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.

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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.

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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.

 

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17 thoughts on “rare disorders without borders”

  1. Very intimate, strong, inspirational: wish I could catch you delivering it live. Good luck – this is, indeed, the Good Fight. Hope today is all that you wish and more.

  2. Thank you deeply for speaking these words in particular: “We learned about isolation. We learned about bewilderment. We learned about despair and anguish.”

    I was up too late (or went to be way too early!) to be able to watch the webcast. Please do show us clips–well, show us YOURS! <:-D

    I hope you recover gently….

    1. When the clips are available I’ll link to them. My bit will be an ‘eyes on the page try not to mumble’ event, and you’ll get to see if my roots need coloured in 🙂

  3. What a wonderful photo, Fiona. I always feel so deeply with you when you speak of your mother. There isn’t any way to know what you feel, but somehow the sense of loss comes to me. I am sure you did so well, because all anyone want to hear from another speaker is authenticity, and you have that! I wish I could hear your presentation. If you ever see that it’s been archived, do let us know. It’s an important message we could all benefit from hearing. Your darkened room sounds like a good reward for pushing through! oxo

  4. This made me cry. You have written it so well. It is powerful and personal without being self-pitying. Thanks.
    I hope it went well, and you go on to speak more and more confidently.

  5. Star of the day, everyone present felt the same, enjoy your fame, and smile. I am in that same darkened room.

  6. You will be fabulous because you already are. That is such a gorgeous photo ..
    Wishing you much success with your funding … I know it is needed xx

    1. Thank you Mona! As volunteers we’ve achieved an enormous amount, but we really need to build an organisation (even a part time post) to make sure we keep on doing what we’re doing and don’t just all collapse in a heap! 🙂

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