Wednesday, January 4, 2012

The Eye of the Beholder

I honestly don't know where or how to start this post. It's been running through my head for a couple of weeks now, and I want to get it out there, as promised a few days ago, but it's going to take some time. I want to apologise to those of you who were worried about us after my last post, and assure all of you up front that we're ok. Here's the full story...

We've always suspected that our beautiful boy had some issues with his eye sight. Our GP advised us to wait until he was a bit older before we put him through the trauma of visiting an opthalmologist. So we did, glad for someone else to be making that call for us. I always thought it would be challenging to assess the eyesight of someone who couldn't yet tell you what they could or couldn't see, so it made perfect sense to me. On a whim, we decided to see if we could get him into a specialist while we were in Sydney recently. We thought, worst case scenario, he might have a lazy eye, or be short-sighted like me. So, on an idle Tuesday, days before Christmas and after D had flown back to Hong Kong for work, I drove us to a tiny paediatric opthalmology practice in Hurstville (a million miles out of my way, and a suburb I'd only ever been to once before) where we waited, and waited and waited. I almost pulled the pin a few times. I didn't want to be there, especially not on my own, and my little man was rapidly losing patience. I was convinced it was a waste of our time, and the time of the doctor who had squeezed us in as a favour to a friend who happened to work with J's grandfather. I was rude to the orthoptist who saw us first, and didn't allow her to put any drops into J's eyes. I just wanted someone to look at him, tell me if he looked normal or not, and be sent on my way.

The opthalmologist was more patient with me than I deserved and took a look at him like I had asked. She told me his eyes weren't "normal" and wanted to put drops in and take a closer look. Then I was scared. I did as she asked, waited for the drops to take effect and went back in with J half an hour later. By that stage we had been there over 2 hours and we were well past J's nap time. While we waited I had called D in tears just as he was about to board a 16 hour flight to New York. If I thought my half hour wait was long, his 16 hour one was excruciating. The opthalmologist looked at his eyes very carefully and talked me through everything she was doing. She diagnosed a very rare condition known as Ectopia Lentis et Pupillae (or ELeP), which basically means that his lenses and pupils have formed in the wrong place, in the opposite direction to each other. He's also really short-sighted, and one eye is worse than the other, so the bad eye is going to be a "lazy eye" sooner rather than later. So when my little man sits with his face pressed to the TV screen, it's not because he's a typical 2 year old, it's because he can't see it.

There's a lot about this condition that we don't know, but we do know that it can't be fixed, and it is progressive (meaning it will get worse), but there are things that we can do to help. We put in eye drops to dilate J's pupils and increase the area of his eye that he can see with. I cried the first time I had to do it, but it's getting less traumatic as J gets used to it, and his favourite stuffed toys now get eyedrops too. He also has to wear glasses. I've been wearing glasses for 20 years, and J's prescription is 5 times stronger than mine, so we're not off to a good start. Also, getting a toddler to wear glasses is like trying to walk a cat on a lead, but we're hoping he'll eventually realise they make life easier.

We had never heard of this condition before, and it's so rare that we haven't been able to find out a lot about it yet, there isn't even a Wikipedia page for it and our local GP had never heard of it. The doctor in Sydney suggested we also consult a neurosurgeon about J's wonky head, a terrifying prospect, even though there's a good chance the two things aren't related. Every time I sit down to research I get frightened sick by all the syndromes this condition is associated with and all the words I don't understand. There's no way of knowing how it will progress or affect his vision in the future. We do know he'll always need glasses, and he won't ever play contact sports, due to the high risk his retinas will detach. He'll probably develop cataracts or glaucoma at some point and may need surgery one day. What we do know about the condition isn't half as scary as what we don't know, and I am so grateful that we found a doctor who knew what she was looking at. I have been terribly busy freaking out about all the potential complications and issues this will raise for J in the future, but a lovely friend reminded me the other day that medical technology has come a long way in the last 30 years, so hopefully by the time J's eyes start to deteriorate, when he's in his 30's or 40's, more can be done for him.

