snakes, slowly

Progressive Supranuclear Palsy is a terminal, degenerative, brain condition. There is no treatment and no cure.

My mother received this diagnosis in 2007. Surprisingly, it wasn’t a hard to hear diagnosis- we didn’t understand. We didn’t know enough to be freaked by “Progressive”. We’d never encountered neurological illness, so we still expected that there’d be something to be done. That delusion wasn’t helped by the fact that the consultant gave us the name and no other information. No fact sheet, no phone number, no website, no specialist nurse. We went home, happy to have a name. Eventually, with the help of Dr Search Engine, reality began to dawn. We found limited information and support. Before long, we learned that we were the experts- how could that be possible?

Medusa, Carravagio

PSP is like a series of snakes, active in the brain. Sleeked. Slowly, deliberately, without compassion, squeezing themselves round proteins and neurotransmitters, tangling the communication systems. Squashing the the ability of the brain to tell the body what to do. A slow onset paralysis.

Medusa, a beautiful woman transformed into a mask. Powerful and raging, affecting anyone who looked at her.

The eagle eyed reader may have noticed that my input to the Health Activist Writer’s Month Challenge has been, at best, sporadic. It seems I’m not yet beyond setting unrealistic targets. This post was in response to #HAWMC prompt 8 “If the health condition of a loved one was an animal, what would it be?”

introductions

#HAWMC day2

Introduce your condition(s) to other Health Activists. What are 5 things you want them to know about your condition/your activism?

• My mother got me interested in rare disease. Not on purpose. She had other things she wanted to be doing, but instead we all learned something about Progressive Supranuclear Palsy. The word ‘progressive’ gives a clue as to how much fun that was. I first wrote about herself in April 2011. She died 3 months later.

• PSP affects mulitple body systems and can be hard to describe without the listener drifting off (eyes, movement, speech, swallow, blah, blah, snore…) This video gives some idea of its impact.

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• There are over 6,000 rare diseases, affecting 1 in 17 of the population. In Northern Ireland, that approximates to 100,000 people- roughly the size of a city such as Derry/ Londonderry.Collectively, rare diseases are common. Unfortunately, that’s not how it feels when a loved one is mysteriously ill and no one seems to know what it is; or when they are eventually diagnosed with a disease that nobody has ever heard of.  As Eileen, who is living with a rare disease, says: “When newly diagnosed the impact on the person/ family is like a bomb going off- everyone is stunned, the air is cloudy and you can’t see the way forward. You feel stuck in time, stranded, isolated, victimised, life as you know it will never be the same. The rest of the world carries on around you, and you have to find a new way to slot back into it. This is made even more difficult because nobody explains to you how to do it, when to do it, what to do if you need help, where to go for help, how to get there, who to ask when you get there.This is even more of a problem when the condition is rare, because nobody knows about it. It doesn’t fall under any umbrella so there is no system, set of guidelines, leaflet, specialist in place that can guide you.It is a very lonely, bleak, soul destroying place to be.” 

• Although collectively rare diseases are not rare, people living with rare disease are particularly disadvantaged within the health and social care systems because of the lack of information, training or joined up services. Children born with some genetic conditions may not live to see their first birthday, others struggle to gain a name (and correct treatment) for their condition and those that are, happily, living longer than in previous years do not have access appropriate adult services. In Northern Ireland, both children and adults are living with rare disease. Many of those people do not know anyone else with the condition; nor do their neighbours, their GPs, nor their range of Allied Health Professionals. Those people are isolated and anxious, they may be receiving inappropriate treatment, and they have very limited support.  More than ¼ of individuals wait between 1- 5 years for a diagnosis, with many people receiving multiple incorrect diagnoses, and some patients waiting more than 10 years for an accurate diagnosis. The lack of awareness of rare diseases leads to some individuals receiving inappropriate medical treatment and poor social support; this may severely impact people’s quality and length of life.

• I can campaign on rare disease issues because I had to give up work due to my own chronic ill health. I have issues with fatigue, cognitive disfunction and pain. I’m unreliable, unpredictable and prone to mood swings. I volunteer my time and energy to raising awareness of rare disease issues because I can do a fair bit of that from home, in my pyjamas. Nobody need know that I am the great unwashed, in a scruffy hoody and slipper socks.

• Major life changes, loss of health (and job, plans for the future, confidence, salary etc), bereavement; it’s hardly surprising my mental health has been affected. Marian’s writing on mental health and cake is wonderful. I find there’s no rhyme nor reason to depression- there’s no easy algorithm or magic wand. I resisted medication for years and have now embraced it with great enthusiasm; it makes an incredible difference to my world and enables me to function. I muddle through.

