of paying attention, people will be trying to figure out how your presentation relates to the topic on the agenda. It does take time to write a new presentation for every meeting you are invited to speak at, however, your message will be lost if it is irrelevant to the meeting.
Even if the topic you have been invited to present on is similar to a presentation you have previously given, it is worthwhile changing elements. The rare disease world is quite small, so it is quite likely several people in the audience will have attended the meeting where you last presented, meaning they will switch off the moment they realise you are giving the same presentation.
Have a good hook
A good way to keep people from reaching for their smartphones is to have an unusual hook at the start of your presentation which catches their attention. This can be a personal story illustrating the rare disease you will be discussing, an audience participation exercise, or an anecdote to which the audience can relate. By referring back to your hook at transitions in the presentation, you can draw people back in who may have started to think about checking emails.
Keep your slides light on text
It is very challenging to read and listen at the same time. Putting up slides that are a wall of text will result in the audience ignoring what you are saying and just reading the slides. Presenters also frequently fall into the trap of reading aloud their slides if there is too much text on them. This can make audiences frustrated and they stop listening, knowing they will have access to the slides after the event anyway.
Instead of lists of bullet points, try using images, graphics, and statistics related to your points. I have found changing slides every 30 to 60 seconds, with graphics that reinforce the points I am making, keeps the audience focused on the presentation, as there is not enough time for their eyes to wander.
If you are wary of removing text from your slides because you use your slides as a prompt, try writing your key points down on flashcards instead. This can be hidden from the audience on your lectern and keep you on track with the presentation, but removes the temptation to spend the presentation with your back turned to the audience, reading your slides.
Interact with the audience
The best presenters keep their audiences engaged through personal interaction. You do not need to be overly charismatic or a confident presenter to do this. Simply maintaining eye contact throughout can improve audience attention. Presentation coaches recommend scanning the room with your eyes in a ‘W’ pattern, looking at people in the back left corner, scanning forward to the front left section, scanning to the back middle, forward to the front right section, and then to the back right. This way each member of the audience feels you are speaking directly them at some point throughout the presentation.
You can also throw questions out to your audience and have them complete an exercise. You can poll the audience by getting everyone up on their feet and have them sit down when they disagree with your questions. This can be a good way to refresh people who may have been sitting still for several hours at a conference.
Keep to time
Poor time keeping is disrespectful to your audience, the meeting’s organisers, and your fellow speakers. If you have been given a set time slot, subtract at least 5 minutes to allow for questions at the end, unless you have been explicitly allotted time for questions. Write on top of your notes the time you are set to finish and have a watch nearby to remind you of the time. Practise your presentation ahead of the meeting to ensure you can keep to this. This also helps you decide on your phrasing, reducing the need for excessive notes on the day. Speakers who finish on time are remembered much more positively, even for an average presentation, compared to an excellent presentation given by someone who significantly overruns on their time.
Hopefully these tips will help you improve your presentations. But you may still be wondering how to secure a speaking slot to begin with. Unless you work at an organisation with strong brand awareness, you will need to be proactive. Whenever I attend a meeting I believe relevant to my cause, I speak with the organisers to put my name forward for future meetings. After speaking at a couple of events, you develop a reputation as a ‘speaker’ and you will start receiving invitations which you will need to filter to only dedicate your limited time to those where your presentation will have the biggest impact.
Medicine Beyond the Textbook: The challenges of being a ‘good’ patient
‘The challenges of being a ‘good’ patient’ is the fifth part of Jessica Grace’s ‘Medicine beyond the textbook’ blog series. The blog posts, released every two months, share Jessica’s stories and thoughts as both a medical student and rare disease patient.
I am ‘that’ patient. The repeat offender; the one with the condition you have never heard of and a medical history longer than your arm. Accompanying me to my appointments are two hefty files brimming with notes you’d probably rather not read. I am able to understand and use medical lingo. I’ve read all the journal articles about my condition (there aren’t many!) and I know about the latest treatments.
