June 21 is Global Motor Neuron Disease Awareness Day

10 minute read

Imagine a terrifying rollercoaster ride where every turn and loop brings you closer to death and you can’t get off. That is the theme of our latest campaign. We portrayed the devastating effects of motor neurone disease as a rollercoaster ride and showed how it takes over lives in our film ‘The Ride’ #TakeOverMND

June 21 marks the day to raise awareness of Motor Neuron Disease (MND). There are several rare diseases classified as Motor Neuron Diseases – Hereditary Spastic Paraplegia (HSP) and Primary Lateral Sclerosis (PLS) both share clinical similarities with the most recognised form of MND – Amyotrophic Lateral Sclerosis (ALS, a.k.a Lou Gehrig’s Disease, named after the American baseball player who died from MND aged 38). The world-famous physicist, the late Stephen Hawking suffered from MND. To date there is no cure.

I have Hereditary Spastic Paraplegia (HSP). Over the past two years I have ‘met’ hundreds of people with all forms of MND, on Facebook groups and forums across the globe. Those of us with HSP and PLS keep on going: often in constant pain, with increasing spasticity, weakness, and a host of other neurological issues – it is the ‘gift’ that keeps on giving* (*sarcasm alert!) But one of the saddest things of being part of this global MND community is seeing the ever increasing posts informing us of another member’s death from ALS. ALS is the one we hope we never progress to – it is, as the video above demonstrates – ‘a terrifying roller-coaster ride where every turn and loop brings you closer to death and you can’t get off ‘.

Someone – a complete stranger – asked me a while back why I use a crutch. At the time I was newly diagnosed with HSP, I was unaware that it was classed as a MND, and didn’t really know how to describe it. For want of a better description, I said that it’s a rare neurological disease with symptoms like Multiple Sclerosis (MS). The woman responded acidly that she has a relative with MS and I should be grateful I don’t have that. To say that stung a bit is an understatement and, as I have found out over the past year, it is a common response that ill-informed or insensitive people say when confronted with someone with a serious – yet unheard of – disease.

But, I can say with all honesty that I am grateful every day that I do not have ALS – my heart goes out to those suffering from it, and all those who care for them. And as for the nasty woman? I hope she’s constantly grateful she doesn’t have what I have, but more importantly, she doesn’t have what some of my friends across the world are dying from.

We desperately need a cure for MND. Medical research is progressing at a huge rate; we are seeing incredible new genetic editing techniques that may just cure this awful disease. It might not be in time for many of us but it will happen for those in the future!

However, the main issue is awareness – what is a MND? Do you know what it is? What it does to us?

Neals.org describe the MNDs succinctly:

Motor Neuron Diseases (MND) are a group of neurological disorders that affect motor neurons in adults and in children. Motor neurons are specific types of cells that control voluntary muscle activities such as speaking, walking, and breathing. In adults, symptoms of these disorders often appear after age 40, while in children – particularly in inherited or familial forms of the disease – symptoms may be present at birth. Motor Neuron Disease generally refers to the diagnosis of Amyotrophic Lateral Sclerosis (ALS), or Lou Gehrig’s Disease. In the UK, Motor Neurone Disease refers to both ALS specifically (the most common form of disease) and to the broader spectrum of motor neuron diseases, including Primary Lateral Sclerosis (PLS) and Hereditary Spastic Paraplegia (HSP).
Amyotrophic Lateral Sclerosis (ALS) is a rare disease, occurring in about 2 out of 100,000 people. People with ALS experience progressive weakness in muscles responsible for movement, speaking, swallowing, and breathing. These symptoms are due to dysfunction and death of motor neurons, disconnecting them from their target muscles. Muscles that are disconnected from their parent motor neuron become small (“atrophy”) and exhibit spontaneous twitching (“fasciculations”). People with ALS also may develop stiffness, called “spasticity”, which is also do to the death of motor neurons. Sensory functions – such as sight, smell and taste – remain intact, and significant pain or numbness are not typical. About 25% of people with ALS will also develop abnormalities in cognition and behavior termed dementia. The current treatment of ALS is focused on managing symptoms and maintaining strength and the best possible quality of life, as there is no cure for the disease.
Primary Lateral Sclerosis (PLS) is a rare form of motor neuron disease affecting the upper motor neurons only, resulting in increasing muscles stiffness (“spasticity”) and weakness. PLS progresses more slowly than ALS, and unlike ALS, PLS does not cause muscles wasting, as spinal motor neurons or lower motor neurons stay intact. However, some people who initially appear to have PLS will, with time, develop weakness and muscle loss, transforming the diagnosis to ALS. PLS does not usually run in families and the age of onset is generally between 35 and 66 years of age. The treatment of PLS is focused on symptom relief, as nothing is available at this time to prevent, slow, stop, or reverse the disease.
Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders whose primary symptoms are progressive muscle weakness and increased muscle stiffness (spasticity) that usually starts in the legs. HSP is identified by difficulty walking due to increasingly weak and stiff muscles. Initial symptoms may include difficulty with balance, and, as the disease progresses, canes, walkers, or wheelchairs may be required. Other common symptoms of HSP are hyperactive tendon reflexes, involuntary muscular contractions and relaxations (known as clonus), and congenital foot problems such as pes cavus (high arched foot). While HSP usually runs in families, even within the same family the severity of symptoms and the exact age of symptom onset can differ. Treatment of HSP is focused on symptom relief, as no treatments are available at this time to prevent, stop, slow, or reverse the disease.
‘About ALS and Motor Neuron Disease’ Northeast ALS Consortium (NEALS) https://www.neals.org/

