Hypermobility Syndromes: Healthwatch Calderdale’s Report

Craig Whittaker Excerpts

Monday 7th October 2019 Commons Chamber

[Craig Whittaker (Calder Valley) (Con)]

Healthwatch in Calderdale, like Healthwatch organisations across England, is the voice of people in its area on health and social care matters. It tells NHS service providers and commissioners about patients’ experience of care and holds them to account, and has a say in how local services are delivered and designed.

As a very rough rule and guide at Healthwatch Calderdale, a trigger to indicate that there is a particular issue in an area of health or social care is when it receives about three complaints on the same issue at the same time. Hon. Members can therefore imagine the concern when Healthwatch Calderdale began to hear of difficult NHS experiences from a large number of adults with hypermobility syndromes, both at events and via its telephone advice service. The level of concern was so great that, for the first time since its inception, a joint piece of work was undertaken between all local Healthwatch areas across Yorkshire and Humber, with Healthwatch Calderdale taking the lead. Approximately 250 adults with hypermobility syndromes took part in the project—all relating stories of difficult NHS care. I will speak more about the findings of the report shortly, but first I want to give the House an outline of what hypermobility syndromes are.

Hypermobility is the term used to describe the ability to move joints beyond the normal range of movement—something that I have not been able to do for many, many years. Joint hypermobility is common in the general population, especially in childhood and adolescence, in females, and in people of Asian and African-Caribbean descent. In many people, joint hypermobility is not problematic at all. It can even be a bonus, especially for sportsmen or sportswomen. However, this debate is neither about athletics, nor is it about party tricks. It is about problematic hypermobility linked to chronic ill health. It is about people who experience symptomatic hypermobility that not only affects the joints, but also causes very challenging symptoms in many other body systems including the digestive system, the nervous system, the skin, the bladder, the cardiovascular system, the teeth and the immune system. It is these people who are described as having a hypermobility syndrome.

The most common of these syndromes is hypermobility spectrum disorder. Other conditions include heritable disorders of connective tissue such as Ehlers-Danlos syndrome, Marfan syndrome, osteogenesis imperfecta and Stickler syndrome. Although these are all conditions in their own rights, they are all complex, chronic conditions that are frequently associated with co-morbidities that require multi-disciplinary healthcare teams to diagnose, treat and manage.

[Jim Shannon (Strangford) (DUP)]

I thank the hon. Gentleman for giving way and for bringing this matter to the House for consideration. People suffering from hypermobility syndrome feel that they have to fight to be believed, fight to be seen, fight to be diagnosed and fight to receive treatment—they are tired of simply fighting. Does he agree that the NHS in Calderdale and further afield must do better and must believe and treat these people?

[Craig Whittaker]

The hon. Gentleman is right in a lot of what he says, but the thing about hypermobility syndromes is that they are incredibly complex. As I said earlier, things like the digestive system, the immune system and teeth can all be factors. It is not like when someone goes to hospital with a broken leg, and we know what the problem is. There are multiple complexities around this disorder, so it is difficult from a professional point of view, which I will speak about later, but he is right in much of what he says.

From the Healthwatch work on the subject, it is clear that many people—specifically those with hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder—are not receiving the appropriate NHS care, as the hon. Member for Strangford (Jim Shannon) indicated. It is not clear how many people in the United Kingdom are affected by hypermobility syndromes. Hypermobility is often misdiagnosed as fibromyalgia, osteoarthritis, seronegative arthropathy, psychogenic rheumatism, depression or chronic fatigue syndrome. I do not know about you, Madam Deputy Speaker, but after that description, I need to lie down in a darkened room. So imagine how patients with hypermobility-related problems feel when they have to battle alone with immense health problems, often for years before obtaining a diagnosis, only then to face immense difficulties in accessing appropriate NHS healthcare to manage their complex and multi-system disorders and conditions. These patients describe feelings of being let down by the system, as well as huge frustration at both the widespread lack of understanding about their condition from medical professionals and the lack of appropriate care for their condition.

