Being an Ushers Mum.
In 2011 I went for routine eye appointment and after a small discussion, the optician wanted to refer me for some tests.
I immediately had an in house field vision test. Let’s just say we know how that went !!
I was a little naughty and opened up the referral letter the optician wrote to my GP.
I noticed the words Retinitis Pigmentosa.
Never heard of it. I was a veterinary nurse so I understood quite a wide range of medical terms.
So I did what most of us do. I went on good old Google.
Maybe not the best of ideas as I was at a wedding that afternoon. It was a good job I had waterproof mascara on.
I was shocked and then in denial. There was no way I had RP. Even though the more I read, the more it was like I was reading about my life.
It felt like torture waiting for the tests, having those gruelling tests done and then waiting for the results.
During that time I accepted what the outcome was. I knew deep down I had RP. Family and friends would tell me not to think the worst and that it was probably something less severe.
If I’m honest I think I did the right thing preparing myself for the worst, as when I was diagnosed I felt more together than many people. Well on the outside anyway.
Truthfully, I was devastated. I had 2 little girls, I had had my driving license taken away and my physically demanding job was in jeopardy.
My main worry was my children.
Would I hurt them somehow?
Would I see them grow up?
See my grandchildren?
I think I drive myself a bit insane for a while. But finally I came to realise that nothing in life is guaranteed.
I could get hit by a bus tomorrow, or fall sick and pass away. Yes I know it sounds morbid but if the worst was to happen and I fully lost my sight, then at least I’d be physically there. Which is more than some get.
After several months I stumbled upon an article about RP and there was a link to Ushers Syndrome. So I read up. Again it was like I was reading about my life.
As a young girl, after a routine hearing screen it was discovered I was completely deaf at a certain frequency with mild loss at all levels.
So ushers called out.
I spoke to my consultant and he said that I shouldn’t keep reading up. That ushers was extremely rare and unlikely I had it.
I wasn’t happy with his response so I took it upon myself to contact a genealogist.
She was amazing. She listened to my reasons and she had researched ushers. It was decided to do some blood work. I had my blood tested for 100+ ushers and RP genes. The test I had had only been available for about 18 months so it was fascinating to know the results.
After many months it was confirmed Ushers Type 2A.
Finally I was getting somewhere.
I went back to my consultant who didn’t really seem bothered with the test results. He basically said “well yes you have it, there’s nothing that can be done. We will check on you yearly to monitor the condition”
That was it.
My animals at work got better treatment.
I wasn’t going to let this go.
I’d heard of Moorfields off an RP/Ushers group on Facebook. I emailed them and asked what the protocol was to get an appointment.
I went to my GP who applied to the local PCT for funding to send me.
Within a couple of months id got an appointment and was seen.
The tests again were very uncomfortable and knocked me about for a few days afterwards. But the work they do there is amazing.
They had all my notes from my local hospital and the genealogist. But they also did their own investigations.
They noticed I also had macular edema. I’m so thankful that this was picked up. As if not my remaining eyesight could of been severely compromised.
So now, just over 4 years later I’ve gone from being registered Visually Impaired to Severely sight impaired/blind.
I have just 5 degrees of vision left and am still taking drops for the edema.
The reason I’ve wrote this is I wanted to talk to you about RP/ Ushers and being a mum.
I had my first 2 children before I was diagnosed and I have had 1 other since.
I regularly see people on the groups ask the question of children.
Obviously there are many factors to consider.
Unless my husband was a carrier, my children could only ever be carriers, they wouldn’t get RP. I have recessive RP. My parents are carriers of the faulty gene and I got both faults.
But for some, it’s a much higher risk as they have dominant genes. This can be where several family members have RP.
I’ve been asked how I cope being a VI parent.
It’s not easy. There are times when I’ve got upset as I’ve knocked a child over or trodden on and broke a toy.
But as time went on, we established a certain way of life. My older girls used to guide me from the car to the house at night when dark. They would know to move toys to the outskirts of the room so I wouldn’t trip over them.
This obviously didn’t happen overnight but as they got older, they did things automatically.
It also helps that I have an amazing support network around me. Without my husband and mum, I would find things a lot more difficult.
Would I of still had children after diagnosis?
Yes, I did. I had my 3rd daughter almost 3 years after diagnosis.
Would I of had children if I had dominant RP?
Truthfully, I’m not sure. I’m not in a position to answer it as I don’t have that form. I think things may be harder due to both parent and child being VI. But with a routine and structure I know it can be achieved.
But from my experience, there is a lot more things out there that’s far worse than RP. I have met some amazing people who have RP and now I find it more of a blessing than a curse.
I believe my children will become better people having a mum with disabilities.
At first I felt a burden to them. But now I believe that due to them helping me and assisting with things, it will make them appreciate the smaller things in life that many take for granted. I hope it makes them grounded and give them morals and values in life.
I think I’m a better mum since being diagnosed. I don’t like to miss anything in my children’s lives. I like to document everything and take many pictures.
We do a great deal of things as a family and make many memories so that if one day a cure isn’t found and I lose my sigh I have those memories to cherish forever.
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