celebrating and connecting

I was exhausted and looking forward to time in the Great Wilderness of the West (a remote caravan site on top of a Donegal hill). We’d lie about together, play board games, explore beaches and generally chill out. We’d also investigate various hostelries for a few moments of internet access. I blamed the children…

I could have stayed in the caravan for ever, but it was time to pack up for the winter. Spurs Fan and Jake came home, surrounded by bedding and laundry. The girls and I moved into a hotel with a swimming pool and heat. We were at regional Irish dancing championships, and I didn’t have to drive anywhere. I could relax, and reconnect with the outside world. There were hundreds of dancers & hangers on, all of us looking for wifi. Ok, some were looking for good performances and medals, but everyone wanted wifi. It didn’t work.

I was full of excitement and disbelief. After months of delay, the NI Rare Disease Implementation Plan was going to be launched. We’d been working and lobbying and gently encouraging. I’d resorted to a little twitter nagging. The occasional Health Minister was studiously avoiding his constituency office, in case Ditsy was still there, waiting to talk to him. I wanted to shout it from the roof tops. I wanted to jump for joy. We were being listened to and involved. Huge steps forward for rare disease in NI were being announced.

And I was miles from home, with dodgy internet access.

Late at night, I saw a picture of Chair, the Health Minister (back to full time), and one of our friendly neighbourhood geneticists. Not only do we have a plan, we’re getting a Genomic Medicine Centre, a fantastic resource for speeding up diagnosis.

christine, simon, shane

“It’s happening, it’s happening, I must send a message… oh, internet down again.” I was so excited, and had nobody to share it with. The other mums nodded politely as their eyes glazed over. The girls said ‘that’s good’ and went back to practising clicks and jumps and being fierce.

By the time I got back to reliable internet, my brain was too fogged to think, or communicate, or to read anything.

Eventually, I will makes some sense of what lies ahead for us. In the meantime, a little kitchen boogie is appropriate.


no one gets left behind

“The UK Strategy aims to ensure that no one gets left behind just because they have a rare disease. We want to put patients’ needs first.”

My heart is lifted as I read those words. A policy document from government that I can agree with. An opportunity to make a difference. I want to be at Westminster today, cheering and waving for the launch of the UK rare disease strategy.

PSP: I hate it

Colleagues from the rare disease partnership travelled to Whitehall, made conference calls, drafted papers and lobbied hard. Patients and practitioners had input to this strategy. Crucially, the same people have key roles in developing the implementation plans for each of the 4 UK countries. Those plans will be launched on rare disease day, 28 February 2014. (You will read lots more about that event, never fear.)

The key areas of the strategy are:

  • empowering those affected by rare disease
  • identifying and preventing rare disease
  • diagnosis and early intervention
  • coordination of care
  • research

Sensible things. We can work on these.

We are stronger together.


you made me do it


Yes, I’m blaming you lot. You were very encouraging when I mentioned that I was taking the first steps of thinking of myself as a writer (after blogging for 2 years; I’m not the sharpest tool in the box).

Yesterday I saw a few posts referring to the Health Activist Writers Month ChallengeYvonne and Marie are always worth a read and, as ever, they got me thinking.

When I’m not sleeping, doing family things or blogging, I might just be a health activist. I spend hours every week with carers and people living with rare disease. I try to work with the health services, academics and charities to improve quality of life for families. I lobby and lecture. I ramble, rant and write.

I have no medical or scientific training. I never expected to end up here. Just by getting on with the vagaries of life, I ended up learning about rare diseases, Myalgic Encephalomyelitis and depression. I have time and an urge to communicate. I want to make a difference.


I’ve signed up to #HAWMC. I may or may not write 30 health related posts in April. By the end of the month you may all have deserted me. You could all be shouting at your screens “Stop woman!! Tell us about cushions, make up and Jake”.

This could well be one of those things I get wildly enthusiastic about for 3 minutes and then stop caring- but I’ll explain that away as a symptom of the depression, so it’ll still count. (I can do creative, sometimes.)

Bear with me Bloggy Buddies as I explore, investigate and try new things.

Of course, I may just sleep a lot.

rare disease- a way forward?

My head has been full. Anyone who follows me on twitter will have been fed up with the rambling. I’ve been struggling with Consultation on the UK Plan for Rare Diseases. Sounds exciting, eh?

Well, it ought to be. Finally, the UK government are doing something about their commitment to develop a national strategy for rare diseases- hurrah! A huge opportunity to shape services and improve lives. So why does it feel like a whole lot of nothing? The document is vague, medically focused and only available to download. So much for reaching out to already isolated groups of people and asking for what they need.

I’ve spent days and days trying to grasp on to something in the document that made sense, and in the end decided to write about what would have made things easier for my mum, and tried to connect that to the paper. Days, I tell you. Brain fog is a pain, but others without the fog have had similar issues.

People who are caring for a loved one with a rare disease. People who may have to attend a dozen appointments a week. People who are struggling. People who have young children or elderly relatives to care for. People with their own health issues. People who don’t have the luxury of days to spend trying to make sense of it all. These are the people who need the chance to use their experience to influence policy for the future.

One would nearly think that the government don’t really want to consult with people living with rare disease. They couldn’t really be just going through the motions, could they? Time for us all to shout a bit louder and make sure the policy makers don’t get the chance to ignore what we have to say. We are stronger together.