[Holly Lynch (Halifax) (Lab)]

Will the hon. Gentleman give way?

[Craig Whittaker]

It would be an honour to give way to my neighbour.

[Holly Lynch]

I am grateful to my neighbour for giving way. I thank him for securing the debate and congratulate him on articulating a number of those medical conditions incredibly well. I have two constituents I am aware of who have a diagnosis of Ehlers-Danlos syndrome. I was incredibly disappointed earlier this year when the clinical commissioning group informed me that Manchester Royal Infirmary, which had been delivering a degree of care for those with hypermobility, was going to have to stop accepting tertiary referrals for that support. Not only are people struggling to get a diagnosis after years, but regional specialist care is then not available once they have received a diagnosis. We really need to address that.

[Craig Whittaker]

My hon. Friend and neighbour is right. Because there is a lack of understanding about this syndrome and because, not only at GP level but in some specialist areas, areas that do particularly well on this issue are now having to close the list to outsiders because they are becoming over-subscribed. She is absolutely right; that is one of the issues. When I get to the end of my speech, one of my recommendations, which the Minister can hopefully address, is having a regional centre for this condition.

Healthwatch’s report was published in July this year, and it focuses primarily on patient experiences. It presents the overwhelming negative NHS experiences of adults with hypermobility syndromes, and it makes for challenging reading. It is 70-odd pages, and it is not a pleasant read at all. The report took evidence from 252 people via focus groups and a questionnaire. Approximately 86% of the participants had a diagnosis of hypermobile Ehlers-Danlos syndrome, or what would now be termed hypermobility spectrum disorder. A further 13% had other diagnoses linked to hypermobility syndromes. It is precisely those people who are presently excluded from NHS specialised rheumatology services, and it is those people on whom I would like to focus this evening.

The report identifies problems with NHS care in many different areas. It highlights that people are experiencing difficulties obtaining a diagnosis: 76% of respondents indicated that obtaining a diagnosis had been challenging; 22% described the process as difficult; and a staggering 54% stated that it had been very difficult. Frequently, people described the diagnostic process as leaving them feeling depressed, alone and isolated as a consequence of the lack of understanding that appeared to be the norm among professionals. This and the level of disbelief by professionals, as the hon. Member for Strangford pointed out, have led to people doubting themselves, despite their symptoms and, of course, their experiences.

Common terms used to describe how the diagnostic process made people feel included being angry, belittled, desperate, and feeling like a liar or a fraud, and some even said they were feeling as though they were going a little crazy. By contrast, obtaining a diagnosis generated feelings of hope and reassurance, and the feeling that they had been vindicated or were relieved at having an explanation of their difficulties.

On the road to diagnosis, many tests and procedures were commonly performed—sometimes repeatedly, sometimes in isolation and sometimes in conjunction with others. Many people reported that they had had many blood tests, scans and X-rays. A number of respondents spoke of being tested exhaustively over many years. For some people, this extensive testing was a route to an eventual diagnosis and, in some cases, supported interventions, but for others, this resulted in delaying the diagnosis, misdiagnosis and delayed support. A pathway would not only be beneficial to patients, but would also reduce the costs and associated wastage to the NHS of all the unnecessary tests, which are often carried out on a repetitive basis, as they are not giving the anticipated results at the time.

Participants reported that between one and six health professionals were involved in the diagnosis. One significant theme of the responses generally was the failure of medical professionals to link together the variety of symptoms and health issues being reported and a focus on the presenting symptom only. Perhaps unsurprisingly, many participants said that they had received other diagnoses, rather than a diagnosis of hypermobility syndrome. Altogether, a staggering 62 other conditions were named during the process.

