Experiences of Rare Diseases: An Insight from Patients and Families
Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk
By Lauren Limb, Stephen Nutt and Alev Sen - December 2010
Web and press design www.raredisease.org.uk WordsAndPeople.com About Rare Disease UK
Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in rare diseases.
RDUK was established by Genetic RDUK is campaigning for a Alliance UK, the national charity strategy for integrated service of over 130 patient organisations delivery for rare diseases. This supporting all those affected by would coordinate: genetic conditions, in conjunction with other key stakeholders || Research in November 2008 following the European Commission’s || Prevention and diagnosis Communication on Rare Diseases: || Treatment and care Europe’s Challenges. || Information Subsequently RDUK successfully || Commissioning and planning campaigned for the adoption of the Council of the European into one cohesive strategy for all Union’s Recommendation on patients affected by rare disease in an action in the field of rare the UK. As well as securing better diseases. The Recommendation outcomes for patients, a strategy was adopted unanimously by each would enable the most effective Member State of the EU (including use of NHS resources. the UK) in June 2009. The Recommendation calls on Member States to adopt plans or strategies for rare diseases by 2013. Contents Chair’s Foreword ...... 2
Introduction ...... 3
Summary of Key Findings...... 4
Research...... 5 Carl Tilson’s story...... 7
Diagnosis...... 8 Jayne Hughes’ story...... 12 Anna Pickering’s story...... 13 Jo Grey’s story...... 14
Patient Care, Information and Support...... 15 Anne Begg MP’s story...... 18 Rhya Homewood’s story...... 19 Fiona Fisher’s story...... 20
Coordination of Care...... 21 Kay Parkinson’s story...... 25 Craig and Gemma Mitchell’s story...... 26 Toby Mildon’s story...... 27 Charles and Miranda’s story...... 28
Access to treatment...... 29 Gillian Thomas’ story...... 31
Annex 1: List of conditions represented in the survey...... 32 Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 1 Chair’s Foreword
Advances in scientific research over the last two decades have highlighted the emerging possibility of addressing the needs of patients and families with rare genetic disorders in ways that would have been dismissed as science fiction only a few years ago. This gives rise to great optimism about the future. However, future possibilities must not blind us to the situation of patients and families struggling with the daily reality of life with a rare disease today.
This survey, reporting the The evidence reported in the experiences of nearly 600 pages that follow highlight families with rare diseases across the need to act now to bring the UK, is one of the largest services and support together that has ever been carried out. in a strategic, coherent plan to The picture it paints is a bleak utilise knowledge and resources one, with significant numbers effectively and in so doing, reporting delays in diagnosis. produce the best possible benefits Wrong diagnoses are common for patients and families given (sometimes happening two, three current scientific understanding of or more times). Access to specialist good clinical practice, delivered in knowledge and expertise is too a timely, user-friendly way. often fraught with difficulties and unnecessary institutional obstacles get in the way for patients and families seeking the help and support they need and should be able to expect.
Alastair Kent Chair of Rare Disease UK Director of Genetic Alliance UK Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
2 | Rare Disease UK (RDUK) Introduction Over the summer of 2010, Rare Disease UK (RDUK) carried out a survey of patients and families affected by rare diseases. The aim of this survey was to find out more about the experiences of people living with a rare condition in the UK, and to identify some of the common issues and problems they frequently face.
At RDUK, we are too Of the 570 valid responses, 47% in Wales and 3% in Northern often told of the were from the patient themselves, Ireland. The remaining 1% of 49% were from a carer or family responses were patients living in difficulties patients with member of someone with a the Channel Islands. This is broadly rare diseases experience rare disease, and the remaining representative of the population in getting a diagnosis and 4% were from other interested of the UK as a whole and as such accessing appropriate parties which included healthcare demonstrates that we are able services, information professionals responding on to suggest that our findings are behalf of a patient, and carriers of a good representation of the and support throughout a rare disease. general situation in the UK. the progression of their condition. We A total of 119 different rare The results support the need for a therefore felt that it was conditions are represented in national strategy for rare diseases important to conduct a the survey. A full list of these in the UK and complements conditions can be seen in Annex RDUK’s work in investigating survey to gain a better 1. These conditions ranged from what should form the basis of understanding of these ultra-rare to the more “common” a strategy. We believe that a issues and to better rare diseases and included national strategy would reduce understand the scale of chromosomal, single gene, the fragmentation of services the problem. multifactorial and non-genetic and ensure that patients of rare conditions, as well as undiagnosed conditions are able to access The survey covered multiple conditions, “The survey also equitable, high and patients quality care, aspects of rare diseases which highlights inequalities in our members have informed us who suffered information and they experience problems with from multiple the services received by support in a timely different rare manner, whilst including, diagnosis, coordination patients with different of care, awareness and diseases. Despite at the same time participation in research, access the wide rare diseases and even making a more variation in efficient use of NHS to drugs and services, and access between those affected to thorough, reliable information the symptoms, resources. and support. prognoses by the same rare disease and medical Throughout this in different parts of the The online survey was sent out to needs of these publication we all of RDUK’s members, including conditions, the country” have included case patient organisations, many of survey indicated studies of a number which forwarded it to their own commonalities in experiences in of patients or families affected by members. Paper copies were regards to their care, information rare diseases to provide detail on available for those who requested and support. The survey also their experiences and to put some them. highlights inequalities in the of the findings of this report in services received by patients with context. We were delighted to receive different rare diseases and even a total of 597 responses to our between those affected by the RDUK would like to thank survey. Of these, 27 responses had same rare disease in different everyone who took the time to to be discounted as they came parts of the country. respond to our survey, as well as from patients or families living the patients and families who are outside the UK. 78% of respondents live in featured as case studies. England, 12% in Scotland, 6% Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 3 Summary of Key Findings
Research Patient Care, Coordination 1. Patients and families generally Information and of Care show an appreciation of the Support 1. The majority of patients’ care importance of research and a 1. Patients and families are is poorly coordinated. willingness to be involved in not provided with enough 2. Patients have to attend research. information on all aspects of multiple clinics for different 2. Patients are not well informed their condition, both at first aspects of their condition, of research into their diagnosis and subsequently. often at a long distance from condition. This can result in 2. Information to patients and where they live. low patient participation in families must be provided 3. The majority of patients do research projects. in a range of formats and at not have access to a specialist 3. Patient organisations act as a various levels of medical and centre for their condition. vital source of information on scientific detail to ensure full 4. Patients frequently experience research into rare diseases. understanding and informed problems with medical, decision making. psychological, financial, social Diagnosis 3. Patient organisations are and other issues at transition 1. Patients and families affected often the main or only source periods. by rare diseases wait far too of information for rare disease long for a correct diagnosis. patients. Access to 2. A worrying number of people 4. There is a lack of support for Treatment with rare diseases receive rare disease patients with 1. Trying to obtain medicines incorrect diagnoses before their medical and non-medical can be distressing for some their final diagnosis is made. issues. patients and families. 3. Patients and families worry 2. There is no licensed treatment about the level of awareness available for most patients of rare diseases among with rare diseases. healthcare professionals. 3. Some patients are informed 4. Patient organisations play an of off-label or unlicensed important role in the diagnosis medicines but often patients of rare diseases and families have to inform 5. The experiences of patients their doctor and families of diagnosis can 4. Patients and families vary greatly raising concerns experience inconsistencies in about equality of access and access to medicines. fair treatment in different parts of the country. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
4 | Rare Disease UK (RDUK) Research Key Findings 1. Patients and families generally show an appreciation of the importance of research and a willingness to be involved in research. 2. Patients are not well informed of research into their condition. This can result in low patient participation in research projects. 3. Patient organisations act as a vital source of information on research into rare diseases.
