Did a diagnosis change anything?

By Niamh Duffy -

All my life I was told by various doctors "it's similar to this" or "you show symptoms of this", however only last week did I actually get a final secure diagnosis, Emery Dreifuss Muscular Dystrophy. I'm not too good with hospitals because of this, I always thought growing up it was pointless… I've definitely left a few doctors baffled in my lifetime.

My geneticist sat opposite me in shock at my reaction when she told me. She openly admitted she expected my mom and I to be upset, anxious or even unnerved by this. It wasn't a typical film moment where we would have burst into uncontrollable tears or storm out of the room. Instead we just said "Ok then". The thing for me is, although I now have a definite name to write on forms or to tell people, I don't see how this makes a difference to the life I lead. I owe this mind-set to my mom, one of the strongest people I know. Although we both get nervous every now and again, she has always shown me that life goes on, keep your head high and enjoy it.
So the appointment continued…

Do I want more information? No.
Had I already googled it? No.
Do I have any questions? Not at the moment.
Any worries? Of course but that's natural.

I was actually more interested in the science side of things, genetic mutations, XY chromosomes etc that I remembered from Biology GCSE. So it turned into more of a science lesson for my mom than a diagnosis appointment. It had taken 19 years to get to this point, and we'd only got there now because of technology advancements with genetic testing. My childhood consultant hadn't previously had access to these but now they were available the affected Lamin A/C gene had been found.

So, looking to the future, who knows what will happen long term? I'm not silly and unaware that it will bring its problems, cardiac issues being my main worry, but that isn't going to stop me going out this Friday night or jumping on a plane to Tenerife to get some sun. I will carry on saying yes to whatever opportunity poses itself whether that is a festival in Spain, family holidays to the Caribbean or my dream job in the city centre.


So to answer my question, did it change anything? Not really no. 

A diagnosis in my eyes is a medical term not a life sentence.

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