Appointment updates

I should be updating this blog about Charlotte’s appointments and progress a little more frequently. At the time I was getting this blog set up, I was posting a lot of archived angst. But we did have a flurry of appointments which I want to report on. (I didn’t want to make too many posts each day, I have been saving some of them to tantalise my readers – oh right, I don’t have any!)

Our most exciting upcoming appointment is with a man whom I’m going to refer to as “Professor Cone”. Apparently, he is the world expert on the genetics of retinal diseases, and has a particular interest in cones. Whoohoo! He is seeing us at the end of May. I am hopeful that we will have genetic testing to nail down Charlotte’s exact condition, that the results will be conclusive, that it won’t be progressive, that it won’t be too severe either. I’m thinking she might have Blue Cone Monochomatism; I’ll put that out there as my hope and see where we end up.

Martin is going to be away (golfing in Ireland) when we see Prof Cone, it’s a real shame. I phoned to try and reschedule and was offered 2 July so I am sticking with 21 May.

In the last two weeks, we have also seen a Developmental Paediatrician and a Paediatric Occupational Therapist. They have both evaluated her as developmentally normal for her age and I am delighted. I am feeling so much calmer about her condition. These reports, coupled with connecting with someone from my mummy listserv with a retinal disease, living a full and happy life, has been a wonderful boost. I feel like I am fully enjoying her again. Sure, she moves her head a bit funny some of the time, but she is lovely and smells gorgeous and is truly beautiful. I can’t wait for my parents to get here and see her for themselves and enjoy her too.