Research into rare diseases is vital Involvement in research need to enable the development of new not be an onerous burden for “We only find out because we are a therapies, diagnostic tests and patients; joining a registry, for member of a charity that funds research. preventative measures for patients example, generally requires little If we were not a member of this we affected by these conditions. effort on behalf of the patient. However there are often obstacles But patients need to know of the wouldn’t know about trials etc.” that hinder research into rare existence of research projects so Relative of a patient diseases, including the reluctance that they can participate and the with cerebellar ataxia of funders to support these tools can then be used to their projects, the lack of a network to full potential, which is especially aid research, and the low numbers crucial for some rare diseases “Clinical trials? What clinical trials? of available patients for trials due with small patient numbers. Diagnosis and treatment is just try and to the rarity of these diseases. These figures show that the large majority of patients support the see!!” use of registries and indicate that Mother of a child most would be willing to join one who died from Patient if it existed and they were made haemophagocytic Participation aware of it. lymphohistiocytosis Key Finding 1: Patients “I always try to keep up to date with my and families generally “We found out about the clinical trials condition online I am always researching show an appreciation ourselves after the death via the internet, but would love further involvement into of the importance [the] trial was being run in [the] hospital of research and a research.” [where our son was being treated] but willingness to be Patient with Ollier’s disease/Maffucci they didn’t tell us about it.” involved in research. syndrome Relative of patient (deceased) who had Our survey showed that only haemophagocytic 25% of patients or families were lymphohistiocytosis aware of a registry 1. for their condition. Of those that did know Awareness and that one existed, 67% had joined the relevant registry. This figure Information may actually be as high as 85%, as Key Finding 2: Patients a further 18% were unsure as to are not well informed whether they had joined it or not. of research into their Of those that did not know of a condition. 1. A registry was defined in the RDUK registry for their condition, only patient survey as a database that collects Only one third (35%) of clinical information from all patients with a 2% said they would not welcome particular condition (or type of condition). the creation of one. respondents said that they are 2. informed of clinical trials into 2. Clinical trials were defined in the patient These figures suggest that if made their condition. survey as a particular type of research that aware of ways in which to aid tests a new treatment or medical device on a large number of participants to research, patients are generally determine its safety and effectiveness. very willing to participate. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 5 57% of respondents said that the Research represents hope for patient had not participated in many patients and families, if “I only feel I get up to date information any research into the condition. not for themselves, then the because of my involvement with a patient Of those that had taken part hope that the disease may be group, otherwise, I would not hear about in research, biobanking and cured or prevented in future. any ongoing research.” participation in clinical trials Patients and families need to be Patient, acute were the most common ways in kept up to date on research into intermittent porphyria which they had been involved. their condition so that they are Respondents also said they empowered with information had filled out research surveys, on potential new therapies that undergone brain scans, been they can then discuss with their “The only information about research an aid for medical training, specialists. They also need to be and trials that I have gained is through taken part in behaviour and aware of research which may be the Myasthenia Gravis Association UK, observational studies and relevant for them to participate undergone genetic testing in aid in - if they don’t know it exists, which I only found out about by accident of research into rare diseases. they can’t take part. when my researching my condition myself on the internet.” We speculate that participation in Key Finding 3: Patient Patient, ocular clinical trials and other research organisations act myasthenia gravis is lower than desired due to the lack of information available. The as a vital source of results suggest that if patients information on research were made more aware of into rare diseases. “We recently started a children’s branch relevant research projects being of the MGA [Myasthenia Gravis planned or carried out they may Many respondents told us about Association] - we held a weekend in June be more willing to participate in the role of patient organisations them. in informing them of research and invited two of the research teams into their conditions. Often we to update us on their research. It was were told that this is the only way absolutely fascinating/wonderful to hear “I would be very willing to participate in in which patients get any news about their work and how it affected our trials or research.” on research, and that if it wasn’t Patient with Langerhan’s for patient organisations, they children.” cell histiocytosis wouldn’t hear anything at all Parent of child with about research being conducted. congenital myasthenic Many others responded that syndrome they are reliant on searching “[I] would be willing to provide the internet for information on information to aid research.” research. This highlights the need “Patient support groups are an ideal Patient with for more active communication vehicle for the publication of trials but hypopituitarism about research projects. it is extremely rare that information is received from healthcare professionals or Less than a quarter of respondents pharma industry.” feel they are given enough information on clinical trials (24%) Relative/carer of a person with Gorlin and only one third feel they are syndrome given enough information on research in general (33%). Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
6 | Rare Disease UK (RDUK) Carl Tilson’s story Carl Tilson who has Duchenne muscular dystrophy - Manchester, England
I have been living with Duchenne Since I first went muscular dystrophy for 23 years to Newcastle having been diagnosed at 5 years where there is a old. To start with the local doctor multidisciplinary suggested my mum was an over- team, I have anxious mother having seen me benefited quite fall. My muscle biopsy proved he hugely by receiving was wrong. an annual check-up, learning about the Having this condition sometimes things available and feels like I have been sentenced talking to Professor to a life of misery only to die, Kate Bushby however I enjoy my life through who helped me campaigning for my cause, which understand about is sometimes as demanding using steroids which mentally as it is physically. quite frankly saved Sometimes I think it would be my life. I do feel though that Carl Tilson good to receive emotional support updates on current trials are not and advice on benefits, leisure widely available which leaves me activities and perhaps even dating. and my family feeling isolated with frustration. I have found that the lack of a multi-disciplined team of Also, the problem is that “I have found specialists in each region is companies behind getting these impacting on the lives of young treatments are mainly private with that the lack children and young adults every no government body overseeing day. I have experienced having their process, so things can be of a multi- to fight for everything from long-winded and delays can equipment to medicine. You are happen! Muscle wasting won’t disciplined team made to change from children wait, it’ll keep eating away, so services into adult services at 18 living with Duchenne time is not of specialists in years old and immediately you on our side and any time wasted find out you’re now left with no or delays can be fatal for us. each region is direction, and left to your own devices with no specialist support, Carl is actively involved in impacting on the for example, adult services don’t Action Duchenne: continue checking your heart and www.actionduchenne.org lives of young breathing function until you ask for it. Another experience, which children and does leave a bitter taste, was once I became quite poorly with a young adults really bad chest infection and had to stay in hospital with a weak every day” immune system and I was put into a ward with mostly old men with bad coughs and chest problems. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 7 Diagnosis
Key Findings 1. Patients and families affected by rare diseases wait far too long for a correct diagnosis. 2. A worrying number of people with rare diseases receive incorrect diagnoses before their final diagnosis is made. 3. Patients and families worry about the level of awareness of rare diseases among healthcare professionals. 4. Patient organisations play an important role in the diagnosis of rare diseases 5. The experiences of patients and families of diagnosis can vary greatly raising concerns about equality of access and fair treatment in different parts of the country.
Timely prevention and Our research shows that patients diagnosis of rare diseases is and families affected by rare essential. Without accurate diseases in the UK often face diagnosis, appropriate screening significant hurdles in securing programmes and targeting of a final diagnosis. This has diagnostic tests, patients and serious implications for their life families cannot access effective expectancy and quality of life and treatment, therapy, or manage results in an inefficient use of their condition appropriately. A NHS resources. delay in diagnosis or misdiagnosis may also involve multiple “When I had a avoidable appointments with doctors and consultants, incorrect tumour which is rare, treatments and diagnostic tests doctors kept sending and significant distress. me home saying it was migraines or the flu, oh and yuppie 50% Chart 1: “How long did you/your family member have to wait for a final diagnosis flu. Then when they 45% following the onset of disease symptoms?” didn’t have any 40% % by length of time waiting for a diagnosis more ideas they 35% told me it was in my 30% imagination.” 25% 9 months to A patient with 20% craniopharyngioma 1 year, 7% 2-5 years Over 20 17% years, 4% 15% less than 6-9 months 3 months 6% 10-20 10% 26% years, 7% 3-6 months 1-2 years 5% 11% 5-10 10% years, 8% 0% less than 3 months 1 year 5 years to 3 months to 1 year to 5 years over 20 years Base: 481 respondents, UK, 2010 Source: Rare Disease UK survey on patients and familiy experiences of rare diseases Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
8 | Rare Disease UK (RDUK)
Difficulties in Accessing Diagnosis
Key Finding 1: Patients 80% Chart 2: “How many doctors did you/your and families affected by family member see before the final rare diseases wait far too 70% diagnosis was made?” long for a final diagnosis. % by number of doctors seen before diagnosis 60% Our research shows that patients and families affected by rare 50% diseases can face lengthy delays in accessing a correct diagnosis. 40% Almost half (46%) of patients with rare diseases had to wait over one 30% year for a final diagnosis following 3 to 5 46% the onset of disease symptoms. 20% 1 to 2 Over 15, 4% 32% 11 to 15 Of this: 10% 3% 6 to 10 15% One in five (20%) waited over five 0% years. 1 to 2 3 to 5 6 to over 15 Over one in 10 (12%) waited over Base: 495 respondents, UK, 2010 10 years. Source: Rare Disease UK survey on patients and familiy experiences of rare diseases
Out of the 19 respondents yet to receive a confirmed diagnosis, 16 have been waiting over a year. Of which, ten have waited five years or more. These findings are a major The results also reveal a striking concern. If patients are not variation – over a quarter (26%) of “Varying diagnoses and incorrect diagnosed early enough the delay respondents received a diagnosis in accessing effective treatment, within 3 months of the onset of information given. It was only after the therapy or management of symptoms on one hand, whereas death of our youngest daughter at the age the condition can result in life over a third of respondents (36%) of 6 months that diagnosis was received.” expectancy and quality of life waited over 2 years on the other. Mother of a patient with being seriously compromised. Gorlin syndrome Delays in diagnosis and multiple The findings also suggest that visits to doctors is a drain on NHS patients and families affected resources which could be more by rare diseases often see efficiently used if the diagnostic “I have a genetic disease but was not several doctors before their final pathway for rare diseases was diagnosed until I was 42 although I had diagnosis is made. improved. It can also be very attended a chest consultant/s regularly stressful for patients and families Over two thirds (68%) of patients having to be passed from doctor since the age of seven.” saw three or more doctors before to doctor, without anyone being Patient with primary their final diagnosis was made. able to confirm a diagnosis. ciliary dyskinesia Over one in five (22%) saw six or more doctors. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 9 Key Finding 2: A worrying “[I] have recently relocated and [my] number of people with diagnosis has been questioned by rare diseases receive [the] new dept. While I welcome the incorrect diagnoses opportunity to get a confirmed diagnosis, before their final the possibility that the initial diagnosis diagnosis is made. was incorrect has greatly annoyed me, The results of the survey suggest especially since I could have undergone that an unacceptably high treatment already if they’d got it right.” proportion of patients and Patient with a pituitary families affected by rare diseases tumour (unknown type) receive incorrect diagnoses before their final diagnosis is made. “Many incorrect
Close to half (46%) of patients diagnoses - were given incorrect diagnoses Information, before receiving their final Awareness and but the worst diagnosis. Diagnosis diagnosis Almost one third (30%) Key Finding 3: Patients had received three or more doctors misdiagnoses. and families worry about the level of awareness (especially GPs) Not only is misdiagnosis of rare diseases among distressing for the patient and healthcare professionals. give is there is their family, but it can lead to a deterioration of the condition as Patients and families responding nothing wrong effective treatment, therapy and to our survey expressed serious management of the condition is concerns about levels of with your child delayed. This can sometimes result knowledge and awareness of in more expensive interventions rare diseases among healthcare - perhaps the being required and, in the worst professionals. The poor practice cases, death. of some GPs, which included problem is instances of not believing patients’ with you (the “Several [incorrect diagnoses], including symptoms and not referring on to specialists, were highlighted as making up the symptoms and one said especially distressing. parent).” that it was terminal cancer!” Patient with myasthenia Mother of a child gravis, neuromyotonia, who died from and Morvan’s syndrome “GP thought he was attention seeking haemophagocytic lymphohistiocytosis suffering middle child syndrome.” Parent of a child “My [son] was not tested to see if he with Langerhan’s cell histiocytosis had [the] same gene mutation as my daughter … at age 4 he became ill [and] was misdiagnosed. We were told on three “Many doctors had no idea and some separate occasions “this is not the same even said the symptoms were in my disease as your daughter” even though head.” some symptoms were very similar. He Patient, myasthenia was diagnosed with HLH (XLP) five days gravis before his death last year.” Parent of a patient with haemophagocytic lymphohistiocytosis Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
10 | Rare Disease UK (RDUK) resources for the public, patients “Being medically qualified I diagnosed my and families, and medical Inequality of daughter’s NFI [neurofibromatosis type professionals. Patients and families Experience 1] at birth, based on axillary freckling. were supported with information Key Finding 5: The The neonatal paediatrician falsely and resources helping them ask the right questions of doctors and experiences of patients reassured me that there was nothing in seeking appropriate treatment, and families of diagnosis wrong. The diagnosis was confirmed by therapy or management of the in the UK can vary condition if diagnosed. other paediatricians at age 4.” greatly. Mother of a daughter with neurofibromatosis and hydrocephalus “All support is via [the] Haemophilia While our research reveals serious Society, or located by myself online. My problems with the diagnosis of rare diseases in the UK, there son was diagnosed in the USA and there It would be impossible for doctors were also clear examples of to know about each and every was much more information regarding good practice resulting in early rare condition – there are over research supplied there… Haemophilia diagnosis, improved quality of life, 6000 recognised at present. What is congenital, i.e. present at birth and for and efficient use of NHS resources. our findings do indicate is a clear life. My son visited his GP on 5 occasions need for better training, sources We believe these instances of of information and systems for regarding excessive bruising symptoms.” good practice should be the referral to specialists to support Parent of a child with norm across the UK. There are doctors in diagnosing rare severe haemophilia A inequalities in the experience of diseases. those with the same condition in different parts of the country and wild variations between service “All of our information and research “Getting a diagnosis was a fraught and received by patients and families comes via the Lowe Syndrome traumatic affair…I am very angry that with different rare diseases. Association in the USA. Diagnosis was Avoidable variations are unfair the local district hospital community made possible by development of a and unjust. paediatrician admitted that she didn’t reliable biochemical assay by the Lowe know what was wrong, that it was Syndrome Association.” “I was referred to the Royal Alexandra “probably genetic”, but insisted that it Mother of a child with Hospital, Paisley, by my family doctor as didn’t need further investigation - and Lowe syndrome soon as symptoms occurred. I was given refused to see [our son] again. If we a series of tests very shortly afterwards had believed her we would have lost our Equally striking was that in a and the condition [was] diagnosed very son...I do not expect [doctors] to know number of cases, the patient or quickly. (I know from fellow members of about every rare condition - that would family member diagnosed their the Association that I was fortunate in be impossible. But I do expect them to condition by doing research the doctors who treated me.)” have the humility to admit when they are themselves after doctors repeatedly failed to diagnose Patient with ocular out of their depth and refer on - not just them. myasthenia gravis ignore.” Mother of a child with congenital myasthenic “We had to push for diagnosis and do a “On telling our G.P. that my wife’s syndrome lot of research ourselves and guide the condition was causing concern he quickly Geneticist in what testing to perform.” Relative of a patient referred her to a consultant neurologist Key Finding 4: Patient with a rare chromosome who quickly diagnosed P.S.P.” organisations play deletion Relative of a patient an important role in with progressive the diagnosis of rare supranuclear palsy diseases.
