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.

Paralympics

As a Londoner, I believe this whole city is really enjoying hosting the Olympics and the Paralympics. There is so much written about the Paralympics and how it is coming of age, world class sport, etc that I don't need to rehash all of that here. I just want to add for the record how proud I am of London and Britain for embracing the Paralympics. I think I am more proud of the Paralympics than I was of the Olympics.

Around the water cooler and in the lunch room, we are all talking about the Paralympics: the coverage, who's going to what events, taking time off to go along, envious of families on the tube, dressed in their supporters gear, heading for a great day out in Stratford. It's the Olympics all over again, not Olympics-lite at all!

I just wish Charlotte could have been a few years older to enjoy all of this with us.

Passers by

I met my first blind adult recently – at the Olympics. It was really nice to have a conversation with a blind person about blindness and realise that it is not the defining feature of their existence. I am afraid that we (I) do still define strangers by their disability so it is really nice to get the opportunity to get past it and be normal human beings together, even if we are talking about living with a disability. We were standing at the barrier waiting for the men’s triathlon to start. I heard his mother talk about how he is blind so I really wanted to strike up a conversation but felt a bit awkward about just diving in. He had no visible signs of blindness - his eyes looked normal and his cane was folded away. I waited a while and had a much better opportunity when his mother gave him very specific directions about how to walk around a chair to get to a better spot. I said, “Oh, do you have a visual impairment? So does she [pointing to Ch].” After that, we had an excellent chat, I told him that he was the first blind adult I had met in real life. He replied that he doesn’t mind it if people stop him in the street but I fear that many would not be so amenable. In fact, the most useful titbit of information I gleaned is that Disneyland and other theme parks give discount entry and priority queueing to blind people and their companions! He said his friends make him go on all the rides, even when he feels green – shame on them! He has had some other health issues which have been ongoing since childhood but all in all, he was very good company and I left our encounter feeling thoroughly uplifted. Thanks stranger!

Nursery induction

Charlotte had a good time at her nursery induction.  She didn't want to go and then, of course, she didn't want to leave!  She played with paste, glitter and playdoh - all the things I never let her touch at home so she had a ball.  She was doing lovely imaginary play over the playdoh with the teacher, they made cupcakes and worms and the worms ate the cupcakes.  I didn't need to be there at all.  I am going back next week for a meeting with the head, the teacher and the special needs co-ordinator.  The teacher knew a bit about Charlotte but not much, none of the classroom assistants seemed to know about her so I was a bit surprised about that.  Maybe they were expecting someone but didn't think she was the child because she is so capable.  They will figure out what she needs as time goes on, they don't need to know everything in advance.

Moorfields visit

Our visit to Moorfields today was technically a success. Emotionally, it was difficult, more for Charlotte than I - she really didn't like her blood draw. Poor kid. The numbing cream didn't seem to work, or if it was working, it would have been even worse without.
I got to talk to the Dr who is running this project. What they are doing right now is a genotype and phenotype "catalogue" of patients with Achromatopsia.

The interesting points about the future trials are:


- they expect to start towards the end of this year. Certainly within 12 months.

- the first trial will be of 12 patients but could be extended or rolled into a second trial vey quickly.

- they will be taking patients as young as 3 but the majority will be in their 20s and 30s.

- even 20 and 30 year olds are expected to benefit to some extent.

- having one treatment would not preclude a patient from having further treatments.

- children with Leber's, in a current study, have not had as good results as adults; they suspect this is because children, who have healthier retinas, are not receiving enough of the virus to overcome the diseased genes and be effective

- as I expected, the safety issues would be mostly around the procedure itself. The vitreous fluid would be drained which is incredibly routine, the retina would be encouraged to detach, which is normally not encouraged, but expected to recover within 24 hours. Risk of infection and other surgical risks would apply.

- they expect that Charlotte would be treated as part of a trial rather than as part of a proven treatment.

Next steps:
- visit a Dr in Leicester who has a handheld retinal imaging machine which is effective at getting a good image in children.
- wait 3 months for the results of the test to determine if Charlotte does, in fact, have the gene they are looking to treat.

Moore and Moor

Another call from Moor(fields) today. They want to meet us next week and do a clinical exam and ERG as well as the blood sample. I had a chance to ask about the trials and what stage they are at. I gather that they are trying to collate a pool of possible trial subjects and future patients so that they can go ahead and apply for permission and/or funding for the trial. Clearly, they expect to have some success on this or the genetic counsellors would not be working so hard on it. I have very mixed feelings about gene therapy. On the one hand it seems like one shouldn't mess so much with nature/God. On the other hand, gene therapy really will cure diseases in the future. Scientists have been messing with nature/God for a very long time and this is the logical next step along that path. But why does it have to be my child who is at the forefront of this new wave of scientific discovery/experimentation? Still, I know I am fortunate that my child has the opportunity to participate in new treatments in time to benefit from them.

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!