Rare

As someone who spends much of their time fighting the system for much-needed change, taking on new ‘endeavours’ that other people ‘like me’ have never done before, chasing a dream that has never existed until now, I knew I was born to be different.  Being the UK’s first deafblind person training to be a Doctor is, in itself, a unique path in life that I’ve somewhat found myself journeying along.  Besides the rigidity and reluctance of an ableist society, it is a rare encounter, a rare ‘thing’ for others to hear about and come across.  Hence, the looks on some people’s faces when I rock up with both a long white cane and a stethoscope are, as expected, not always ones of reassurance or optimism.  Yet, the way I see it all now, no pun intended, I am proud to be different. Yes, I stand out from the crowd, but that’s simply because I choose not to follow it.  I often tell myself, ‘if nobody like ‘me’ does anything about any of this, we’ll forever be lost at the foot of it all – forgotten, invisible, misunderstood and massively underestimated’.  At the same time though, being different, to me, has also meant being constantly picked upon at school, plucked to the side-lines, made to sit in separate places and use different entrances, exits, bathrooms, stairways.  Being told I can’t do things just because of my differences, yet doing them anyway, anything that was opposite to what I was being told to do (such as applying to Medical School, when all my teachers said “absolutely don’t”).  And now more recently, spending more of my young adult life living in a hospital, than in my own home, spending more time indoors instead of out with my friends, always having to take the longer, more complicated routes around everything, instead of the simple, ‘straight-throughs’ like the rest of my peers.  It’s no secret that I haven’t always stood out for the right reasons…

I’ve spent the past 8 months bedridden here in hospital.  Whilst it is one way of spending nearly an entire year’s worth of lockdowns, I’ve still had to juggle and adapt to a whole different level of ‘life-change’ of my own whilst here.  It hasn’t been a straightforward process, and it certainly hasn’t been easy.  It’s been a long series of many months, off and on, ups and downs, of so many doctors just scratching their heads at the bottom of my bedside before turning away again, inconsolable to the confusion and lack of answers to my own complex body.  Far too often, as has been the case for many others with unusual diagnoses, they have had psychiatry called down, utterly certain it can only all be ‘in my head’ because they can’t find any obvious answers in the short space of time they ‘look me up and down’.  My name is simply not written down in the medical textbook.  Yet.  Still, the vomiting, the collapsing, the weight loss, the paralysis,  the pain, the extreme fatigue…I was certain the missing piece to my incomplete jigsaw was elsewhere in the ‘attic box’, still waiting to be dug out of the dust, where so many others have also been lying in.  

In this time of being bedbound in hospital, so many wonderful people, friends and strangers alike, have ssent through gifts, messages, blankets and love, to my hospital ward.  Followers on my social media platforms have continued to post me cosy items, sweets, rainbows, flowers, socks, coasters, quote cards, moisturising creams.  Most of these people I have never met but their sheer generosity and thoughtfulness has eternally warmed my heart, kept my spirits afloat and boosted my morale when the grey days grow dark – and it is these people who have helped restore my faith in humanity that out there, somewhere, there is a world full of supporters, a world full of people who, instead of sticking their noses up at my differences, they are praising them and following them instead, with that same curiosity and hope I have for so long tried to equip myself with, because, as someone with multiple disabilities and chronic illnesses, kindness, at times, is something that is very rare.  Amongst these gifts, a big toy zebra came in the post one afternoon – a plush, cuddly stuffed animal with brilliantly bright black and white stripes, beady eyes, and with the scent of a sweetshop that had me holding him near.  His name was ‘Dazzle’.  For some time I wondered, firstly who sent me this loveable, huggable gift, but more so, why a zebra in particular?  What, and when, had I indicated that I had any interest or connection to receive a zebra? I had no idea why, but this person knew exactly what they were doing.  I’ve kept him propped up, and close, in the corner of my hospital bed ever since.

‘My stripes are my superpower’

I was diagnosed with Ehlers Danlos Syndrome (EDS) in November 2020, on top of other correlating diagnoses, such as Postural Tachycardia Syndrome (PoTS), other cardiovascular instabilities, gastroparesis (along with bowel dysmotility and intestinal failure), and ongoing urinary retention (still waiting to be formally diagnosed).  I had heard of EDS a few times before in the background, but as a 4thyear medical student, I didn’t know anything about it, nor had I had any sort of teaching on it either.  As for that, I was simply given the official diagnosis, confirmed very quickly at the bedside, told it was life-changing, lifelong, commonly debilitating yet incurable, and then I was left.  It was left at that and all expectation was for me to *simply* deal with it myself. Why this way, might you ask? Because not even my own doctors knew anything about this condition, this rare disease, another atypical presentation not found in the textbook and hence not even a minute-long topic brushed over at Medical School either.  Here I was, another hidden person in yet another hidden curriculum.  I suddenly felt very invisible once again…