Our research demonstrates the need to promote the vital role of patient organisations for people with rare diseases in improving diagnosis. They raise awareness and provide information and Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 11 Jayne Hughes’ story Jayne Hughes, mother of Amy who has Cockayne syndrome – Merseyside, England
Amy went through the first and I knew, beyond 15 years of her life with no doubt, that she had CS. diagnosis. Various syndromes Did I rock this family’s were mentioned to our family and world or leave them in then dismissed. At no point were oblivion? I remembered we given any support groups to my time before Amy was contact. We felt very isolated and diagnosed of scouring alone and struggled to come to medical books, useless terms that we had no diagnosis hospital visits and and no care plan at all. After frustration beyond belief researching on the internet for and knew that I had to some years we found what we say something... thought Amy had - Cockayne Syndrome (CS). I approached little Jessie and her mum Jo. I saw We struggled to get basic Jessie’s little tremor, treatment and therapies for noticed her thick glasses, thin hair, Amy and Jessie Amy and eventually, following pedro boots and said how sweet many visits to many hospitals, we she looked. Her mum told me she of her life. She mentioned our decided to raise funds to take was aged 4 and as she was roughly meeting and conversation and was Amy to Boston Children’s Hospital, the size of an 18 month child, I told ‘I know who that lady is and USA, to see a geneticist who knew that she had severe growth I take my hat off to her as I think specialised in CS. This doctor took problems including microcephaly. she is right.’ Testing followed. one look at Amy and said ‘she has She had the telltale high pitched it without a shadow of a doubt’; squeaky voice too. Her mum told Whilst waiting for the results, music to our ears despite the me that she was unable to walk Jessie came to visit Amy and awfulness of the illness. During unaided and finally that she was our family. She lives 30 seconds this visit we met children for the undiagnosed. I told Jo that I was away from us and we are totally first time that looked like our certain I knew what Jessie suffered unrelated. My 9 year old son met child! from and gave her our website her and said, ‘hey, she has CS1 you details - completely conscious know...where did you find her Upon our return from Boston in that I was about to change their mum?!’ 2006, our family set up a support lives forever. I gave Jo my contact group for CS called Amy and details and then left them. I felt Jessie has now been formally Friends and in 2007 we became very uneasy and unsure if I had diagnosed with CS1 and since a registered charity. We wrote to done the right thing. her diagnosis we have learned of genetic departments, paediatric two other children with CS in the departments and hospices all over I waited to hear and lay awake Merseyside area. the UK trying to find other CS every night worrying about sufferers and their families and this family. Four months later I CS is often misdiagnosed or to date have found over 60. We received an email from Jessie’s completely missed but hopefully became the first support group Dad. Jessie had originally been we can change this and help these for CS in the UK and Europe and told that she had a duplication children take part in the trials have families from several other on chromosome 22 but following that are beginning. It is hoped countries from as far and wide as our meeting, Jo had visited her that the treatment given will slow South Africa to Australia. paediatrician and told them of our down the ageing process and in conversation. They organised an the meantime we can help with Several months ago, Amy MRI immediately. support and understanding. and I were visiting our local supermarket when I did a double Jo and Jess had then gone to see Jayne Hughes set up a support take! There in a trolley sat a their geneticist who, ironically, group for Cockayne syndrome, little girl who looked just like was the same geneticist that Amy Amy and Friends, some of our other CS children had seen for the first 12 years www.amyandfriends.org Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
12 | Rare Disease UK (RDUK) Anna Pickering’s story Anna Pickering – who has Ehlers-Danlos syndrome, postural orthostatic tachycardia syndrome and Raynaud’s syndrome – Suffolk, England
At the age of 13, my parents felt quite overwhelmed by that. noticed I wasn’t using one At the time I didn’t know it wasn’t “Once I turned of my fingers at all and were normal to be in pain with most very concerned about it. They movements, I thought everybody 18 everything thought it might have been felt the same, which was why I an injury caused by a skiing never told anyone. I didn’t want changed... accident so took me to the GP to be seen complaining. This was for investigation. From then on one of my last appointments as a Frankly, nobody I had numerous tests and was at child and I believe this could be a hospital appointment roughly one of the reasons why I wasn’t was interested.” every other month for 3 years. taken seriously as an adult. The tests I underwent included nerve conduction studies, MRIs, EEGs, lumbar punctures and lots me. I felt like I was wasting his of others that I can’t remember time and my confidence was at an right now. The appointments all time low. were either in Ipswich, Cambridge or London. I had to go to see When I was 22, I was referred so many different consultants to a physiotherapist because of because, although they all could my back pain. She happened to see there was something wrong, mention that I was hypermobile nobody could quite work out but I didn’t really think much what it was. I feel now that I was about it. receiving reasonably good care at that point, although I wasn’t A year later I was referred to a communicated to very well. hand therapist as the problems I had at school with writing I remember a time, I would have had not got any better, in fact been aged 16, when I was sent out I think they’d got a lot worse. of the doctor’s office so he could This therapist also mentioned tell my mum that I had MS. The hypermobility so when I got doctor didn’t say anything about it home, I Googled this word which to me and expected my parents to had been mentioned to me a few be able to answer any questions Anna Pickering times. I had. I don’t really know what happened for that diagnosis to On a follow up physio be reversed, although I feel that Once I turned 18 everything appointment I saw a different my next London appointment had changed. I didn’t hear anything person, and she told me I needed something to do with it. back about my test results to see a psychologist because she and there were no follow up couldn’t understand why I feel so After that appointment, I returned appointments made. Frankly, much pain all the time. She was to the GP for test results and the nobody was interested. very dismissive and upset me a letter from the consultant said great deal. he thought I was being difficult This was very upsetting for me as because I wasn’t giving him the I was in so much pain and I felt About a year later I managed answers to all of his questions. I wasn’t being taken seriously to get a referral to a Professor I was most upset about this as I anymore. I managed to get a who specialises in hypermobility hadn’t been given the chance to referral to a rheumatologist syndrome/Ehlers-Danlos syndrome talk freely; I was only answering but he was very dismissive. He (HMS/EDS) and got my diagnosis. a series of set questions he had couldn’t understand why I felt so The elation I felt at getting prepared. There were also quite much pain and he said that there answers and being taken seriously a few students in the room and I couldn’t be anything wrong with cannot be put into words! Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 13 Jo Grey’s story Jo Grey who has multiple endocrine neoplasia (MEN) 2a. Her mother, Janet and son Cameron, also have the condition – Kent, England
“Do you believe you can fly?” asked the psychiatrist. If I didn’t have my head over a bucket puking up the nothing I had eaten for weeks, I would have made HER fly – right out the window - for asking such a stupid question. Wearily, I shook my head. Couldn’t she see that I was ILL?
For weeks now I had been retching and vomiting, unable to keep even water down. I had been suffering episodes of severe ‘migraine attacks’, palpitations and breathlessness off and on for three years since the birth of my first child, but now they were significantly worse. My GP was it hadn’t seen anything quite like Jo with mother, Janet insistent, despite my protests, that it for size and activity (probably and son, Cameron the attacks were due to postnatal because he doesn’t perform depression and had prescribed a post-mortems). cocktail of drugs to no avail. I was desperate. Once again, things began to “My GP was move fast and within the space “Do you want to harm yourself?” of 3 years I had been genetically insistent, despite the psychiatrist persisted. A diagnosed with multiple sensible question at last! All endocrine neoplasia type 2a my protests, that I could manage was to nod (MEN2a), along with my mother pathetically into my bucket. and my then 2 year old son, the attacks were Suddenly, urgent phone calls were had both tumour-containing made: to my husband to check if I adrenal glands removed along due to postnatal had health insurance; to my GP; to with my cancerous thyroid, as a psychiatric hospital. did my mother, and my son depression and had a prophylactic removal of “They can take you tonight, it’s his thyroid to avoid developing had prescribed a all arranged” she said. I could not thyroid cancer. We do relatively have cared less anymore. well now, on a different cocktail cocktail of drugs of drugs, and are regularly Alan, my husband and my mother, monitored for recurrence (which to no avail. I carried me almost unconscious resulted in the replacement of one into The Priory near Bromley in of my shoulders in 2007 due to a was desperate.” Kent. This quiet unassuming place thyroid cancer bone metastasis). was to be my saviour. After 3 years of pain, it was now a matter As you might expect, primary I had so very nearly died and this of days before they had diagnosed healthcare is one area of concern would have left 2 very young a large adrenal tumour (NOT post- for me for patients with rare children motherless. The thought natal depression). The tumour diseases like MEN; particularly of what could have happened still (a phaeochromocytoma) had regarding diagnosis. The specialist haunts me 10 years on. been causing my blood pressure NHS hospital team were fantastic to reach immeasurable heights throughout, confirming the Jo Grey is Chief Executive Officer and had put me at serious risk of need for rare diseases like MEN of AMEND – the Association for stroke and heart failure. In fact, to be managed in an expert Multiple Endocrine Neoplasia the surgeon who finally removed multidisciplinary setting. Disorders – www.amend.org.uk Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
14 | Rare Disease UK (RDUK) Patient Care, Information and Support
Scarce Key Findings Information 1. Patients and families are not provided with enough information Key Finding 1: Patients on all aspects of their condition, both at first diagnosis and are not provided with subsequently. enough information 2. Information to patients and families must be provided in a range on all aspects of their of formats and at various levels of medical and scientific detail to condition. ensure full understanding and informed decision making. Over half (52%) of the 3. Patient organisations are often the main or only source of respondents to our survey felt information for rare disease patients. they hadn’t been given enough information on their condition 4. There is a lack of support for rare disease patients with their following diagnosis. medical and non-medical issues.
