What is a rare genetic disease? 

Have you heard of cystic fibrosis? Muscular dystrophy? Huntington's disease? 

Of course you have. You may not know what they involve, but you would have heard of at least one of them. These are all genetic diseases. 

Have you heard of multiple sclerosis? … 

Maybe? This is a rare genetic disease. It was first diagnosed in 1395 and currently approx 2,500,00 people in the world are living with this. 

Have you heard of Xia-Gibbs Syndrome? 

No? I didn't think so. 

Xia-Gibbs Syndrome doesn't make him special, he has always been special.

There are roughly 20,000-25,000 genes in the human DNA. Each gene is made up of a string of bases which are the instructions for the body to make a specific protein. Each protein does its own job and works with a host of others to make our bodies grow, learn, and develop. If you changed one of the bases in the protein "instructions", just 1 little change (like a G to an A) it can change your entire life… and it has changed mine. 

Xia-Gibbs is not just a rare genetic disease, its a new one. First being recognised in 2014, less than 300 people Worldwide have been diagnosed so far.

A drop in the ocean

A medium sized primary school would have around 300 people in it. Can you imagine all the people from your school being scattered around the world, they would be lost in the 1000,000s of others from other schools. They would be bundled into a category with 100s of other schools with different languages and religions and ethics and even dietary preferences. You'll all be treated the same, fed the same, spoken to the same. Sometimes it will relate, sometimes it won't, but nobody will look at you as an individual because amongst 7.7billion people in the world, the 300 from your school aren't even a drop in the ocean. 

Now don't get me wrong, being a small group has its benefits. We have a Facebook group for parents and guardians and there is a real sense of community. We all have to become advocates and experts for our XGS heroes and we are able to support each other to achieve this. 

We fight daily to help our loved ones achieve what we would normally take for granted:

To be whatever they want to be! 

Tell me in the comments what you wanted to be when you grew up ❤