Eye Eye

Today B and I went up to Great Ormond Street Hospital by train to see a retired professor of neuro-ophthalmology (eyes) who has an interest in oculomotor apraxia -the eye movement disorder part of B's disease. He didn't need to see us, I emailed him last year and he was delighted to make a one off for us. The idea being that after so many years of people saying - I am sorry I don't know that we actually spend time with someone who does and log a baseline for someone to take on and monitor regularly.

Today he has told me he has met many children who were born with oculomotor apraxia but B is the first one with a degenerative disorder and of her kind - AOA1. B's vision was tested by the Orthoptist, her movements measured electronically by an eye movements research fellow and examined by the Professor. The report will tell us more but from what they could see, B has limited ability to look to the left and right seamlessly and up and down. It was quite interesting seeing him trying to get her to follow a pen. However he thinks she is adapting well.

He also told me that B has a very unusual thing happening. Those with oculomotor apraxia move their head to compensate their inability to move their eyes so well and the eyes follow. If you are looking to the left your iris/pupil are in the corner of your eye and stay there. B's do not. She has a rare problem by the looks of it with her "oculomotor neural integration". Which means her eyes will move in their slow steppy way but rather than stay in the corner they bounce back. He said how that will effect her in the future, they don't know. Its all tied up with the brain stem apparently.

I will share the key parts of the report when it arrives but as he is retired now, he wanted to ensure that we had a regular Opthalmologist to go to as her experiences with another hospital have been poor due to lack of knowledge on her disease. So B will now be seen by one of the Opthalmologists there - Isabelle Russell-Eggitt - who incidentally a few of my friends and one member of my family has seen. We will see her annually. Better than nothing. They took video of B's eye movements (in a proper recording studio it felt like) in order to compare with next time we go.

B was absolutely brillant there, we were there for 2.5 hours. She did everything they asked her to do without a fuss. The only complaint she had was on a list of rules she wrote to me on the train on the way up - 1) I don't like getting up late. (she means early).

And have I gained anything? Yes, the report will show more and I will post it. Most importantly, somebody is actually interested in helping her and monitoring change and in her extremely rare condition. Apparently they will share the video etc with a doctor in the US who also specialises and is interested in oculomotor apraxia.

So I was worried we would be wasting their time but I don't think we did.