Achromatopsia in the press

Well, ok, so it's not mainstream media but Woman's Day is about the most widely read weekly woman's magazine in Australia so it must count for something:



Aside from calling it "Chromatopsia", it's quite nice to have any of these kind of human interest stories that raise awareness. I do think the parents missed an opportunity to raise funds for research and gene therapy by mentioning some such organisation as Foundation Fighting Blindness or Australian equivalent. It's a pity they didn't reference any future possible treatment at all. It might have given the story a little more poignancy or urgency. Maybe it's not the magazine's policy, but I couldn't see a particular point to the story (it's mainly just, "Here's our blind kid").

I do get sad when I see pictures of children walking with white canes. I am very, very much in denial about this part of Charlotte's future. I know not all Achromats use them but it has been a bit of a shock to realise how many actually do. I still joke that a guide dog is the only way this family are getting a pet!

My Mum has been very comforting about this for me. She is very good about the one-step-at-a-time stuff (so is M, so I am very lucky), she said that whatever Charlotte needs at whatever time, I will be glad to get for her and I will adjust to whatever it is at the time it is needed. One step at a time. And don't borrow trouble.

A normal kid

We are too boring to be interesting to medical professionals. I love that! Charlotte was discharged from the Developmental Paediatrician today. We were going as a monitoring exercise and he has seen us twice. While he was examining Charlotte today and she was co-operating, chatting, making eye contact, smiling, he looked at her and said, "Look at her, what can I say?" I said, "She looks like a normal kid." Exactly. Move along folks, nothing to see here.

She also has a new tooth and it seems to have been bothering her because she was in the sweetest mood today. We had a lovely time and she is such good company. Emily was off sick from school today so I didn't get the long Charlotte-day that I was hoping for. But Emily wanted to sleep much of the day so Charlotte and I did have lots and lots of one on one time. She is just darling!

Silver linings

Picture this: it's December, you have to go shopping for gifts, the cars are queuing up at the mall just to get into the parking lot, all the spots are full, but there are 15 empty bays right by the doors. Disabled spots. Mine!

We qualify for a blue badge and I'm sure as .... going to use it. Well, once we get a car. We've got all the paperwork for Charlotte's registration and we also get 50% off our TV license and she gets free bus travel. It ain't much but I'll take it.

And if anyone wants to trade: I'll give it all up for two (or just one) retinas full of working cones. Apply below.

Now she's cruising!

And getting ready to climb. She only started crawling about 3 weeks ago. She's ready to head off on her own. Emily was nowhere near this advanced, she didn't take any weight on her feet until 13 months. But Charlotte still only has 4 teeth and doesn't really speak so it just goes to show how different they all are.

"Ma-ma"

Going to the hospital on Tuesday did affect me more than I thought it would. It was a pretty sad day. But after a little cry that evening, I've been ok since.

Because I was feeling so down, I worked extra hard to get Charlotte to say Ma-ma for the first time, and she did!

She said "Da-da" a while ago but doesn't say much very often. (She probably has no opportunity with Emily around, making so much noise.) But when I was bathing her that evening, alone, she was making lots of sounds so I worked on having her watch me say "ma ma". She stares intently at my lips when I am making sounds, like she is really trying to look at how they are made. I am surprised by how visual it seems to be for her. I guess I thought that speech was mostly aural and she would just start making proper sounds on her own. I think I will have to start spending more time speaking clearly very close to her face so that she can see my lips moving properly. This is something I guess we take for granted in a fully sighted child who can see our lips moving across the room.

Back to school

Emily had her first day back at school today (thank goodness!) and it went very smoothly. I'm giving myself huge pats on the back for talking about going to school and wearing the school uniform with such successful results! She told me last night that she was excited about going to school and this morning she asked for breakfast at 6am so that she could put on her uniform straight afterwards.

The really cute thing today at drop off was watching Charlotte in the classroom. The parents hung around for a bit as the children settled in at the tables to do puzzles or colouring. I stood Charlotte up to one of the tables and she was grabbing away at the puzzles in her amber sunglasses. It was lovely how natural it seemed for her to be there and the other children didn't think anything of it (well, Emily was a bit upset when Charlotte grabbed her puzzle). It was like nothing to her.

