Category: Before Diagnosis

Posted in Before Diagnosis, The Medical Stuff

We are family – My Family and eye Genetics

Posted on by One Vision
One of the questions that I have been asked is will my family have this condition.

This is the hardest fact to face. More than me having this disease.

My parents didn’t have a macular condition. It would have presented itself at somepoint. But they must have been carriers of the disease.

So, they were each a carrier of one mutated gene and one normal gene ie carriers of the disease. This wouldn’t affect them personally.

So when they passed a copy to me, because you inherit a copy from each parent, I got the 2 bad copies from each parent.

I\’ve seen lots of posts on the facebook groups I\’ve joined and there are parents blaming themselves for their children having this condition.

Well if I may speak for someone in this position, there is no way I could ever blame my Mum and Dad for this. Nobody is to blame. As far as I’m concerned it’s just one of those things.

They never knew. I’m glad they didn’t and both of them passed on before I found out. So I didn’t have to tell them. Hopefully this condition in my family, and it is there, just dormant as carriers, as I’m not aware of any others, may die out with me.

Firstly, my sister (we both have the same parents) will have any of these 3 outcomes.

°Have macular dystrophy.

°Be a carrier.

°Be completely fine.

My sister looks to be OK though as my consultant said she’d would be most likely to be presenting symptoms now.

I’m going to ask about genetic testing next time I see my eye consultant.

My son. This is hard for me to face. Will be a carrier as he will have a mutated gene from me as I don’t have a normal eye gene to give him.

So if his paternal gene was a normal one he stays a carrier. If it was mutated he could have what I have.

This is how it is inherited.

You can have generations of carriers with no problems and then it just takes 2 of the same faulty genes, to be passed down and then bingo, the person has it from the day of conception.

This is why the condition is rare. 95% of people aren\’t carriers. Only 5% are. So, as you can see the genetics of this mean it’s quite hard for the disease to actually appear.

Posted in Before Diagnosis, Hospital Appointments

How did they test me for Macular Dystrophy?

Posted on by One Vision

Well, there are tests, at my first appointment with the consultant.

⚫ I had the ‘normal’ eye test first. This was with distance glasses on reading an eye chart. They can also help you with pinhole glasses, (I’ve write about these before). I didn’t need the help with these until the last time I have gone for one at the hospital.

⚫ Then, I had the puffer pressure test that you may have had in the usual opticians.

⚫ A visual field test. Which I have described in other posts.

After this, you have some drops popped into your eyes to dilate them, ready for the consultant to be able to look into your eyes easier.

Then, in with your consultant. You will have your eyes looked at through a magnifer. Usually with a prism and a bright light.

They will look through everything, but the main thing is the consultant looking ‘in’ your eyes.

This is where she told me very quickly that there was signs of Macular Dystrophy there and unfortunately that was what I was being diagnosed with. Along with small, both eye, (ped) Pigment epithelial detachment.

So, in a nutshell

In my experience it all boiled down to the actual examination of my eyes by the consultant. She could physically see the damage done.

Posted in Before Diagnosis, How I'm Adapting

Lucky

Posted on by One Vision
Please don’t think I’m feeling sorry for myself.
I’m not.
Never have.
I realise how lucky I am.
I’ve seen my son and nephew grow up. Seen beautiful views, been independent.
I will keep on seeing these for a long time to come I hope.
I drove a car, for 29 years. A lot of people I’ve read about won\’t do that because this condition has started causing them problems far earlier.
There have been mothers blaming themselves because they have a little one at home that will never see the things I have. Parents aren’t to blame at all. Mine wouldn’t have even known they carried faulty genes they passed onto me.
There are parents with little tots that won’t see what there children look like when they get older. I have.
I still can see. I’m OK. This blog is to track it. For myself and for anyone that is interested in following my story. Which maybe their story too.
Facebook groups especially gave me an understanding of something I had never heard of. People who understood why I could see a leaf on a tree in the distance. But had to zoom in when looking on my phone.
It’s complicated. Hard to explain. Don’t really completely understand it myself.
I always appreciated the little things in life, just moreso now.