I recently got preliminary results from my genetic testing (that I did almost two years ago now!). They showed that I do have the mutation in the ABCA4 gene and it is the recessive condition. I need to have further testing to determine whether I have two recessive genes (from each of my parents) or one recessive and a gap (only one parent has the recessive gene). We can then go on to test my parents and my siblings if they choose to.
I must admit it is quite confronting getting the results. Even though the condition is 99% diagnosed from other methods such as EPS and deterioration can be seen in the macula, there's still always that small doubt or hope that I have been wrongly diagnosed and have another condition with a treatment. It is such a tiny hope but I found myself holding onto it in the back of my mind.
Finally being told that yes, your genes definitely show this condition, I got slightly emotional, even though I've known I have SD for a few years now.
In my true style, I had a small sook, sneaked some cuddles from my work colleagues, and turned the positive me back on to think of more ways I can help myself reach my goals, and most of all inspire others.
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