The complex and diverse symptoms resulting from hypermobility syndromes have led to many people being misdiagnosed. They were told, for example, that their symptoms were related to mental health issues or mental illness, such as depression, anxiety or stress, and this resulted in subsequent referrals to mental health services, as health professionals could not find a physical cause of the symptoms. People also reported that health professionals had ascribed the symptoms to excess weight, clumsiness or lack of physical exercise. Misdiagnosis, partial diagnosis or stereotyping left people feeling upset and patronised by health officials and led to feelings of anger, frustration, rejection and defeat.

Inadequate knowledge among health professionals was another key theme of the report, and that also emerged from the data. The majority of the respondents referred to health professionals as not aware of, not knowing about or not believing in the wide-ranging symptoms and the health and life impact of hypermobility syndromes on the patients. GPs were specifically mentioned in this regard, and rheumatologists and physiotherapists also received mixed feedback about their knowledge. Some people who had a diagnosis also talked of medical professionals disbelieving the conditions, with some being told, “It’s all in your head,” or assuming that people were just after drugs, rather than genuinely being in pain, despite the diagnosis.

Another key theme that emerges from the data is poor communication between health professionals, both between departments in the same service and between one medical facility and another. Communication between professionals is by no means consistent. Communication failures occur frequently and conversations are repeated at consultation. Again, this experience is described as exhausting and demoralising. A number of participants also reported difficulties in persuading GPs to refer them to consultants. Most people who responded to the survey said that they had either no NHS care or inadequate NHS care. The life impact of these difficult NHS experiences is significant, with people having to give up work, experiencing difficulties in education, having problems with social relationships, the breakdown of families and financial problems, too.

[Jim Shannon]

I thank the hon. Gentleman for giving way again. He outlines the case for people physically, emotionally and mentally, but it is also about the follow-on. If people cannot work, they need benefits and help. If doctors do not understand the intricacies of the health condition, how can they back up constituents’ claims for benefits? Does the hon. Gentleman sometimes become bewildered with the system?

[Craig Whittaker]

It is not I who become bewildered with the system, but the patients who are incredibly frustrated at the whole process. As the hon. Gentleman says, not just with pre-diagnosis but post-diagnosis, there is a lack of professional understanding. Unless someone has a good consultant or GP who understands the system, the things we have talked about—the frustration, pain, stress and anxiety—go on for years. The hon. Gentleman is, again, absolutely right.

Ironically, people feel that they have to manage their own cases entirely without medical support and sometimes without fully understanding it themselves, researching the condition so that they can then ask for what they think they might need. This was often stressful for the respondents, with the stress causing further problems. Some people spoke of having some NHS care, but for some people the only care they received was pain management, often without review. There are several examples of respondents being prescribed opium or strong medications, but they said it was without adequate medical support or review. In the few cases where people reported having good experiences of NHS care—there were some—this appeared to be generally after moving around the country, changing GPs or hospital specialists. This usually occurred over a long period.

It should be noted that not many people commented on social care experiences and this in itself may—there is no evidence—reflect the lack of involvement and awareness of the issues among social care staff. A few people have received some care or support via social care. The most frequently reported were aids and adaptations for the home. Some people have also been given additional support for personal care and social support.

The report details exactly what actions all the local Healthwatch organisations in Yorkshire and the Humber will take to raise the issues with local NHS service providers and commissioners. What is it that those who have experienced this poor level of care are asking for from the Government, NHS England and our strategic health authorities? I have gone through the common asks, but I have come up with five that I and the authors of the report think are probably the most important.

First, we are asking for improved knowledge and awareness of hypermobility syndromes and the related conditions among health professionals across the whole of the NHS. Secondly, we are asking for a dedicated care pathway with faster referrals and a specialist service of some form, such as a specific regional specialist centre. People felt that that would help to address the current fragmented care that many are receiving. Thirdly, we are asking for the ability to access medical support where needed for services such as physiotherapy, without the need for a new referral. Each time a course of physiotherapy is required, people currently have to go back through the process to be referred for it. Fourthly, we would like to see the use of technology, such as video or telephone appointments, to access medical professionals. This would help people to better manage fatigue by removing the requirement to be physically present at the appointment. Finally, we would like improved communication, co-ordination and information sharing between health and social care, either as part of a specialist service, as we have discussed, or simply just as good practice.