Yet in the past, I have tried to conform to the ideals of a ‘good’ patient. I have not voiced questions and concerns so as not to be perceived as challenging the doctor’s authority. Patients, rightly so, do not want to be saddled with labels such as ‘difficult’ or ‘non-compliant,’ which could lead to future dismissal of their symptoms. But should patients have to resort to deference to their doctor in order to be perceived as ‘good?’
Of course, some patients genuinely are difficult. There are those who are rude, disrespectful or abusive towards staff, and they, of course, should be confronted for their behaviour. But what about the patient who challenges a doctor’s dismissal of their symptoms? What about the patient who is simply well-versed in their own healthcare?
For me, there have been many cases when it has been in my best interests to not be ‘compliant.’ If I had not continued to insist that something was very wrong when I first became unwell, I never would have got a diagnosis. I would have accepted what the first doctor told me – that I just had muscle spasms, rather than a rare auto-inflammatory condition. The simple truth is, that on occasion, I have had to advocate for myself in order to receive the healthcare that I need.
I have learnt the hard way that sometimes I do have to be assertive, because when doctors have dismissed symptoms that I knew were not right, I have suffered as a consequence. At the end of the day, I am the patient and I know my own body.
The reality is that my plight cannot be accurately captured by the opinion a doctor holds of me as I sit in front of them for all of a few minutes. I do not stop being a patient the minute I walk out of their office. I live with this condition day in, day out, and have been doing so for the past 5 years. My symptoms follow me home, where I have to cope with them alongside my education, my work, my attempts to have a social life.
You see, I never chose to be a ‘difficult’ patient. Just as I did not choose to have a health condition; not least a rare one that few doctors have heard of. I would much rather keep quiet and be viewed as a ‘good’ patient, but my ability to live my life depends on the treatment I am given. Standing up for myself has therefore been born out of necessity. But should I have to choose between being a ‘difficult’ patient or continuing to suffer?
Similarly, when I ask about an experimental treatment or drug, am I being ‘demanding’ or someone who ‘knows too much,’ or does it merely illustrate how desperate I am to find a treatment that could enhance my quality of life? Is it not understandable that I would want to know if there was any treatment that might give me my life back?
It is only natural that patients who are greatly affected by symptoms or whose conditions are poorly controlled want to educate themselves. If you have a simple condition with an effective go-to treatment, there would be no need to find out everything about your condition. But for those with rarer diseases without standard treatments, it is understandable that they seek answers from others with the same condition or from the Internet. They want to stumble upon the treatment that could make their life better.
But is empowering yourself so that you can ask the right questions of your doctor not a reasonable response to having a condition that affects all aspects of your life? Why then should those who ‘know too much’ be considered ‘challenging?’ Would it not be more unusual for a patient to be completely resigned to the fact that they must suffer?
Being a ‘good’ patient should not equate to being meek and accepting of everything a doctor says, just as blindly following a doctors advice is not always in a patients best interests because doctors are not infallible.
Fundamentally, being assertive is not the same as being ‘difficult.’ In this day and age, there is no place for doctors who are domineering and paternalistic, nor those who do not like it when a patient disagrees or ask questions. Doctors should also remember that patients who they perceive as ‘difficult’ are not trying to make their job harder. They are going through some of the most challenging times they will ever face and they just want to be okay.
A patient being knowledgeable about their condition is not necessarily a bad thing. In fact, it can be a real positive, allowing for better disease management and a more collaborative approach to the doctor-patient relationship. Not only does this allow patients to bring their own personal experience of their illness to the table, but patients who are actively involved in their treatment plan typically have better outcomes.
As for me, I do not ask that my doctor knows everything, nor do I expect them to agree with everything I say. All I ask is that they hear me when I speak, that they respect my scientific knowledge, and that they are willing to inform rather than dictate treatments.
Rare epilepsy syndrome giving hope to those living with intractable epilepsy: How rare diseases are leading the way in medical research
This week’s blog, by Margarita Delgado Thompson, has been chosen from the essays submitted to our 2016 Student Voice Essay Competition. It makes a very interesting read.