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I’m sure you were so enthralled by the writing you didn’t notice that was 6 points…. great points, all

rare disorders without borders

Across the world, events are taking place today to help raise awareness of rare diseases. Rare diseases are everywhere. In the UK, 1 person in 17 will be affected by a rare disease during their lives. In a Northern Ireland context, that translates to around 100,000 people- or the population of Derry~Londonderry. That’s a very significant number.

At events today, there will be talk about the numbers of rare diseases, the challenges for patients and policy makers, research, and the need to work across borders. International boundaries, organisations, mind sets- whatever the barriers to effective work are, we need to overcome them.

Our conference will be live streamed from 9am GMT. If you’re awake at that hour and curious as to what all the fuss has been about, you could check it out. Fingers crossed, and the health of a willing volunteer permitting, you should be able to see it on the NIRDP site. If that doesn’t quite work out, don’t worry, I’m sure I could show you clips some time…

But I know you don’t want to miss my teeny bit- well, if you do, click away now.

(Imagine me quaking in front of 200-odd folk, all experts in their own way- patients, carers, academics, clinicians and policy makers. I’ll be distracting myself by freaking about a chip in the late night nail varnish. I will be talking too fast. If you should happen to catch me on the stream, you won’t understand my accent- use this as a guide. Subtitles, even.)

Nearly 7 years ago my late mother, then in her early 60s, was finally given a label to put on the various symptoms she’d been experiencing for a while. Unfortunately, the label was Progressive Supranuclear Palsy.  There was to be no treatment and no cure. A medical condition with ‘progressive’ in its name is not subtle.

And indeed it wasn’t subtle. It was relentless, affecting her movement, balance, speech, swallow, vision and cognitive ability. My mother died in 2011, but the whole family felt the impact of her devastating decline.

We learned about the limits of medical expertise. We learned about wheelchairs, nursing homes, and all sorts of therapists. We learned about isolation. We learned about bewilderment. We learned about despair and anguish. We learned to dread the phone ringing.

But we also learned about the power of someone saying “I know about PSP. I can help.” A connection. Someone who understood the issues, and who walked with us.

There are patient organisations represented here today with paid staff and there are those whose work is done only by volunteers. On the island there are many patients with rare disease who have no organisation to support them, because the numbers are too small, because the networks aren’t strong enough, because there are no resources. All these things are fluid, and the support can be fragile. The PSP Association had a paid worker in Ireland- a sanity saver for families- but now we don’t. Instead we have a small number of volunteers trying to gather support so we can reach out to the families walking the path that we once did.

We know that 1 in 17 of the population will be affected by rare disease at some point. We know that those people are everywhere- not just in this room, but in all our towns and townlands, in all our GP surgeries and political constituencies. Those people know about bewilderment, isolation and despair.

We need to ensure they also know about support, connections and have someone, if they’d like, to walk alongside them.

We know the value of collaboration. We know the challenges it presents. We also know what we must do- together

Problem solving, together, is how the national plans for rare disease will be finalised and implemented.

Problem solving, together, is the way to meet the challenges of the Cross Border Directive.

Problem solving, together, is the only way to reach out to patients and families, and to improve the quality of life for those living with rare disease.

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There will be questions and presentations and conclusions and packing up. There will be enormous relief.

I will be very glad to get home and lie in a darkened room for a few days.

 

that time again

What time, Speccy?

Why, dear reader, Rare Disease Day! Those of you who were around this time last year may remember videos, anxiety about an event and me practising my burble for the Health Minister…

The 2013 theme for Rare Disease Day is Rare Disorders Without Borders- particularly relevant to a small island on the far west of Europe with its own international border.

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NI Rare Disease Partnership are co hosting a joint event with the charities interested in rare disease in the Republic of Ireland. There will be Ministers, an EU bod, professors of complicated things, and examples of effective cross border health care work.

Most importantly of all, there will be patients, carers and families telling tales of living with rare disease, sharing their expertise with the Ministers, the policy makers and the commissioners. It is only by working together that we can begin to address the issues that affect us all- international boundaries are far from our only concern.

Our fabulous, dynamic, innovative event (I hope!) will be held in City Hall, Dublin on 28 February. In the unlikely event of me not having nagged at you before, and you’re interested in attending, you can register here. It will be well worth attending.

At least one of the speakers will be devastatingly gorgeous spellbinding.