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.