Rare syndromes are leading research for chronic health conditions that impact millions of people worldwide. This paper uses the example of Dravet syndrome, a rare genetic epileptic encephalopathy, to show how research into this rare disease, may result in a novel treatment for people living with intractable epilepsy. Rare syndromes provide researchers with three qualities ideal for research: genetically mutated animal models for initial testing, clear diagnostic criteria for inclusion in a study, and motivated patients looking for a solution to devastating diseases.
Epilepsy: a need for treatment
Epilepsy is one of the most common neurological diseases, it affects over 50 million people worldwide (1). Epilepsy is defined by Fisher et.al. as a “family of disorders, having in common an abnormally increased predisposition to seizures” (2). In addition to seizures, patients with epilepsy can suffer from cognitive delays and psychosocial problems including: anxiety, depression and negative stigma (2). The primary treatment for epilepsy is antiepileptic medicines to control seizures:
“The lack of absolutes is frustrating while trying to find a solution to the seizures. Treatment revolves around experimenting with various medications and weighing results with the side effects. It can take years to find what combinations work the best.” – Dennis, father of a child living with epilepsy (D. Dickson 2016, personal communication, 2 November).
One third of patients have refractory epilepsy, which cannot be controlled by medication, these patients and their families are constantly looking for solutions.
The rare syndrome
As Fisher et.al.’s definition states, epilepsy is not a single disease, but a family of conditions; within this family are a number of rare genetic syndromes that manifest with refractory seizures and other symptoms (2). One example is Dravet syndrome, a genetic channelopathy caused by a mutation in the SCN1A gene (3). Dravet syndrome begins with febrile and afebrile clonic and tonic-clonic seizures in the first year of life (4). It develops to other types of seizures, which are usually unresponsive to treatment (3). Children with Dravet syndrome develop mental delays, cognitive impairments and personality disorders by the age of 2, there is a theory that the epileptiform abnormalities in the brain causes these cognitive impairments (3). Dravet syndrome impacts 1.4% of children with epilepsy under the age of 15 and one in 20,000-30,000 live births (3). Around 14-16 years the seizures tend to decrease, but patients need full time care for the rest of their lives and are at high risk for sudden unexpected death in epilepsy (SUDEP) as well as lethal status epilepticus (4).
Because of the gap in effective treatments for intractable epilepsy, drug companies and charities are searching for new options. One of the innovative treatments is Epidiolex, a purified plant based cannabinoid, cannabidiol (CBD), produced by GW Pharmaceutical UK (5).
Enthusiasm surrounding cannabis use for intractable epilepsy began with the case report of Charlotte Figi, diagnosed with Dravet syndrome (6). After failing antiepileptic drugs and the ketogenic diet, her mother looked into cannabis, which has historically been used as an antiepileptic (6). She worked closely with cultivators, doctors and the Colorado state legislature, and began to give her daughter extract from the marijuana plant specially cultivated to produce an oil with a high concentration of cannabidiol, a non-psychoactive compound of marijuana (6). The results of the case study surprised the epilepsy community, Charlotte had a 90% reduction in tonic-clonic seizures and her behavior and cognition improved, so that the 5 year old began to walk and talk for the first time (6). Many families have followed the Figi family and attempted to find legal sources of the plant christened “Charlotte’s Web”. The new drug Epidiolex promises a cannabidiol source, similar to Charlotte’s Web, that is controlled for potency and quality will be clinically tested for effectiveness and safety (6).
Epidiolex is currently in phase 3 of clinical testing, patients with Dravet syndrome take the drug and it is compared to patients taking the placebo (7). Epidiolex received orphan drug status from the European Medicines Agency and the US Food and Drug Administration (8). The current results from the phase three trial found that Epidiolex decreased convulsive seizures by 39% compared to the placebo, and it is generally well tolerated (8). GW Pharmaceuticals states that they are currently focusing trials on rare electroclinical syndromes, including Dravet syndrome and Lennox-Gastaut syndrome, both of which have poor prognoses for seizure control and limited treatment options; but they hope to expand to other orphan seizure disorders and ultimately to all intractable epilepsies (5). A program has already begun in the US for a compassionate use program, where children and young adults with intractable epilepsy, who do not qualify for the clinical trial, may take the medication (9).
