What it means to be "Rare"

Official banner for Rare Disease Awareness Day

28th February is Rare disease day. Social media is filled with the bright colours of the world wide "Rare" community celebrating and raising awareness for the myriad of different conditions. And why shouldn't we? No one else is going to raise awareness for us, and after all our battles, we deserve to be heard. To be understood. To be loved. There are more of us than you could ever imagine. More then 300 million worldwide to be precise. For a condition to be classed as rare it needs to have less than 200,000 sufferers in America and 1 in 2000 in Europe. Most are caused by faulty genes. We were born with them. They are us, and we are them.

I suffer from several, but the main two are a collogen disorder known as Ehlers Danlos Syndrome (EDS for short) and a Pancreatic disorder known as Hereditary Pancreatitis. Both have left me in agonising pain, tube fed and reliant on nurses and carers to help me with my daily needs. They impact each other too. Flares of one, often result in flares of the other. The almost constant tag teaming is exhausting and impacts every aspect of my life, all be it in differing ways. 

"Pancreas under attack"
 an original cartoon by Rosie P

Hereditary Chronic Relapsing Pancreatitis. Quite a mouthful, but very descriptive. I chose the wrong genes in conception, and as a direct result was labelled as being "failure to thrive" as a baby. Essentially, HCRP means my pancreas doesn't produce enough enzymes to break down my food, and the ones it does produce haven't been made correctly. As a result, when my food enters my digestive system, the enzymes my pancreas release start digesting the Pancreas instead. Its effects are chronic relapsing episodes of inflammation of the Pancreas, leading to pancreatic atrophy, pancreatic stones and many other nasties. During an attack I will vomit continuously for hours, blinding stabbing pain high in my abdomen going from the front to the back, radiating all over my belly. 

At aged 4 when I was first diagnosed I used to describe it as being "Here, here, here, and here" (all over the abdomen). I wasn't believed by the doctors and would cry in agony for hours despite the diamorphine syringe driver I was attached to in my hospital bed. A simple blood test from a curious young doctor saw my diagnosis rendered after a traumatic week long admission with these apparently non descript symptoms. They sat my mother down to tell her. It broke her heart. I was the youngest they had ever seen presenting with it. The disease only usually shows itself during teenage years. 

I still get attacks now, 21 years later. It's the worst pain imaginable. From a pain and relapse point of view the best I can hope for is the Pancreas "burns itself out" and becomes more scar tissue than working organ. Mines already nearly there. Only 10% working tissue. Brittle Diabetes and Pancreatic Cancer are complications I will likely need to endure in the future, but for now I wait. There is no cure, just symptom management. If I have children, I am 50% likely to give the faulty gene. Any child of mine with the condition has a 50% chance of having symptoms.

Some of the symptoms of EDS 

As for the Ehlers Danlos Syndrome, the effects of that on my body are wide spread. I have the Hypermobility Type (known as hEDS or type 3). It effects all my muscles, including the muscular organs of the bladder, bowel, heart and blood vessels, even the muscles that hold and focus my lenses in my eyes are effected. I have total bladder failure and am reliant on a catheter straight into my bladder to empty it, and wil be for the rest of my life. I am tube fed via my bloodstream as my bowel lacks the ability to move. It too is slowly falling. I suffer painful dislocations of my joints too as the lax muscles surrounding them struggle to keep my joints in place. This makes simple tasks such as opening jars, walking, writing increasingly harder. 

Like the Hereditary Pancreatitis it is a degenerative condition and there is no cure. I was diagnosed aged 21 after years of mistreatment by various doctors and medical teams. Again it took someone looking outside the box to make the formal diagnosis. Unfortunately I am not alone. On average it takes sufferers of rare diseases years of being turned away and mistreated to get their diagnosis, and many more besides to get the treatment they need. So next time you see someone hobbling about on crutches, or walking with apparent ease out of a disabled space spare them a thought. They might be battling a rare condition. There are more of us than you think.

Rare Disease Fact card by Novartis

For further information on Rare Disease Awareness Day please follow the link below.

https://www.rarediseaseday.org

Time is a peculiar mistress

I wrote this earlier last week, and had been waiting until I had the energy to draw an accompanying cartoon to publish it. But here we are, a whole week later drowning in assignment tweaking and writing, with still so little energy that no cartoon has been completed. 

