Investigations

Get yourself a comfy chair and a cuppa. If you stick with this epic blog post, you will need it.

Ready? Here we go…

Well. You know that I don’t know anyone in my family that had or has the same condition as myself?

I’ve been investigating.

There must have been someone else with this in my family. It can’t be just me, surely.

The way this thing works, is that there are people within my family, both sides of it down the maternal and paternal line, that must have (present) or have had (past) the following… (This will include everyone blood related to me from cousins to aunties and uncles, grandparents, parents and siblings)

Macular Dystrophy – 2 bad eye genes (Like me)

Carriers – 1 bad, 1 good eye gene (Possibly like my son, as I have no good one to give him. Certainly, my Mother and Father)

Completely fine – 2 good eye genes.

There must have been carriers to get to my point in time. Each passing on a bad gene to make a carrier, passing it down until 2 carriers from separate initial families meet. Maybe even from back in the days of yore.

Stick with me…

So. This is why this is rare. My Dad met my Mum. Each side of their family had the 3 options above within them. Then boom, they met with their faulty eye genes. Unbeknownst to them.

My mum and dad didn’t have this. They were carriers. They will have each received a bad gene from their parents and so and so forth. My sister seems to be OK. She will be ok or a carrier.

Still with me? See what I mean about a comfy chair now?

I found out some information from my maternal uncle. There was an Auntie Ivy of his, (My maternal grandmother’s elder sister) that was known as having very poor eyesight in the 1950s when he was young. She had apparently been like this since he can remember.

Now, back then. Her apparent ‘really thick glasses’ could have just been a way back in the 50s or earlier to help with ‘poor eyesight’ as this condition wasn’t known then at all.

I know what you’re thinking. She could have had just bad eyesight. People do.

So, we had to find out what age she was. How can you though with not much family to ask and not a lot of details?

A lightbulb moment. That’s what!

My mother had a family bible. Which I’ve got now. I remembered that family names were written in the front of it. From my Great Grandmother Clara’s family unit, whom I never met, to my Grandma Doris, my Mums Mother, whom I vaguely remember as she died when I was very young. She evidently looked after me alot. To finally, my own Mother, who wrote our family names, adding to the list, carrying on the tradition.

In this old Bible, which I remember looking at a lot when I was young. I discovered that Ivy was born in 1908. She was 20 when my maternal uncle was born.

The interesting thing about this is. She wasn’t blind. She was a younger age than say for Macular Degeneration, which affects the elderly and isn’t my condition. There wasn’t an injury known to be the cause. A probable possibility.

Remember that my condition affects you from birth, as it’s genetic. It’s the luck of the draw when you start to get your difficulties. Which is when you usually find out you have always had this inside you. An eventual diagnosis due to realising something is wrong and seeking help. From being as early on as a little tot. Or in my case. Late-onset. A lot later on, in my 40s. I’m one of the lucky ones. Luckier than Ivy, whatever circumstance was the case with her, bless her.

Now if you’ve got this far reading this… Firstly (big hug) as I even bamboozled myself while I’m writing this down… And I understand it.

Secondly… You may ask… But what does this mean? It doesn’t change anything?

You’re quite right. It doesn’t. But what it does show me is this…

Having learned and spoke to some of the people who have hereditary eye conditions, most of whom seem to know the people that are affected within their own family for example, a parent, sibling or grandparent etc.

How utterly astonishing it is then, in all those many, many decades, that it’s just me and maybe possibly Ivy, that’s taken one for the team.

Not that my family are anything special or have done anything extraordinary to mainly avoid this condition appearing in more of them joining my gang. Not at all. Complete luck.

I find that fact amazing.

Now I need to delve into my Dads side of the family, I feel. Investigate if there was anyone like me or only carriers.

I sit here today, with none of my blood relations understanding me and my condition.

For that, I truly feel extremely grateful and through my own diagnosis, we now know that this must have existed and does exist within us collectively as a family, I realise even more so, how bloody lucky we really all seemed to have been ♥

They could at least club together and buy me a nice birthday present though… Or a pint. 😉