Why research rare syndromes?
In order for new medications to be used there is a stringent series of tests, to make sure that the drug is safe and effective, this can take up to 10-15 years (10). Rare syndromes have several advantages that make them ideal to study.
Before any human testing can begin, medications are first tested on animal models, to assess efficacy, safety and toxicity (10). Because epilepsy is a family of disorders, researchers have found it difficult to create an animal model that represents all forms of epilepsy. At a conference led by the National Institute of Neurological Disorders and Stroke in 2001 the conclusion was that researchers need new in vitro and in vivo models for chronic epilepsy (11). Dravet syndrome promises a solution. Patients with Dravet syndrome have a specific defect in the SCN1A gene, this has allowed scientists to create a line of zebra fish and other animals, which have the same genetic mutation (12). Also researchers have managed to take skin cells from patients with Dravet syndrome and turn them back to pluripotent stem cells and allow them to differentiate into neurons (12). These genetic models allow drug companies to test drugs and have allowed researchers to use the neurons to investigate the mechanism that causes the brain to be prone to seizures, epileptogenesis (12).
After preclinical testing, drugs start clinical trials, phase three clinical trials use patients that are affected by the target condition to compare new treatments to a placebo (7). In order for a randomized control trial to produce statistically significant data with the lowest possible risk of confounding, researchers need a homogenous population (7). Therefore the population needs to have clear diagnostic criteria (13). Because epilepsy is so varied, getting a homogenous population is difficult; however, Dravet syndrome has a clear genetic test, which makes these patients a homogenous group.
The other goal of randomized control trials is generalizing them to a larger population (7). Because Dravet syndrome manifest with epileptic seizures like other epilepsies, researchers can do future testing to see whether a drug, which is effective for Dravet syndrome, can be generalized to other epilepsies.
Another example of this phenomenon is a specific subset of patients with Alzheimer’s disease, who develop the disease early because of a genetic mutation (14). Scientists are using these patients as models to examine how the disease advances and investigate possible treatments (14). These patients are a homogenous group that are diagnosed using a genetic test, compared to most Alzheimer’s patient who can only confirm a diagnosis post-mortem (14). The genetic test can also identify the patients early before they begin to present with symptoms, allowing researchers to study the disease development (14).
Clinical trial participants need to be invested in the research, there has to be a high rate of compliance and follow through (7, 13). The Dravet syndrome community is spurred to find a treatment by the devastating prognosis of the condition: the intractable seizures continue and children with Dravet syndrome will need full time care for the rest of their lives (4). Dravet syndrome is also life threatening, patients have a high rate of SUDEP and a risk of status epilepticus (8). In 2013 patients, family and friends raised money to fund a £22,000 research grant to look at a possible causes of SUDEP (15). The dedication to find answers encourages patients to participate and follow through with new clinical trials.
This essay shows that rare syndromes provide researchers with three qualities ideal for research: animal models for initial testing, clear diagnostic inclusion criteria, and motivated patients looking for a solution to devastating diseases.
In 1983 the US Orphan Drug Act was enacted to encourage research into diseases that had previously been ignored by pharmaceutical companies because of poor profits (16). Now, there is hope that research involving rare disease syndromes like Dravet and familial early onset Alzheimer’s will bring answers to questions about common conditions like epilepsy and Alzheimer’s.
“Epilepsy is going everyday, since [the day]… [you have] your first seizure [you think] about nothing but epilepsy every second of everyday. Epilepsy is fear for your life and the fear of SUDEP.” – Katie, patient living with intractable seizures (K. Dickson 2016, personal communication, 2 November).
Millions of people, like Katie and her father, are waiting for research to be completed on new drugs like Epidiolex, hoping that one of these drugs will be the answer and thanking the Dravet community for participating in these life-changing trials.
Thank you to my friends from the Epilepsy Foundation of Texas support group who consented to their quotes being included in this paper.
- 1. Anon. Epilepsy: Fact Sheet Geneva, Switzerland: World Health Organization; Feb. 2016 [Available from: http://www.who.int/mediacentre/factsheets/fs999/en/.
