As a condition with low levels of recognition – both in society and even the medical profession – dystonia can often go under the radar, leaving many people struggling for a diagnosis and to access the services they so badly need.
Here, dystonia patient Joe shares his frustration at the wait to secure a diagnosis; consultant neurologist Dr Amit Batla discusses the lack of recognition within the NHS; and Georgina Carr, chief executive of the Neurological Alliance, highlights how speaking up collectively can make positive change
Joe was in his 40s with a demanding career as a lawyer and a background of playing football and athletics to a high standard when he was diagnosed with dystonia.
“The concept of having a movement disorder when movement is something I spent my whole life finding effortless was a shock to the system,” he says.
Initially, back in 2018, he began to have some problems with his eyes, which was misdiagnosed as blepharitis – but it was another 18 months before he was referred to a neurologist, in January 2020, when all the while his symptoms continued to exacerbate.
“I didn’t realise that the neurologist was a specialist in dementia, and I didn’t have dementia,” he says.
“I was diagnosed with a tic disorder and referred for a brain scan, but then we hit March 2020 and the pandemic came.
“My symptoms were rapidly deteriorating, to the point where I was having trouble speaking, I was even having trouble walking. I couldn’t talk, eat as I would normally, I couldn’t control movement in my face, neck, and and shoulders.
“I was a mess. But at that point if you tried to engage with the NHS, they’d say ‘Do you have COVID?’ and if you didn’t, then they couldn’t help you.
“But by this point, it had become a big problem for me because my breathing started to be affected as well. I felt totally and utterly abandoned.”
In desperation, Joe turned to private healthcare to secure a diagnosis, and was able to secure that in a matter of weeks rather than the many months he would have faced waiting in the NHS, where waiting lists in some areas are up to 18 months.
“I was told initially that the condition was treatable, and I almost started doing cartwheels thinking that meant curable,” says Joe.
“But as I’ve now come to understand, treatable isn’t the same as curable, but I’ve made a lot of progress since then. There has been no one silver bullet, but I’m making progress.”
Now back in the NHS for his treatment, Joe has botox injections every three to four months, combined with medication to control his symptoms. Happily, the exercise he has loved for so many years plays a key part in his wellbeing regime, with Joe taking part in yoga every day.
He is also still working in his role as a lawyer, although is mindful of the impact his job has on his life.
“I’m very, very careful about managing my stress and tiredness, both of which have an impact. I have also had to seek the support of my employers to change the way I work, so I’m able to contribute in a meaningful way,” says Joe.
“There have been some difficult conversations. If you’ve got MS or Parkinson’s, or other conditions which are widely known, people sort of get it.
“But if you say you have dystonia, then the conversation becomes quite difficult. If you’re a lawyer who’s unable to speak, who is unable to work very long hours, that’s very unusual. Explaining this was a difficult conversation.
“But now we’re in a place where I’m able to manage my dystonia in a way which means I can be of use to my family, friends and work.”
Consultant neurologist Dr Amit Batla said that, like Joe experienced, dystonia patients can often be put onto the wrong pathway within the NHS through misdiagnosis of symptoms.
“A lot of people with dystonia do not get a diagnosis for many years, they do not even get to see a neurologist,” he says.
“They might go to eye specialists for the blepharitis, they may be stuck with orthopaedics for the neck problems, they can very easily go under the radar. This can keep them outside of general neurology practice for at least four or five years, sometimes longer, before they actually get a diagnosis of dystonia.
“If you go to a GP with a dystonia problem, hardly any would be able to give you a clear answer on what dystonia could be. In my experience, most GPs make the first referral to the physiotherapist for the musculoskeletal aspect. A blepharitis diagnosis is very common as well.”
The lack of awareness of dystonia, both from within the medical profession and in society in general, can make the diagnosis very distressing.
“We hear from patients there are problems in how their diagnosis is conveyed, what information they’re given at the time,” says Dr Batla.
“Sometimes I have to just write it down. Every time I diagnose someone, I have to spell it out, because it’s totally unknown. It’s a very different way to communicate.
“Because I have a movement disorders clinic, I have more liberty and luxury to spend more time with patients than general neurologists would, so I can be there to answer questions, because at the point of diagnosis it often doesn’t sink in.
