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Study reveals undetected rare neurodegenerative disorder that looks like Parkinson’s disease

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A joint study by the National Neuroscience Institute (NNI) and Singapore General Hospital (SGH) has revealed that patients who have been diagnosed with Parkinson’s disease might actually have NIID instead.

NIID is a disabling neurodegenerative condition due to a gene mutation and has no effective treatment. Symptoms of NIID include dementia, Parkinsonism, poor balance, as well as numbness and weakness in the limbs.

A patient with NIID may or may not experience symptoms, depending on age and stage of disease. The severe form of NIID is usually seen in older patients, where the disease has progressed to an advanced stage.

The team studied more than 2,000 study participants, comprising healthy individuals and those with Parkinson’s disease (PD), over more than a decade. They were surprised to find NIID-causing mutations in those diagnosed with PD.

Dr Ma Dongrui, first author of the study, says: “To our knowledge, this is the first study reporting PD patients with NOTCH2NLC gene mutations as seen in NIID patients. Thankfully, they responded to PD medications better than most PD patients do. This suggests that there must be factors that can influence why some develop PD while many others develop the more severe form of NIID.”

While analysing the NIID gene, the team found a group of healthy participants who had a “milder” form of mutation. Such mutation in the NIID gene could indicate that they are at risk of developing NIID or PD. Since NIID can go undetected, a high index of suspicion may be needed even in PD patients.

Professor Tan Eng King, deputy medical director and director of research, NNI, says: “With what we know now, it might be beneficial for clinicians to be watchful of early cognitive impairment or imaging evidence that may suggest NIID in patients diagnosed with PD. As NIID is caused by a genetic mutation, it also may be worth looking out for family members of PD patients who may show signs of NIID.

“Our findings suggest that many neurodegenerative diseases overlap and may share a common etiology. Finding a common link and uncovering the reason why a similar gene mutation leads to both mild PD and a severe form of NIID can help identify new drugs for these conditions.”

Following this study, the team plans to conduct more studies to better understand the mechanism behind NIID and identify new drugs for this condition.

More research is needed to understand if the broad clinical phenotype of NIID is related to the subtle genetic differences at the NOTCH2NLC gene locus, race or other factors. Long-term follow-up of carriers of the gene mutation with PD phenotype may provide additional clues.

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Stroke survivor takes on ambassador role with rehab tech company

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Rehab technology firm GripAble has appointed stroke survivor Kate Allatt as an ambassador.

Kate suffered a rare, massive brain stem stroke at the age of 39, and then went on to develop locked-in syndrome. Doctors said she’d never walk, talk or be able to use her arms again.

But the mother of three defied all predictions, and today, she is a credible and trusted peer mentor, global influencer, and voice for stroke and locked-in syndrome survivors.

The internationally published author of three books, including the acclaimed  ‘Running Free – Breaking Out from Locked-in Syndrome’, says that her role as GripAble ambassador is founded in partnership and collaboration.

“As GripAble ambassador, I am working closely with the GripAble team, to inspire fellow stroke survivors  to be the best version of themselves, and support the occupational and physical therapists and healthcare professionals working with them.

“GripAble is a smart mobile assessment and training device that helps people with weak or weakened movement in their arms and hands after suffering a stroke. I have used and been shown lots of very expensive and inaccessible tech and robotic machines and gizmos that have been developed to support therapists and patients with their rehab, but GripAble is entirely different. It takes down the barriers, is simple to use – including at home – affordable and accessible.

“It adds the fun to rehab and recovery after suffering a stroke and the life changes that go with it.  But beyond that, GripAble really cares about the holistic health of stroke survivors and through my role as ambassador, hopes to inspire motivation in every stroke survivor – especially as we know dopamine levels, which control our motivation levels, can be affected after stroke – and encourage more and more peer mentoring.”

Kate adds: “As well as collaborating with the GripAble team, therapists, healthcare professionals and the stroke survivors too, we will be launching a number of initiatives to enhance physical, emotional and mental support. This ‘Stroke Buddy’ campaign will include regular live coaching webchats, where I will talk openly about the wider issues that affect stroke survivors, live Twitter chats, social media groups and forums, and a Stroke Buddy Group for peer mentoring and support from other stroke survivors.

“I know from my own rehabilitation and recovery following a catastrophic stroke, just how hard it is to remain motivated and focussed, and how critical the relationship between survivors and their therapists is to achieving the very best outcomes, so that stroke survivors can be the best versions of themselves, emotionally, mentally and of course physically.

“I am driven by the desire to inform, motivate, signpost and connect stroke survivors to enable them to be the best they can be, and by collaborating with GripAble as its ambassador, I can take this commitment to a whole new level, especially for people affected by weakened arms and hands following a stroke.”

GripAble has been developed over the last seven years in consultation with thousands of occupational and physical therapists and patients across multiple clinical conditions and leading academic institutions including Imperial College London and Imperial Healthcare NHS Trust.