“We simply received the name of the Patient organisations can be condition, then Googled [it].” “When we heard about our condition we a huge source of information Relative/carer of a were left to deal with it. I saw an article for patients and families, and person with progressive in paper about a lady who had the same so it is vital that people are supranuclear palsy condition as me and there was a number made aware of them as soon as possible. Patient organisations are to ring which was Ataxia UK. I can’t able to give up-to-date reliable The majority of patients (65%) thank them enough for bringing us out information on the condition, and were given initial information by offer support to newly diagnosed their specialist. Other people were of the woods.” patients. Often they also run a provided initial information by the Patient, familial patient forum where patients internet, patient organisations, hemiplegic migraine type2 with cerebellar can discuss queries with others GPs and other sources. Some told ataxia affected by their condition which us that shockingly they were given is something many appreciate. It no information at all when first is not uncommon for patients to diagnosed with their condition. The fact that most patients are have never met someone with the These patients are left to their first given information by their same condition until they come own initiative to find information specialist shows that there is a across a dedicated support group. on their condition (despite the need for healthcare professionals fact that good-quality information to have access to reliable, up to is not always easy to find without date sources of information on “Support groups, helplines and guidance), or they may come rare diseases, so that they are newsletters from the Pituitary Foundation across information only by chance. able to pass it on to the patient have been invaluable for information and their family, particularly as the specialists themselves may before my operation and after diagnosis not know a great deal about the and treatment.” condition. Patient with craniopharyngioma Nearly two-thirds (64%) of patients were not given details of the relevant patient support groups at the time of diagnosis. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 15 Unfortunately, there are no support Key Finding 2: from websites again highlights the groups for many rare diseases Information should be need for healthcare professionals meaning that patients and families to have access to a stock of reliable may never get the information and accessible in a range of online resources which they can guidance they need. formats and at various then simply direct patients to. levels of medical and 39% of respondents like to attend “Any [information] would be great, I’ve scientific knowledge to discussion groups and a third like not had one leaflet. My baby has no skin ensure full understanding to get information from books and informed decision (34%) or academic journals (34%). or skull, and I leave hospital, without However, over a quarter (28%) of even a health visitor’s home appointment, making. respondents did not understand all support group, nothing!!” the information they were given The most common format for about their condition. Mother of child with information to be provided in multiple complex rare was leaflets, with almost half our These findings indicate a need conditions respondents being given leaflets on for information to be accessible their condition. Over a quarter were at a range of different levels of directed to websites, with many understanding. Some patients Two thirds (66%) of patients and also being given information in an will prefer to have very thorough, family members say that they now ‘other’ format, which was mainly technical information on the feel they have sufficient knowledge verbal information from their condition, whereas others like to of their condition. Whilst this specialist, but also included print have simple, basic knowledge of finding is encouraging, it also outs from websites, photocopies their disease meaning information suggests a significant amount of from books and information in a must be signposted according to patients for whom there is a lack letter or over the phone. A large individual preference. This will of available information on rare number of respondents reported ensure that the patient or family conditions, too few opportunities being given no information at all will be able to understand and use available to discuss their condition when they were first diagnosed, just the content to support effective and with experts, or a lack of the name of the condition which appropriate decision making. knowledge of rare diseases amongst they then had to go and research professionals. for themselves. “I understood some of the contents, but The areas which respondents indicated they would like more “[We received a] phone call for diagnosis most of the information would have been information on include clinical on New Year’s Eve with the comment understood by someone with a medical management of the condition, background.” progression of the disease and the from GP ‘I don’t know anything about it long-term prognosis, the cause go on the computer and look it up’. We A patient with of the condition, current research Langerhan’s cell didn’t have a computer!!!” projects, treatment options, and histiocytosis advice on what to tell schools, Relative of a patient A&E and family members. Many with myasthenia gravis people also replied that although Key Finding 3: Patient they did feel they have a sufficient organisations are often knowledge of their condition, they always welcome the opportunity “Was told the bare minimum in a five the main source of to learn more, and like to be kept minute chat most of which turned out to information for rare up-to-date on recent developments. be incorrect.” disease patients. Relative of a patient For many patients (52%) the main “You can never have too much with bilateral and chronic uveitis source of information is the relevant information.” patient organisation. Many patients Relative of a patient and families rely on these groups to with haemophilia A When asked what their preferred inform them of the condition, what method of being given information to expect and what support exists/ on their condition was, the most they are entitled to. This again popular were, to be directed to highlights the need for patients to “I think we could always want more, and websites (69%), and to receive be informed of these organisations (where they exist) when they as research progresses we should get told leaflets (66%). These are simple ways in which to give information are first diagnosed with a rare everything!” and directing patients and families condition. A patient with single to the information that exists is of system Langerhan’s cell little cost to the NHS, but at the histiocytosis same time, makes a significant difference to patients and families. The preference for information Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
16 | Rare Disease UK (RDUK) important that there is someone “All support given comes via TSA who they can talk to to ensure that “Support in all areas has been poor. [Tuberous Sclerosis Association] - clinic, they are caring for the patient as Benefits are now coming in because of online sites, research, written info, family best they can. There should also be constant pressure of me and my parents.” someone available to direct them to liaison workers etc.” appropriate services, to offer them Patient with Becker Relative of patient with support with their own needs, as muscular dystrophy tuberous sclerosis caring for a loved one can be a very difficult job and the impact of this on the carer must be recognised. This ties in to the issue of the lack “Would desperately like more financial “[We were] Advised to contact P.S.P. of a Care Coordinator discussed in help - I would like to work less hours but Association which has proved invaluable.” “Delivering Coordinated Care”. receive benefits and do not know how Relative of a patient with to work out what cutting my hours will progressive supranuclear palsy “I have never been given an opportunity mean to me but there seems to be no to talk about my condition with a where I can turn for help.” professional apart from when seeing my Patient with “Information was only forthcoming centronuclear myopathy consultant in a teaching hospital (usually (leaflets, DVDs) after I became involved with 5 + students).” with Ataxia UK.” A patient with palmoplantar Patient with keratoderma areata “We are proactive parents, asking cerebellar ataxia questions at every opportunity. Not Our survey shows that support sure that all TS carers would consider for patients’ and families’ they had access to either information or “Our families, friends and members of non-medical concerns is greatly professional support.” Myeloma UK and the support group lacking. Parent of a child with have been wonderful. My husband’s tuberous sclerosis employers have been supportive. The || Only one third (33%) of survey respondents feel that they actual nurses are very good. The doctors Of those respondents that are have been at times barely adequate. The receive sufficient support with carers for someone with a rare public bodies dealing with drug funding their social needs. disease, 61% said that their role as carer affected their ability to hold and benefits have rarely been helpful || Only 29% feel they receive paid employment. Coupled with and have at times been obstructive and sufficient psychological a lack of information on available occasionally very offensive.” benefits and financial assistance, support. this may result in further financial Wife of patient with difficulties for families affected by myeloma || Less than one quarter (24%) rare diseases. feel they receive adequate support with financial concerns. “I had to give up my full time job and Insufficient work part time to fit in with my caring Support Many of those who said that commitments.” support in these areas is now Relative of a patient with Key Finding 4: There is a being provided reported having to juvenile Batten disease repeatedly ask or fight for access to lack of support for rare obtain that support. disease patients with their medical and non- These are shocking statistics. Not “Frequent illness of child and complex only do patients and families with medical issues. rare diseases frequently face a care needs make paid work impossible battle to get a diagnosis, they for me.” Over one third (37%) of patients then have to battle to find out the do not have someone who they can Relative of a patient with an medical impact and how to manage undiagnosed condition approach with questions on their their condition as well as having to condition. cope with day-to-day life without adequate support. We believe it is vital that there “I would find it impossible to work.” is someone to support patients with their queries as their disease Relative of a patient with progresses, and many carers and central core myopathy family members also feel it is Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 17 Anne Begg MP’s story Anne Begg, MP for Aberdeen South who has Gaucher’s disease – Scotland
I was in my late thirties before I internet or Google so there was even spoke to someone else who simply no information about what had the same disease as myself. It it meant to have this condition was a very emotional experience nor any way of tracing fellow and suddenly lots of things in my sufferers. life fell into place. Nor was there access to Thirty years before, my mother a specialist, not even a had insisted that an eight year haematologist, and the doctors old shouldn’t look nine months who looked after me for the next pregnant and something was thirty years could only deal with wrong. Our GP said it was just the effects of my condition. So a ‘baby tummy’, my mother a general surgeon took out my insisted that at eight it couldn’t spleen when I was 11, followed be. I bruised easily, always looked by the surgeons who had to slightly jaundiced and had been correct the hiatus hernia, then in hospital the year before with a the obstructed bowel which mysterious ‘sore tummy’. One feel resulted from the spleenectomy. of my stomach by a consultant After that, it was the orthopaedic told him I had a huge spleen, but I surgeon who dealt with my would need a stay in hospital and multiple fractures and painful a bone marrow biopsy to discover joints. what had caused it. I had adjusted my life to living So the Gaucher’s diagnosis was with a degenerative disease eventually established and all it and didn’t even think about a said in the medical dictionary my treatment or cure. There wasn’t mother looked up was that it was one so there was no use fretting. “an inborn error of metabolism”. This was the sum knowledge of Then out of the blue a letter my condition - it was very rare, it arrived saying there was a new was more common in the Jewish treatment for Gaucher’s called Anne Begg MP community and there were two Enzyme Replacement Therapy forms (actually there are three), and was I interested. If I wanted the child one which meant death more information there was a before the age of 5 and the Gaucher’s Association and I could adult one. I was still alive so we phone the Secretary, Susan Lewis. deduced that I had the adult I did and spoke for the first time form! in my life to someone who also had Gaucher’s. It was a long And that was that. Computers conversation! hadn’t been invented, far less the “I was in my late thirties before I even spoke to someone else who had the same disease as myself. It was a very emotional experience and suddenly lots of things in my life fell into place.” Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
18 | Rare Disease UK (RDUK) Rhya Homewood’s story Rhya Homewood who has hereditary neuropathy with liability to pressure palsies – Kent, England
