Tag Archives: NIRDP

trumpets blowing

We had our first Annual General Meeting this week. Like a real grown up company.

We are a real company. A real charity. Doing things. Having influence.

Amongst the exhaustion and the chaos, it’s good to reflect.

RDWB patient input

We are good at building relationships. We are good at influencing. We are good at going the extra mile. We are committed and hardworking volunteers.

dublin wine & whine

Mind you, we need to get good at gathering resources, before we implode.

the day before

We didn’t even make it to the hotel without some minor crises: Ditzy D spilled coffee all over herself before we got on the train, Treasurer nearly lost a leg when the taxi pulled off as she was getting in, and Chairperson was so heavily laden with posters, leaflets and tshirts that we feared she may drop some of the sparkly stuff.

Probably because Chairperson and I had been supremely annoying in the build up to the conference, our offers of help for the afternoon set up were politely declined. This provided an excellent opportunity for window shopping or a pre party bath and snooze. (I’d hoped for the former, but enjoyed the latter.)

We had our charity first birthday party- cake, sparkles and giggling- a happy half hour of silliness before we went downstairs for grown up mingling.




Downstairs, it felt a bit like being at a family wedding- I knew some people but wanted to get to know the others; we have the same issues and concerns and will maybe know each other for years after this.

I met Jamie, featured in this video, who lives with Ehlers- Danlos Syndrome. The film is informative, but I learned much more about him, his world, and the impact of his condition, as we blathered in the bar for a bit.


Doesn’t the valuable stuff often happen round the edges? Away from the pomp and formality, where we’re relaxed and informal.

Luckily, unlike some weddings, nobody lost the run of themselves and all went to bed at a reasonable hour.

We volunteers are professional after 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.



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.