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Another night shift. It's been 3 weeks since I last got more than 5 hours sleep, and it'll be another 3 weeks until the end of this permanent dehydrated and sleep deprived fog. A new life line is to be inserted. But for now, I fight to maintain my grip on my existence. I've got into a rhythm now. Tablet on. BBC iPlayer or Google Play are my new best friends. Heat pads warmed, nurse sat on my sofa pressing the buttons when my fingers start to ache. The constant alarming drives through me like a knife. Piercing. Insistent. Soul destroying.

Time has become warped. Reduced down to infusion volumes and the witching hour. Two magic numbers. I look forward with every fibre of my being to seeing the volume fed turn over to 400ml. Or the clock ticking ever onwards, until the hour hand reaches 3am, which ever happens first. Then blissful beautiful blackness and sleep.

As the days draw on, the more I notice the changes. My hips protrude like too mountain summits, separated by a desert plain. Ribs and the buttons of my spine now resemble some kind of weird skeletal xylophone, my legs fragile as matchsticks in an open fire. I hurt. Bones are sharp and even sitting on layers and layers of padded cushions doesn't alleviate the pain for long.

I hate this. I feel like I'm disappearing, and not just from a weight point of view. I feel like I'm sleepwalking through things at the moment. I'm permanently exhausted. Lips cracked from dehydration. A permanent headache from loopy electrolytes, dodgy sugars. I feel like I'm lurching from one crisis to the next. Everything is falling apart.

He lied to me one time too many. As my doctor he should at least be talking to me directly about decisions about my care, NOT passing messages through his minions, ignoring me, and then lying to my face when I confront him about it. His tentacles have reached into my home life, it's disintegrating too. Problems are being brought to light that I had no idea existed, and to be honest STILL don't know if they exist or are a manufactured way of making me feel bad. I feel lost. Confused. Angry. Scared. The situation feels unreal. Like I'm loosing my grip on my reality.

The last few weeks have been full of so much stress and angst. Severe weight loss, sleep deprivation. Add into that unexpected withdrawal symptoms and spasm inducing pain, from the GP slashing my dose of pain relief. When will it all end? Every time I think I've hit rock bottom, the ground swallows me up and spits me out once more. 

As I said, time is a peculiar mistress. It's funny what a difference a few weeks can make.

Under Pressure (Day 10 of no TPN)

I promised myself what I first started writing this blog that I would do at least one of two things:

1. Always be honest about how a situation makes me feel, no matter how unreasonable my reaction might feel.
2. To record this for myself first and others later. 

******

This post is about my mood, which at the moment can only be described as absolutely foul. Everyone and everything is unbearably frustrating and in my eyes nobody can do any right. The stimulus for this sudden and thunderous change puzzles me even more, and is completely out of line with the proportion and strength of my emotional reaction. My carer asked me what I wanted to wear tomorrow for my morning at uni and would I like a wash now as well to be woken up early for one tomorrow.. 

Immediately I felt a hot surge of anger. "And be up before even 3 hours of sleep?! I howl mentally "No I don't want a fucking wash!" The voice in my head screams, internal me leaping off the bed to shake my gorgeous carer warmly by the throat. "Fine" my mouth says coolly. Smiling, the carer bustled into the bathroom. "Rosie, do you want your shaving things". A muscle I my clenched jaw twitches. No I don't. I don't even want a wash. I feel forced. Entirely of my own making, but still real nevertheless. 

I can hear the TPN nurse busy preparing her trolley to connect me up to my torturous ever beeping pump. My heart sinks and my frustration and anger grow, like gasoline poured on flames. I  don't want my stupid pain in the arse TPN. I don't want all these people in my house constantly asking the same stupid questions over and over again. I want to scream. I just want everyone to bugger off and leave me alone. I want to get a full night sleep uninterrupted. Is that too much to ask?? Evidently so. 

As I said, completely unreasonable. I'm suddenly aware of the light bulb burning bright above my head. It's too bright. Making my eyes hurt. I resent it and want to rip it out of the ceiling and smash it into a million pieces. Woah! Talk about over kill. 

"Stop the world, I wanna get off!"
An original cartoon by Rosie P

My eyes sting and start to blur. My throat feels too tight, nose runny. My body prepares itself to cry, the normal measured response to being extremely overtired and emotional. But destructive angry me says don't you bloody dare, putting energy it doesn't have into suppression. It sees it as a sign of weakness. I know there is only blocking the dam for so long. I know letting it burst in front of someone will only attract sympathy. I can't stand all the questions, the attention. The perfect reaction for me is just for it all to be ignored, if I want to talk I will. 