I became a regular face at my My GP was doctor’s surgery when I began relieved at the experiencing some very bizarre HNPP diagnosis problems including pain in my saying to me, ‘I hands and feet, pain in my knew there was shoulder and limbs, and numbness something in one side of my mouth including wrong and now half my lips just like I’d been to this proves that the dentist. I was exhausted and you weren’t felt frail. After being a single imagining all parent of four very active boys these weird and taking them hiking, doing symptoms’. loads of sports and being a dance instructor, I could barely get out People don’t of bed because I was in so much understand pain. I couldn’t dress myself or about HNPP, so even cut up my own food at meal I tell them I have M.S. just to Rhya with her sons times. give them a point of reference. Having a rare condition is an We were all baffled and all my awful position to be in. I had doctors could do was dish out always been fast, strong, able the painkillers which didn’t help and capable. Now I often end up much and try referring me to feeling helpless and useless and various consultants to see what hopeless because no one knows they made of things. Eventually how to help you. I saw a consultant neurologist who listened to my tale of woe. Finding Rare Disease UK has been “I often end up He decided to run a few tests, a great experience because I met telling me that apart from having people with very diverse problems feeling helpless carpal tunnel syndrome (which and somehow I didn’t feel quite so I had heard of), I fit the profile alone anymore. and useless of a very rare condition called hereditary neuropathy with I educate everyone I meet, telling and hopeless liability to pressure palsies (HNPP). them about HNPP and what it My neurologist had only ever does. I hope that I can continue because no one encountered four other people to spread the word to influential with the condition and treated ears in the hope that services for knows how to two of them, but had never people like me are more widely diagnosed someone with it as it’s available and training for medical help you.” so rare. practitioners in managing patients with a rare disease is improved. Finally the results came through - a conclusive positive result for I want to raise awareness as much HNPP. I was informed that my as I can and keep the plight of nerves are demyelinising and people who have rare conditions are actually deleting, so the in the limelight because we have a muscles no longer get enough right to make the most of our lives nerve signals from the brain and and with the right support, who begin to atrophy from loss of use. knows perhaps the job of foreign This condition is incurable and secretary is open..? degenerative. One can dream still. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 19 Fiona Fisher’s story Fiona Fisher, mother of Jonathan who has Lowe syndrome – Fife, Scotland
We are the Fisher family living Over the years, in Fife and looking after our son caring for Jonathan Jonathan aged 16, with Lowe and being grateful syndrome, a rare, life-limiting, for outside support life-threatening genetic condition has encouraged me that affects only boys. Jonathan to be involved in a has multiple and profound number of UK groups, physical, learning and sensory including Contact disabilities and complex medical a Family, Genetic needs, including epilepsy and a Alliance UK, PAMIS, renal disorder. He needs 24/7 care InControl Scotland and supervision. We also have two as well as chair of healthy daughters, aged 17 and 9. his school parent council. In the same Living with Lowe syndrome has period, I’ve become Fiona and her son Jonathan given us a unique insight to how increasingly politicised the UK supports families like ours, about how the UK supports parent from health, education and social carers like me. services to benefits, leisure and wider society in general. We’ve Before I had Jonathan, I was had to fight long and hard all his a graduate biochemist with 3 life for all manner of services and years experience in pathology support, as a child and now he’s laboratories. If I had been able legally an adult in Scotland, we’re to stay at work, I estimate I could currently pursuing legal welfare have reasonably earned £250,000 and financial guardianship under over the past 16 years. Instead I “We’ve had to the Adults with Incapacity Act have been paid Carer’s Allowance Scotland (2000). We have to work to the tune of around £33,000. fight long and hard to cultivate positive working That’s not per year, that’s for relationships and continually a total of 16 years work, the hard all his life promote our knowledge of Lowe equivalent of 20 something pence syndrome to professionals. per hour. for all manner Crucial to our family has On top of that I have no right to of services and been the support of the Lowe a day off, emergency or sickness Syndrome Association (LSA) cover, health and safety training support” based in the USA. It is a non- including moving and handling, profit, patient advocacy charity nor an occupational pension. run by parent volunteers that And because my husband works, fosters information, friendship I have no entitlement to free and research of the condition prescriptions or dental care, even worldwide. Without the LSA, though I earn less than a Job I firmly believe that Jonathan Seeker. If I had given Jonathan would not still be with us as we over to state care, he would have gained crucial knowledge about easily cost a million and a half to his renal function at a medical look after so far. conference they hosted in 1998 which subsequently saved his life twice. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
20 | Rare Disease UK (RDUK) Coordination of Care
Fragmented Care Key Findings Key Finding 1: The 1. The majority of patients’ care is poorly coordinated. majority of patients’ care 2. Patients have to attend multiple clinics for different aspects of is poorly coordinated. their condition, often at a long distance from where they live. Most rare diseases affect multiple 3. The majority of patients do not have access to a specialist centre parts of the body and many for their condition. different professionals are often involved in care and treatment, 4. Patients frequently experience problems with medical, as such there must be good psychological, financial, social and other issues at transition coordination and communication periods. between them.
75% of respondents told us that the patient does not have a designated Care Coordinator or || Each professional the patient Care Advisor. “My husband’s care is split between two comes into contact with looks hospitals... One never requests records A Care Coordinator is a trained at specific elements of the from the other so tests are duplicated professional responsible for seeing condition, but no one being and delays blamed on each other. No one that a care plan is in place and concerned with the condition carried out, and they can greatly takes overall responsibility and there is as a whole. assist in ensuring continuity of no one person to refer to for even simple care at transition times. They || Patients or families having to requests let alone really important ones. are also available to talk to the repeatedly tell their story to patient about their concerns and Repeated requests for information go to support the needs of the family all professionals involved in unanswered.” or carer. A Care Coordinator can their care. Wife of a patient with provide vital support to a patient || Feelings of being lost in the multiple myeloma and their family throughout the healthcare system. progression of their condition to ensure that care is carried out as || Patient notes being lost. smoothly as possible. “[There are] too many new people || Patients and families not coming into our son’s life and ours – [this Not having a Care Coordinator can knowing who to go to with is] really difficult when everyone changes aggravate a number of issues for queries on their condition. particularly when the family has had to patients and their families. Some | of the problems experienced by | A lack of continuity in those have an open door to all involved.” our respondents included: involved in the care of the Parent of son with tuberous sclerosis patient.
“My GP knows very little about my condition so I am reliant on the hospital, “Many meetings with medical professionals but would like to be able to contact become us informing them about the someone there at times and realise it is not always appropriate to contact the condition!” consultant.” Patient with primary A relative/carer of a person with ciliary dyskinesia non bullous erythrodermic ichthyosis Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 21 The lack of a Care Coordinator Key Finding 2: Patients often means that there is no-one have to attend multiple to take central responsibility for all the different aspects of care clinics for different received by the patient. As well aspects of their as the negative impacts already condition, often at a long mentioned, this can result, in the distance from where they worst case scenario, in serious live. mismanagement of care leading to increased hospital admissions. It A quarter (25%) of all patients is therefore shocking that so few attend either 3 or 4 different patients have access to someone clinics, with over one in ten (12%) to fulfil this role. patients having to attend more “Although no than five different clinics for their Respondents were asked who they condition. problem with would like to fulfil the role of Care Coordinator. One fifth (21%) Attending multiple clinics can my employer said they think it should be a result in a large disruption to a specialist nurse, but the lack of an patient’s and carer’s daily life, and there are lots overwhelming preference suggests can make regular attendance at that as long as there is someone school or work very difficult. of hospital available to centrally coordinate care, patients and families don’t appointments mind who it is, provided they “With so many hospital appointments to have sufficient knowledge of attend, I find great difficulty in trying to where I feel bad the condition and the situation. hold down part-time employment.” This is backed up by a number of about taking comments received from family Parent of two children with X-linked members: agammaglobulinemia time out”
Relative of a patient “If anyone would coordinate my Two thirds (66%) of patients with panhypopituitarism daughter’s care it would be wonderful as that attend clinics need to travel I’ve been doing it for years.” for over an hour to get to their Parent of a patient with furthest clinic, with one in three 1q21.1 microdeletion (32%) having to travel for over two hours. More than a tenth (15%) of all patients travel for over three hours to reach their “So long as it is one person - perhaps a furthest clinic. specialist nurse if there was one!” Mother of a child These figures reflect that often who died from care isn’t, or can’t be, provided in haemophagocytic a local hospital so patients need to lymphohistiocytosis travel to bigger regional hospitals for their appointments. Combined with the fact that patients often Some patients/carers are happy have to visit multiple clinics, to coordinate their own care, this causes further disruption to especially as they often have normal life, and can have a large become the experts in their financial impact on the patient condition. When this is the or their family due to the cost of case, patients or carers must be travel. Improved communication empowered to do so. and support between local and regional services would enable “As a mother, I know best but would more care to be provided locally, reducing the need for patients wish specialists to take more notice of to travel long distances for their what I know is needed” needs to be met. Parent of child with Prader-Willi syndrome Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
22 | Rare Disease UK (RDUK) Expertise on rare diseases is often “[We can’t] afford £225 for rail fare to Key Finding 3: The majority of patients hard to come by, so patients be in London for a 10am appointment should be supported to access do not have access to [which takes] 3-4hrs.... so we drive down specialists where they do exist a specialist centre 3. for and stay overnight in a [hotel]. [It] takes without being unnecessarily their condition. restricted by territorial boundaries 4x longer, but is half the cost.” between the NHS in each of the Mother of a child with Less than half (45%) of four home nations. Proteus syndrome respondents said that they are aware of a specialist centre for their condition. Transition “[It takes] 2 hours following a house Less than a third (32%) of Troubles move from the north of England to be respondents knowingly access nearer the specialist, it used to be an all a specialist service for their Key Finding 4: Patients day trip there and back.” condition. 31% of respondents frequently experience Relative of a patient were not sure if there is a problems with medical, with Langerhan’s cell specialist centre for their condition psychological, financial, histiocytosis which may be indicative of a lack of information about available social and other issues at services. transition periods. A number of respondents highlighted that the The majority of those who named Almost 30% of patients reported inconvenience of having to specialised centres, named services experiencing problems in the attend multiple appointments that are commissioned at a transition from paediatric to adult is aggravated by other practical national level for those conditions services. This may actually be issues, most notably, problems in by NHS Specialised Services in higher as a significant number parking at hospital car parks. England. However, the diseases of respondents replied that they these services cover are a very ‘didn’t know’ whether problems Patients and families are generally small proportion of the total had been experienced. happier to travel if it means all number of rare diseases. their appointments can be carried out in a one day multidisciplinary One issue highlighted was the “I was ‘forgotten’ about by medics when clinic where they can meet all difficulty patients sometimes I turned 18” the specialists in one place. This experience in accessing experts Patient with Ehlers- highlights the value of ‘one-stop in their condition who are based Danlos syndrome, shop’ clinics which cause less in a different home nation to postural orthostatic disruption to a family, and themselves. tachycardia syndrome, supports the need to further Raynaud’s syndrome develop these for more conditions where possible. “I have asked for a referral to the Bath clinic and this was sent by my GP in “We are in the process of transition. There are also good examples December 2009. I am still waiting for highlighted of professionals As the support line, I have listened to an appointment simply because I live travelling to patients: parents who have gone through this and in Wales and not England so priority is who were desperate for an adult centre. given to English patients, however, there “All professionals visit the school so Only now do I fully understand their is no specialist clinic in Wales and I do I don’t have to visit them all (brilliant desperation” not feel I should be discriminated against Relative of a patient idea).” because of where I live. Getting the right with Proteus syndrome Mother of child with X-linked congenital treatment through a non specialist clinic ichthyosis and multiple is impossible.” other conditions Patient, hypermobility syndrome/Ehlers- Danlos syndrome, hypermobility type.