It wasn’t until many weeks later that a Doctor I had never seen before came to my bedside.  In this time, I had already been in touch with an amazing EDS specialist, over the phone, of whom I have never met yet still to this day checks up on me, ensuring that my EDS journey is being helped forward and not abandoned. His passion alone for this ‘unheard of’ topic was inspiring me by the second to one day return to Medical School and become a Doctor like him. Yet this other Doctor who had now appeared at the bedside – I was already fed up that day and hardly felt like engaging with any more baffled healthcare professionals.  But behind the mask and full PPE I recognised this Doctor’s voice. He was a past Educational Supervisor of mine, the best one I’ve had yet – I suddenly returned to an essence of ease, at this point yearning even more to get back up, better and return to Medical School, until he passed me over a sheet of paper: ‘The EDS checklist’.  Gastrointestinal dysmotility and failure, easy bruising, extreme fatigue and chronic pain, inability to thermoregulate, cardiovascular instabilities and symptomatic hypotension, sickness and weight loss, malabsorption, urinary issues, frequent joint dislocations and reduced mobility, eye problems etc…

Lying in the hospital bed, wearing my spoons and Zebra bracelets, in support of rare diseases and chronic illnesses.

I (quite mortifyingly) burst into tears in front of him.  Written, on this simple piece of paper, were the jigsaw pieces to my entire life story – everything that even I myself had failed to interconnect before was now staring me into the face as one whole, complete answer.  My brilliant Educational Supervisor, now my equally brilliant Doctor had finally been the one to peel off all the dust from this lifelong mystery, and it felt like the bricks for every year of my life had been lifted from both shoulders.

I was given the links to the EDS webpage, support groups, helplines and community patient groups. I was told to expect often the most unexpected, as, just like one zebra’s arrangement of stripes never being identical to another, EDS does not present identically in any one patient either. As a connective tissue order, genetic and inherited, it affects multiple organ systems of the body, but that’s not to say that you’ll be affected in just one, or all, areas.  Thus, the typical EDS patient will end up under numerous specialities in numerous hospitals, over many long, ongoing years, until they receive their official diagnosis.  I, for one, can completely relate.  Various descriptions of this rare condition continued:

“When you hear hoof beats behind you, don’t expect to see a zebra”.  This is to say, don’t always expect the obvious, unless and until you’ve looked properly.  Oh how familiar this was, being the first to conquer Medicine with two sensory disabilities, being deafblind.  But never have I ever met another deaf or blind person with the same eye or ear conditions to me, despite visual and hearing impairments being ever so common and upon such a broad spectrum of extremities.  EDS, on the other hand, is considered far more rare, yet for those who do have it in common, I have met so many in such a short space of time – those who have had the same experiences of waiting many years for a diagnosis, not being believed, forever going around in circles yet never arriving at the right place.  And it is at this point then that the whole ‘zebra gift’ thing clicked.  This person really did know what they were talking about.  They knew, because they were a fellow ‘Zebra’ too, already a part of the rare, yet common, EDS family, and when lost on the lone desert plain where there’s nothing or nobody else for miles, zebras help other zebras.

Truth is, nothing is ever black on white or white on black.  Rare diseases, such as EDS and its common correlating conditions, are anything but black or white, just as we continue to wonder, is the zebra black stripes on white, or white stripes on black?  I have lived a life of complications, as well as living a life of simply being complicated, but with the creeping up of symptom after symptom, over so many years, from my early teens until now, my EDS diagnosis has been the longest, most tiresome and torturous mystery ever to be solved.  Despite being deafblind since birth, yet not even having a cause or reason for the deafblindness, I was otherwise a happy, healthy and active child, (despite the minor issues of asthma and renal agenesis on the side).  By my early teens, I was competing internationally on the GB Swimming Team, training towards the London 2012 Paralympics, then later, ski-racing on the GB Parasnowsport Team, when 1 year in hospital and multiple stomach surgeries in between changed the course a little.  It was when I started Medical School, arguably the most inconvenient yet ironic time, that my health began declining considerably.  I became increasingly fatigued, skipped more and more classes just so that I could make up for every moment of spare time to sleep off the unexplained exhaustion.  I suffered from electrolyte imbalances, seizures, arrhythmias, anaemia, respiratory arrests and metabolic crashes, (with the latter two landing me in the Intensive Care Unit 20 times over these many years).  In 2017, I ended up in hospital for many gruelling months, after (another mysterious) case of temporary paralysis, and vomiting every slightest thing I ate or drank.  I lost so much weight in this time that I was collapsing every time I moved the very slightest.  By early 2018, I was someone completely different and someone completely unrecognisable.  I was added to the 100,000 Genomes Project, a worldwide research database of rare diseases and rare people.  

