DNA tells all

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. 

Being genetically counselled

I had made an appointment to see a genetic counsellor about 3 months ago and the time came this week. I hadn't really given much thought to it to be honest. The main reason I went was to do genetic testing to find out if I actually have the known Stargardt's mutated gene, as I feel like it will be the final thing in accepting my diagnosis, even though I know I do have it.

So I went along to my appointment not knowing what to expect. Normally when I am seeing a doctor I have what I want to know planned out. This time I was under prepared for my usual standards.

The genetic counsellor was really great; she had easy to understand diagrams that showed the most likely way I inherited Stargardt's, and then showed me possibilities of when I have children. The good news is that the chances of my partner being a carrier is quite rare, and thus it's likely my children won't have any chance of inheriting Stargardt's. There's the possibility of testing my partner in future to see if he is a carrier, but to be honest I don't think it would matter because it wouldn't affect my decision to have children if they were at risk. I cope well and have a great life!

The other question is whether to test my younger siblings. There's currently two debates in my household
1. There's not point in knowing because you can't stop it or change it
2. If you knew you could make decisions about careers etc and also use preventative measures like wearing sunglasses at all time and so forth.

It's a hard decision and there will be more debates in our home.

So I have to give blood and it will be sent to the US for testing which will take a few months, which is not good for someone like me who is so impatient.

DNA Testing

Today I finally got the courage to go an get all the blood sucked out of me. Well it felt like all of it.

When it comes to needles I generally swing two ways - either I'm the bravest person you'll ever meet and it doesn't phase me, or I'm the biggest baby. Today I was a baby.

I went to get my blood taken to send to the Inherited Retinal Diseases Register to get genetically tested. I have been meaning to do this for a while, had many discussions with my family about ethical issues, and finally decided to do it as I would actually get the results. We are also planning on getting my parents blood taken too and possibly my siblings.

So in my nervous state I took myself down to the pathologist, with my friend who had to put up with me. They took SIX VILES of my blood. I don't think I have much more than that and to top it off I have the worst veins and it is always an ordeal to take blood from me.

But with my friend by my side distracting me I sucked it up and tried to look brave while I sat there for what felt like an hour with the needle in my arm sucking out the blood. I must admit it was one of the longest blood tests I've had!

I feel as though this genetic test will 100% confrim my Stargardt's, even though clinically I do have it, but there is always a doubt and 'what if' I have something else?

I encourage any Aussies who haven't already made contact with the Inherited Retinal Diseases Register to do so. They are really helpful. Here's their link.

Inherited Retinal Diseases Register