Some of those suggestions regarding better care, such as digitalisation and integrated care, fit very well with the NHS long-term plan. It is very clear, however, that other additional actions are required to improve NHS care for this group of patients. It is important to remember that the vast majority of people who responded to the Healthwatch hypermobility syndromes survey are not those who are referred to the specialised rheumatology services, which are commissioned by NHS England. They have hypermobile Ehlers-Danlos syndrome or what is known as hypermobility spectrum disorder. They are specifically excluded from the Ehlers-Danlos national diagnostic service and, at present, have very poor experiences of that NHS care, which, they report, impacts incredibly negatively on their lives.

Thank you, Madam Deputy Speaker, for your time this evening, and I look forward to hearing my hon. Friend the Minister’s response.

[The Parliamentary Under-Secretary of State for Health and Social Care (Jo Churchill)]

I congratulate my hon. Friend the Member for Calder Valley (Craig Whittaker) on securing this debate on such an important issue, and for taking the first step to bring the broader element of education and communication to the Chamber tonight by outlining the report from Healthwatch Calderdale on hypermobility syndromes. I join him in commending the work of local Healthwatches in championing the patient voice and in doing all that they do.

My hon. Friend has rightly highlighted how critical it is for those living with hypermobility syndromes to be able to obtain the right diagnosis and sometimes how challenging that is, because of the nature of all the different elements of the syndrome involved. This is also about people having their symptoms taken seriously by healthcare professionals. As he and the hon. Members for Strangford (Jim Shannon) and for Halifax (Holly Lynch) outlined, sometimes just being taken seriously is the first step on the path to accessing the relevant treatment that they need. Those professionals need to be aware of the spectrum of the condition. All those things are incredibly important so that patients can access the right care at the right time. For example, someone may access physiotherapy if they feel particularly unwell, but if they then feel like they have to go back down the snake, it can often seem like more of a fight, as the hon. Member for Strangford alluded to, so making sure that pathways are streamlined is exceedingly important.

As my hon. Friend the Member for Calder Valley will be aware, the NHS England specialised commissioning team in Yorkshire and the Humber responded to the report only last month. I gather that the specialised commissioning team and the clinical commissioning group continue to engage with Healthwatch Calderdale on the report’s findings. Ensuring that that engagement is beneficial and delivers what patients want, and that it is as broad as possible, is important. I urge both him and the hon. Member for Halifax to make sure that they are engaged with the process and with holding the CCG and Healthwatch Calderdale to account in understanding whether objectives are being met and a better service is being delivered.

We have heard from my hon. Friend that hypermobility syndromes can have devastating effects on quality of life but often go undiagnosed or misdiagnosed for many years, which also adds to the stress. This situation must improve. As he pointed out, good communication and information sharing could make a big difference to how an individual feels their journey is progressing, and I assure him that we are committed to improving the diagnosis of rare diseases and to assisting patients so that their diagnosis feels less like a fight, as the hon. Member for Strangford put it.

[Craig Whittaker]

One of the key problems is that the hypermobility syndromes are treated by NHS England as rare diseases. As we have heard, Healthwatch Calderdale has 11 complaints on the books, but if we times that across Yorkshire and the Humber, it means there are several hundred complaints, and that is only people who have complained, not people who have been diagnosed. My challenge back to the Minister is this: we keep calling it a rare disease, but is it really a rare disease?

[Jo Churchill]

The challenge with rare diseases is that they are collectively common but rare in and among themselves. As my hon. Friend articulated, there are many different elements to this syndrome that may be diagnosed as Ehlers-Danlos or a plethora of other things. That makes treating them more of a challenge and is why there has to be communication and information sharing to make it a proper pathway for an individual. Although for each life it is really challenging, 11 is not a large patient cohort. That is one of the challenges when dealing with diseases and syndromes such as Ehlers-Danlos and hypermobility syndromes more broadly.

