Ehlers-Danlos Syndrome and Craniocervical Instability

We were joined at that meeting by representatives from the brilliant charity Ehlers-Danlos Support UK, as well as Connor’s advocate, Natasha, all of whom are in the Public Gallery with us today and have worked closely with my team to help us to better understand the link between EDS and CCI and what that means for people with those conditions. I sincerely thank them for that.

What I have heard from Natasha, and from people across the UK who have contacted me, is that Connor’s is not an isolated case. I will share a few more experiences with the House to reveal the true scale and seriousness of the issue. I have heard from patients who, in 2017, were assessed for surgery here in the UK as part of a planned programme involving international specialist experience. At that point, there was not only recognition of this condition but a clear intention to treat it in the NHS. Yet those procedures were cancelled shortly before they were due to take place, leaving those people without care and without a pathway forward. What is most concerning is that, in the years since, we have not moved forward; in many ways, we have moved backwards.

I have heard from people who were told that their condition was life-threatening, yet were left to face that reality alone, without support and without options. From there, the trajectory becomes all too familiar: people return again and again to NHS services, searching for answers, only to be told that nothing more can be done. I have heard from people who have had to raise extraordinary sums of money in a matter of weeks—while seriously unwell—and from families who have had to leave the UK altogether to access care, only to find themselves stranded overseas as conditions worsen and costs escalate.

Even when people do receive treatment—often at enormous cost—they return home to a system that is still unable to support them, with no clear route for aftercare, rehab or specialist oversight. What is striking is not just the severity of these stories but their consistency —different people, in different parts of the country, seeing the same gaps, barriers and outcomes.

Natasha has also shared her own experience with me. Like many, she spent years seeking answers within the NHS as her condition deteriorated, only to have her symptoms dismissed. At her most unwell, she lost the ability to stand, walk and even swallow properly. When she was upright, sitting or standing, even briefly, her arms became paralysed, she lost her speech and the ability to swallow, and was also losing her vision. These are absolutely horrific symptoms.

Natasha was eventually forced to seek specialist care abroad, having travelled by air ambulance to get there, where she underwent lifesaving surgery at significant personal cost. Since returning to the UK, she has continued to face challenges in accessing the specialist follow-up and rehab that she needs. Despite everything she has been through, Natasha has worked tirelessly to support patients like her and to bring this issue to light. I place on record my thanks to her, not only for sharing her experience but for the work she is doing as an advocate for other people, such as Connor, in the same position.

One reason why patients are passed between multiple specialists, and why diagnosis is so challenging, is the lack of access to appropriate diagnostics. Current NHS pathways are designed for CCI caused by trauma, such as road-traffic collisions, but not for EDS. In cases of traumatic instability, the problem is usually visible on standard scans performed lying down, and can be assessed through established neurological pathways—including the very fusion surgery that Connor is seeking. But in EDS, the instability comes from ligament laxity and is often positional, so that when someone is upright, the head is not adequately supported by the neck. That is often not visible when patients are lying flat in a standard MRI scanner, so their scans might appear normal despite ongoing neurological symptoms. One can see how, in cases like that, diagnoses such as Munchausen can come up. That means that many patients find themselves going back and forth within the system, often ending up in A&E with chronic symptoms and then being discharged because clinicians just do not know what to do.

Symptoms can overlap with other recognised conditions, resulting in delays due to misdiagnoses and therefore missed opportunities to prevent further deterioration. There are also risks in how patients are managed during the period of instability. If instability is not recognised as a possibility, patients might be directed towards physiotherapy or exercise-based rehab, which, although well intentioned, can in some cases make things worse.

At the same time, we know that CCI surgery is already performed in the NHS, yet there is no equivalent for patients with EDS. Imagine someone with a broken arm going to A&E, but being told, “I’m sorry, we only X-ray legs.” They point to their arm, the doctor can see it is broken and they can feel it is broken, but they cannot scan it, so they have to go home—over and over. Even worse, imagine if, instead of being provided with a plaster cast, they were referred to counselling. That might seem far-fetched, but that is what patients with EDS and CCI are facing.

In the absence of an NHS route, patients are forced to take matters into their own hands, as I have said. In some cases, they might even require specialist medical transport to get abroad. Devastatingly, some find that their condition is too advanced for them to even make the journey. As I have said, there is then no aftercare, no consistent access to specialist imaging reviews and no co-ordinated rehab; many people are refused any of the care that would normally follow complex neurosurgery.

Before I conclude, I would like to reflect on what has struck me since I began working on this issue on behalf of Connor. I have lost count of the number of people who have been in touch with me from across the country, and of the conversations with hon. Members who hear similar stories from their own constituents. I have just been told that an appeal from EDS Support UK has reached almost all MPs—over 98%. That is how many of our constituents are getting in touch with us about this issue.

