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Bilateral Asymmetric Coloboma 22 May 2007

Posted by Andy in : Luke , trackback

This has been a difficult post to write, have been re-writing this for the last 5+ months now….

On the day Tracy and Luke were due out of hospital, one of the paediatricians came to give the little fella the once over, apparently this is quite common before they let people out of hospital (a formality, or so we thought). During the exam she spotted something with his eye’s – his iris were “keyhole” shaped. We hadn’t noticed, as he’d been spending most of his time with them closed.

As she was quite junior, she asked the senior paediatric registrar at Simpson’s to take a look. He was great, as we were both getting a little panicked at this point, quickly identifying that Luke has is something called a “Coloboma“, and that we’d need follow-up consultations with specialists who would be able to tell us more. He also suggested that we avoid doing our own research on the web, due to what we might find.

Once we got him home, there followed a hectic couple of weeks just before Christmas, doing the rounds of almost all the hospitals in Edinburgh. Getting Luke tested and screened for the various conditions that Coloboma can be a marker for. Some of these sound really quite awful (he was right, we shouldn’t have looked). It wasn’t a fun time for us, but is was made bearable by the medical personnel we met during this particularly trying time. Everyone was very kind and helpful, answering our questions as fully and honestly as they could. The NHS comes in for a great deal of stick most of the time and it’s only at these difficult times that you realise the quality and dedication of these highly trained people!

On 18th April, Luke had his last consult with the genetic specialists at Sick Kids, with the comforting news that there’s nothing for us to worry about in terms of “syndromes”. This (hopefully) means that Luke only has to deal with the actual Coloboma and nothing more serious.

Coloboma can range in seriousness, from those that are purely cosmetic, impacting just the iris, to the more severe impacting the retina and optic nerve, which impair vision. Luke has the latter.

Dr Fleck and his team at the Eye Pavilion have been, and will continue to monitor his condition over the coming years, but there isn’t a great deal they can do. After the first examination, it was confirmed that Luke’s Coloboma does impact his retina (he’s missing an estimated 50% of his Macular – the bit that you use to do most of you seeing).

Coloboma

As the above illustrates, you notice his condition most when you take photo’s. It’s quite hard when you see a large area of white, knowing that he probably didn’t see the flash, but there is some “red eye”, so he’s going to be able to see something, it’s just a question of how much. The lower half of both eyes that have the problem, which means that it’s actually the upper part of his vision that’s missing. This is positive, as it means that Luke should be able to walk around without too much difficulty. We’re using the analogy of wearing a pulled-down baseball cap to describe to people what it’s like for Luke.

Won’t know much more for now, we’ll have to wait until Luke’s a little older and more able to respond to the testing before we know the full extent of what he can / can’t see. Hopefully, by the time he’s about a year old, we should have a good understanding of his sight range and what this will mean.

So, there you have it. The reason why we’ve added Visual Impairment Scotland to the blog roll links.

Our little man, along with being a Scotsman with English parents and not being born in Yorkshire, is going to have to cope with potentially quite severe sight problems as well.

Comments»

1. Alison - 21 April 2012

Hi,
I’ve just stumbled upon your comments quite by accident and thought that I’d share our experiences – very briefly! My son snuggled in and closed his eyes whilst being fed in hospital and on the fifth day, just as we were waiting for the pediatrician to “check him over” (before being allowed to go home) my son opened his eyes wide and I saw that his eyes were not as expected. He was diagnosed with Bilateral Coloboma.

My son is now 31 and we have never come across anyone else who has the condition. We were given very little detail about the condition at the time and of course we didn’t have access to the Internet back in 1980 (reading your comments about possible “syndromes”, I think that I am quite thankful for that). He has very limited sight in his left eye in particular – however I wanted to share some parts of his experiences with you. My son is a fiercely determined and independent young man and has never let anything stop him from doing what he wanted to do. He is incredibly sporting and has competed successfully at a high level in running, football and tennis. He came out of school with virtually all A* and A grades at GCSE and then progressed to get a first class honours degree, followed by a Doctorate (we won’t mention the A levels – everyone is allowed a “blip” during teenage years). He is now a highly successful and incredibly rounded young man of whom we are incredibly proud.

Our son does have some significant sight problems, but he enjoys life to the full and I just wanted to share that with you.

I can see that you wrote your comments in 2007 and I hope that Luke
is managing to enjoy everything that comes his way too.

Kindest regards.