If you have read thus far – thank you! And I ask that next time you want to donate to charity, or raise money for a good cause, please consider the following charities – they are all working so hard to raise money for medical research into treatments for ALS, PLS and HSP, but they also help those of us with MND live as long and as comfortably as we can, until a cure is found.

MND Association https://www.mndassociation.org

HSP Support Group (UK) https://www.hspgroup.org/

Spastic Paraplegia Foundation https://sp-foundation.org/

HSP Research Foundation (AUS) https://hspersunite.org.au/

Uncomfortably Numb – the possible complications of anaesthesia and HSP/PLS

Is anaesthesia a problem for someone with HSP [hereditary Spastic Paraplegia]? This was a question I needed an answer to when I was told that I may need surgery for the spinal cyst I have. Blank looks, eye-rolls or shrugs were about the sum of it. So, I turned to Dr Google and found a few clinical papers but they were on medical websites I could not access or gave only the abstract. There were others available discussing the use of anaesthesia for other neurological patients, which although in the same bracket, didn’t give me the definitive answer.

I did however, garner facts that those with neuromuscular disorders, especially with degenerative or progressive conditions, can experience adverse reactions/complications to anaesthesia; some of which at the least could exacerbate neurological symptoms, but at worst be life-threatening.

Then, a few days ago, I received an email with the latest copy of Synapse (Volume 22, Issue 2 – Spring 2019) , the e-newsletter from the US-based Spastic Paraplegia Foundation. Most of it is US-centric, so I idly flipped through – but then something caught my eye, lo and behold, the article I had been searching for – ‘Surgical Anesthesia in HSP and PLS’ (Malin Dollinger, MD.) Dollinger is a medical doctor, who also has Hereditary Spastic Paraplegia (SPG4).

Dollinger’s first sentence summed up my own findings that there is a ‘frequent lack of awareness of special anesthesia requirements in patients with HSP and PLS’ [Primary Lateral Sclerosis] So what can we do to prevent any complications? Dollinger provides an extract from a paper authored by Franco Hernández, J.A., et al. ‘Use of Sugammadex in Strumpell-Lorrain disease: a report of two cases.’ He advises us to print it out and give a copy to our primary care providers, to our specialists and crucially to those who will care for us in the event of an operation – not just the day before but when we are assessed for our pre-op. Heck, I say give it to them all to keep on file – you know we have to be our own advocates! But what do we do in an emergency, when there is no time, or perhaps the ability, to talk, to explain – should we wear a wrist band? But what would it say that would be universally understood? That’s another question…or two.

So, after a description of the different types of anaesthesia (local/general/twilight sedation etc), Dollinger explains what occurred in cases where certain types of neuromuscular blocking drugs, including depolarizing and non-depolarizing muscle relaxants, were used in patients with HSP/PLS:

This topic became vitally important when people with HSP or PLS were given general anesthesia along with a long-acting muscle relaxant, such as succinylcholine, and unexpectedly became weak and unable to work their muscles for several days or even a few weeks! Persons with PLS were especially vulnerable in this situation because their condition often includes involvement of the nerves at the base of the brain which control swallowing and breathing, both of which could be affected by the long-acting muscle relaxants. “Life support” might be needed in that situation until the muscle relaxant wears off.