I hope that we can stay in the same school community for most of Charlotte's schooling. This would give the children a chance to grow up knowing her and then they can get to know her for her other attributes, rather than always seeing her as the blind child. Problem is, this is a very transient city and neighbourhood and we are not even sure where we will school her at the moment. It depends where Emily goes.

Registered Blind

We were back at Great Ormond Street today to see Charlotte's primary Ophthalmologist. She had a letter from Prof Cone after our appointment at Moorfields so she was able to confirm the diagnosis of Achromatopsia. I requested and she offered registration for Charlotte. They can put her down as Severly Sight Impaired/Blind based on the expected outcomes for people with Achromatopsia.

I've been expecting to register her for some time so it's not a terrible shock or anything. At the same time, it does feel that this moment has some gravity. The form quotes that registration defines her as "disabled" under the Disability Discrimination Act, so it is quite a big deal the day one's child is legally defined as blind and disabled.

At the same time, I am not really feeling the weight today. This is nothing compared to the way I felt in the early days of Charlotte's impairment. We have known this for so long that this is not unexpected, nor a huge shock. Clearly, it is a path we would rather not travel but I see these legalities more as an opening of opportunities for her, rather than limiting her capabilities. We will have an easier time accessing any available services (not that this has been difficult to date), which will be very important for her education, and we can apply for disability benefits which we will put in a bank account for her as a nest egg for when she is older.

She is also the proud owner of some new eye patches. The Orthoptist at Moorfields noticed some weakness in her right eye in May, then I saw it in some photographs. It's not obvious when you look at her but when you cover her left eye, she is really insistent on uncovering it fast. I mentioned it today so they reported on it. Unfortunately, I said the right eye and I should have asked them to identify which eye it was (consultant pointed that out to me). Anyway, she said there wouldn't be any harm in patching for 1/2 to 1 hour daily and seeing how she gets on. Clearly she (Ch) is not going to like it so she also said that if it is really not working out for us (or the left eye is getting weaker), we can relax about not doing it too. Awesome, I love no pressure medical interventions!

I guess I should go in there right now and get the first patch on her but she is playing by herself so beautifully that I hate to disturb her! Maybe when Emily wakes up and we can all play something together. I think breakfast will be a good time to patch because she likes to eat and then it is done for the day. Poor little thing, it will probably irritate her already sensitive skin terribly. But it was me who asked for this and I would hate to miss an opportunity to do something for her when it is not such a big deal and have it turn into a big deal. She will look less blind if both her eyes move in unison and her vision will be so much better if they are both working to their full potential.

So that's it for today. Quite a lot of meat but no real changes to the bones of this thing.

Future post: thoughts on working mothers of disabled children a.k.a. my justification for getting out of the house and into the office!

Day off!

Work was somewhat overwhelming but I got through it and I realise I don't have to get everything done on my first day, or first week, back.

One of the reasons I love working is that it makes me appreciate my time at home so much more. I loved being at home with the kids today, I don't think I even shouted all that much. (Certainly less than I have been over the summer holidays.)

What did I wear in the end? A pink top with ribbon trim neckline, grey wool pants and black patent heels.

Heigh-ho, heigh-ho, it's off to work I go!

Tomorrow is my first day back at work after 13 months of maternity leave.

I have no idea what to wear. I don't think my daily uniform of jeans, ballet flats and a cardigan will work at the office, a suit feels like I am trying too hard (and none of them fit properly anyway) and black trousers with a white shirt just screams: "I didn't know what to wear." But I'm ok for shoes and bags!

Other (minor) complications: we're still breastfeeding and I'll be dropping her last daytime feed tomorrow, I am going to miss her terribly, she is going to miss me more, Emily is old enough to know what is going on and might decide that she doesn't like it.

Despite the "first day of school" jitters, I am looking forward to going. Shallow joking aside (drinking a coffee while it's still hot, not hearing "Mummy! Mummy!" every 30 seconds, going the toilet with the door closed), my reasons for working are many and varied and I am delighted to still be part of the workforce.

We'll see how it goes...