Dr Paul Rinne, CEO and co-founder of GripAble, says: “Kate and GripAble’s aims are totally aligned. There is an obvious connection and shared objectives, visions and goals. Kate’s passion, energy, resilience and drive are compelling and irresistible, and we are motivated by the same thing – helping people to be the best that they can be.

“In particular, our mutual vision is to make rehab tech accessible and fun for the patients and their therapists too. We are keen to learn as much as we can from Kate to feed our hunger for insights and understanding of the emotional and physical challenges of stroke recovery. Kate is very goal-centred, which matches the tech and focus of GripAble, along with our commitment to tracking and recognising even the tiniest progress.

“Studies show that the more repetition and strength training a person performs, the greater their chance of restoring movement, and ultimately their independence,” adds Paul. “Physical rehabilitation is critical for patients to restore quality of life after stroke and other neurological, orthopaedic and paediatric conditions.

“In some senses, the challenge is as much mental as physical. Keeping up with a rehabilitation regime, no matter how willing you are, is a grind. It can seem as though all of that sweat and the understandable tears, may leave you thinking that it’s all for nothing and that the future is bleak. But GripAble really does have the potential to help stroke survivors – and also people living with other neurological conditions – to monitor how even the smallest steps are all contributing to their journey of restored ability.”

Kate adds: “Physical rehabilitation is critical for people to restore quality of life after suffering a stroke. GripAble is at the cutting edge of occupational and physical therapy. A smart mobile assessment and training device that connects to an app, it supports people with loss of movement in their arms and hands to train movement and grip strength that are critical to restoring their independence. At the current time, it also supports therapists who need to engage their patients in rehab remotely.”

GripAble has launched to early adopters, with a predominantly UK-based distribution, with GripAble devices currently in use in both NHS and private hospitals, clinics, and homes.

“GripAble has the unique opportunity to be used by every single person coming into contact with the healthcare system globally, measuring and recording strength from early childhood until end of life care,” adds Paul.  “This gives us the ability to not only change the face of physical rehabilitation, but also of healthcare in general.”

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Vital rehab spaces being used for storage in Scotland

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Patients are missing out on physiotherapy and rehabilitation services because vital spaces are being de-prioritised by Scottish health boards, the Chartered Society of Physiotherapy has warned.

Reports from across Scotland reveal that rehabilitation facilities are being used for storage space and meeting rooms while the pace of re-opening and re-starting services remains slow.

During this second wave of the pandemic, physiotherapy will be critical to Covid-19 rehabilitation. Physiotherapists assist Covid and “Long Covid” patients recovering from fatigue, ongoing respiratory problems, deconditioning and poor mental health. In addition, the closure of rehabilitation services means that many non-Covid patients with long-term conditions have deteriorated, and now require more rehabilitation, alongside the ongoing needs of cardiac, stroke and respiratory referrals in the community.

Despite this huge need, rehabilitation spaces in various health boards are being moved out without relocation plans and gymnasiums are being requisitioned for other purposes such as storage and meeting rooms. In a recent survey, 47% of CSP members in Scotland said reported that a loss of rehabilitation space is why services have been unable to resume. Relocation and redesign is taking place without risk assessments, with poor planning and a lack of consultation.

Kenryck Lloyd-Jones, CSP Public Affairs and Policy Manager for Scotland, said: “The reports we are receiving from across Scotland are deeply concerning. It seems that not only are physiotherapy and rehabilitation services being slow to restart, they are being moved without relocation plans, downgraded or undervalued. We recognise the challenges in health settings and the need to re-organise, but it is essential that rehabilitation services are prioritised.

“Changes require proper consultation, risk assessment and planning. It is critical that the rehabilitation needs of people are not forgotten.”

A number of patient groups are also warning of a lack of investment and undervaluing of rehabilitation. While some rehabilitation is taking place virtually, physiotherapists still need enough space and equipment to run sessions effectively.

The CSP wrote to all regional health boards last month to urge them to prioritise rehabilitation as services are re-started, stating: “The CSP is strongly advising action to address this lag in progress, not least because the post-Covid rehabilitation needs of Scotland’s communities are pressing. Local authorities and Integrated Joint Boards also need to ensure that where rehabilitation is required in community settings, that health professionals can resume services.

“With the publication of the Scottish government’s rehabilitation framework, the emphasis must return to early intervention, reducing hospital admission, early supported discharge and improved outcomes. Musculoskeletal and community rehabilitation services are essential to this.”

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Living with chronic pain

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Serious injury solicitor Alice Hall shares an insight from Lou, founder of Northamptonshire Chronic Pain Support.

Within my role as a serious injury solicitor, I often support clients who experience chronic pain after trauma and I have seen the devastating effect that can have on the life of a sufferer.

I have also seen the importance of early and specialist professional input, and that, without this, the significant risk that people’s physical and mental health can quickly spiral downwards.

But, what does it actually mean to live with chronic pain and what support is there available to sufferers?

I spoke with Lou, the founder of Northamptonshire Chronic Pain Support (NCPS) and someone living with chronic pain.

NCPS was launched in January 2018 with the main objectives of empowering those affected by chronic pain, offering support and guidance to those affected, education, and a space for sufferers to talk in a safe, positive and non-judgemental environment.

