It's in my genes!

February 6, 2019

 

We are made up of over 20,000 genes.  They are our very own, very unique blueprint. Every now and then a gene can contain a change, like a spelling mistake, that alters the gene message and thus a faulty gene is born.

 

On 21st May 2018 (Just over a year after my diagnosis) I found out I had two faulty genes. One of which, was the little devil that most likely caused my ARVC and he is called PKP2 the other was a genetic change of unknown significance - so who knows what that will be responsible for?? Probably my smelly feet or something.

 

When you have genetic testing it's not guarenteed they will find one of the faulty genes that are associated with ARVC so this was the best news I could receive as it meant my immediate family could now be tested to see if they carry that very same gene.  If my sisters didn't then it would be very unlikely their children would need to be tested which would be a huge relief.

 

On the 19th October 2018 I found out that my mum and two sisters do not carry the gene. Immense relief that they will hopefully never develop this condition and more importantly my nieces and nephew won't be subjected to all the testing either. By the process of elimination this means I did not inherit the condition from my mum and now only leaves my dad. My dad finds out his results this week, 2 years after my diagnosis (just to give you an idea of how long these things can take especially if you, like him are based in Cornwall).

 

However, there is a third option, although slightly rarer, I could have simply mutated all on my own. Although this sounds pretty cool like I'm some new x-men character with mysterious powers ready to pack up and join Xavier's School for Gifted Youngsters. I guess there was a huge part of me that felt alone again in this journey and of course the inevitable question rose to the surface again "why me?".


I only allowed myself a fleeting moment to think this. Depending on my dad's results I might have to support him and other family members that might be affected. Besides, I always knew I was "unique" and now I know why. My faulty mutating genes!

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