The New Normal

After the initial diagnosis of Josh's eye condition, I went to a pretty dark place. It was heartbreaking, and unfair, and I was guilt ridden in only the way a mummy can be. Then we just got on with it, and I saw him being a normal two year old, and went into a bit of denial. We put his glasses on and integrated the eye drops into the daily routine, but not much changed. When Charlie was born I looked anxiously into his eyes to look for the same tell-tale signs of ELeP, and despite not finding any, still spend disproportionate amounts of time staring at him. After all, we thought J looked "normal" for so long, maybe we were simply blinded by love and incapable of finding any fault in our children. Apart from that, I tended not to think about how this condition would impact on J's life and our future.

That all changed last week. David and Josh spent a week in Sydney and met with a team of specialists. There was the Paediatrician, who will oversee and coordinate all the different specialists we need, the Geneticist, who will help us figure out exactly what we're dealing with, and of course, the Ophthalmologist. So far, it would seem that we have been blessed with a "normal" healthy toddler (insert sigh of relief here). His wonky head is still of some concern, and we have to add a Neurosurgeon to our team sooner rather than later (a sickening prospect), but we have escaped anything really serious (for now). The Ophthalmologist spent a lot of time answering our questions. It's such a freaking rare condition that doctors who recognise it are even rarer, so we got lucky when we found Dr R. She was happy with his progress and filled us in on the next stage of treatment and some pretty big decisions we'll need to make in the future. She mentioned the risk of retinal detachment again, so he'll never play contact sports. And he may never drive a car. Things like that had never occurred to me, and it seems like a trivial thing to fixate on, but it really brought it home to me just how big a deal this condition is. I was devastated. I want to tell my boys that they can do anything they want to do when they grow up, but now somehow it feels like a little bit of lie. J simply won't be able to do whatever he wants, and that hurts. I know these things are a long way off, and hopefully there'll be more options for J in the future, but until then I'm dealing with a very different reality to the one I envisaged for my son. He can still have a great life, but it will be different, and for a little boy completely obsessed with vehicles of every description, it seems cruel to me that he may only ever be able to operate the toy versions of them.

We'll never be able to fix this thing, but we can make sure that J develops as much sight as possible in both eyes. At his age, while connections are still being built between the eyes and the brain, it's a case of use it or lose it. Which means putting a patch over the weaker eye for a few hours a day. Given his response to having to wear glasses I knew this would be a challenge. We had some time together on the weekend, and I decided to introduce the patch, or "special face sticker" as we call it. I put on my teacher's hat, and pulled out a few tricks (and a lot of bribes) and he wore it for a whole half hour. The teacher in me was proud, but watching him tripping over things and really struggling to see, the mummy side took over and I was fighting back the tears.

We've had a few developments with toilet training this week, and I've been wanting to wean him from the damn dummy soon, but part of me wonders if we should be bombarding him with so many changes  at the one time. Then last night he got so excited when he peed on the toilet I realised that we need to keep things as normal as possible if we want him to keep feeling like a normal kid. Peeing on the toilet is a big deal to a 2 year old, and any win is a big win. So while I want to indulge him, I think helping him to grow up, and treating him no differently to all the other toddlers out there, is the kindest thing I can do for him. And in a funny way, these small battles help me stay focused on what really matters.

As for Charlie, his eyes are completely different to his big brother's and a beautiful shade of blue. We'll have to take him to Dr R next time just to be sure, but we are almost 100% confident that he won't have any eye problems. We got lucky, with both boys really, but we're now left wondering whether we'll get lucky again, and if we're willing to take the risk. Read all about it in my next post "The Lottery."