I seem to start every post with “I haven’t written in a while because…”. My excuse this time is because I haven’t known how to put any of the past couple of months into words. If you’ve followed my previous posts, you’ll know that my son is very small and we have had issues with his weight gain since he was around five months of age. I won’t go back over those details again. Save to say we’re on our second pediatrician and the journey has been a stressful one. In April this year the pediatrician ordered poo and blood tests, and everything came back clear. I almost found myself wishing for him to be coeliac so that I could attribute some tangible reason to his failure to thrive. She then referred me to a dietician who charged me a silly amount to tell me what I already know about feeding a small child. Easy when your child eats. Not so easy when they have a volatile relationship with food…on and off and often seemingly not bothered. He reached 9kg months ago and then we all had nine weeks of horrendous illness including three doses of antibiotics (me included) and he dropped back to 8kg. Sooooo frustrating. He has gained 700 grams in the past six weeks because we have discovered that by using the iPad we can shovel rather large amounts into his gorgeous little face, so when he runs out of his own steam, pushes his plate forward and sings “enough!”, we sing “not enough!” and produce the iPad and carry on. My life revolves around this. It is often not fun and very rarely rewarding, until he steps onto the scales and yells out “eight” (which he has been for most of a year) and is suddenly nine. Oh nine, nine, nine. Bring on ten. He turned two, one month ago. At childcare, two days a week, the boy eats well, so we are upping him to three days a week next year. An expensive protein shake. He will definitely protest, but this calls for desperate measures.
But it gets more involved than just battling with mealtimes. I took Zeph back to the pediatrician on 5th November, inwardly and outwardly utterly beside myself with helplessness, wanting support for the lack of weight gain. She momentarily glanced at him but didn’t seem to notice how his little fingers dexterously pieced together bits of lego and how he pointed out the window hollering “tram mummy, look. See it? See it?”, commenting on everything that passed. She had already decided on the path she thought we ought to take. And here came the bombshell: “There’s a rare genetic syndrome called Williams Syndrome. I think Zephyr should be tested for it.” I choked a little bit and asked what Williams Syndrome (WS) involved but Dr K did not want to entertain any discussion about WS, saying that she did not want to hypothesise as he may not have it. I insisted, saying that my partner and I would just go away and google it anyway, and it would be extremely useful to have her input before we went away and did that. She said “Well many people with WS go on to have satisfactory lives.” I felt utterly sick to the stomach. Satisfactory lives. What did that mean? She said that WS people are drawn to music (like Zeph), that they are sociable (like Zeph…kinda…but he is very uncomfortable with strangers until they win him over and he has spent a good amount of time with them…he is a very clingy mummy’s boy and he HATES going to the pediatrician!), that they have chubby lips (like Zeph…also like his daddy, aunt, grandmother and so on) and a wide nose bridge (like my bro! I love that nose). She has never met my daughter or my fella and asked, while she peered closely at Zeph’s eyes (WS children have a distinct pattern on the iris) “Does Zephyr look anything like any of you? He doesn’t really look like you does he?” Ummmm. Floored. “Well lots of people think he does look like me, but he is actually the spit of his daddy, has the same lips and eyes as his Aunt, and sometimes looks frighteningly like my brother.” She didn’t respond. She got on the phone, suddenly had intense conversations with some geneticists at Melbourne Pathology, and I was packed off to Cabrini Hospital to get the show on the road. She told me that the results would take about one month. One whole month. Good god.
I sat in the car not knowing where to start. I needed to know about Williams Syndrome but I was terrified to look. I had to keep my shit together and I felt myself losing it so I chose not to ring my partner to tell him what was going on. Z and I went to the Cabrini where Z screamed the place down as they dragged blood out of his arm. I held him close and poured all the love I had into him. And we went home.
Of course we hit the internet; my partner, my mother and I. And we discovered the world of Williams Syndrome. It is no small thing at all. It could be a life-changer involving, in some cases, serious cardiovascular issues, developmental delays and sometimes extreme learning difficulties…amongst loads of other things. Crushing. A common symptom of WS infants is low weight gain and cardiovasular issues – Zeph has the weight gain issue and a slight heart murmur which doctors have completely downplayed up until now as it is so slight and also so common. WS people also have familiar facial features, respond positively to music, socially often respond inappropriately towards people (super friendly and loving and as they get older this becomes problematic) and the list went on and on. We read numerous positive reports from people with WS children and began to notice that some children were less affected than others and were able to attend mainstream educational facilities. But the vast majority appeared to need special care and many had their lives shortened by major cardiovascular issues.
The results didn’t take one month. They took six weeks. We have spent the past six weeks watching Zeph through different eyes, trying to see if he is slow to pick things up, if his motor skills are not up to speed, if his speaking is delayed, if he is overly friendly towards people, if his facial features are in accordance with those supposedly common to WS children. And we had to just stop ourselves doing this. One minute we’re 100% certain that our wee boy is hitting all his developmental milestones (because he certainly appears to be…apart from weight) and the next we think, well yes he has fat lips and a wide nose bridge and so on like some WS children…but these are also in our gene pools and…and…and…stop. Too much. It was hurting too much to speculate because the blood tests are definitive. Zeph has been walking since 13/14 months, he’s talking, he does all the right things with his hands and feet and I’m so in love with him, I don’t think I’ve known a love like it. These past six weeks I haven’t known which way to turn other than to fall to pieces, then pick myself up again and carry on, over and over and over again because that was our only option.