The carer approaches, the commode rumbling down the hallway into the living room, water gently sloshing over the sides of the sides of the wash bowl. I hurriedly sniff and wipe my eyes. Now the rage is starting to ebb, I feel like the stuffing has been knocked out of me. I don't care what I look like at the moment. Not in the mood for anything except the sweet oblivion of sleep. Stop the world, I want to get off. 

Simple things such as washing and getting dressed when connected up to my failing life line 24 hours a day are mammoth proportioned in terms of effort. I am pinned to the bed thanks to the drip stand. I do have a rucksack, but by the time I've faffed about with that, my slim opportunity to grab clothes, wash and change my upper and lower halves would have been lost. 

I'm currently averaging 3-4 hours sleep a night, thanks to the almost constant mysterious alarming of the pump. In the morning I only wake up when the nurses are in the process of doing the morning medication and waft those heinous chlorohexadin wipes under my nose. Washing before being connected at night is not much better. By the evening, I often simply don't have the energy to wrestle the fluids through my top, change, shave, wash, moisturise etc. And also by that time I just don't care, all I want to do is to sleep. 

It's a race against the TPN nurse next door as she prepares the syringes of intravenous medication. Stressful and worrying. I can hear her opening and closing draws, as I half heartedly throw my flannel into the basin of warm water. I speed through my routine when my carer arrives back with clothes for tomorrow. The exhaustion induced rage rises again, as does the mantra "I don't care". Only, the more I say it, brown hair bouncing in angry defiance, the less I'm sure I mean it. 

The wheels of the TPN trolley rattle down the hallway, I hurriedly pull on my trousers. My carer still stands, arms full of clothes I don't want to know about. It's into this scene, arms half in to my top, hair sticking out like a bush through an arm hole, that the unfortunate TPN nurse emerges with the speed of a souped up Ferrari. "Ready to be connected?" she exclaims happily. I've been told my hard stares can melt mercury, even through a mess of hair and clothing... as if pulled by an overwhelmingly strong force, the TPN nurse backed out slowly without a word. 

Lady Sleep

Life with a Chronic illness involves a lot of waiting. Be it for new tests, or medication, or in doctors waiting rooms. Today has been spent waiting for energy that never came.

I'd promised myself that I'd get up early to start my new out of hospital routine, but when the alarm went off at 1030 as planned, I couldn't quite bring myself to wake up, so turned over to drift back into the comforting arms of sleep.

By the time I next came to, the clock had struck 1300. I leapt out of bed like a cat on a hot tin roof. Well, I say leapt. Truth is, I can't "leap" anywhere. It was more a crawl with the enthusiasm and speed of a sedated snail. My limbs felt heavy, uncooperative. Like they belonged to someone else.

I felt incredibly guilty that I'd given in and slept when I should have been awake and starting my day. My Brain was not my friend. It was muddled and foggy. Truth be told, I was wishing the hands on the clock to hurry round, counting the hours till I could wrap myself up in my favourite purple blanket and snuggle up with my hot water bottle and sleep.

"Brain Goes Sky Diving" an original cartoon by Rosie P 

But when that time does come, sleep does not. Instead my Brain is busy telling me all the things that it wants to do. Sky diving. Kayaking in Scandinavia. Exploring the Pyramid's in Giza.

Then it hits me. I cannot do those things anymore, so I mourn.

Before I know it, it's 0330 in the morning and I've not had a drop of sleep. I worry that I won't be able to get up again. The cycle will begin a new. Striving to achieve routine, yet always failing. The clock ticks. "One second less sleep". My Brain comments. The more I count the seconds, the further away from me sleep gets. My breathing quickens, panic setting in.

Just breathe I tell myself. Slowly. Focus on the cool air rushing in through your nostrils, flared and tense. Then the air leaving through your open mouth, lips pursed, the freshly warmed air tickling them. Feel your chest expand and contract.

Focus on the miracle of breathing.

Calmer, sleep starts to creep forward. She's like a shadow out of the corner of your eye. As soon as you look at her she vanishes. Gradually, with my attention focused on breathing she approaches, gently wrapping me in her warm embrace.