It was then thanks (or no thanks…depending on how you see it), to the first lockdown of 2020 that I deteriorated so much and so quickly in that short space of time that, by late July 2020, that was it.  I collapsed. And I’ve been in hospital ever since. I knew I was born to be different, but by this point in my life, I never imagined that ‘different’ would mean this much. Whilst jammed in the limbo of nobody knowing, not even I, people just didn’t understand.  They were deaf to all hoofbeats, yet they never turned around to even see what was standing there, to see how I was.  It’s then that people – your friends, start giving up on you, stop checking in on you, when the phone lines fall silent and the patience wears thin. A major reason for my eviction back in the first lockdown, which resulted in me, a shielding, vulnerable and disabled young person, being made homeless with nowhere to go, was in fact the brewing of this (still undiagnosed at the time) illness.  Still, I thought, it’s rare for anyone to go that far in their ignorance and actions, to do what they did, just because I was different that they couldn’t even acknowledge my unusual circumstances.  But I became so much more than just that.  Each day, everything was becoming rarer and rarer. My condition, unbeknown at the time, was obviously rare.  A single good night’s sleep became rare, seeing me leave the house was rare, getting through one single day without pain or fatigue was rare.  For me to just have one normal day in my entire life became totally, categorically, undeniably rare.

I’m in a better place now, knowing, and having accepted that I am no longer just different, but more so, rare.  Yes, a lot has changed, and no, in many ways I am not the same person.  I am now fed TPN (total parental nutrition) via a permanent line in my heart, I use a catheter to urinate in, I drain and evacuate contents in a different way to ‘normal people’, and I may very well need the occasional use of mobility aids or chairs in the future.  But, if anything, it is all becoming quite a catch to my continued life story and is something I am now learning to instead embrace rather than hide away or deny.  My differences in circumstances, life opportunities, and plain old ill health, has loaded me with opportunities and life experiences that I would otherwise never of had; soon becoming the UK’s first deafblind Doctor is for instance, a very obvious one, along with being a GB athlete in two completely different sports, having been able to ski the mountains of Europe and sail the islands of France and the South Coast (these of course were all before I accepted my irreversible health-decline).  I have learnt so much about other people and been able to become a part of so many chronic illness communities (alongside my friend who gave me the gift of a big, cuddly toy Zebra those few months back), and, despite often finding myself in the centre of disability discrimination, it has given me a platform to independently fight the change where I’ve had the pleasure of guiding the gearstick for so many others out there who are ‘just like me’.  In light of all that, rare disease has shaped me – ‘rare is proud’. My rare disease has, at times, tested me – ‘rare is strong’.  But best of all, my rare disease has connected me with so many others alike, also all rare but equally the same – ‘rare is many’.  

The first time I saw myself in a mirror IN MONTHS. I currently cannot walk, so am hoisted from the bed into a wheelchair, and have to ‘stroll’ around with a catheter and drainage bag in situ. Still proud to wear my zebra attire though – t-shirt, shorts, bracelets, socks and all…

In a TED talk I delivered back in October 2019 at TEDxNHS, I touched upon a story that in itself, was a rare happening; that same, familiar story that I’m sure many of you have already heard if you’ve been a follower of my journey.  Tim, the little boy of whom I met during a commute on the London Underground; as a young hearing-aid user, he announced to his Mother and the rest of the train carriage that he wanted to be a Doctor when he grew up.  Only, his Mother just laughed, and said,

“But Tim!  How are you going to hear all the poorly people?”  A hearing-aid user myself, a proud one too, who has learnt over the many turbulent years of childhood that my hearing-aids are in fact my tool to life, I leant in and pointed to his and my hearing-aids, and said:

You can be anything you want to be.  This, is your superpower”.

My rare disease has shaped me – ‘rare is proud’. It has also tested me to my limits – ‘rare is strong’. But most of all, my ongoing illnesses has connected me with so many others – ‘rare is many’. Contending with a life of complicated illnesses is never a reason NOT to smile 🙂

Back then, my hearing-aids and long white cane were my only two superpowers, or so I thought, and quite rightly so, and it was with these that I realised, people aren’t following me because it’s these things that make me different…people follow me because I am different, but am also following my dreams at the same time too, and that combination, paving a completely separate way to the expectations of a blended, ‘samey’ society, is rare.  

Now I have a zebra in me, the power of endurance in times of sickness’ flares, the mental stamina and an ability (or unwanted gift) to easily adapt to my progressive illness, but most of all, the superpower of stripes, thanks to another rare disease I am proud to be in possession of – EDS.

I am Alexandra.  I was once born to be different.  I now take that all back.  I am Alexandra, and I was born to be ‘rare’

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