This is exactly what I was concerned about should I need elected – or god forbid – emergency surgery. It also made me wonder if this could be why I had reacted badly to anaesthesia in the past. Even though I have only recently been diagnosed with HSP, I imagine it has been quietly causing havoc in me since childhood. In retrospect, so many odd symptoms seem remarkably joined-up. After a general anaesthetic at 19, I took ages to fully come round and felt dreadful for weeks; then 8 years later my dentist attempted to extract my painfully impacted wisdom teeth using a local. I was terrified but joked to the lady in the waiting room, that if she saw me being wheeled out on a trolley, she’d know things had gone belly up. Little did I know that 20 minutes later, I would indeed be rolled out past her (her face rictus with fear and local anaesthetic) unable to draw breath, with an oxygen mask clamped firmly over my numb face and my legs shaking uncontrollably in an undignified impression of a vitus dance! Four hours later, after an EMG and several cups of hot tea, I was released from A&E with the diagnosis of a ‘panic attack’. Thank god, I have never had a ‘panic attack’ like it again! Round two of teeth extraction occurred under ‘twilight’ sedation; which felt more like ‘dark night of the soul’ sedation, as once again I took some coaxing to come round and felt like s**t for the next two weeks with dizziness and an inability to walk very far’. Makes you wonder…

Anyway, I digress. I have, thanks to this timely article, got my definitive answer – there is indeed a problem with anaesthesia for those of us with neuromuscular disorders BUT armed with this knowledge – and/or a knowledgeable anaesthetist – the problematic risks can be lowered to that of a person without the disease. It is reassuring that there is some advice and guidelines out there for us but sometimes finding it takes a bit of sheer luck – or serendipity!

Some people may not think twice about having an anaesthetic, but for me – and all those with neuromuscular conditions – Dr Dollinger’s article could literally be a lifesaver.

Sources:

Read the article via the link – Dollinger, Malin, MD. ‘Surgical Anesthesia in HSP and PLS’, Synapse, Spring 2019, Vol 22, Issue 2, pgs 14-15 https://sp-foundation.org/news-resources/newsletter.html accessed 18/05/2019

Franco Hernández, J.A., et al. Use of Sugammadex in Strumpell-Lorrain disease: a report of two cases. Revista Brasileira de Anestesiologia. Vol.63 No.1 Campinas Jan/Feb 2013 https://www.ncbi.nlm.nih.gov/pubmed/24565095

If you want to know more about HSP and PLS and/or would like to donate to help research, or you are a sufferer and would like to know more about research and living with HSP/PLS, the SPF has a massive resource section – you can find them here https://sp-foundation.org/

Drowning in my diagnoses…part one

An ill-fitting box

‘…I put the word “diagnosis” in quotes because I have not yet seen that case in which a “diagnosis” led to a “cure”, or in fact to any outcome other than a confirmed, and therefore an enforced, debility.’ – Joan Didion, Blue Nights.

I spent decades wanting a diagnosis, a meaning, a reason for the constellation of symptoms that haunted my life. I traipsed back and forth to the doctors with increasing anxiety, so much so that they diagnosed me with increasing anxiety. I couldn’t make them see what I knew, what I had known for years – there was SOMETHING WRONG WITH ME. But I didn’t fit nicely into any of their boxes except one marked ‘neurotic’. A battered and worn box that had previously held many other women, with many other random symptoms that would one day manifest as something bigger, and we’d need a bigger box. So, I took up residence in the box marked ‘neurotic’ and was passed around grudgingly, each new consultant, specialist or worn out registrar would lift the lid, take one look and mark me unremarkable…just neurotic. I hate to bang the feminist drum, but women have been dealt this hand for centuries – it would be unremarkable, if it weren’t for the reason that they (doctors) were, and are often wrong.

My symptoms were seemingly random but now that I have my (two) rare diagnoses, I can see the pattern. I say I can see the pattern – I could always see the pattern, it just didn’t make sense to me – it was a Rorschach test inked into my DNA. So, I had sleep studies and brain scans and blood tests. I had electrodes glued to my scalp and seizures induced. But still no more than an eyebrow was (reluctantly) raised; my seizure was not a good enough seizure – ‘we don’t treat those ones now’ the bored neurologist said. I was put back in the box.

I wasn’t comfortable in the box; my lower back and cervical spine had been causing me pain for far too long, as had the ‘electric currents’ that shot through my thighs. My hearing was going, the tinnitus whooshed through my head; I imagined neurons lighting up like a pinball machine. Then one day, half way across the world in a tropical paradise, I noticed my left calf was disappearing – my highly toned legs looked decidedly wonky. I was duly sent to another specialist.