"Tomorrow is a new day" she whispers gently "what will be will be".

Home is where the heart is...

It's harder than you think, the transition back to "normality". Well, I say normal, the whole dropping everything out of the blue at less than a moment's notice to be transferred to hospital to stay for weeks at a time IS my normal. That transition always goes without a hitch. The first night is hard with the sudden increase in noise and light, having to always ask and wait hours for pain relief, but within a day or so it's as if I've never left.

"Sleeping" an original cartoon by Rosie P

Like slipping on an old pair of gloves. Warm and familiar. Coming back to the flat takes a lot longer. It all has an effect. The weeks of sleeping with one eye open all the time. The constant uncertainty over medication. I sleep like the living dead for the first day. Not even a nuclear explosion could wake me up.

But that uncertainty doesn't leave. It just hides. Like the monster under the bed. Lurking until you think you've settled back in to a routine, then it hits you like a tonne of bricks...

.. Usually in the middle of the night. It feels wrong lying in my own bed I the dark listening to the silence. This is my house. I'm in my own space, meds are on time, I have control of my own movement, my own light. I get my TPN reliably. I don't have to fight for the basics. So why do I feel so lost and disoriented? I should be this way when in hospital. But it's not. There I have a routine. I wake at 6, have meds and start my day as the ward comes to. 10 is when the doctors arrive. Then self enforced rest at lunch time to avoid the smells and the sounds of food. Visitors arrive at 4pm. They stay till 7. After handover at 8, it's films whilst I wait for my night time meds.

"Heart Returns Home" an original cartoon by Rosie P

Home is the unknown. The unexplored frontier. I don't know where I am. The freedom is too vast. The choice of what to do too broad. Home feels like the dream. I'm not usually here long enough to form a proper routine. These things take time. And most of mine is spent away from my castle, in a distant land. From there the grass surrounding my home and castle looks greener, more luscious. But then again, things in dreams always seem brighter and shinier than they really ever were.

Home is scary because it should feel right and it doesn't. Home takes time to adjust to. Like a tiger used to its cage, suddenly released back into the wild. There's a million and one things to do and worry about. Is nursing and care cover sorted for the week? Do we have enough medications to see us through till the next trip to the pharmacy? When is the next batch of uni work due?

Oh god uni work. I'm behind. I tried to keep up in hospital, but resistance is futile so they say. No. I must keep fighting. Home wil become home again sure enough, and a new routine will form. Change is scary. And change happens AT home in my castle. Hospital is always the same. Predictably unpredictable.

The Flat of Rosie IS where my heart belongs, even if it does take it a while to get there.

32 hours and counting: A Transport Story

"What?!" My jaw dropped. I couldn't believe my ears. This can't be happening. Not for the second day in a row. I looked at Dad, my mouth opening and closing like a fish out of water. For once, my insatiable voice had been silenced. Everything that could be said had already passed my lips. So I just sat there. In dumbfounded silence blinking back bitter, angry tears.

"Dreamer" an original cartoon by Rosie P

"I'm sorry, but we've tried contacting the bed manager, and transport won't be here before 9 tonight at the earliest. Would that be too late? It's really difficult to book for a stretcher ambulance on a weekend. Plus you have far to travel..." it was only when her voice trailed off that I became aware my eyes were throwing daggers. I snorted in disbelief, shaking my head, resisting the urge to grab her warmly by the throat.

Panic started to rise I my chest. I can't do another night. Not here, with meds so infrequently, with the constant screaming and moaning from the old lady next door. My eyes widened as another realisation hit me, like a punch in the gut. Oh god. What about my TPN?? Yesterday I got lucky as they'd over ordered my prescription, leaving me with a spare bag. The fight for fluids could take hours! My head sunk into my hands, the light stabbing my eyes like a thousand white hot needles. A migraine was brewing. The calm before the stress induced storm to come.

Sound went distant. Colour started to drain. I could hear Dad. He was talking to a gaggle of nurses: "So 10am tomorrow, for definite?" The resounding silence said it all. The cracks were beginning to show in earnest. "Your bed manager said that he'd arrange and pay for a private crew for tonight." Dad hissed, "We had even given him the name of our regular private ambulance company, only to be told that G4S have made there own arrangements. That was nearly two hours ago. So, once again, where the hell are they?!" He growled.