The real blow came when we learned that this is a genetic condition, and a new term entered our vocabulary - autosomal recessive disorder. It means that D and I both carry the gene but we're not affected ourselves. When we first met we discovered we had a lot in common, who would've known that, along with a love of Coldplay and Cointreau, we also shared a defective gene... So, not only are we waiting to see how J will be affected by this condition, we're also waiting to see if our new little one also has it. There's a 25% chance baby will be affected, and a 50% chance he/she will carry the gene but have normal eyes, and another 25% chance there'll be no sign of the condition at all. I'm torn between feeling terribly guilty that we didn't find out sooner, and that we were so blase about falling pregnant again, potentially creating 2 little people with serious eye problems, and at the same time devastated that this has put an end to my dreams for a 3rd baby. We simply couldn't risk it knowing what we know now. We need to have genetic counselling, another nasty term, to find out if there are any other "surprises" lurking in our DNA but, for want of a better term, the horse has already bolted.

I've done a lot of crying and cursing since the diagnosis, and I feel sick with worry one minute, and relieved that it's not more serious the next. I'm angry that the joy of a new baby has been taken from me, and I will be anxious until I know for sure whether or not baby is affected too. Of all the awful things that could go wrong in the human body, this is fairly minor, and while we still have more tests to do, we know how lucky we are that it's not worse. Support from family and friends has been amazing, and has stopped me from heading to that dark, dark place I go to when I worry too much. A million thank you's aren't enough to cover that.

Whatever happens, J is still my bright, confident little man, and I'm reminding myself of that every day. I'm almost grateful that we didn't find out sooner because it has meant that we have always treated him as if he could see normally. He doesn't know any different, and whatever happens, he will always be my beautiful boy, even when he's a grown man who complains about his mother constantly calling to remind him to get his eyes checked. While I'm tempted to homeschool him for the rest of his life to spare him from incompetent teachers and cruel classmates, my hope is that we'll be able to surround him with people who know what they're doing, and who treat him like the great kid he is, and not the funny-looking one with the thick glasses. I'm determined to make sure he grows up knowing he can do anything, whether he can see or not. And as for the one on the way, he/she will be loved the same way - ferociously and completely.

Like I said, we were blindsided completely, and we're still struggling to come to grips with it all. We're on an unfamiliar path without a map, facing specialist appointments, battles over glasses, and big decisions to make about things like schools and treatments, all while getting on with the business of daily life with two kids. Stay tuned.


  1. Thinking about you and your family. Your friend is right...medical technology advances so quickly. And, kids adapt much easier than adults so in the long run, this will probably be harder on you than him. :)

  2. I just wrote a long comment and lost it all! Ah well, I'll start again...

    I have been reading your blog for a while now - I think I found it through geobaby... Like you, I am an Australian living in Hong Kong, and like you, my world was rocked two years ago when we learned that our daughter (who was still unborn) would have a disability which we later learned that we too were carriers of. You can read my blog for the full story ( if you are interested...

    I cried reading your post, remembering the rawness of my own experience. I do want to say though that time does "heal" much of that rawness. At first, I was angry, scared, and to be honest, very ignorant of what Maddy's disability would mean for her and for us as a family. Two years down the road, not everything is rosy all of the time - we still have our worries, things still upset me - and although I am not as ignorant as I was, there are still many many things that I am learning. What I do have now though is a better perspective - not only am I very aware that things could have been so so much worse, but I am grateful for the blessings that Maddy's disability has brought into our lives.

    When I was still at the beginning of my "journey" with all this, I found immense support online. I found blogs, yahoo groups, facebook groups, etc... not all specifically for my daughter's exact diagnosis (it is rare - although it DOES have a wiki page) but for similar conditions, or for some of her specific needs/issues... It really helped me to talk with people who had been through the process and were years down the road. I hope that you are able to find similar support too.

    This still is not something that I would have chosen for my daughter and for my family - we too want a third child and that 25% still scares me... but not as much as it used to.

    Anyway - if you want to chat or email or whatever, you can contact me at - I know that our situations are different - but they do have similarities, and if I can offer you any support whatsoever, I would be happy to do so...

    All the best with your pregnancy and with your little boy,

    Nicole (nicolejoy on geobaby)

  3. I'm so sorry for the stress this must be causing you. I will be thinking of you :) He's still a healthy and from what you say HAPPY little guy, so in the end that's what really matters.

  4. Check out this blog:
    This woman is also in a similar(ish) situation with her daughter who was diagnosed with a rare genetic disorder