Genetic testing, part 1

Charlotte has been invited to Moorfields to have genetic testing to determine whether or not she has the mutation that would enable her to be a candidate for a possible clinical trial. I'm delighted about the testing, we were going to have it done privately and this is perfect since they have come to us (and we can have it done at no cost!). The rest throws me into a world of mental turmoil. I would love nothing more than for Charlotte to be "cured". But what about the risks? I would have a really, really hard time saying no to a clinical trial, I believe they will be successful, quickly, and Charlotte is so young that she would be likely to have full vision restored with possibly no memory of ever having less than perfect vision. But what about the risks? Even if trials are successful, every treatment will carry risks just in the administration of the treatment. Can we risk permanent damage to even one eye? What if she is an achromat in one eye and totally sightless in the other? Or with noticeable eye deformities? She is just darling exactly the way she is - this afternoon, she was running around in the garden with her big sister, looking for fairies. I know I am getting way ahead of myself here but these are the thoughts that are going round and round in my head. It is so hard knowing that we have to make these decisions for her - by the time she is old enough to make them for herself, the benefits will have decreased significantly. What would you have had your parents do when you were a tiny child?

Baby Ballerina

Charlotte has finally started ballet! She has been asking for ages but, logistically, we couldn't manage the schedule. She is so excited and has been wearing her ballet costume and shoes daily. She is the littlest one in the class so doesn't have the abilities of the others but she keeps up and tries to follow along. She loves older girls too so she is looking forward to Thursdays every week.

GOSH Checkup

We were at Great Ormond Street Hospital today for Charlotte's 6th monthly checkup.

By all accounts, this was the most painless one yet: no tests, no drops, no bad news! It was also particularly unproductive, but who cares? We were done in 40 minutes, which is a record. The Dr said it's a good idea to get her used to attending which makes sense.

I'm kicking myself for forgetting to ask for a referral for genetic testing but maybe I can self refer or get the GP to do it.

School solutions

It looks like we have found the right school for Charlotte! (In fact, her audio Doc was right and we have had a choice of schools for her.) She has been offered a place at a local primary school that has a nursery attached. The principal is wonderful, she asked me to come for a meeting to make sure they could meet any particular needs Charlotte has. After we discussed any classroom modifications (I said nothing in nursery aside from dark glasses), we walked around the school so the I could choose the room that I thought would be the most suitable lighting for her (love!). When I expressed concern about some steps that were red and marked with a black tread, she said, "We'll change it." What a delightful environment! So supportive and caring! They are even going to supply her with her own iPad! I am so looking forward to her starting there in September. I will be meeting with her classroom staff towards the end of the school year, they are going to set up the meeting to include her VI teacher from the council. I think I will take the Achromatopsia.info teacher's guide for them.

Party games

Charlotte had a great time at her sister's party this weekend. She took a while to warm up, but that is not surprising considering her recent disruptions with nursery visits. Once she did warm up, she ran around the room with the older kids, played pass the parcel and joined in a ballon catching game. It was really sweet - I love seeing the sisters look out for each other and enjoying each others company. She refused to wear her "brights" so she squinted the entire time. I have conditioned her into putting her glasses in a safe place every time we get home which means she won't wear any glasses indoors. I must talk her into wearing a different pair indoors.

Nursery no-show

Nursery didn't work out quite like I planned last week. Long story short: she's not attending nursery at present. I had a couple of reservations about this place: the staff were nice but it seemed more like a daycare than an educational environment and there seemed to be an atmosphere that was a little too relaxed (staff not in the room, sticking children in front of toys without guidance, incomplete toys, not knowing all the children's names). I was keeping an open mind because I am happy for Charlotte to be in an environment that isn't too ordered or pressured and it did seem very friendly. When I collected her on Wednesday, she seemed quite happy but she clutched her lunch bag all the way home. I know she likes the bag but I was a little surprised. Then I got home and opened the bag and there was her lunch, untouched. I knew she had been upset when I dropped her off and the fact she didn't eat lunch isn't a dealbreaker for me. What I was surprised about was the fact that they hadn't mentioned it when I collected her. I phoned and left a message, asking them to call me and explain what had happened. I didn't hear back from them for two days. I called again on the Friday morning when she was supposed to be attending again that afternoon. My message was that I was unsure if I should bring her in or not. No answer. I finally heard back from them on Monday afternoon. They said it wasn't a big deal, she was upset, she refused her lunch, they forgot to mention it and the person who collects the phone messages was out for two days last week so they didn't get my messages. I pointed out that there seemed to be quite a breakdown in communication here and it was concerning to me. When the teacher said that normally this wouldn't happen, I pointed out that this is all the experience I have of them so this is my reality, my normal, she didn't really have an answer. I am hopeful that Charlotte will be offered a place at another nursery so I decided that it is better to keep her at home rather than send her somewhere and then move her after a few weeks or months. I wanted to keep the door open so I asked her if I could take some time to think about it and send her next term. She said no, we're either in or out so I said out. Back to filling out application forms...

Nursery prep

I've barely thought about her first day of nursery on Wednesday. I've got her a new lunchbox and bag and I'll put a spare pair of sunglasses in there. We met the teachers and played for an hour a month ago but that's about it. Poor second child: so neglected!