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Genetic testing
Former Member
Posts: 1,875,648 The Mix Honorary Guru
This may be long, sorry!
In 1993 (when I was 4) I was diagnosed with an eye condition and was told there was no cause for it. From then up until I was about 11, I had 6 monthly check ups to see how my vision was, etc. When I was about 15, my colour vision slowly started going and when I was 18, I was registered as partially sighted.
I moved away for uni when I was 20. Just before turning 21, I was seen at another hospital and was tested for gaucoma. Part of the test involves having the back of your eyes (where the retina and optic discs and nerves are) being looked at. I was then told to return for another few tests. I had my colour vision tested and one for tunnel vision. It was noted that my optic discs aren't the right colour and I could just about read a few colours on the colour vision test. I was diagnosed with a condition called Optic Atrophy. This means that some of my optic nerve is missing. I was most likely born with it; but it doesn't appear to cause problems for most people until later childhood / teenage years. Having talked to various people with the condition, there's no clear prognosis. Some people are fully sighted, some people are blind and there's someone whose child is completely colourblind; but otherwise has good vision. This means he sees everything in grey.
Over the next few years, I've noticed that my colour vision is getting worse and worse (a friend has tried to convince me for a year his car is blue - I'm sure it's grey...) and I'm no longer able to read large print. On a good day, I'm lucky if I can read font size 20.
My mum has a half sister. (her dad's child) She has a genetic eye condition.
I have been informed that I can't have children. Or rather, there's a risk (unrelated to this) of passing on a disability and it's generally advisable not to have children.
No-one has ever been able to explain why I've got the optic atrophy. My own research has suggested that my other eye condition is almost certainly because of the optic atrophy.
My question - has anyone ever undergone any form of genetic testing? I also possibly face a dilemma - I have a sister. We both have the same parents. They (and her) aren't fully aware of the extent of this.
In 1993 (when I was 4) I was diagnosed with an eye condition and was told there was no cause for it. From then up until I was about 11, I had 6 monthly check ups to see how my vision was, etc. When I was about 15, my colour vision slowly started going and when I was 18, I was registered as partially sighted.
I moved away for uni when I was 20. Just before turning 21, I was seen at another hospital and was tested for gaucoma. Part of the test involves having the back of your eyes (where the retina and optic discs and nerves are) being looked at. I was then told to return for another few tests. I had my colour vision tested and one for tunnel vision. It was noted that my optic discs aren't the right colour and I could just about read a few colours on the colour vision test. I was diagnosed with a condition called Optic Atrophy. This means that some of my optic nerve is missing. I was most likely born with it; but it doesn't appear to cause problems for most people until later childhood / teenage years. Having talked to various people with the condition, there's no clear prognosis. Some people are fully sighted, some people are blind and there's someone whose child is completely colourblind; but otherwise has good vision. This means he sees everything in grey.
Over the next few years, I've noticed that my colour vision is getting worse and worse (a friend has tried to convince me for a year his car is blue - I'm sure it's grey...) and I'm no longer able to read large print. On a good day, I'm lucky if I can read font size 20.
My mum has a half sister. (her dad's child) She has a genetic eye condition.
I have been informed that I can't have children. Or rather, there's a risk (unrelated to this) of passing on a disability and it's generally advisable not to have children.
No-one has ever been able to explain why I've got the optic atrophy. My own research has suggested that my other eye condition is almost certainly because of the optic atrophy.
My question - has anyone ever undergone any form of genetic testing? I also possibly face a dilemma - I have a sister. We both have the same parents. They (and her) aren't fully aware of the extent of this.
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Comments
I'm sorry to hear that your eye condition is worsening. It's good that you've done some research on it. Sometimes the causes of such conditions are unknown and can vary between individuals, and it can be frustrating. Are you seeing a professional to help manage the condition?
It must have been difficult to hear that it's not advisable for you to have children, and I wonder if you might have discussed your options regarding this with anyone.
There is some information on genetic testing here, if you wanted to have a look. Is it something you have already undergone or you may undergo?
If you feel able to, perhaps you could talk to your sister or your mum about it further - if your mum already knows of a family member with an eye condition, she may be able to support you too.
We are here if you want to talk some more *hug*
Hope you're okay and I hope things go okay for you, Hopefully you are able to ask your doctor any questions that you may have, I know for me it helped me to ask my doctor questions and that gave me reassurance.
I don't have any advice or information to give you but just wanted to reach out to you *hug*
Keep us updated if it helps
It's alright. How you feeling now?
I'm ok, thanks. And it's nice to know (well, it's not; but I'm sure you know what I really mean) that I'm not the only one with experience of this. I have talked to some people with the same condition who have all gone through the same tests. For a few, there has been no cause, (sometimes, it's just one of those things that happens) which is good to know.
Yeah I know what you mean. When I went through the testing I didn't know anyone else who had gone through it. Feel free to PM me if you ever need a chat.
I wish you the best of luck with it all.
Just wanted to chip in as I don't mind sharing that I've opted to have some genetic testing to find out if I carry a gene mutation related to my cancer diagnosis. Given my family history there is a fairly high chance, but still felt like a tough decision. It's not something either of my siblings want to pursue as they'd much rather not know. It was good to have the conversation with them though to let them make their own mind up.
I remember asking my mother about 5 or 6 years ago and she asked me 'What would be the point, how would it change things?' At that point I really felt strongly that knowing wouldn't change things - I would still want to have children someday if I could etc etc. However, these days thing have moved on with science - an embryologist told me that sometimes if they do identify something as genetic, then if you opt to go through IVF, then they can look at the embryos to see the ones that carry it and those that don't - it means a much higher chance of not then passing it on through the generations. I don't know if there's any chance this could be the case in your situation - but definitely worth asking questions about if the children thing is a big deal for you.
Like BananaMonkey, I wish you the best of luck.