So I rang the pediatrician at the one month mark to be told that the results were not yet in but that she would call as soon as they arrived. A week later I received a $660 bill from Melbourne Pathology for the tests….a fair assumption was “So somebody must have the results right?” So I rang the pediatrician again and left a message. Nobody called me back. Two days ago, on 15th December, I rang Melbourne Pathology to ask how much of the bill was redeemable from Medicare. While I was chatting to the lovely accounts lady I mentioned that we had not yet received the results. She looked at our details and said, “Oh the results were sent to Dr K on 2nd December, so she should have had them since at least the 4th of December.” I saw red. I rang Dr K. Again, voicemail. I lost my shit and left a furious voicemail. And then I fell to pieces. I cried and cried. Intense frustration. Intense disappointment. I rang my fella. I told him. He rang our GP who confirmed that they had received the results around 2nd December but they were beyond her understanding. Dr K had not bothered to call me. She must surely have known the anxiety, the stress, the agony of not knowing, of speculating about the what-ifs.
Five minutes later Dr K called me back. No apology. She launched straight into it: “The good news is that Zephyr does not have Williams Syndrome” …phew bloody phew…”but” then she carried on. Why couldn’t she just leave it there? Apparently the results show a chromosomal abnormality. A small segment of chromosome 8 is duplicated. Melbourne Pathology have never seen this particular duplication before so it is not known to cause a problem. But I guess it is also not known to not cause a problem. Some duplications have horrendous outcomes and some don’t. It may be entirely insignificant or it may hold huge significance. I won’t discuss possible outcomes here, because we don’t know which segment of which arm of the chromosome is duplicated and even if we did, it is far too detailed and complicated for our inexpert minds to grapple with. This requires a geneticist. So my partner and I were sent off to the Cabrini yesterday to give our blood so that our genes can be compared directly with Zeph’s. Perhaps one of us will have the same duplication, which may bode well for Z. Perhaps we won’t. Nonetheless, this anomaly may account for Zeph’s slow weight gain, or perhaps it has nothing to do with it. Perhaps we’ll never know. We’ll need to see a geneticist to see how this will all play out. One thing is for sure, is that if Z is to be shorter than average, happy days! So be it and let’s end all this please. Bring it on Dudley Moore!
I visited our GP yesterday. She had some interesting things to say. She ruled out learning disabilities and developmental issues as she has seen Z regularly over the past two years and thinks he is a mini-version of us. She, like a dear friend of mine in London, said that these days we sometimes have access to far too much information. Sometimes there are things we don’t need to know. Some information just complicates our lives unnecessarily and causes undue stress. She argued that we could choose to step off this gene wagon and accept Z for who he is, without digging for more information, accepting that he is small and may, or may not always be. She said that before genes testing, so much of this information was simply not available to us, and Z would simply have been accepted as being slow to grow/small. In my brief Googling on this chromosomal issue, I came across an article which said that chromosomal abnormalities are actually quite common; 1 in 200 or so. But many remain undiagnosed, and others are only diagnosed when someone has a problem in adulthood; for example, is unable to conceive, has multiple miscarriages and so on. I had no idea about any of this until two days ago. The things we learn when we become parents.
Of course I am here wishing that we could turn this all around and that instead there was something wrong with ME, which at least I could feel partially in control of. But we must carry on. Nobody can tell us how long these current tests will take, so it is yet another waiting game and trying to suppress our natural inclination to speculate about the future. I sent Dr K a message requesting that this time she be prompt with her communication of the results. She did not respond. Truly? Is it so difficult to acknowledge fault and apologise? We will not be sticking with her once these next results have been analysed.
The up side is that we have our first ever Barbersmith Christmas tree complete with hand-me-down Barber Christmas decorations and a horror-stricken handmade angel who looks like she suffers from vertigo. The sun is shining and our garden has all sorts of things growing in it which is so satisfying…carrots, tomatoes, peppers, chillies, aubergines, spring onions, loads of herbs, flowers and lovelies. The sun is shining and my children play so beautifully together that it feels like the most perfect stage imaginable. Maple still drives me demented and I went to a parenting seminar the other night where there were loads of parents with ‘defiant’ children! Ha! But when she’s good, christ she’s amazing. She is everything you’d want a wee girl to be…just with a fair amount of attitude. She adores us. She’s an emotional creature like her mummy and she visibly fills up with love and then spills over, pouring it over everybody, dishing it out in swathes of enormous, bubbling love-rush. She loves her wee brother with every inch of her and he adores her right back and they are the funniest little pair you’ve ever seen.
I might add that if some of you are wondering why I would bother sharing such personal stuff on this blog, well I think it helps. Not only me, but other mums and dads who are on a similar journey. I have trawled the net a huge amount since becoming a mum, and those people who have shared about issues which have been relevant to me, have often inspired and helped me to do my best.
Love to all, M x