3. In the survey, we defined a specialist centre as a centre that is able to provide expert advice on diagnosis, assessment and treatment of a particular condition. The centre will be made up of a team of multidisciplinary specialists, as well as scientists and researchers. Specialist centres support patients across the UK, not just in their local area. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 23 Problems were experienced Financial problems experienced: the general progression of the in all areas of care – medical, condition, and what support psychological, financial and social. || Lack of information given on is available to patients and healthcare professionals at various the changing financial support Medical problems experienced in stages of the disease; as well transition included: available for patients. as patient-held records to give || Patient needing to attend the patient or family control of their medical notes which they || Lack of communication more clinics as an adult, between specialists, or can then pass to the relevant resulting in increased costs of professionals to prevent them between specialists and the travel. having to continuously repeat patient/family. their stories and medical history. || Patients no longer being || Patient or family not being The appointment of a Care able to claim benefits despite Coordinator would also ensure given a discharge pack/ having been able to get them continuity and communication handover/transitional as a ‘young person’. between all necessary people at arrangement. transition. || Lack of knowledge of the condition within the adult “Trying to secure appropriate long-term service. benefits in adulthood was a bureaucratic || No one to take responsibility nightmare.” for the patient. Mother of a daughter with 18q minus || No holistic approach to care. || Conflicting information Social problems experienced in received. transition: || No consultant available to take on care. || No (or very limited) social || No more clinics offered/no support offered. specialised adult service. || Not being provided with any information on available social “Needed clubs or groups, or how to Psychological problems included: counselling, but access those that do exist. [the] waiting || No support offered to patient || New social teams have or family. different approaches to old list was so long teams. || Feelings of isolation and of my daughter being ‘cut off’ by a team the || Social workers lack experience patient has come to know. or knowledge of the attempted condition. || Difficulties arising due to the suicide.” patient being unable to deal with change. Mother of a daughter “Huge change for the family - new || Families not being offered any with 18q minus teams - no introduction - difference in counselling even when there is approach.” a great need for it. Mother of a child with || Psychological support of X-gammaglobulinemia adults services not being as good as that in paediatric The high number of problems services. experienced demonstrates the || Patient now being treated as need for the development of resources to ease transition. an adult despite having the We suggest this should include understanding of a child. disease routemaps to lay out Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
24 | Rare Disease UK (RDUK) Kay Parkinson’s story Kay Parkinson, mother of Charlotte and Matthew who had Alström Syndrome – Devon, England
We first heard the words Alström with the condition. She also said is now a standard test at all our Syndrome in 1996, when our that my children would probably Alström clinics. Matthew should two children were then 18 and also be diabetic (they were) and to have been screened for dilated 15. Soon after birth, they had get them checked for this. cardiomyopathy when his sister both been extremely sensitive collapsed at 11 weeks and we to bright lights and their eyes In 2003 Matthew’s heart started always screen for this annually seemed to wobble up and down. to deteriorate and he was now at the clinics. Medication My daughter also collapsed at referred for a heart transplant at can help slow the progression as 11 weeks in heart failure due Papworth Hospital. He received do regular exercise and healthy to dilated cardiomyopathy but his first offer of a heart just four diets. Matthew collapsing in heart we were told that there was no hours after going on the list; failure, which is the worst possible connection between any of the unfortunately that heart could state to have been left in, meant symptoms they were experiencing not be used. Just two days later he struggled from then on. and that my daughter’s heart he received condition was probably due to a a second virus. They were both registered offer of a blind by the time they were 5. heart and this time the Charlotte also developed hearing operation problems at age 7. We had been was able to given various different diagnoses go ahead. during their lifetime which Sadly, seemed to change as different Matthew eye specialists came and went. only lived We really became disinterested in for one the diagnosis (which only related week to their eye conditions anyway) after the and concentrated on giving our transplant. children as happy a life as we could. In 2007, Charlotte When our son was 16, he went into collapsed - also with heart failure kidney failure and went onto Kay and John Parkinson with their children, due to dilated cardiomyopathy dialysis. This put an enormous Matthew and Charlotte and for the first time the medical strain on her already weak professionals started to think that heart and she was referred for Matthew and Charlotte are a maybe there was a connection a combined heart and kidney classic, tragic example that a between all the problems that my transplant at Queen Elizabeth failure to treat is not cost effective children were experiencing. Hospital in Birmingham. Charlotte on very many levels. waited over a year on the list and Another new diagnosis was made finally got the call that the organs Kay Parkinson set up Alström – Leber’s amaurorsis. We were were available in April 2009. Syndrome UK Support Group then asked if we would be willing Charlotte never awoke from the for people affected by Alström to go to Great Ormond Street surgery. syndrome. She now helps to run Hospital as a consultant there was the nationally commissioned looking into this condition. This Had Matthew and Charlotte been clinics to ensure all Alström consultant said their condition diagnosed sooner they would patients have access to the was not Leber’s amaurosis but not have needed transplants services they require. she did know what it was, it was at such a young age. Both had www.alstrom.org.uk called Alström Syndrome and she un-treated diabetes for many had written a paper on 22 people years before being diagnosed, this Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 25 Craig and Gemma Mitchell’s story Craig and Gemma Mitchell, parents of Ella Mitchell who has a 6p25 Deletion – Kent, England
Our elder daughter Ella was with a disabled child and coping born in 2003 and after a tough with all the issues that result. start suffering with infantile spasms, a serious form of Parents and carers of disabled epilepsy was diagnosed with a children are often tired to the rare chromosome disorder at point of exhaustion and almost nine months old. She has part of never get a break as children chromosome 6 missing (a ‘6p25 like Ella require constant care deletion’), a very rare condition and attention. There is very about which doctors and other little public awareness or involved professionals have understanding of what it really little knowledge. Ella has severe means to raise a disabled child, learning and communication particularly one with a rare difficulties, hypermobile joints, disorder. and a pronated right foot/ankle and can tire easily. She wears Having a care management strong glasses and has regular pathway or someone to act as a hearing tests. She also has a skin care coordinator right from the condition called morphoea and time of initial diagnosis would is on strong medication for this mean not having to answer the which requires regular blood tests. same questions over and over Naturally, she hates having them again as each ‘new’ person we see done so they are very stressful for tries to understand Ella’s disorder. her and everyone else involved. Parents of disabled children often have to fight for even the most Ella requires lots of additional basic services and it seems that care and has at least 2 hospital those with rare diseases have to appointments per month, often struggle even more. Deliveries of at London hospitals, which means nappies for Ella recently stopped lots of travel from our home in pending a ‘reassessment’, but Craig and Gemma Kent. We have regularly come into nobody actually told us this in Mitchell with their contact with doctors and other advance. Simply finding out who daughters, Ella (right) professionals who are seeing Ella we needed to speak to about and Holly (left) for the first time and the rarity of this became a struggle in itself! her chromosomal disorder means Awareness of conditions such as they often have little knowledge Down’s syndrome, cerebral palsy Craig works for Unique, a source or understanding of it. We have and autism is currently high but of information and support to lost count of the number of times parents of children with rare families with a child with a rare a doctor or other professional disorders constantly have to chromosome disorder. Please visit has asked us to “begin at the explain their child’s condition and www.rarechromo.org beginning”, as they try to justify why they need services. understand Ella’s condition and This is often very time-consuming the health issues associated with and extremely frustrating and it. We were even once asked “so.... upsetting. why are you here?” by a doctor! This just adds to the stress of living Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
26 | Rare Disease UK (RDUK) Toby Mildon’s story Toby Mildon who has spinal muscular atrophy – London, England
I was diagnosed as having spinal When I was 16, I fell out of bed strengthen my arms and hands, muscular atrophy (SMA) (Type 2, and broke my leg. The doctor several blood tests and doctor Intermediate) by my first birthday. in our local hospital wanted to visits. I could only crawl backwards put me in a plaster cast but my and I could only stand if I held Mum knew that this would only Thanks to the care that I received, onto something and locked my encourage muscle wastage. She from both the hospital staff and knees. I wasn’t fazed at all and asked Hammersmith to write my personal care assistants, I have as a toddler carried on as normal. to my doctor to explain that a been able to get back to work and My first wheelchair was a bright plaster cast was not suitable. The my normal way of life. Although yellow go-cart. If I accelerated doctor came storming over to my I have SMA, with the appropriate fast enough, I could do wheelies bed with fax in hand and said support, I have found it is possible on its back wheels! “tell your Mum that if she wants to lead an active and fulfilling life. Hammersmith to treat you we’ll There were times when I was send you up in an ambulance and young that my disability got they can deal with you instead”. me down, such as when my I realised at that moment that wheelchair would break down doctors don’t know it all and I and frustrate me immensely. have to stand up for my needs. However, having been born with a disability, I feel as though I grew I haven’t let SMA stop me from accustomed to it as I grew up. living life to the full - I did well “Thanks to at school and then went to Throughout my childhood I had University. After graduating I the care that quite a lot of hospital visits. My moved back to London and have GP took a muscle biopsy from my had a successful career, including I received, leg to diagnose the SMA. I had at the BBC where I now work. the tendons in my groin cut so I I’ve had many great experiences from both the could open my legs up. When I including learning to ski and scuba was 11 I had my spine fused with dive, and I’ve been able to travel hospital staff two rods to correct the S-shaped a lot with work. I have also learnt scoliosis. to drive in a specially adapted car. and my personal I’m training to be a life coach and We would drive up to hope to establish my own practice, care assistants, I Hammersmith Hospital every and I recently filmed a pilot for my year to the SMA clinic where the own TV show with a friend. So I’m have been able top neurological doctors and definitely not letting it hold me physiotherapists were. It’s very back! easy to look at disability from a to get back to medical standpoint; to be quite In March this year, I became very black and white about what’s ill and ended up in intensive work and my causing the disability and to fix care. There, my kidneys, liver and things with medical intervention. stomach stopped working and normal way of I think doctors should also my heart was playing up as well. consider the emotional and The doctors decided to put me in life.” psychological side of life. There an induced coma and I was there were no egos at Hammersmith for two months. I don’t have any and the medical professionals memory of my stay in hospital worked with me and my from the time I was in A&E until parents rather than just dish out the day I woke up. I had to have prescriptions and remedies. chest physiotherapy three times a day, occupational therapy to Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 27 Charles and Miranda’s story ‘Charles’ husband of ‘Miranda’ - Somerset, England Confirmed diagnoses - Wegner’s granulomatosis, autoimmune hypophysitis, severe premenstrual syndrome. Suspected diagnoses - chronic fatigue syndrome, sleep apnoea