The conditions are often described as rare, but the truth is that for many patients they are simply rarely diagnosed. Without a pathway to diagnosis or treatment, patients with EDS and CCI are effectively invisible in NHS data. Behind every email, message and conversation is somebody trying to be heard—trying to access the care they need and live a life that many of us take for granted. I should stress that it is not easy for people living with these conditions to even do that. Many people are forced to become campaigners and lobbyists, but their energy should not be spent fighting to prove that their illness is real or to get access to basic care. They should be able to focus, as anybody should, on being believed, supported and treated.

The last time EDS was debated in this Chamber was May 2024. With the general election called within days of that debate, the follow-ups on the issues raised by Members then were not possible. My ask of the Government is simple, and it comes not from me alone, but from patients, clinicians and organisations such as EDS Support UK, and from Connor. Patients are not asking for predetermined clinical outcomes or for routine surgical intervention; they are asking for recognition that suspected CCI in EDS requires a clear, defined process for assessment in the health service.

In the short term, that means taking proportionate, practical steps to reduce avoidable harm, and making sure that access is appropriate, that diagnostic assessment happens and that a specialist opinion is given. It means being honest about where no pathway exists and providing clear guidance to avoid potentially harmful management when instability has not been ruled out. Finally, it means creating defined escalation routes with funding mechanisms where clinically necessary.

In the longer term, we clearly need an NHS diagnostic and care pathway with proper clinical governance, referral routes, specialist input and continuity of care so that access to diagnosis and treatment is based on clinical need, not the ability to pay.

“Over the years it took to get my diagnosis I felt that I was viewed as a hypochondriac or overanxious patient. The combination of multiple GP visits and not being believed had a…detrimental effect on my wellbeing and mental health. Even after diagnosis I continue to be frustrated by trying to engage with a…system that doesn’t work for people with this condition”.

A key issue highlighted was disjointed care. As EDS is a multi-system condition, every time a new body system develops an issue, the patient needs a new referral. As there is no care pathway for EDS and patients generally do not have access to a specialist, who could consider their symptoms as a whole and provide a joined-up treatment plan, that means multiple referrals, extra appointments, more travelling and more time off work—and therefore, more patients seeking private care.

My constituent Carley, who has EDS and CCI, had to fundraise and take out loans for her private surgery to relieve the pressure in her brain that was forcing the back of her cerebellum to herniate down into her spinal canal. She had been experiencing severe and progressive neurological symptoms, but was unable to access appropriate assessment and treatment through current NHS pathways. In her words:

“I developed intense pain in my head and neck that would make me physically sick, trouble standing, walking, swallowing, breathing, I was losing my vision. I was choking on food…as it was getting stuck in my throat due to my swallow reflex being affected. When I tried to lay down my skull would slide backward, and I would stop breathing. It was terrifying. I was getting intermittent body paralysis and many more equally terrifying symptoms. My bladder and bowels were not working properly & in most cases this condition then leads on to seizures. Nobody knew what it was or how to help me.”

I want to show a picture of the operation Carley had to secure her spine, because it is so shocking.

It would help all of my constituents considerably if the Department looked at developing a clear, accessible and appropriate pathway for patients. Does the Minister accept that patients with EDS and suspected CCI are in reality unable to access appropriate assessment or treatment through current NHS pathways? Will the Department commit to developing a clear, accessible and clinically appropriate pathway for those patients?

One of the most prevalent issues is diagnostic times, because it takes five to 10 years to be diagnosed. Many people will see multiple specialists and they can also initially be misdiagnosed. For example, they might be told that they have fibromyalgia, anxiety or joint hypermobility. Specialist care is important for conditions such as EDS, especially regarding rheumatology, neurology and pain management, for which waiting lists are already extensive. Delayed recognition and treatment of physical symptoms can significantly affect mental wellbeing—the impact on people’s mental wellbeing as their bodies deteriorate cannot be ignored.

Prolonged uncertainty, unmanaged pain and reduced quality of life often contribute to anxiety, depression and wider psychological distress. More must be done to ensure that we do not allow it to get to that stage, and investigations should be carried out in a timely fashion. I ask the Minister, in relation to doctors and their diagnoses, does something need to be done with our GPs, our A&Es, our surgeons and those people who patients interact with first?

This debate highlights the urgent need to do more for those living with complex and often overlooked conditions. Too many patients face long delays, inconsistent pathways and a lack of specialist support. We owe it to patients to ensure that their symptoms are taken seriously, their diagnoses are not delayed and their care is not determined by their postcode. By investing in better data, stronger specialist services and greater awareness, we can move towards a system that delivers timely, fair and effective healthcare for all.

I have one more question for the Minister: she knows that research is incredibly important—it seems to have popped up in every debate that there has been this week. What is being done, through universities and partnerships with medical companies, to ensure that we chase up that cure for EDS and ensure that any patient, wherever they are in the United Kingdom of Great Britain and Northern Ireland, have the care and treatment they want, and have it now?