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.
Sunday, August 18, 2013
Thursday, August 8, 2013
New gadgets!
Today I had my second work place assessment to see if I need any more help since my vision has deteriorated. Once again I applied through Job Access, an Australian government reimbursement program. Originally I received my ZoomText software, a large screen and a hand held magnifier.
This time round I didn't really know what exactly I wanted or needed and really just wanted to see what technology was available that would help me. I learnt all about "eye fatigue" and ways to minimise this. Since my job is predominantly computer based, it is important to ensure I sit correctly, which is something I never considered. Usually I sit cross legged on my chair, swing around and use thousands of fluoro post-its. Luckily I am hopefully receiving a foot rest to stop me from sitting like a yogi and an arm for my screen which will help on the days where I am a little more tired and can bring it closer to my face without straining my neck.
I was also shown an array of magnifiers, from hand held to huge star trek looking things and I have been recommended for a few different magnifiers to help with reading long documents.
I must admit at first the experience was slightly confronting, especially since it is in the work place and sometimes I do worry what people will think, but usually once I show them all the cool gadgets and software they get jealous. It's also hard to accept that I need more help to do my everyday activities and sometimes it takes more effort but the quicker I get over that feeling the better. It's a fact of my life and it's fine. I still manage to work well (I'm quite an exceptional worker if I don't mind saying myself). I am still reluctant to try more speech based applications but I am a very visual person so I am trying to find ways to maintain this.
It was a great shopping experience! Once my application is approved and I purchase my new toys I will share more!
For those that haven't contacted Job Access yet here is the link. It's a great scheme and is not only for vision impairment but any disability.
Job Access Australia
This time round I didn't really know what exactly I wanted or needed and really just wanted to see what technology was available that would help me. I learnt all about "eye fatigue" and ways to minimise this. Since my job is predominantly computer based, it is important to ensure I sit correctly, which is something I never considered. Usually I sit cross legged on my chair, swing around and use thousands of fluoro post-its. Luckily I am hopefully receiving a foot rest to stop me from sitting like a yogi and an arm for my screen which will help on the days where I am a little more tired and can bring it closer to my face without straining my neck.
I was also shown an array of magnifiers, from hand held to huge star trek looking things and I have been recommended for a few different magnifiers to help with reading long documents.
I must admit at first the experience was slightly confronting, especially since it is in the work place and sometimes I do worry what people will think, but usually once I show them all the cool gadgets and software they get jealous. It's also hard to accept that I need more help to do my everyday activities and sometimes it takes more effort but the quicker I get over that feeling the better. It's a fact of my life and it's fine. I still manage to work well (I'm quite an exceptional worker if I don't mind saying myself). I am still reluctant to try more speech based applications but I am a very visual person so I am trying to find ways to maintain this.
It was a great shopping experience! Once my application is approved and I purchase my new toys I will share more!
For those that haven't contacted Job Access yet here is the link. It's a great scheme and is not only for vision impairment but any disability.
Job Access Australia
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