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 Glasses, How I'm Adapting

Visually impaired and labels

Posted on by One Vision
Woman holds up a hanger with a question mark on the labels
If I have my reading glasses I can cope with font that is a reasonable size.

If I haven’t got them on because I usually have my sunglasses on or distance glasses that aren’t good for the distance anymore really, I’m a bit lost.

In certain clothes shops they have a colour for sizes and I remember the colour on the hanger as I wander around.

Makeup has the smallest font that only someone with superhuman powers can see. I don’t think you have to have eye problems to have difficulty, so just mainly stare and hold it up close, move it around different angles and now I’ve started to ask people what the blumming colour is. I haven’t done this until recently as I was still in hiding.

I have a magnifying keyring on my keys but will not use that yet. At times I’ve not got what I wanted just because I cannot make out ingredients. Mainly as my son is vegan I look for food that may interest him to cook, but doesn’t have dairy in the ingredients.

It’s a good job I’m not allergic to any foods. That must be hard for someone who is. So I’m lucky that way.

One day I wanted a fish finger sandwich. Been shopping the day before and couldn’t read the jar properly. So off I went with my little jar of tartare thinking what a treat for my tea.

Sat down with my fish finger and horseradish sauce sandwich 😕 just because back then I wouldn’t ask.

Posted in The Medical Stuff

Lipofuscin, Drusen and Floaters

Posted on by One Vision
Derailed eye images on a clipboard explaining in picture form what is written in the blog post here

Now and again floaters appear.
We all have them it isn’t exclusive to the condition that I have.
So you know what I mean by this.
What I do have slowly building up inside is Drusen (Lipofuscin), a cell waste deposit, yellow in colour that because of my macular not coping with vitamin A and any waste the eye makes. Not being able to process it, just hangs around in there.

Drusen is a German word that means “rock” or “geode.” They are like tiny pebbles of debris under the retina. The cause of the drusen deposits is related to a type of “garbage” disposal problem. Retinal cells dump unwanted material, and immune cells normally clean up most of it. However, if too much is dumped, or it is not properly packaged for disposal, it can pile up. The drusen contain proteins and lipids (naturally occurring molecules that include fats). So this can scar the macular cause cell death and make it degenerate. Causing central vision loss.

Usually get about 1 or 2 at a time. Not many. This happens rarely but thought that I would mention it as I\’m going to read all this back to track my progression.
These don\’t bother me yet.
Usually if you see me with a coffee sticking my fingers in it trying to get a speck, a bug, a bit of dust out. You can bet 9 times out of 10 It\’s usually just a floater I\’m seeing in my coffee and I only realise when there is nothing moving to the side of the cup ☺