World Lipodystrophy Day

March 31 is World Lipodystrophy Day. This year there is an awareness video about it. I'm very proud of Cathy for stepping well out of her comfort zone and recording a clip for the film. You can watch it on YouTube.

We saw the premiere of the video a couple of days ago at the Lipodystrophy UK Patients Day held at the Hinxton Hall Conference Centre just outside Cambridge. It's the third patients day we have been to, and the second held at the lovely Hinxton Hall venue. 

Lipodystrophy is a medical condition where people have an abnormal lack of adipose tissue under their skin - this is the part of the body where fat cells are stored. Some people have no capacity to store fat at all, and for others it means fat is stored in unusual places, usually around the torso while legs and arms are comparatively thin. Most types of lipodystrophy are caused by genetics, but sometimes the condition is 'acquired', for example, after illness. 

The Lipodystrophy UK day was the usual mix of medical and research presentations, and people living with lipodystrophy sharing their experiences. I find the scientific presentations fascinating, and there is some hope that damaged or absent adipose could be replaced at some point. They are working out how to do it in mice, but we are a long way off from seeing it tried in humans.

But the highest points of the day are the lived experiences. Meeting other people with this rare condition is really helpful - this year we even met some other people from Wales!

I always feel there are so many parallels in the stories of living undiagnosed and being a mystery to the medical experts for years. We were attending endocrinology appointments for 20 years and had to wait for the incumbent professor to retire (or die) before we finally saw a doctor who had an inkling what this basket of weird problems might be. 

Getting a diagnosis after 20 years felt like a triumph. But diagnosis is one thing - living beyond the diagnosis, quite the other. That's one of the points former paralympian Tom Staniford made in his speech. He also compared living with a rare disease to being an elite athlete. The similarities are uncanny. 

As inspiring as Tom was, the most powerful stories on the day were two kids - Louis (15) and Rosie (10) who both live with a particularly aggressive form of lipodsytrophy. Neither of them are letting it boss their lives and I felt immensely humbled listening to their determined optimism about how they want to achieve all they can in life.

You can find out more about Lipodystrophy UK on their website

Recap of the month - March 2023

March was very busy, with a lot of travelling and several things happening to make a stressful time even more stressful. 

I started the month by driving up to Llandudno Junction on St David's Day because our programme was running an all-day event at the Conwy Business Centre on March 2nd. It was a rare time for our disparate team to get together. The event ran really well and people seemed reluctant to leave at the end. As my colleague Lucy said, that's the mark of a good party.

Photo op with my colleague Gethin

I had booked the next few days off. As I was in North Wales I planned to stay with my mum for a few days. On the Saturday I went with my brother and eldest nephew to Derby to watch Derby County versus Shrewsbury Town. Due to various off-field problems, Derby are a big club slumming it at Shrewsbury's level. Town earned a creditable point, coming back from 2-0 down at half time to draw 2-2. 

Zac ready for the game

The trip to Derby was the first of three Shrewsbury away games during the month. On the Sunday I drove back to Cardiff. After one night at home, Cathy and I headed off to Cambridge for an appointment with the specialist team at Addenbrookes Hospital. 

The appointment was on Tuesday morning and in the evening, Shrewsbury were playing just up the road at Peterborough so we stayed an extra night in the Eastern flatlands and I went to the game. Sadly, Shrewsbury succumbed to a late goal and lost 2-1, but I did meet Peter Burrow the Peterborough mascot before the game!

Mascot!

However, when we returned to Cardiff I felt a bit poorly. My Mum had been unwell when I stayed with her and although she took a covid test that was negative while I was with her, when I took a covid test I saw the two lines that showed I was covidified. A couple of days later, Cathy felt unwell and also tested positive. 

I was well enough to work from home for a week. I missed a planned trip to watch Barry Town play at Briton Ferry so my next football match was a seventeen hour round trip to Ipswich to see Shrewsbury play again. Another exiled Salop fan, Paul, drove us there and back. It was a long way. And Shrewsbury lost. 

Photo with Sir Bobby

After visiting three new football league ground in a row, my next game was a new ground in Wales at Goytre United. They play very near to Port Talbot, and I had arranged a visit to the National Botanic Garden of Wales to check it out as a potential venue for one of my future work events in the afternoon, meaning I could stop for the game on the way back. 

It was a very muddy pitch and the Barry players had to work really hard to pick up all three points. The next game for Barry was at home to Pontardawe Town, and if Barry won they would be divisional champions meaning they would bounce back to the Cymru Premier League at the first attempt. The team played very well and put five goals past Pontardawe to win the title in style. I was joined at the game by my friends Tom, Jude and Seb who hadn't been to a football  match before. Quite a good first game!

They said they enjoyed it!

The champions applaud the fans

In the middle of all this football we had some problems in the house, including needing to get a new boiler. Our old one was 18 years old and had corroded badly. We also had some problems with doors on our kitchen units delaminating, so we claimed some replacements on the warranty. But before we could get them fitted, the washing machine stopped working safely. The repair guy recommended a replacement but to fit a replacement we have to remove the old one, and it's been built in. So, not a simple job! 

We have yet to resolve the kitchen and appliance issues because at the end of March we were back off travelling again. On the very last day of March we attended a day organised by the charity Lipodystrophy UK for people with various forms of lipodystrophy, the rare condition that Cathy has. The day was near Cambridge at the Hinxton Hall Conference Centre and accommodation was included thanks to some funding the charity had received.

Because lipodystrophy is such a rare diseases (4 or 5 cases per million people), it's rare for people with it to know other people with the condition. A day like this is hugely important for people to meet and talk about their experiences - which are usually incredibly similar - and share their coping strategies and things that they have found helpful. My personal highlight was hearing paralympian and one-in-637-million, Tom Staniford, talk about life with his incredibly rare form of lipodystrophy. 

The inspirational Tom Staniford

While it was a long way to travel, especially as it was our second trip to Cambridge in a month, it was well worth it.

From Cambridge we embarked on a mini-holiday, but that will have to wait for another blog post!