- 2. Fisher RS, van Emde Boas W, Blume W, Elger C, Genton P, Lee P, et al. Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE). Epilepsia. 2005;46(4):470-2.
- 3. Dravet C. The core Dravet syndrome phenotype. Epilepsia. 2011;52 Suppl 2:3-9.
- 4. Appleton R, Kneen R, Macleod S. Dravet Syndrome. In: Alder Hey Children’s Hospital L, and Royal Hospital for Sick Children G, editors. Leeds, UK: Epilepsy Action; 2016.
- 5. Anon. Epidiolex Cambridge, UK: G W Pharmaceuticals PLC; 2014 [Available from: http://www.gwpharm.com/Epidiolex.aspx.
- 6. Maa E, Figi P. The case for medical marijuana in epilepsy. Epilepsia. 2014;55(6):783-6.
- 7. Stanley K. Design of randomized controlled trials. Circulation. 2007;115(9):1164-9.
- 8. GW Pharmaceuticals Announces Positive Phase 3 Pivotal Study Results for Epidiolex (cannabidiol) [press release]. Cambridge, UK: GW pharmaceuticals2016.
- 9. Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, et al. Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial. Lancet Neurol. 2016;15(3):270-8.
- 10. Corr P, Williams D. The Pathway for Idea to Regulatory Approval: Examples for Drug Development (appendix E). In: Lo B, Field MJ, editors. Conflict of Interest in Medical Research, Education and Practice. Washington DC: National Academies Press (US); 2009.
- 11. Frazin N, editor Models for Epilepsy & Epileptogenesis. Curing Epilepsy: Focus on the Future; 2000: National Institute of Neurological Disorders and Stroke.
- 12. Liaison OoCaP. Curing the epilepsies: the promise of research. In: Stroke NIoNDa, editor. Bethesda, Maryland: National Institutes of Health; 2013.
- 13. Haynes RB. Clinical epidemiology : how to do clinical practice research. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2006. xv, 496 p. p.
- 14. Child D. The Truth about Dementia, presented by Angela Rippon. London: BBC; 2016. p. 59 min.
- 15. Anon. About Us- Dravet Syndrome UK Chesterfield, UK: Dravet Syndrome UK; 2013 [Available from: http://www.dravet.org.uk/what-is-dravet-syndrome/about-us/.
- 16. Orphan Drug Act of 1983. Sect. Chapter I, suchapter D (1983).
Patient Support Group - In the beginning
In this week’s blog, David Bennett – a member of our Empowerment Advisory Committee – explores the early stages involved in setting up a patient group for a rare disease. His blog includes interviews with parents who have set up groups for rare conditions affecting their child or children.
Many of you are likely to have had your world turned upside down as a result of receiving a diagnosis of a serious condition affecting you or a family member. With an increasing number of rare genetic conditions being identified, the person diagnosed is often a child.
A natural demand for parents is to understand what the diagnosis means in practical terms, which treatments are available and their likelihood of success. Particularly in the case of rare disorders, high quality authoritative guidance and information can be hard to find. Patient organisations dedicated to helping families affected by rare paediatric disorders continue to be set up. This short article is aimed at individuals and groups at an early stage in their development and is based on interviews with some remarkable people who have built effective patient societies.
Motivation to establish a support group
Motives of founders vary. The driver for Jayne Hughes, who established Amy and Friends after her daughter, Amy, was diagnosed with Cockayne syndrome is familiar: ‘with rare conditions, those affected can feel isolated, often diagnosis has been difficult and delayed. We set up Amy and Friends in 2007 to help other parents of a child with Cockayne avoid the problems we had to overcome’.
Going under the umbrella of an existing patient support group is a consideration, but often the needs of individuals with a specific condition require a dedicated group. For Diana Perry, setting up the Ectodermal Dysplasia Society was necessary because ‘the symptoms of ED are so diverse that no existing group adequately covered the range of symptoms that children with ED can display’.