Since then, the group has been working hard to support people affected by chronic pain in various ways, including weekly group meetings, social media support and, more recently during lockdown, virtual meetings and events.

Lou’s own experience of chronic pain began following an accident at work in 2012. She has since been diagnosed with fibromyalgia and arthritis.

I spoke with Lou about her own experience with chronic pain and her plans for NCPS.Lou’s storyFrom the beginning…

“Before my accident, I was very independent. I worked full-time in a physical job, had a busy and active social life and had lots of plans with my partner. Sadly, everything changed in the blink of an eye when I suffered an accident at work and life has never been the same since.

“It was eventually discovered that I had suffered an injury to my back. At the time, the risks of surgery were deemed too great and I was advised against that route I felt left with very few options other than to rely on incredibly powerful opiate medication and I began to slip into a very dark and lonely hole.

“I had lost my job, friends and any sort of quality of life I had known it previously. I felt like I had lost control of everything in my life and it had been completely consumed by chronic pain. It got to the point that I felt suicidal and I just couldn’t see any point in carrying on.

“Seeking help and support…I was eventually referred to a chronic pain course by my GP and, although things got off to a bit of a rocky start, at the end of the course I felt, for the first time, like there was hope. I had spent time with people just like me, living with pain, but carrying on with life as best they could. It showed me a different perspective and, from there, gradually things started to improve.

“I managed to return to work, albeit part-time and in a different job. Unfortunately, things took another turn in 2016. I was then deemed an appropriate candidate for surgery, but it was unfortunately unsuccessful and actually left me in an even worse off position. I had some counselling, but felt like I didn’t really get anywhere.

“By chance, I discovered a charity called A Way With Pain that was holding meetings in my local area in the summer of 2016.

“I went to my first meeting and felt like it was a step in the right direction. NCPS…In October 2016 I decided that, in helping myself, I wanted to be able to help others, like me, who felt that they had lost everything to chronic pain.

“I could see just how much the support of sitting and talking with others who were going through similar experiences to you was comforting. I began studying and obtained a Level 2 in Listening Skills in June 2017 awarded by the Counselling and Psychotherapy Central Awarding Body.

“I continued to grow the support groups and NCPS was founded. Since the early days when there was just a handful of people attending meetings, we have grown and grown and now support a large group of people across the Northamptonshire area.

“We have also set up a Facebook group and Twitter page, which is another forum to provide support to our service users and this has been particularly vital during the lockdown. We have also had to move our face-to-face meetings to Zoom meetings.

“The future for NCPS…As someone living with chronic pain, I know all too well just how difficult it is to find the right, or any, support at times and being able to help and support others is something that I am keen to continue. In the short term, we hope to continue using technology to support our service users, both via online meetings and events, Facebook, Twitter and other social media platforms.

“I hope that our presence will continue to grow and we will be able to reach even more people who need our help and support.”

From my experience, it is fair to say that cases involving those who suffer with a chronic pain condition – whether it be fibromyalgia, somatic symptom disorder, or any other – can be complex and the importance of specialist pain management evidence cannot be understated.

Thought must also be given to what, if any, other expert evidence should be knitted together alongside pain management evidence – orthopaedic, psychiatric, physiotherapy, care, and occupational therapy.

Indeed, these cases often require a multi-disciplinary team approach when it comes to expert evidence due to the nature of many pain conditions and the multifaceted, physiological and psychiatric components.

Equally, and particularly given the often difficult experiences of Claimants in trying to access pain management support and treatment via the NHS, experts in the litigation must be encouraged to provide detailed recommendations for any treatment, and costings of the same, with interim payments proactively being sought where appropriate so that Claimants are given the opportunity to access rehabilitation on a private basis where this is necessary.

Further thought should also be given to the importance of detailed witness evidence in cases involving chronic pain. Not only should detailed statements be taken from the Claimant, but also from their family, friends, and case manager where appropriate.

Whilst in many ways the concept of chronic pain is much more widely understood and accepted than it once was, more can still be done so that parties to litigation do not underestimate the impact of chronic pain and needs of the Claimant.

Indeed, chronic pain can by its very nature be invisible, variable and often unpredictable and that can cause potentially significant evidential issues at a critical point in the litigation later down the line if those points are not addressed proactively in detail via witness evidence at the outset.

For Claimants suffering with chronic pain, early access to specialist rehabilitation and support is essential and will enable an injured Claimant to restore their life to the best possible position, and to maximise their future potential too, whether that be in terms of returning to employment, engaging in pre-injury hobbies or considering voluntary work.

Chronic pain is a very individual condition and no one person’s experience will be the same as the next, and so of course rehabilitation must be tailored appropriately and sensitively to every individual’s needs and wishes.

Injured people must be supported to explore all options that they wish, including, for example, holistic approaches alongside more traditional treatments and therapies if appropriate, as guided by expert evidence.

You can find our further information about Northamptonshire Chronic Pain Support (NCPS) at: https://www.ncpsuk.com/

Alice Hall is a serious injury solicitor at Irwin Mitchell.

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