My daughter is going blind and I need to pull myself together

[NoodlesMam]

Posted on the genetic/chromosome testing thread but after reading through my posts I've realised that it's not really the testing that's bothering me so much and perhaps it's not the best place to post? I don't even know why I'm posting? Perhaps I just need to say it to someone who understands? All my family seem to want to brush it under the carpet and I don't really have many friends to talk to.

My DD2 has limbal stem cell failure, vascularisation of the the cornea, corneal swelling, conjuctiva cell migration to the cornea, dry eyes and her retina isn't developed properly, her right cornea is severely scarred and as a result this eye is amblyopic she is also long sighted in one eye and short sighted in the other?? the hospital use the pictures to assess her vision and I can't remember the logmar figures but have had it explained as she would not be able to read the top line of the vision test board from 6 meters with her right eye but would possibly get the 3rd line down with her left. the doctors predict that within the next couple of years, because of the vascularisation/cell migration/scarring DD2's vision will be 'residual' and she will only be able to make out the outline of large objects if close enough and tell the difference between light and dark.

DD2 also has Microcephaly with no developmental delay. We didn't know she had a problem with her eyes till she was 2 although I'd had a suspicion for a few months and had taken her to our local eye hospital's A&E a few times because I had noticed a white mark on her eye. They told me I was paranoid! At our last Paed appointment to monitor DD2's development re the Microcephaly I mentioned the mark, he said it looked superficial and referred her on then discharged her from monitoring. Even the Paed Opthtalmologist thought it was just loose epithelial skin and planned to remove it under anaesthetic, patch her eye up and there it would be fixed. He seemed almost as shocked as us when he took us off to the relatives room for a 'chat'.

All the tests have drawn a blank, at first the docs were sure it was a problem with the PaX6 gene, similar to aniridia but that turned out to not be the case, now we are waiting for the results of a chromosome sequencing test.

I know children adapt and I keep telling myself that. DD2 is such a bright and happy child, she's loving and kind but also has a strong will and is very independant, she amazes me every single day, for that I am so incredibly grateful and when I read some of the threads on here I almost feel like a fraud for feeling so sad. After all DD2 IS ok, she is light sensitive and suffers pain but wears sunglasses and we are managing her pain with steroids, dry eye treatment and calpol, there is no reason for her not to lead a full and happy life. And given her personality I very much doubt she will allow anything to hold her back.

I'm normally such a positive person and believe that something positive will always come from a negative situation but I just can't seem to pull myself together with this? Some days I'm fine and throw myself into finding help for my DD2, and learning how to help her and understand her vision. Then I have days, like today, where I remember the first operation, the one that was to be so simple (peel a bit of skin off, patch it up, all fixed) and the doctor putting his head down, saying 'I think we need to have a chat', to hardly being able to breathe as I ask if DD2 is going blind and then the doctor's reply of 'well, she wont be totally blind, but in terms of residual vision then yes'. And the genetic tests, I want them and feel I owe it to DD2 and any future generation to get to tests done, but on the other hand I kinda don't want to know?

When DD2 was born and we had the first tests done for the Microcephaly we feared that DD2 may not walk/talk and that she would be seriously ill etc. If someone had said to us then, well developmentally she will be fine but she wont be able to see very well and will eventually be blind, other than that she will be healthy. I would've been relieved, so why do i feel so sad? Our situation could be so much worse.

I feel like I'm grieving for the things she wont see, but then I know she can still hear, smell and feel.

I feel so terribly sad.

It's right and normal and natural to grieve.

Allow yourself that for a bit.

She will both be fine - and miss out on loads of things / find loads of things harder.

its okay to feel this way and grieve for what might have been but dont ever feel sorry for her she wont want or need you to do that we need to be so very strong on their behalf until they are older and able to take care of themselves ( if they can) she will be ok she is resilient and can still do much in life she will find things harder but you will be further surprised over the years what she will accomplish so take time to reside yourself and to grieve but never ever forget there is always love and hope and dreams, a friend of mine is blind he has more of a full interesting life than i do as im a carer for a son with ASD/Dyspraxia and a disbled husband im so sorry to hear how awful its been though we can all empathise but just dont be too hard on yourself give yourself a break your doing good (hugs)

That's very hard, Noodlesmam. Allow yourself to be sad, be kind to yourself. Your DD will amaze you, I'm sure, with her resilience and achievements. (((hugs)))

Crossed with SmileAndWave, I think we're on the same wavelength.

Technology is catching up with some of this. Can't guarantee anything but it looks like they are getting close to being able to use technology to allow some people to see again. It might give you some hope that even if your lovely dd can't see for a while, there's a chance that could change. I have friends who are completely blind and I have to say they have a great time in life, but that doesn't change how you feel right now.
en.wikipedia.org/wiki/Visual_prosthesis

You can of course be legitimitely sad for her, and for your family, and for youself, and you will be even if you try to avoid it. Blindness is a horrible thing for a sighted person to think about when it affects their own child. And it's useful to get on with your own grieving cos then you'll be ready to carry on helping her develop in a whole load of dimensions.

And listen to visually impaired adults. There's a great radio 4 programme called 'in touch' which you might have come across already. I can't begin to tell you how much listening to amber's voice of reason here, on a whole range of subjects, has helped me when thinking about ds1 (they share a diagnosis).

Like others have said you are going through a grieving process. Like any other loss it takes time to come to terms with. You'll probably also feel other emotions like anger before eventually reaching acceptance.

When I found out DD1 had Asperger's syndrome it took over my every waking moment. I couldn't say the words to anyone but I couldn't stop thinking about it. I had to rethink my future and hers and come to terms with our the new version. I couldn't enjoy anything about her for a while because I had this shadow over me every time I thought of her.

You have to give yourself the time and space you need to get your head round this and it won't happen in a couple of weeks. There will be a day when it feels ok and you can look to the future and feel positive.

In the meantime may I recommend chocolate and wine, especially if you are contemplating completing a DLA form in the near future?

Thank you everyone for your kind replies. It means so much just to know I'm normal in feeling this way.

Mariamagdelena I will definately listen out for the 'in touch' radio programme.

There are treatments available, stem cell transplants, cornea transplants collagen corneas are in development/first stage trials, but none are suitable treatments for my DD2 right now or within the foreseeable future.

When we first found out about DD2's eyes my DD1 and DSS (aged 11 and 10) were obviously terribly upset, they both said that they were scared because our lives would never be normal again. I remember telling them not to be scared, that our lives would be different now but that would become our 'normal' and we will learn alongside DD2. I suppose now it's time I listened to my own advice.

Thank you again everyone.