“Your condition does not match was not sure what else he could first ever MRI scan. This revealed anything in my medical reference do, Miranda said she would not a swollen pituitary stalk and an books and I am not sure what have coped. She had started abnormal auto-antibody result, more we can do, other than if you to tell herself that she must be although even Mayo admitted her found somewhere you thought making it up as no one could put condition was very very complex. could help, I would be more than a name to her condition or help This trip cost our family $20,000 happy to arrange a referral”. It her in anyway. She started to and exhausted all of our savings. was not for the want of skill or get depressed and was referred effort on the part of my wife to a psychiatrist. Miranda was On returning to the UK with the Miranda’s GP that led to her being started on anti-depressants, but Mayo Clinic’s recommendations, told this at one of her frequent these only made her symptoms the local PCT were concerned visits to Dr Clarkson. Since she worse. After being seen by several about escalating costs of had become ill in 1991 after the different psychiatrists, she was investigations without a positive birth of our first child, her GP had advised to start lithium treatment. outcome and the family GP had been most supportive and spent Thankfully, in 2001 she was to fight long and hard to get many hours of his own time trying referred to The Maudsley Hospital. funding for the referrals the Mayo to track down what could have They categorically stated that Clinic had advised. caused her to become so disabled. primary depression was not the cause of her condition, although Over the next 10 years, Miranda Her symptoms of insomnia, they could not suggest what was. was seen by several different fatigue, sweating and menstrual departments in several London irregularities had defied all efforts Miranda and I took a decision teaching hospitals. During this to control and bring in relief for to sell our family business, to time, it was largely down to her. Some of her symptoms were enable me to spend more time my efforts that correspondence non-specific and although they in caring for her and our two and test results were circulated all started simultaneously, the children. This also allowed me between hospitals and it was unknown was if this was caused to start to research doctors and only after being finally diagnosed by one or more undiagnosed hospitals that could possibly help earlier this year that I was able conditions. Dr Clarkson had an my wife. I spent hours calling to persuade one consultant to excellent rapport with many secretaries of consultants to ask telephone another hospital to consultants at both the general if they had ever seen or could discuss her case! district hospital and the regional help such a case as Miranda’s. tertiary hospital and for the past This resulted in a number of Meanwhile, the strain of 20 years nine years he had not hesitated NHS and private referrals, some has taken its toll on our family. to refer Miranda for further different treatments, but still no I `burnt out` trying to look after investigations by a number nearer a much needed diagnosis. them, manage my wife’s care and different specialities. One evening an NHS consultant hold down a job. The two children retuned my call and although he require psychological support and All of these investigations drew did not feel he should be involved we are currently being helped to a blank. Miranda’s condition was in Miranda’s care, suggested find suitable support that we need not responding to any treatment. that the Mayo Clinic in Rochester on a daily basis. Steadily, she was finding it USA may be worth considering. increasing difficult to manage. Miranda’s GP agreed and within ‘Charles’ and ‘Miranda’ wanted to Had it not been for me being a week she was admitted for remain anonymous. present when her GP said he extensive tests, including her Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
28 | Rare Disease UK (RDUK) Access to Treatment
Key Findings “Growth hormone treatment is routinely prescribed in the US, but families in the 1. Trying to obtain medicines can be distressing for some patients UK have a huge battle to get this as part and families. of their children’s treatment.” 2. There is no licensed 4. treatment available for most patients with Relative of a patient rare diseases. with 18q minus syndrome 3. Some patients are informed of off-label or unlicensed medicines but often patients and families have to inform their doctor. 4. Patients and families experience inconsistencies in access to “Guidelines say it should be prescribed medicines. but the consultant will not do so, in limbo at the moment.” Patient with ataxia || Feeling like they had to battle and irreversible B12 Treatment and neurological damage doctors or PCTs to access Therapies medicines There are no effective treatments || Delays in access Key finding 2: There is or therapies available for most no licensed treatment patients with rare diseases, || Failure to access however, effective treatment can available for most transform the lives of patients patients with rare and their families and many live “We were informed in Yorkshire that diseases. in hope that a treatment will be the drug was a red drug and as such Only around one third (35%) of developed. could only be prescribed by a hospital respondents said that there is a consultant. This resulted in my husband licensed treatment for the rare “Eventually we arrived at a tertiary knowing there was a drug which would disease they are affected by. Of neuromuscular centre...and gained an help him but having to liaise between this 89% receive the licensed treatment. accurate diagnosis and appropriate drugs. a consultant and GP, a very upsetting My son’s life has been transformed by experience.” Of the remainder, a third (34%) the diagnosis and drug regime. Without Wife of a patient with responded that there isn’t a this he would have a very poor quality of myasthenia gravis licensed treatment available life - and he could have died.” whilst a further third (31%) do not know whether there is Mother of child with a licensed treatment for their Congenital Myasthenia “GPs want to protect their budgets. condition available or not. This [The] drugs the patient needs [are] very could possibly reflect a lack of expensive, so [the] GP passes the buck understanding about whether and the NHS will only prescribe the the treatment is licensed or not, Access to or it could be reflective of the drugs once condition has become so bad Medicines lack of information given to that patient [is] almost blind. I wasn’t patients about their condition Key finding 1: Trying to willing to let the condition get to that and treatment options. Many obtain medicines can point so paid to be seen privately. Total respondents elaborated they take treatments to ameliorate the be distressing for some disgrace.” effects of the condition but there patients and their family. Relative of a patient with chronic and is no treatment for the condition itself. A number of patients and family bilateral uveitis members chose to highlight the distressing experience of gaining access to medicines. This was due to: Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 29 can be a lengthy process which Key finding 3: Some “About one third of GPs will prescribe patients are informed of cause significant anxiety and [the medicine].” distress for patients and their off-label or unlicensed Relative/carer of a medicines but patients family and can have other patient with progressive and families often have knock on implications. supranuclear palsy who to inform their doctor. has to fund medicine privately One in five respondents (18%) “The delay in accessing [the drug] have been informed of off-label caused a 5 month delay in my husband’s or unlicensed medicines for return to work. Now we are fighting Other Issues their condition, although it Some patients raised the issue of was apparent from many of for benefits as his pay has run out which continuation of funding when an the responses that the original wouldn’t have happened without the unlicensed medicine which they information came not from the GP delay.” are using is given a license and or consultant but from external Wife of patient with the price to the NHS increases sources. Patient organisations multiple myeloma substantially. play a role in disseminating this information. It isn’t just appeal processes that “The [drug] really works for me so I hope cause difficulties in access. Many and pray the PCT will let me continue “I have to give my members details to patients have to persuade their take to their GP or consultant to enable clinician, who may know little taking it.” Patient with congenital him to write a script.” about the condition to prescribe the medicine. myasthenia whose Patient with systemic doctor is currently mastocytosis liaising with the PCT “It took over a year of negotiation by regarding continuation of treatment our GP and ourselves before our son’s “I have had to find information for neurologist would agree to prescribe [the myself; my doctor still doesn’t have a drug].” Other answers reflected the importance of research to develop clue” Parent/carer of patient new therapies, but highlighted Patient with with Niemann Pick Type C hypermobility syndrome concerns regarding funding: (EDS III) || A third (34%) had obtained “There is no known cure, treatment or Key finding 4: Patients the medicine by other means, medication for alkaptonuria - although and families experience most notably, having to fund we have created the AKU Society and inconsistencies in access it privately or by participating research is being carried out. Funding is to medicines in research of course difficult.” A relative/carer 50% of patients/their family 80% of patients who have been of a person with members who had not been able informed about off-label or alkaptonuria ochronosis to access off-label or unlicensed unlicensed medicines for their medicine responded that condition have been able to access they know of people with the these medicines. When asked condition in other areas that can “Rare diseases attract less funding how easy it was to access these access the medicine. Whilst the medicines the results showed a for research, therefore less is known, number of people responding to wide disparity between those who particularly about treatment.” this question was small, it does found it unproblematic on the Mother of daughter allude to the post-code lottery one hand, to those having to fund with neurofibromatosis people with certain conditions it themselves on the other: and hydrocephalus face in accessing medicine.
