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.

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