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.

Head Case - Part 2

Thanks for the comments Lesley; I’m so glad to know people are reading! It’s also reassuring to know that our favourite geneticist had a conehead and still turned out brilliantly. My main worry has always been the potential for problems with J’s growth and development in the future. There is just something in the way he tilts his head to the left when he looks at things, the way he sleeps with his left eye open and the way he sometimes grabs that side of his head as if it hurts that has me worried. I might be crazy and it might be nothing, but I still worry. I have also experienced a bit of this anti-mummy sentiment you mentioned and I agree, it isn’t right. I was in tears one morning in the hospital after J was born and the midwife was scolding me for letting him sleep through a night feed, practically accusing me of starving him for my own selfish ends (i.e. a desperate need for sleep!). As if being a mum isn’t hard enough, we do not need the critics! It is a cultural thing here I’m sure. There are so many cultural differences that it would take me a month to write about them all; but I do want to use this opportunity to talk about one in particular. It seems fairly standard here to simply trust what the doctor tells you, and we’ve learned from first-hand experience that they’re not always right. This mindset can lead to expensive, traumatic and often unnecessary intervention. A friend was rushed to hospital and had her appendix whipped out before the doctors discovered she actually had a uterine infection after a caeserean section.

We’re lucky we have a good GP but we have encountered other medical professionals that expected us to do as we were told and who struggled when we questioned their advice. Like the male obstetrician that dismissed me as an “irrational and emotional woman,” and spoke only to my husband. Or the “doctor” at the local clinic who told me J was cyanotic and probably had a heart problem, ordering me to take him to the hospital for tests, when he was simply cold from sitting in a frigid waiting room for 2 hours! By that stage I was blue with frustration and impatience! We are lucky that we live in a modern city with access to a great number of professionals from all over the world, but we have learned that it may take several appointments before you find someone you can trust, and you really have to trust your own instincts. Whenever we talked about all this with people they would often say things like “he’s such a happy baby, leave well enough alone, there’s nothing wrong with him.” At times I felt like I must be crazy for pursuing treatment for my very healthy, normal child, but it didn’t feel right letting it go.

When we came back from our recent trip to Melbourne we went to see our GP for J’s vaccinations and she was also concerned about his forehead and the movement of his left eye. She referred us to a paediatrician to cover all bases. The paediatrician assured us that J was on track developmentally so there was nothing to worry about. Like a lot of people she also felt that it was his appearance we were most worried about. Appearances and perfection are very important in the Chinese culture so it makes sense that she would think that, but as I said, it was the furthest thing from our minds. To us, our son is gorgeous, so it wasn’t an issue. She also explained that the bones were not pressing on his brain as we had feared, but he would remain “asymmetrical” for the rest of his life, as his skull bones were already fused. I’ve done a lot of research on plagiocephaly, the technical term for flat-heads, and I was pretty sure that this wasn’t true. She wanted J to have an ultrasound and an x-ray to confirm her diagnosis and at one point mentioned sedating him for an MRI, even though she was sure nothing could be done to “make his face better.” Another common condition in the medical community here is the reliance on medication and invasive tests. There seems to be no intuition or common sense, it’s complete trust in science over independent thought. Some tests and medications are necessary I’ll admit, but putting a very active 7 month old through an MRI is not only unnecessary, in this case, but a subtle form of child abuse as far as I’m concerned. Once again we left a doctor’s office in disbelief; disappointed and disheartened by what we had been told.

Then we got to talking with friends who had similar experiences. Their son had a flat head from sleeping on his back and they had been referred to a paediatric osteopath in Wan Chai. They called us with rave reviews after their first appointment and we decided to give it one more shot. Well this woman has magic healing hands. She told us what we wanted to hear and we believed her. She clearly adores children AND she knows what she’s talking about. There’s a noticeable difference in the shape of J’s head after only 2 visits, and yes, his face is more symmetrical. She has suggested we see her once more and then let J grow a little to see how his bones respond to the work she’s done. I love that she is knowledgeable and kind, and she isn’t making promises she can’t keep. She charges $750 a session and it’s worth every cent, for the peace of mind it brings me as much as for the changes we’re seeing in J. At the end of the day I’m so glad we persisted, despite the obstacles and poor advice, and people thinking we’re a bit mad. We do have a beautiful happy baby and now we can honestly say we’ve done everything we could to keep him that way.

