UCL Research

University College London have a page covering their genetic research for retinal diseases.  They have updated for Achromatopsia CNGB3 and it looks like they are planning on moving forward with a clinical trial.  I am not certain if this is the same one as Moorfields are doing.

Achromatopsia link here.

Statement application

The school have asked me to put in an application for a Statement of Educational Special Needs for Ch.  I'm happy to do it because I think she really would benefit from some 1:1 support in the classroom.  She is clever but I think many of the concepts pass her by because she can't comprehend them visually.  Plus, what child wouldn't learn better with 1:1 support?

I've sent a letter to the council requesting that they assess her for a statement.  Now they are in the process of gathering information, they will contact the school, maybe her doctor and then make a decision.

Apparently it can take 3-4 months so I am not expecting a quick answer.

In other public services matters: since she turned 3 she is eligible for the mobility component of DLA and her rate has duly been increased.

CNGB3

...is the gene that is causing Charlotte's Achromatopsia.

This is the most common gene AND the one that they are in the process of planning a clinical trial on at Moorfields.

Good news - it's the right one to have!

School love!

I have to write a gushy post about how happy we are at the girls' new school!

In fact, it is more about her older sister than Charlotte.  We had a difficult school year last year where we thought we had sent her to the best school ever.  There is no such thing as the perfect school but it turns out that this particular one was very pushy, very academic and results-at-all-costs.  Thanks to Charlotte's low vision teacher, we found this one, they could take E at the last minute and now the two little girls are happily at the new school. They are so caring, so mindful of the girls wellbeing, so intent on the best possible pastoral care that I can't imagine they will get anything but the best from all of them and shape them into marvellous human beings.

The funniest part is that Charlotte will end up looking after her big sister!  She told me that next year they will share a playtime and can play together, when I relayed this to Charlotte, she said, "No, I want to play with my own friends!"

Prescription lenses

Charlotte has been prescribed lenses now, +4 in each eye.  After finding the Noir eyeshields online and ordering them from Misouri, I was quite worried about not getting her the right type of lens tint.  Everything I've read from adult Achromats has said that their childhood prescriptions were never as useful as dark sunglasses.

I went to Moorfields to attempt to get the prescription filled there.  I know they customise lenses and also have great frames for kids.  As we are patients there, I thought we had a pretty good chance of being seen.

They were utterly superb in their service!  I feel so fortunate that we have the most marvellous healthcare for Charlotte, they checked the tint, offered to custom tint to try and match the colour, had an exceptional range of frames and were so patient with her when she was being unco-operative.

I can't wait to pick them up and see how they look...

To tell or not to tell...

I'm considering what to tell the other parents from Charlotte's nursery class about her vision.

I can see pros and cons to both sides.  One parent sent a note to all the class parents explaining her son's vision and was so pleased she did.

At this point, I am leaning towards informal disclosure, and not to its fullest extent: "She wears the glasses because they help her see better."  "She has quite poor/very bad vision."

Because it is nursery, the time will go by very quickly and more than half the children will leave by the time they start school.  By the time they move into the proper school, she will have been established for a long time and I feel there will be no need for a big announcement.

 

My main motivation for not telling is that I don't want other parents to worry that they could not take proper care of her.  Not so much this year, but soon they will go for drop-off birthday parties, playdates and sleepovers and I would not want Charlotte to be excluded from these.  It seems that the less fuss I make about it, the less concerned other parents would be about it.

Charlotte's life will be full of decisions about how much to disclose and when so this is just one of the many steps in that road.

GOSH

We're off to Great Ormond Street tomorrow for Charlotte's bi-annual checkup.

I'm dreading it, she is booked for an ECG and I don't want to subject her to it.  I was hoping to have the results of the genetic testing by now so that I could cancel the test but they are not ready.

I am hoping that they might just do the video one and not the whole flashing-light-electrode setup.  I'll speak to them about the tests when we arrive and they might just let us off.

She's not great about co-operating for doctors and I have probably done a terrible job of priming her for this stuff.  I'll have to think of some hard-core bribes.