He sat imperiously behind the desk; a medical student banished to the back of the room, deliberately diminished by his mentor’s imperiousness. He asked for my medical history…back pain (immaterial), neck pain (irrelevant), my mum’s MS (slightly arched eyebrow), moderate deafness – he leans forward like a predatory hawk – ‘you don’t seem very deaf’, he says dismissively. I blink and carry on…depression… ‘Ah!’ he says, ‘Ah!’ says the medical student – they lock eyes knowingly and I crawl back in the box; the one marked ‘neurotic’. He says has no explanation for the disappearing calf muscle except that I must have had a crush injury at some point. I tell him I have no recollection of a crush injury of that leg at any point. He says I must have had a crush injury. The MRI shows some form of focal irritation of my gastrocnemius. No doubt from the crush injury I must have had.

Fast forward a year and I am sick of the pain and stiffness that permeates my body. Having recently won the divorce lottery, I treat myself to a full body MRI scan. The results are fairly boring except for an ‘incidental finding of a large Tarlov cyst’ on my sacrum and a ‘lumbosacral transitional vertebrae’. I do what any self-respecting researcher does and Google them both. They seem perfect candidates for my constellation of symptoms…apart from the deafness.

I now feel as if I am at last beginning to see something in that Rorschach test, and it looks remarkably like a sacrum… to be continued

On Rare Disease Day – when you hear hoofbeats, it’s definitely zebras!

That sounds bizarre, so let me explain. In the medical world a ‘zebra’ is medical slang for a ‘rare, unusual, or surprising disease or condition’. The usual quotation, frequently used in medical school, is ‘When you hear hoofbeats, think of horses, not zebras’ – which is encouraging the student doctor not to confuse common ailments with rare conditions.

On 28 February 2019 – Rare Disease Day – those of us with a rare disease are hoping to raise awareness of the difficulty of not just living with our conditions but actually getting a diagnosis in the first place. Shire states that ‘The length of time from symptom onset to an accurate diagnosis is around 4.8 years for a rare disease. The longer it takes to diagnose a rare disease, the more physicians the patient needs to see. Patients see an average of 7.3 physicians before a diagnosis is made.’

So, what is a rare disease? When we hear the word ‘rare’ we often think of rare objects – e.g. diamonds, paintings, books – and view these as special, thinking they may offer hope of riches or status. Having a rare disease offers none of these prospects. For those of use who have a clinical or genetic diagnosis of a rare disease, there is often not much hope of a cure. The majority of rare conditions are genetic by nature and only manageable in treatment.

A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
One rare disease may affect only a handful of patients in the EU (European Union), and another may touch as many as 245,000. In the EU, as many as 30 million people may be affected by one of over 6000 existing rare diseases. 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
50% of rare diseases affect children.
https://www.rarediseaseday.org/article/what-is-a-rare-disease

My diagnosis took over 30 years: I have two rare conditions – a genetic neuro-degenerative motor neuron disorder called Hereditary Spastic Paraplegia, and a symptomatic Tarlov cyst on the nerve roots of my sacrum; both debilitating, painful and unfortunately, incurable.

However, one of the hardest things is getting a diagnosis. Most of us – unless it is a very severe onset disease – spend years, if not decades, visiting our GPs with strange symptoms and events. Often we are met with a blank stare, or if they get the inkling of a zebra in the room, they may send you off to a regular consultant in the specialism who has probably never seen a case of the disease you don’t yet know you have, and so you are brushed off and signposted to another doctor…and then another doctor. I was sent from pillar to post and spent several decades feeling demeaned and dismissed. I have endured many undignified tests and been humiliated by professionals, often in front of budding medical students. But I had known from an early age that something was not right with me – I had a constellation of odd symptoms, none of which were seemingly severe or credible enough for a plethora of doctors to take seriously. I was however diagnosed with depression, IBS and ME/CFS – all of which were deemed to be under the banner of ‘neurotic female’.

Finally, after about three and a half decades, I decided to take things into my own hands. I paid for a private full body MRI scan. I had no idea what I was looking for; I was just drained and miserable from not ‘feeling right’. The report came through and an ‘incidental finding’ showed I had what was described as a ‘large Tarlov cyst’ on my spinal cord at the level of my sacrum, the bit just above the tailbone. I had experienced back and associated nerve pain for many years and especially when I was pregnant with my daughter in my early twenties. I’d also had an epidural and an induced, protracted labour. I did what any self-respecting researcher does and ‘Googled’ it…

The symptoms made sense but finding a specialist took a bit more research and I found an old article in the Daily Mail which cited a surgeon, Adrian Casey at the Royal National Orthopaedic Hospital in London. So I badgered my GP and got a referral. Meanwhile I dipped my toe into the muddy waters of online ‘support groups’. I found a Tarlov Cyst Facebook group; full of ‘cysters’ as they label themselves and all with a variation on a theme of appalling mis-diagnoses and poor treatment by the medical profession. But they all mostly had one thing in common – Adrian Casey. It seems I was on the right track.