"Fire Breather" an original cartoon by Rosie P

"Stretcher cases are more complicated than you understand, sir." exclaimed the nurse. Dad's laugh was more like a howl. If humans could spit fire, she would have been roasted alive in a nano second. Big mistake nurse, big mistake.
"I have travelled in more stretcher ambulances than you have had hot dinners, NEVER ever has it taken this long" he seethed. "That award you have on your notice board, for your ability to organise patient discharges is clearly not worth the paper it's written on!", and with that we set about dismantling my care for the second night in a row, leaving the nurse and gawping Carer to chew wasps alone.

I felt utterly drained, as if I'd run a marathon up Everest. With Dad busy on the phone, and another nurse placing my meds back in my bedside locker, I glanced at the clock. Time was not on my side. 8 o'clock. The night shift had started to arrive for handover. Amongst them was my favourite nurse. Dropping her bag in the corridor, she made a beeline for me, embracing me in a bear hug without a word. Grateful and emotional, I squeezed back. "I'm so sorry" she soothed.

"So am I", I whimpered, tears finally running. "So am I".

Going, going... gone?

"That's not good. I can't feel the cuff." Said the specialist nurse. Her brow furrowed with concern and concentration, as her fingers moved deftly up my chest and neck probing the skin for the tell tale lump. "When did you notice the line looked different?" She asked suddenly. 

"This morning when I was getting changed, I noticed that the junction where the lumens part was outside the dressing. It wasn't in that position yesterday."

Starting to slip. Not that I knew it then...

The nurses frown grew.  She pulled off her gloves, the soft slapping sound broke the increasingly tense silence. I knew what she was thinking, it had crossed my mind the moment I first saw my line. I was the first to break the silence, "it's falling out isn't it." The words stuck in my throat. Hot tears began to form, making my eyes sting. The nurse glanced at her college, who had been hovering so close to the curtains I'd forgotten she was even there. The look they exchanged told me all I needed to know.

She nodded. "It certainly looks that way, but we won't know for sure until I've reviewed your post opp measurements and have given the line a full visual examination. I'll get the sterile measuring kit" My heart sank. Just my luck. Two days post op and the damn thing is already slipping out. I wish I'd just put up with the allergic reaction from the stat lock* after all. Anything is better than this, even red hot rashes and blisters the size of ping pong balls! And with that thought, my heart sank further. The stat lock. Oh god! Is that why it's falling out?! No, can't be. I shook my head. No. Much more likely it was this morning's nurse tugging it whilst giving meds. Thank god I held on to it!

Triumphant. Line redressed.

Lost deep in my musings, I hadn't noticed the two nurses leave until the rattle of a metal trolley barging through my closed curtains announced their return, dragging me back to earth. I landed with a bump. The metal trolley was laden. A full sterile dressing pack lay open, gloves, syringes, alcohol wipes and several measuring tapes spilling over its surface. Hands sterilised, I began to peal of the dressing covering my new life line with the same care you would afford a live grenade.

Gently taking the weight of the line with one gloved hand, the nurse carefully began her examination to decide my fate. Her other hand was a whirl of measuring tape and prodding. You could have cut the tension with a knife. I closed my eyes. Willing everything be ok? "Hmm... yes it's out by at least 3 cm. Stitches look good though" she mused. Her fingers probed deeper into my bruised and swollen tissue. The pain was sharp as a dagger. It took my breath away.

Suddenly, the roaming fingers stopped. Another hand joined the poking, it's fingers pressing slightly harder, more furtively. "Aha!" Exclaimed the nurse. Her partner was as startled as I was, jumping in surprise. "What?! What is it?!" But the nurse was on a different planet, eyes closed.

"Yes. It's defiantly there. The cuff is still in a reasonable place. It's moved, but it will still be able to do its job and tunnel into your vein over time." I couldn't quite allow myself to believe it.
"So it's still ok to use?" She nodded, smiling. The relief on her face was obvious. "And I'm still ok to go home today?!" She nodded again.

"As long as you're happy. Just make sure you keep an eye on it until the stitches come out in 5 weeks time".

I hadn't realised until then that I'd been holding my breath. Slowly I exhaled, relief seeping through me like a warm liquid until every nook and crannie was glowing. It's not often you dance with the devil and come out on top.

*A small clamp like devise that adheres to the skin, holding the line in place.