It feels a little strange. It’s #rarediseaseday2015 and I’m at home, in pyjamas, not rushing about in a panic. I’m burbling on social media, avoiding writing a speech, but generally having a normal-ish day. It’s very odd.

For various reasons, our annual event is being held on Tuesday- the anxiety and chaos are simply delayed by a few days.

One of the top hotels on the island made our charity an offer of a splendid venue. We were delighted to accept, but the location presents its own risks in terms of turn out. We wanted to move away from the city, to bring academics, doctors and researchers close to patients, rather than making patients travel huge distances, again. To facilitate participation from folk who may not normally have the opportunity. But many healthcare professionals and managers have city based clinics, or aren’t allowed to travel outside their normal area, and may patients and families are, well, unwell. We can only try.

Ditsy and I are travelling together. The long term reader will recognise the signs of impending trouble. Goodness knows what tales there will be to tell, but there will be giggling and faffing and squabbling. The fancy hotel will not know what’s hit it.

We’ll turn up with a car full of posters and banners and popups and blu tack. I need to investigate bags of random stuff around the house to see if they contain conference essentials. We assume there will be emergency shopping. With any luck, I’ll remember to get my dress out of the dry cleaners.

I must write that speech.

It’s rare disease day, and my dress doesn’t matter.





ice buckets and forgotten people

Are you bored by the ice bucket thing yet? There’s such a lot of it about. Celebs and randomers getting wet just to make a video and announce to the world that they’re making a donation to charity. Needless, tasteless and narcissistic.

Except… it’s not any of those things.

It’s fantastic.

Until a few weeks ago, how many people were chatting about Motor Neurone Disease (ALS)? How many people were interested in rare disease? Or neuromuscular conditions? How many people were struggling to raise awareness, interest and funds for research, treatments and support?

Often compared to the #nomakeupselfie as a social media notion that went mainstream and raised  much money for cancer charities, the impact of #icebucketchallenge could be much greater. It’s an opportunity for money to go to charities and conditions that are not so well known, and not generally funded. Today the ALS Association announced that they’ve received $68 MILLION more this month than in the whole of last year. Incredible stuff, impacting on often forgotten people.

One in 17 people in Europe is affected by a rare disease. You know more than 17 people.

In Northern Ireland, over 100, 000 people are affected, roughly equivalent to a population the size of Derry/ Londonderry. Because there are over 5,000 rare diseases, numbers affected by any particular condition are small, but collectively rare disease is common. We need to take opportunities, we need to work together. That’s why we created the Northern Ireland Rare Disease Partnership (NIRDP). That’s why we volunteer hours to build relationships, to raise awareness, to support each other.

Tomorrow evening, Belfast Lord Mayor Nichola Mallon will be helping medal winning boxer Michael Conlon complete #icebucketchallenge for the Motor Neurone Disease Association. We’ll be there, cheering them on.

We know what’s it’s like. Girl1 and Girl2 stuck their feet in a basin of iced water. They were drenched by iced water. They know why the water was iced- it’s not about the fun, but the loss of sensation. They know that the shock and helplessness they experienced was temporary and therefore fun. They know it wasn’t like that for their grandmother, Herself. They know the impact of a rare neurological condition. They remember how a vibrant, busy, fiercely independent woman became bedbound, unable to do anything for herself and barely able to communicate. We all remember. So a bit of cold water is nothing to us.


Girl1 ice bucket challenge, NIRDP, PSPAJake

No ice for Jake – we’re not that mean!

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.