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.
Friday, June 8, 2012
Sunday, June 3, 2012
Bionic Eye
Have a look at this recent video on the bionic eye. It's crazy how maazing technology can be.
Increasing my magnification
As I have mentioned I use Zoomtext on my work and home computers. I have been using it a x2 magnification since I first got it, especially since I didn't like to slide all over the place too much. Recently I have noticed that I am leaning quite close to the computer to read. I didn't want to admit that I probably needed to increase my magnification.
I persevered for a while, but finally thought I'd give it a go just to see what it was like. So I increased the magnification to x3. What a difference it made. I had to slide across the screen more at work, although I could stay put in my chair and not be leaning in touching the screen with my nose!
I'll admit I'm in denial. I didn't want to increase the magnification because then I'd have to awknowledge my eyes are becoming worse. I know it's silly because it would reduce my strain but it is really hard to accept!!!
I also get slightly paranoid, especially at work, as my screen is so large anybody can read what I'm doing (not that I am ever doing anything wrong!), but it's just uncomfortable knowing that if someone looked over they could read it easily.
Of course I've kept my Zoomtext at x2. I'm really quite stubborn.
I persevered for a while, but finally thought I'd give it a go just to see what it was like. So I increased the magnification to x3. What a difference it made. I had to slide across the screen more at work, although I could stay put in my chair and not be leaning in touching the screen with my nose!
I'll admit I'm in denial. I didn't want to increase the magnification because then I'd have to awknowledge my eyes are becoming worse. I know it's silly because it would reduce my strain but it is really hard to accept!!!
I also get slightly paranoid, especially at work, as my screen is so large anybody can read what I'm doing (not that I am ever doing anything wrong!), but it's just uncomfortable knowing that if someone looked over they could read it easily.
Of course I've kept my Zoomtext at x2. I'm really quite stubborn.
Thursday, May 17, 2012
My purple cane
I got my purple cane delivered in the mail! I was so excited and opened it to find that I had a stick, but no ball. I was a bit confused and thought I could maybe use it to poke people instead.
Turns out they come separate and when I had my mobility session with Guide Dogs I would get the ball.
Which brings me to the mobility sessions. I was quite weary at first, walking around with a cane and even though I don't need it constantly it is a skill I will most probably need in the future. I found the actual sessions to be quite fun and not at all as scary and upsetting as I thought.
We walked my local streets to learn the technique of using a cane, and it is harder than I thought! The less I thought about the more natural it become and I started to feel comfortable using it.
I never noticed before how much I concentrate on seeing where I am walking to the point where I give myself eye strain and it hurts! It's such a feeling of freedom to have the confidence to look ahead or what's around me without worrying about the ground in front of me.
So far I have had two sessions and I look forward to them. I will keep you updated!
Turns out they come separate and when I had my mobility session with Guide Dogs I would get the ball.
Which brings me to the mobility sessions. I was quite weary at first, walking around with a cane and even though I don't need it constantly it is a skill I will most probably need in the future. I found the actual sessions to be quite fun and not at all as scary and upsetting as I thought.
We walked my local streets to learn the technique of using a cane, and it is harder than I thought! The less I thought about the more natural it become and I started to feel comfortable using it.
I never noticed before how much I concentrate on seeing where I am walking to the point where I give myself eye strain and it hurts! It's such a feeling of freedom to have the confidence to look ahead or what's around me without worrying about the ground in front of me.
So far I have had two sessions and I look forward to them. I will keep you updated!
Wednesday, May 9, 2012
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
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
Monday, May 7, 2012
Updates on Research
Blindness and visual impairment seems to be in the media quite a bit lately. I've gathered the most recent updates for you all to check out.
A study in the UK has successfully inserted implants into three patients retinas. The patients treated had Retinitis Pigmentosa and saw immediate results once the implant was in use. This website has an amazing picture of the implant in the retina and also explains the technology.
Retinal Implant
I've previously mentioned Advanced Cell Technology and their stem cells trials. The latest on the trial is that they were given approval to increase the dosage of stem cells and recruit further Stargardt's patients. This is great news. This trial is a phase 1 study which is looking at finding the maximum dose that can be tolerated and the safety of the technology. All is looking positive for stem cells!
Advanced Cell Technology
Gene therapy is another new treatment that is seeing exciting results. A US university has successfully treated 12 patients who have another inherited retinal disease - Leber's Congential Amaurosis (LCA). The treatment involved injecting a virus with copies of the 'normal' gene into the eye. The patients treated are reported to be able to make out shapes, recognise faces and read large print. This could also be a possibility for other inherited eye diseases.
Gene Therapy
A study in the UK has successfully inserted implants into three patients retinas. The patients treated had Retinitis Pigmentosa and saw immediate results once the implant was in use. This website has an amazing picture of the implant in the retina and also explains the technology.
Retinal Implant
I've previously mentioned Advanced Cell Technology and their stem cells trials. The latest on the trial is that they were given approval to increase the dosage of stem cells and recruit further Stargardt's patients. This is great news. This trial is a phase 1 study which is looking at finding the maximum dose that can be tolerated and the safety of the technology. All is looking positive for stem cells!
Advanced Cell Technology
Gene therapy is another new treatment that is seeing exciting results. A US university has successfully treated 12 patients who have another inherited retinal disease - Leber's Congential Amaurosis (LCA). The treatment involved injecting a virus with copies of the 'normal' gene into the eye. The patients treated are reported to be able to make out shapes, recognise faces and read large print. This could also be a possibility for other inherited eye diseases.
Gene Therapy
Relationships
Having a visual impairment does not just affect your every day life but also your relationships.
I had been in a long term relationship and was diagnosed with Stargardt's Disease. This had a huge impact. I had to pretty much change my whole life plan. Not only that, I started making rash decisions as I was afraid of what the future would hold.
It takes time to accept diagnosis, and I feel as though I am coming closer to total acceptance. Instead of jumping to conclusions and seeing my condition negatively I have started looking at it in a positive light and all the things I still can achieve, and being legally blind will make it that much more special.
My relationship broke down and I feel as though my condition did play a part in that. I now have fears as to "who would want to be with someone with my baggage". Possibly I have watched too much Jerry Springer 'Excess Baggage' but it always stays in the back of your mind.
I know it sounds silly and there are amazing people in the world but the doubt always hangs over. It's just another way that Stargardt's has affected my life and I'm sure others lives as well.
I had been in a long term relationship and was diagnosed with Stargardt's Disease. This had a huge impact. I had to pretty much change my whole life plan. Not only that, I started making rash decisions as I was afraid of what the future would hold.
It takes time to accept diagnosis, and I feel as though I am coming closer to total acceptance. Instead of jumping to conclusions and seeing my condition negatively I have started looking at it in a positive light and all the things I still can achieve, and being legally blind will make it that much more special.
My relationship broke down and I feel as though my condition did play a part in that. I now have fears as to "who would want to be with someone with my baggage". Possibly I have watched too much Jerry Springer 'Excess Baggage' but it always stays in the back of your mind.
I know it sounds silly and there are amazing people in the world but the doubt always hangs over. It's just another way that Stargardt's has affected my life and I'm sure others lives as well.
Subscribe to:
Posts (Atom)