The appointment is the usual round of having eye drops, looking at the eye test charts ( bold black letters in a block of 4 or 5 which the practitioner is holding) and W holds a piece of card with the same bold black letters on, and he is asked which one the person is pointing to, and he has to point to the same letter on his card.
The letter size he can see, from a distance of three metres is fairly large, around 6 inches. When he moved down a size, where the letters were around 4 inches big, W couldn't make what any of them were, apart from the 'X', even from three metres away. W got frustrated that he couldn't answer them, but I told him it was fine, and that he didn't need to guess if he couldn't see them. He said it was " all confusing as they don't look like letters" so I asked W what they looked like to him, and he replied, " they look like lots of black dots".
We were asked again to take part in the study that his consultant ophthalmologist (Mr S) is running ( he is doing this study as a side to his regular work at the hospital, as he has a keen interest in nystagmus). This time around W had to look at a computer screen and look at a dot. They then took a photo of me, and uploaded it to the programme.
W then had to look at the photo of me on the screen, whenever it flashed up. The lasers were detecting how long it took his eyes to 'see' the image of me.
We then go back to have the back of his eyes photographed ( I blogged about this from our last visit there, and how the area Mr S needed to see was literally millimetres off of the photograph. You can find that post here - Unintentional Comments and Eye Appointments
This time the photographer manages to get a good image for each eye, and I am mightily relieved!
Our final port of call is when we see his consultant, Mr S.
He looks into W's eyes and confirms his lens prescription for his glasses is adequate and no change is needed.
Mr S views the images taken earlier, and looks at the swab tests he took earlier in the year, and confirms his suspicions that W has a genetic condition called oculocutaneous albinism from the tyrosinase gene.
I had thought he had ocular albinism (as I blogged about before) but Mr S said it was in fact the aforementioned form of albinism. It is a long held misconception that albinism only presents as incredibly fair/white hair, with pale skin. He said people can have brunette coloured hair and still have O/A.
What this means for W is that he has an inherited condition that could impact on any children he has.
This also means my other child, O, can be tested ( my eldest J, who has the severe autism and learning difficulties is excluded by my choice as he will never be married or have children) as he will need to be aware of any genetic condition he could pass down.
Mr S did tell me how the odds work, and that both myself and the boys father will be carriers, or maybe even affected but unaware, and so we are to be tested too.
I have always had comments passed about my fair skin and how pale I am against other people in my family. Photos of me with other people always highlight how pale I am!
It may well be because I too have O/A, but as my eyes are not affected as such, it was never suspected.
All of my children are dark blonde, and I was very pale light blonde as a child. Another clue maybe?
I have had a few days to try and digest this news, and have been on Google trying to learn more about it.
I must say that right now I feel quite emotional about it all. That I may have passed a genetic condition on to my children, and that I have contributed to their disability. My eldest son, J is a part of the DDD study in Northampton, and after three years they finally got back to me with half an answer, which is they have excluded any condition J could have that is not hereditary, and so they are now testing mine and his father's samples for answers, and to see if we have passed anything on to him. The DDD study is huge, and therefore it is taking years for them to test and to collate all their data from every sample taken.
W was, as always, a superstar at the hospital. I had prepared him for the fact he would need eye drops, as the last time he got so upset and it took ages to persuade him to have them.
This time, he knew it would be unpleasant, but he sat down, put his head back, and let the chap administer the drops. He flinched, as we all do, and rubbed his eyes, but he did it, without screaming or point blank refusal. Afterwards he told a few other people in the waiting room, that "the eye drops are okay but a bit stingy".
The next day he was over the moon as we went to the optician to order some new pairs of glasses. Even though his prescription is the same, I thought it was time for him to have some new pairs. He choose a Star Wars themed pair, and a style similar to his current Gruffalo pair. He is currently doing a countdown till the day we can go and collect them!