So I feel like I’ve been on my soapbox all week and I hope that I’ve been at least informative, if not entertaining. Have a great weekend and look out for my latest update on Monday xx

PS: If anyone in HK wants the details of any of the practitioners I’ve mentioned leave a comment with your email address (I won’t publish it) and I’ll send you the info.

Head Case - Part 1

Tonight’s post, as you can probably guess, is going to be in two parts. I realised as I was writing that it was going to be quiet long, so to spare you a whole lot of reading in one hit I’ve broken it up. The little man is not in the best of moods today and wasn’t at all interested in breakfast or his morning nap. I took him to the osteopath yesterday and grumpiness after a visit is not uncommon apparently. For those of you that don’t know the history, allow me to explain why we’re seeing an osteopath. In the late stages of my pregnancy J was lodged firmly in my pelvis for about three weeks. It was rather uncomfortable for me as you can imagine and left him with a bit of a cone-head after he made his grand entrance (or exit?). This gradually subsided but he was left with a rotated sphenoid bone in his skull. In other words, he had a flat area on one side of his forehead, and on the opposite side at the back of his head he had a lump. We were told not to worry; it would correct itself. It didn’t.

Our GP (a woman so wonderful, she deserves her own website) referred us to a physiotherapist in Central who “specialised” in baby’s heads. Some professionals believe that a misshapen skull can impact on certain nerves in the brain and spinal cord and this can contribute to colic, reflux, sleep problems etc. We’d experienced all of those, and wondered if his endless bouts of crying in the early days were his way of telling us he had a headache. We were desperate to give anything a try. The physio we saw, let’s call her S, was nice enough and seemed to know what she was doing. J was always very chilled out after his sessions but after about 6 visits we hadn’t seen any improvement in any of his symptoms. S admitted that she’d reached the limits of her abilities and recommended a session with her boss, the head of the practice; we’ll call her C. I was excited to meet the woman who had developed the baby head-shaping method. It seemed we would finally be meeting someone who could help our little man. I could not have been more wrong. She started later than our designated appointment time and was instantly attacking me: I should’ve brought him in sooner. Why didn’t I have physio while I was pregnant to prevent this from happening? Why was he on formula? He was “clearly” allergic to something in my breastmilk, why hadn’t we been tested for sensitivities (more on that fascinating process later)? I had a valid response to all of these attacks but was left feeling very defensive and this did not bode well for the rest of the session. She told me it was probably too late to start treatment, and when I suggested we leave she quickly offered to try something. J picked up on my anxiety and was restless and a bit cranky. Every time he started to complain C would throw her hands in the air and say “I can’t work on him while he’s like this, you need to settle him down.” She didn’t interact with him at all and didn’t seem to have a natural way with children. At times she waved her hands over his head as if performing what I can only imagine was Reiki, and before I left she explained that I needed to think positively when looking at J’s head, as my negative energy was preventing him from healing. I’m a firm believer in the power of positive thinking and I do believe there is a place for alternative therapies, but I don’t believe that moving the air above my son’s head and telling me to project positivity will improve the shape of his skull in any way. Any negativity I was feeling was purely a product of being in that room, it had nothing to do with my beautiful son and his wonky forehead. She then concluded the session early and charged me $1800 HKD for the privilege! We decided to let J grow for a while after this experience, and take a wait-and-see approach.

It was tough trying to decide whether or not to take any action in the first place. It was his head after all, and I was so concerned that we might do long-term damage. More concerning was the idea that the bones were pressing on his brain or that he’d have all sorts of issues in the future with his eyesight, sinuses or worse. It didn’t help that a few of the professionals we spoke to thought we were only worried about how he looked. They just didn’t understand that it wasn’t aesthetics we were concerned with. When talking about it with friends most of them have said that they have never noticed J’s head. I guess it was because he had always been that way, but I definitely noticed every time I looked at him. I know I could not have helped it but I have always felt responsible. I know some people thought we were a bit mad seeking treatment for something that most doctors believe children grow out of. At the end of the day we decided to persist, knowing that we’d never forgive ourselves if we ignored it and he didn’t grow out of it.