Fast-forward several months and I am seen by Mr Casey’s fellow, who although confirming the presence of a large Tarlov cyst, seemed more interested in my reflexes and my family history of MS. Thus began my ‘diagnostic odyssey’ (a perfect phrase coined by Dr Will Evans). Appointment letters began to flood in – Neurology, Uro-dynamics, Electromyography (EMG), a SPECT CT scan, and one for a neurogastroenterologist.

First up was seeing a delightfully effusive and very witty neurologist at Queen Square in London. After examining me he declared he ‘was perplexed’, that ‘I was perplexing’. I told him it wasn’t the first time I’d been described thus but after much musing he decided that I may well have ‘hereditary spastic paraplegia/paraparesis’. He seemed very excited by the prospect, as he had only recently diagnosed one other patient with the same thing. Two ‘zebras’ in two months! I wasn’t quite as excited – I had no idea what it was but it didn’t sound promising. After further prodding he added that it is rare, progressive and incurable. I left feeling completely bemused – but it looked like I had a diagnosis. I was now to be referred to a genetic neurologist to confirm his suspicions. I of course went home and…yep, you guessed it, I Googled it. Dr Google outdid my own fears and I found HSP described thus:

Hereditary spastic paraplegia (HSP) is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons, which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages, causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs. This leads to difficulty walking. As degeneration continues, symptoms worsen. If only the lower body is affected, HSP is classified as uncomplicated or pure. HSP is classified as complicated or complex if other systems are involved. In these cases, additional symptoms, including impaired vision, ataxia, epilepsy, cognitive impairment, peripheral neuropathy, and/or deafness, occur. The different forms of HSP are caused by mutations in different genes. Inheritance varies. There are no specific treatments to prevent, slow, or reverse HSP. Individual symptoms may be treated with medications and/or physical therapy.

https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia

Soon I felt like I had been propelled into a complex game of medical ping-pong. My GP was overwhelmed by the sudden sheer volume of tests and care that I now needed; I was being sent back and forth from Manchester to RNOH and NHNN/UCL London, and combined with a breakdown in communications from all angles, it all slowly began to unravel leaving me and my GP, who was attempting to coordinate lot of this, at odds. Referrals didn’t get made; I got lost in various systems and I don’t think he really knew how to deal with a zebra. Don’t get me wrong, each and every one of the specialists I have seen have been superb in their handling of my complex case but there is only so much they can do in the short time that I am with them. I am very lucky that I have been, and still am, under the care of some of the UK’s top clinicians and have had tests that are gold-standard in the field. I was also recruited to take part in a ground-breaking project called the 100,000, Genomes Project

The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential of new and more effective treatments.
The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated. We also aim to kick-start a UK genomics industry. This is currently the largest national sequencing project of its kind in the world.
https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/

But, and it is a BIG ‘but’, basically I feel and have experienced (as have many other rare disease sufferers) that there is often no joined-up thinking and a huge lack of communication between clinicians, GPs and other care providers. There are groups such as Rare Disease UK, Genetic Alliance UK, Medics 4 Rare Diseases and individual GPs, such as Dr Will Evans, who are now doing a great job of advocating for and coordinating dialogue between patients and medical practitioners but there is a long way to go.

Most of us with rare diseases have no specialist medical teams. Whereas for more common conditions such as Multiple Sclerosis, Parkinson’s and diabetes, they will have almost immediate support in the form of a dedicated nurse or team available to them to navigate the emotional and physical minefield of being diagnosed with a serious life-altering disease. Being told you have something degenerative, progressive and incurable and then going home with no information, care or a professional ‘hand to hold’, is terrifying. Once you get over the initial shock and start dealing with the day-to-day reality of your ‘new life’ – you then have to become a proactive advocate for your own care – that is tough.

I’m lucky I guess, I am a born researcher and I love it! Being a writer and editor means you have to be a damn good researcher too. There is so much help and information out there, it’s just finding it.
So, that is what I did – that is what I do – and now I aim to share my findings with others.