“Even within the medical profession, the awareness can be low. If we want GPs to be picking up this condition, we need to teach it at Medical School. At present, it isn’t even in the curriculum. Awareness among medical students is important so we can start recognising it in primary care.
“We also need to look at those delivering the therapy. A lot of physiotherapists and speech and language therapists have not been trained in dystonia. Unless they work in specialist centres, they will have some idea but not much more. It’s not a common thing and often they don’t feel confident working with dystonia. So I think training and awareness needs to come from that level.”
Waiting times are an ongoing problem, says Dr Batla, and can see patients deteriorate significantly during the period, as Joe discovered.
“I’m trying my best with my movement disorders clinic to keep the waiting times down to under six months. But for general neurology it is around a year, in most of the hospitals that I work,” he says.
“Most of the times, you’ll see someone and they’ll ask for a scan. It’s a six month wait to get a scan, and then a month just to report the scan.
“When someone gets their diagnosis, they’ll need a follow-up. But in the NHS, the follow-up waiting times are at least two to six months.
“If you suggest the patient tries this medication, then we’re looking at another six months before you see them again. And for botox, you’re looking at another six months, it’s not easy to run this service and is now very well supported within the NHS.
“That is the state of affairs we face. It doesn’t solve things for anyone in this situation. While some people, like Joe, do go private to get a diagnosis, for the vast majority of people it just isn’t feasible to continue with private healthcare for a condition like dystonia.”
As a dystonia specialist, Dr Batla sees first-hand how under-resourced dystonia support is within the NHS.
“I think there are a lot of people with dystonia who, unfortunately, have to go through a very difficult path,” he says.
“I think amidst everything happening in the NHS, dystonia is not a priority for the NHS at this moment in time, let’s be honest. There are so many issues that dystonia is falling behind, most of the neurological diseases are seeing the same.
“But I think things are changing. If you look at the power of the patient voice and the impact that can have, that can make a difference. Together, we can make a difference, I will speak up on patients’ behalf.
“Although it might seem that doctors can work better, the diagnosis can be faster, it’s a very big system issue. There is so much burden on the system that one voice has to be a strong voice, but we can make change.”
Georgina Carr, chief executive of the Neurological Alliance, echoes the need for one collective being at the heart of making change.
“Before the pandemic hit, the NHS neurology waiting list in England was at about 100,000, with about two per cent of people waiting more than a year. It’s now more than 210,000, with five per cent of people are waiting more than a year. That is a long, agonising, stressful wait,” she says.
“People undoubtedly are waiting longer, but despite this, one thing that makes me quite excited is that as a community, it feels like we’ve never actually been stronger in terms of trying to campaign for change.”
The Neurological Alliance recently delivered a petition of more than 90,000 names to Government calling for more support for the one in six people in England who live with a neurological condition. The organisation, comprising over 90 groups nationwide, also held a Parliamentary event attended by a number of MPs who had never previously engaged with them.
“We’re going in the right direction but have to speak up and out about the need for change to be made now.
“We’ve got a General Election on the horizon, which has to be held before January 2025, and based on the one in six people who live with a neurological condition, that means in England, there will be at least 12,000 people per constituency. And of course many more will be impacted as friends, family and carers.
“That’s another very good opportunity for us to get loud and speak to candidates so they’re going to be acting as advocates if they are elected.”
The appointment of a new National Clinical Director for Neurology, in Dr Niranjanan Nirmalananthan, is a very significant move in terms of the potential for neurological conditions being given greater attention, says Georgina.
“It is huge, I can’t I can’t tell you how big a deal it is,” she says.
“We lost our last National Clinical Director for Neurology back in 2016, when the post fell victim to broader administrative cuts at the time, but we lobbied incredibly hard as a community to try and reinstate this. That leadership post has greater influence within NHS England, so its existence means we have clinical representation right at the top.
“I think this is very much due to collective strength as a community and shows what we can achieve when we have one voice and speak up and out to use it.”
Joe, Dr Amit Batla and Georgina Carr were speaking at Dystonia Matters Live, the conference held by Dystonia UK. For more information on the condition and the work of the charity, visit here
