Prof Cone

I have so much to say about yesterday's appointment and I finally have about 5 spare minutes while both of the little girls have fallen asleep (Charlotte on her changing mat - on the floor, with her clothes half off; and Emily in her bed with all her clothes on and the sun streaming in through the blinds).

We were at the hospital for nearly 4 hours and saw Prof Cone for about 10 minutes. We were in danger of not seeing him at all, but more about that later.

First we saw the Orthoptist. I'm not entirely sure what they are and I'm too lazy and disinterested to Google it right now. She checked Charlotte's visual functioning by holding lights and small toys at various distances and angles in front of her. There seemed to be a bit of concern over her right eye because she really didn't like looking when her left eye was covered. I need to keep an eye (!) on that.

Then we had drops, she was an angel, not a peep out of her. They take 1/2 an hour to take effect. After that we saw the Optometrist who measured her focal length. Apparently she is longsighted which is normal for babies at this age as it challenges their vision appropriately. The good news is that she doesn't need a prescription. Good news too because I have just spent over £25 on a pair of sunglasses from RNIB which have yet to arrive.

We talked a little bit about contact lenses but everyone was struck by how she didn't seem bothered very much by the light, even with the drops which generally make everyone more light-sensitive.

The Optometrist said I was next in line to see Prof Moore. I worked out who he was and sat where I knew he was coming to call patients. He came out three times and called three different names. Eventually, I saw the Optometrist again and asked her about it. She confirmed that we were still next. Then someone else called us in.

Uh-oh, this wasn't Prof Moore, this was another consultant working in his clinic. No, I was there to see The Prof, no-one else. It's a bit unfair to call him an underling because he is a consultant, but that's what he was.

I was asking him if they thought it was Acromatopsia or Cone-Rod, or anything else. He spent a long time looking at Charlotte's retinas. I also asked him about genetic testing. He said that there is not any research currently underway so we would enter a database and be called on if something comes up in the future. So I mentioned the study I had read about where they cured Acromatopsia in dogs with gene therapy and were preparing to progress to human trials. He had clearly never heard of this and asked where I heard about it. Um, the internet... Oh yes, it was reported on the website of the Foundation Fighting Blindness. Whew! Thankfully he was impressed and said, "I'd better get the Prof in to talk to you". Result!

When the Prof arrived, he had an entourage with him (often a good sign - or not, depending on your point of view). He also spent a while looking at her retinas and commented on her lack of light sensitivity. He said that every symptom points to Achromatopsia: the type of nystagmus (low amplitude and fast), the age of onset, the results of the ERG and her visual behaviour. I kept leading him back to a discussion of cone-rod and he was nice about discrediting my fears. One of the things I asked him was if it is cone-rod, could Emily have it and we not know yet. He said no, these things usually present in the same family in the same way and she would have symptoms by now. He was really nice about everything really: direct, to the point and compassionate too. When I told him that we have been told almost nothing, he went back through the process of diagnosing the underlying causes of nystagmus.

Thankfully I have done so much reading about Acromatopsia recently. Martin may have thought it was a bit of a waste of time but it really helped me understand what we are dealing with and what questions to ask.

I asked him if there is any point in having another ERG within 6 months and he recommended that we wait 2-3 years. I guess that is because whatever result they show at that time would be the definitive one and any tests in between would merely confirm the final result. Michael says they are painful so I am in favour of skipping them.

We saw the genetic counsellor afterwards. This wasn't to discuss our family circumstances but to agree to go on the research database. She said that if there is a reason to take a blood sample from Charlotte in the future, contact her and she would send a blood pack for an extra vial for them. She said any results could be a year or more away. I asked her about private testing and it looks like it would be in the range of £1,000. Not out of the question, of course, but it could be inconclusive and I don't feel like it is urgent. She is going to get back to me next week with a bit more information.

It is strange that I feel so elated at receiving such a serious diagnosis. One: I feel relieved to have a diagnosis; two: I am jumping for joy that it is non-progressive and the vision she has is the vision she will keep; three: I am delighted for her that she will never know the difference and never know what she is missing. But I am kind of sad that a treatment will be available within 20 years and she probably won't benefit a great deal from it. She will probably be within the last generation of achromats.