Founders of patient groups approach the task with a widely different background experience and resources, so that the main hurdles they face vary. An important factor is whether the individual themself has the medical disorder as this can dictate the time and energy available. Arlene Smyth, Executive Officer of the Turner Syndrome Support Society (TSSS) whose daughter is affected by TS counsels that ‘setting up and running a society can be stressful’. In any case, ‘it’s important to form a committee at the outset, including a Chair, vice Chair, Secretary and Treasurer. Such a core management group is not only part of good practice, especially if charity status is to be sought, but, together with regional volunteers, the existence of a team helps to spread the workload’.
The goals of a group can change over time. Although initially set up with a focus on children with Cockayne syndrome, Jayne Hughes explains: ‘later it became clear that siblings of the affected child could become traumatised and their mental health frequently be affected. Of course, this phenomenon is not limited to families affected by CS’.
For members also, the needs met by a group evolve. According to Julie Atkinson, a member of the Ectodermal Dysplasia Society (ED Society),: ‘when my son, Daniel, was eventually diagnosed with ED we benefited so much from the information pack, newsletters and ability to connect with other parents. Later, advice from the ED Society, for example, on Disability Living Allowance, has been tremendously helpful’.
Deborah Mann is currently interim secretary and research co-ordinator of the Organisation for Anti-Convulsant Syndrome (OACS Charity), however, she originally joined a forerunner of OACS Charity as a member. Fetal Anti-Convulsant syndrome is a complex condition affecting children born to mothers taking anti-convulsant medications, notably sodium valproate. Deborah became more involved in the work of OACS Charity: ‘I realised that when highly motivated members come together we can achieve real empowerment. OACS Charity supports families to help them overcome difficulties that my family has faced, but we also represent our members in advising the MHRA (UK Medicines and Healthcare Regulator Agency) on the use and monitoring of sodium valproate so that a disabling medical disorder can be avoided’.
Beyond the goal of offering support to individual families, a group’s objectives can soon extend to raising awareness of the medical profession to the condition in question, notably to aid a prompt diagnosis. Although the medical community can be slow to reach a diagnosis of a rare condition, those working for the patient society should work with the healthcare professionals. Diana Perry notes that ‘it’s vital to engage constructively with specialists and show that the patient group is a partner, not an adversary. We want clinicians and nurses to direct patients to the ED Society so that we can help them access non-medical support that would improve quality of life of families affected’.
Within the overall purpose set by the group, the activities can rapidly multiply beyond any realistic capacity. Arlene Smyth’s advice is: ‘pick your battles and work with other organisations to be more effective’. To influence top level healthcare policy the TSSS works with the Genetics Alliance UK as well as relevant medical societies.
A long-term dream of support groups is the development of a new treatment for the condition or even a cure. Groups can help investigators, including those working in research-based pharmaceutical industry, with clinical trials, including the recruitment of patients, which is a common obstacle in rare disease research.
Successful founders have been able to draw upon an increasing number of sources of advice and support. For Diana Perry: ‘the ED support organisation in the US (NFED), which has been running for over 30 years, was very helpful at the outset’. In the past, making contact with families affected by a rare condition has limited the reach of a dedicated support group. When Jayne Hughes set up Amy and Friends in 2007, ‘social media as we know it today was just becoming part of our lives and this medium has been hugely helpful in communicating with families who can benefit from our support.’
The list of considerations when starting a patient support group can seem daunting:
- Defining objectives
- Registering as a charity
- Charging a subscription
- Forming a medical advisory board
- Protecting members’ personal data
On the positive side, there has never been a better time in terms of the wealth of best practice examples to follow and support organisations. Findacure has a strong commitment to empowering patient groups in a variety of ways to suit individual needs: training workshops, webinars, peer mentoring and a growing wealth of materials accessed via their online portal. In addition, many patient societies have benefited from some of the organisations listed at the end of this article.
Arlene Smyth, TSSS, speaks for many when she says that ‘it’s been hard work, but I believe we’ve made a difference to people’s lives and for that reason, if I had my life again, I wouldn’t change a thing’.
Sources of support
We would like to thank David for writing this blog. If you would like to find out more or follow-up with David, you can contact him via [email protected].