|| 50% of respondents indicated that it was not problematic 4. In the patient survey RDUK used the following definitions of unlicensed and off label: But An unlicensed medication is a medication without a UK product licence. These include medicines undergoing clinical trial, those awaiting UK authorisation and those that are licensed in, and imported from, another country. An off-label medication is an approved || 14% said that they had to medication that is prescribed outside the terms of the product licence. This may be in appeal to their PCT. Appeals relation to the approved age, indication, dose of frequency, route of administration or formulation of the medication. Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
30 | Rare Disease UK (RDUK) Gillian Thomas’ story Gillian Thomas, wife of Nick who has multiple myeloma – Newport, Wales
Nick was diagnosed with multiple rise after October 2009 indicating myeloma at Easter 2009. This that his cancer was active so he “bone marrow cancer” accounts also had to have two further for 1% of all diagnosed cases bone marrow biopsies. He was of cancer. The few GPs who prescribed a further course of encounter it will probably see another drug to control the only one case in their working cancer. lives. He had been diagnosed in the summer of 2008 with arthritis In January 2010, Nick was (“well, you are an ex rugby diagnosed with a hernia. This player“). When he couldn’t lift the would have required a local shopping out of the car for me we anaesthetic and a simple keyhole demanded more tests. repair as an outpatient. As I write this in October 2010 he His spine has collapsed causing needs a general anaesthetic, a him to lose 7 inches in height. He full operation and three nights has lost 6 stone in weight. in hospital to repair the damage which has occurred during the Nick was due to have a stem cell delay. transplant in November 2009 but in October he failed to produce Had the original drug been enough stem cells and needed available when it was needed the specific drug to treat this none of this additional expense condition. There is NO alternative to the NHS would have been drug or treatment available for incurred. I cannot describe our patients with multiple myeloma. emotions. This drug was available on the NHS in parts of England at the Nick had intended to return to Nick and Gillian Thomas time. It was not available in Wales, work in July 2010. This will now where we live. In England, he not happen until January 2011. His could have paid for it privately. In sick pay has ended. Jobcentreplus Wales we could not do so. After consider that he is not seriously ill an Individual Patient Appeal it (“well you haven’t had a tumour was administered in April 2010. have you? It isn’t like you have had an organ transplant”) and “Had the original The delay of 5 months has had we have battled for every penny drug been available repercussions. Had it gone ahead of the benefit we receive. No his Hickman line would have been provision has been made for his when it was removed after the transplant; Pension contributions, putting needed none of this instead he had weekly visits for him at further risk when the the extra months from a district cancer returns. Nick is a Deputy additional expense nurse to have it flushed. In Headteacher. Instead of claiming January, it became infected and benefits for these months he to the NHS would he spent three weeks in hospital should have been contributing to have been incurred. with intravenous antibiotics society. and intensive nursing. Since I cannot describe our an incorrect line was fitted in emotions.” its place he had a total of six unnecessary surgical procedures. His paraprotein levels began to Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 31 Annex 1: List of conditions represented in the survey
Patients and families affected by the following rare conditions responded to the survey:
Single conditions || Cerebellar ataxia || Erdheim-Chester disease || 18q minus || Cerebral palsy || Erythropoietic protoporphyria || Acromegaly || Charcot-Marie-Tooth syndrome || Fragile X syndrome || Acute intermittent porphyria || Children’s interstitial lung || Gorlin syndrome disease (chILD) || Addison’s disease || Haemophagocytic || Chromosome 4q deletion lymphohistiocytosis || Adrenoleukodystrophy (13.1-21.2) (ALD) || Haemophilia || Chronic inflammatory || Adrenomyeloneuropathy demyelinating || Harlequin ichthyosis polyneuropathy || Agammaglobulinemia || Hashimoto’s encephalitis || Common variable || Alagille syndrome immunodeficiency || Hereditary angioedema
|| Alkaptonuria || Congenital myasthenia || Hirschsprung’s disease
|| Alpha-1 antitrypsin || Congential hypopituitarism || Histiocytosis deficiancy || Congential lung surfactant || Huntington’s disease || Ataxia telangiectasia deficiency || Hyper parathyroid jaw || Bardet Biedl syndrome || Cushing’s disease tumour syndrome (HPT-JTS)
|| Becker muscular dystrophy || Cyclical cushing’s syndrome || Hypermobility syndrome
|| Behcet’s syndrome || Cystinosis || Hypogonadotrophic hypoganadism || Beta keto thialase defecit || Degos disease || Hypopituitarism || Birdshot chorioretinopathy || Distal spinal muscular atrophy (adult onset) || Ichthyosis bullosea of || Bullous ichthyosis siemens || Duchenne muscular || CD 40 Ligand PID dystrophy || Ichthyosis lamellar
|| Centronuclear myopathy || Ehlers-Danlos syndrome || Ichthyosis vulgaris
|| Cerebal vasculitis || Epidermolytic || Ichthyosis-Sjogren (Larsson hyperkerotosis Syndrome) Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
32 | Rare Disease UK (RDUK) || Infantile Batten’s disease syndrome || Turner syndrome
|| Interstitial lung disease || Panhypopituitarism || Uveitis chronic and bilateral || Juvenile Batten’s disease || Paroxysmal nocturnal haemoglobinurea (PNH) || Von Hippel-Lindau disease || K.I.D. Syndrome || Peroneal muscular atrophy || Von Willibrand’s disease || Kabuki syndrome || Perthes disease || West syndrome || Lambert-Eaton myasthenic syndrome (LEMS) || Pitt-Hopkins syndrome || Williams syndrome
|| Lamellar ichthyosis || Pompe disease || Wilson’s disease
|| Langerhan’s cell || Prader-Willi syndrome || Worster-Drought histiocytosis Syndrome || Primary ciliary dyskinesia || Laurence Moon Bardet || X linked ichthyosis. Biedl syndrome || Primary immune deficiency
|| Lennox Gasteau Syndrome || Primary lung cancer with secondaries || Lowe syndrome Multiple || Progressive supranuclear || Macrocephaly capilary palsy (PSP) conditions malformation (M-CM) || 18 p deletion/Monosomy 18 || Proteus syndrome || Malignant histiocytosis || 1q21.1 micro-deletion || Rare chromosome deletion which has caused autism, | | Metaphyseal epilepsy, severe learning || Relapsing polychondritis chondrodysplasia disabilities & severe challenging behaviour || Migrating partial epilepsy || Rett syndrome of infancy (MPEI or MMPSI) || Severe haemophilia A || Adams Oliver syndrome, apnea, cutius aplasia, skull || MPS III A (Sanfilippo defect, 6mm ASD, wet syndrome) || Sheehan’s syndrome lungs, pulmonary arterial || Myasthenia gravis || Sickle cell anaemia stenosis, abnormal feet/ hands, aboundant toes, || Netherton syndrome || Simpson Golabi Behmel webbed toes syndrome || Neurofibromatosis and || Addison’s; neutropenia; hydrocephalus || Single system LCH autonomic disfunction
|| Niemann-Pick disease type B || Spinal muscular atrophy || Behcet’s Disease, Fibromyalgia, || Niemann-Pick disease type C || Stickler syndrome Osteoarthritis, degenerative disc disease, || Non-bullous eritherderma || Systemic mastocytosis IBS, gastritis ichthyosis || Tar syndrome || Bilateral perisylvian || Noonan syndrome polymicrogyria, epilepsy, | | Thyroid cancer global developmental || Obliterative bronchiolitis delay, talipes || Trichorihinophalangeal || Ocular myasthenia gravis syndrome type I || Bladder exstrophy & epispadias || Olliers disease/Maffucci || Tuberous sclerosis Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
Rare Disease UK (RDUK) | 33 || Born with thyroid not primary ciliary dyskinesia || RAS, ADHD, sleep disorder working, caused epilepsy, deafness and ataxia at || Lymphocyctic hypothesitis || Relapsing polychondritis, different stages of live and Guillain Barre lupus, sjogrens syndrome, syndrome osteoporosis, vasculitis, || Central core myopathy, depression, anorexia cleidocranial dysostosis. || Myasthenia gravis, neuromyotonia, Morvan’s || Stiff Man syndrome, type 1 || Chraniopharyngioma syndrome diabetes, hypothyroidism brain tumour, diabetes insipidus, hypopituitariasm, || Myasthenia gravis and || Systemic sclerosis with fibromyalgia, adult growth chronic fatigue syndrome associated microstomania, hormone deficiency severe Raynaud’s || Nail patella syndrome and || Connective tissue disease, hypermobility syndrome || Terminal disease secondary adrenal destroying brain and nerve insuficiency, arachnoid cyst || Narcolepsy with Cataplexy functions near pituitary gland || Neurofibromatosis and || Tetrology of Fallots & Di- || Craniopharygioma hydrocephalus George syndrome resulting in panhypopituitarism || Oculopalatal tremor and || Townes Brocks syndrome cerebellar ataxia and atrial septal defect || Craniopharyngioma, diabetes insipidus, || Ollier’s disease and || Townes Brocks syndrome, hypoppitunitarism, Maffucci syndrome chronic renal failure, gut hypothyroidism motility disorder, ASD || Pachyonychia congenita, || Ehlers-Danlos syndrome, cataplexy, narcolepsy, || Tuberous sclerosis and postural orthostatic Ehlers-Danlos syndrome epilepsy tachycardia syndrome, || Papillary thyroid cancer, Raynaud’s syndrome || Undiagnosed disease of folicular variant and either genetic origins - specific || Erythromelalgia and ‘side effects’ or other gene not yet singled out. undiagnosed condition(s) undiagnosed condition History of 3 other genetic cancers over last 15 years. || Familial hemephlegic || Paraneoplastic limbic migraine type2 with encephelitis with small cell || Williams syndrome, autism, cerebellar ataxia lung cancer suspected ADHD
|| Familial partial || Pierre Robin syndrome, lipodystrophy (Dunnigan- cleft palate, bi-lateral Kobberling), Lamin A/C talipes, multiple epiphyseal Mutation/PPARG dysplasia, hypermobile dislocating joints || Heart defect, repeated sinus, ear & chest infection, || Pituatary adenoma, coughing adrenal insufficiency, hypothyroidism || Hypermobility syndrome and Raynaud’s and possible || Pituitary tumour, fibromyalgia craniopharyngioma,
|| Infantile spasms || Prader-Willi syndrome, polmicrogyria oculormotor tourette syndrome apraxia global || Proxsymal tonic upgaze development delay scoliosis and episodic idiopathic || Kartagener’s syndrome and vertical nystagmus Experiences of Rare Diseases: An Insight from Patients and Families and Patients from Insight An Diseases: Rare of Experiences
34 | Rare Disease UK (RDUK) Experiences of Rare Diseases: An Insight from Patients and Families
Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk
By Lauren Limb, Stephen Nutt and Alev Sen - December 2010
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