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