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.