Improving the diagnosis using cutting-edge technology is key. The genomic medicine service, which was announced last October, aims to provide consistent and equitable access to the most up-to-date genomic testing in England, which may help, and I am pleased that hypermobility syndromes are included in the national genomic test directory, which underpins this service. That may provide more of the cohesion that my hon. Friend is looking for.

As my hon. Friend points out, improving awareness of hypermobility syndromes among healthcare professionals, particularly general practitioners, is key. It is critical to ensuring better diagnosis and treatment of these conditions and is vital if we are to build trust and confidence in the system and actually help those with rare diseases. As I say, they are collectively common—3.5 million people across the UK are affected—but there is a significant gap in our understanding of their diagnosis because of the number of different ways they can present.

On raising awareness, there is always more that can be done, and we must learn from areas of good practice. For example, Ehlers-Danlos Support UK has developed a toolkit in collaboration with the Royal College of General Practitioners. I am pleased to hear that my hon. Friend’s clinical commissioning group, NHS Calderdale, has issued the links to the EDS toolkit to its GP member practices and encouraged clinicians to consider adding this topic to their learning needs, because building awareness is very much part of the answer.

Recently, a clinical update on Ehlers-Danlos syndromes was published in The BMJ. That is another excellent example of how the clinical community is working to improve knowledge and awareness and help provide positive NHS care for patients by transferring that knowledge into better diagnosis.

NHS England commissions specialised diagnostic services for hypermobility syndromes, including Ehlers-Danlos syndrome, osteogenesis imperfecta and Stickler syndrome. It is currently implementing a new “rare disease insert”, which aims to improve the patient experience through provision of a single person responsible for the co-ordination of care for hypermobility patients; I think that that was one of my hon. Friend’s constituents’ main asks. It also aims to improve the transition pathway from child to adult rare diseases services, including services for those with hypermobility syndromes.

Several centres in England deliver services for hypermobility, although, as we heard from the hon. Member for Halifax, not all of them are always accessible to everyone. They include two centres delivering complex EDS services, four delivering osteogenesis imperfecta and childhood osteogenesis imperfecta services, and a specialist centre for Stickler syndrome. Those centres help to co-ordinate specialist regional care and manage the transition to non-specialist NHS care. I did very much hear my hon. Friend’s request for a more co-ordinated service for his constituents. I encourage him to engage with his clinical commissioning group, as the idea has much merit. It could potentially secure better diagnosis and provide a better pathway for patients through discussion of the single point of contact, giving them much-needed continuity and a timeline for provision in Calder Valley and for patients more broadly.

My hon. Friend said that he thought virtual GP services would help people with hypermobility syndromes, because they would no longer have to travel all the time. He will be pleased to hear that virtual GP services are beginning to be rolled out in general practice. That means that patients will have the right to web and video consultations by April 2021, which I hope will also be of benefit.

As was announced by my colleague Baroness Blackwood this summer, we need a national conversation on rare diseases to help to inform and communicate. We will be engaging with patients, researchers and clinicians, gathering evidence, and identifying the major challenges faced in the field. We welcome the input from the hypermobility syndromes patient cohort and from healthcare professionals, and the work that they have done on the report.

Let me end by thanking my hon. Friend, who has spoken so passionately and so knowledgeably about this issue. I am grateful for the opportunity to discuss such an important report in the Chamber. We are dedicated to trying to improve the lives of all patients living with hypermobility, and, as my hon. Friend said, that is laid down in the NHS long-term plan and our implementation of the UK strategy. I hope that I have given a little reassurance to patients who are struggling for diagnosis that we are here to try to make the pathways stronger and diagnosis easier, and to improve the lives of all those affected by hypermobility syndromes and other rare diseases.

Question put and agreed to.