Tomorrow...

...tomorrow ... is the big day to meet Professor Cone. I have my list of questions ready and I'm prepared to beg for genetic testing.

There have been some results published about a study on dogs that cured achromatopsia with gene therapy. That's pretty exciting. The tough thing about having Charlotte participate in a study (not that we've been asked) is that her condition isn't life-threatening and gene therapy is at the forefront of new (risky?) medicine. If a family had nothing to lose by persuing new treatments (ie. Your child is going to die or be severely disabled regardless) it would be an easier choice, but how can we choose something for Charlotte with an uncertain outcome when the alternative is still a full and happy life?

Nervous jitters

I'm getting ready for our appointment with Professor Cone on Friday afternoon. I hate this. I lie in bed at night, trying to prepare for the worst, but hoping for the best. I feel convinced that this is just part of the cascade of bad news that we have been experiencing ever since Charlotte's eyes first started to wobble.

Of course, we are not really going to have any new information on Friday, this is just to get the ball rolling. Every night I cuddle Charlotte and whisper to her, "Please don't have Cone-Rod, please don't have cone-rod, please don't have cone-rod" but I don't think it makes a difference.

Blinds for the blind #2

I've finally got some blinds fitted for our kitchen windows. I'm not sure they are going to do much more than filter the light but we will put them to the test tomorrow at breakfast when the sun is at it's strongest in there. We can cut the sky at least. It makes me a bit sad because it shuts out the garden which is looking really nice at the moment but I am happy to make modifications to our house for Charlotte because there is so little else I can really do for her.

That said, she is doing so well at the moment that I'm not at all worried about her, either for her development or her future. She is coming along in leaps and bounds, getting more and more physical every day. It's so funny, I have no experience of a baby who behaves this way, Emily was so passive and I have no idea what to do with a wriggly worm of an impatient baby!

Blinds for the blind

I've finally ordered some shades for the kitchen windows. We have windows on three sides, reaching all the way to the ceiling and some are South facing. It's so bright in the Spring and Autumn that we wear sunglasses in there. These aren't exactly light-blocking, more like light-filtering but they were a good price and, given that we either want to sell or renovate, I don't really want to spend any money on the house. Now I have to install them...

A real baby!

Charlotte is doing so well at the moment, she is developing beautifully and becoming very active and opinionated. She is trying to grab my phone at every opportunity and gets so mad at dinner time if the food arrives on her mouth too slowly! She is starting to feed herself too and I am trying to bring myself to let her and not care so much about the mess.

When my parents were here, we all noticed a change in her over the month of their stay. It helps that she is getting bigger and her hair is starting to grow too. She seems to be seeing more at a longer distance and in brighter lighting. I am trying not to draw the shades all the time so that she can adapt to more conditions. More about that later.

Future posts: blinds for the blind, red lenses.

Light or dark?

Depending on what I have just read, Charlotte either has Achromatopsia or Cone-Rod Dystrophy. If she has one, I don't want to over-darken her environment and if she has the other, exposure to bright light could hasten the degeneration of the retinal. Damned if you do, damned if you don't. Welcome back to Motherly Guilt.

She had a good weekend though, the weather was overcast and we practised going without sunglasses most of the time. She was so lovely that I started wanting another baby!

Acromatopsia anyone?

I've been doing more of my amatuer internet research and come across a new term: Achromatopsia.

I think this is what Charlotte's Ophthalmologist thinks she has. She (the Opth) can't confirm this without either genetic testing or further ERG tests over a period of 2 to 3 years because she (Charlotte) could have Cone-Rod Dystrophy. I have to check with Professor Cone if these are the only two conditions that it is possible for her to have.

I'm crossing my fingers for Achrompatopisa. I've found a bit of information, not much, but what I have is very useful: personal anectodes of preferred lighting situations, visual aids and optimal room environments. It is all very helpful no matter which condition she will turn out to have.

Charlotte's VI teacher is coming again today. I was really encouraged by his last visit and his assessment of how good her vision really is. Hopefully it is the same today!

I'm also tossing up about the benefits of us going to a family day out in August. It is run by the National Blind Children's Society at an Adventure Playground for special needs children. I am of two minds about going. She seems a bit young for this sort of thing at the moment, on the other hand, it will be valuable for her to develop a peer group of her own and socialise with low vision kids. She will certainly get something out of a day out, she will be 11 months old at the time. But I am really nervous about being confronted with children and families who are dealing with severe disabilities. I am worried about witnessing disfiguring conditions and also about feeling sad about the struggles that low vision children face. I'm not sure I am ready to confront these things yet. Or ever. I am going to see what Martin thinks. It is on a weekday and he would have to take the day off work. I'm not going to go on my own, logistically and emotionally it is not something I am able to go to without him.