A rare find
When naturalists discover a new species, in remote corners of the world, they leap with excitement. Naming it, classifying it, protecting it, saving it for humankind. They share it with the world, write scientific papers on it, take photos and samples to understand it’s cell structure or physiology. How does it live, how did it evolve, what are the conditions it needs to thrive, how does it fit in with the ecosystem… so many questions bringing a flury of research to learn more.
This is what happens with the discovery or a rare animal and this is what happens when science discovers a unique human – like me.
We tend to get classified, photographed, probed and questioned to see what makes us tick – then people write papers on us and try to figure out how we work to share that information to help others or for scientific documentation. The race begins to find a way to fix what went wrong before we expire – funding permitted. Like a rare animal, sometimes our bodies, or parts of us end up in laboratories and museums …. I think part of my leg is still frozen in a test tube somewhere in Newcastle.
A unique person not a lab rat.
I have unique DNA – a unique genetic default. My mutations don’t do anything exciting like give me super strength – in fact it’s just the opposite, they take away my strength, more and more each day.
In the UK there are around 70,000 people effected by Muscular Dystrophy (MD) and similar muscle wasting conditions. I am one of them.
Out of the many types of MD in the world – I have Limb Girdle. The prevalence of these types of dystrophy can only be estimated – anywhere from 1 in 14,500 to 1 in 123,000 [van der Kooi et al 1996].
Specifically, the type I have is Limb Girdle 2C. In the body there are 4 sarcoglycan genes – I was born with a mutation and I can’t make a protein called gamma sarcoglycan. Around 1 person in 178,000 have a type of sarcoglycanopathy.
A world apart – brought together via the Net.
In some parts of the world more people have this mutation and in other places nobody knows how many people are affected.
Studies found that in New Delhi, India 11.8% of people with LGMD had sarcoglycanopathy. In Japan it was 8.8%, Netherlands 25% and 55% in Brazil. [SourceLink]
So – in some places it is easier to find someone with the same condition – for support and understanding – and now with the internet, people with rare conditions can easily find each other and create their own support groups and sources of information. All the most useful information that helps out on a day to day basis has come from other people with the same or similar condition.
Living with a rare disease
Statistics like these makes me a rare individual and today, 28th February is Rare Disease Day 2015 – which is all about what it is like to live with a rare condition, and how it effects families and communities.
Sometimes things so rare don’t attract research funding, so it can feel there is no hope. LGMD2C certainly doesn’t attract the research funding like Duchenne MD does – chances are you’ve never heard of my type yet it is pretty much the same as Duchenne in how it affects me.
If you know me then you will have a glimpse at what life is like – at least the physical practicalities – and maybe that’s the best type of understanding – just knowing and interacting with me is possibly insightful?
Don’t just be aware – do something!
Being aware of the name of my condition, clicking ‘like’ on Facebook or similar won’t make treatment any more likely – the whole world could be ‘aware’ and it wouldn’t make the slightest difference. The awareness day for Limb Girdle is actually my birthday, but I’m not taking part in it. Coloured ribbons don’t generate action to help make life better.
Some campaigns focus around the ‘help dying children’ concept. Well how about helping living adults like me – we need help too. Don’t believe the ‘most people with LGMD2C die in their teens or 20’s’ slogans like this one. Some do but many don’t. I’m nearly 40, as are a lot of my friends – and we need support to live without treatment until cell research provides a therapy or ‘cure’.
Let’s face it, it’s actions we need …. either hard cash (and lots of it) going into specific research or in supporting people to live with the condition. In the absence of cash, friendship and voluntary work can go a long way in making life good. Friendships is free, a signature on a campaign for equality is free, speaking out with disabled people to improve quality of life is free, caring about how the NHS secures funding for medications, treatments and services for people with a rare disease is free.
For information on Sarcoglycanopathies and research visit Muscular Dystrophy UK
To see what life is like living in the UK with LGMD2C – read my blog 🙂
van der Kooi AJ, Barth PG, Busch HF, de Haan R, Ginjaar HB, van Essen AJ, van Hooff LJ, Howeler CJ, Jennekens FG, Jongen P, Oosterhuis HJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, Bakker E, van Ommen GJ, Bolhuis PA, de Visser M. The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. Brain. 1996;119:1471–80. [PubMed]