Invisible Disabilities (Otherwise known as … “She seems fine to me”)

Some kids with special needs have obvious challenges. They may be in a wheel chair, or have a naso-gastric feeding tube, or facial deformities, or missing limbs. Something that people can see, that people may make allowances for, and (hopefully) have compassion for.

Then there are the millions of kids around the world who have “invisible disabilities”. Kids who scream and hit and bite their parents in the supermarket. Who then get judged for being “brats” and whose parents get judged for being “bad parents”. Or the kids who get bullied at school because they have two left feet, can’t throw or catch a ball and run with their hands flapping wildly in the air. They always get picked last for sports teams. They sit there, humiliated, knowing no one wants them on their team, not knowing what they can do to make it better. Or the kids who continually interrupt, droning on and on about topics of interest only to themselves, blurting out tactless comments and then getting worked up when something seemingly insignificant goes wrong. They have trouble maintaining friendships and look on miserably from the sidelines at the other kids playing and chatting together, wondering what is wrong with them and why “nobody likes them”.
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Spare a thought for those kids. And their parents. The first child may have sensory processing disorder. They find the sensory input at the supermarket impossible to deal with, and don’t have typical emotional regulation due to neurological differences in their brains. So they panic and lash out. Their systems are in overload and their behaviour is NOT a sign of bad parenting.

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The second child may have low tone (hypotonia). This is a neurological disorder that means the messages from the brain to the body don’t work as quickly as they do for other kids. In reality their body will never be as strong or agile as every other kid in the class, and they will always have to work harder just to do simple things like use a knife and fork and stay upright in their chair at school.

The third child may have high functioning autism (Asperger’s syndrome). Their neurological differences mean that the subtleties of body language and social graces are lost on them. Unlike typically developing children, children with autism need to be specifically taught about emotions, and body language, and a myriad of other things that most of us never have to think about. On top of that, the part of the brain that is designed to detect potential threats (the amygdala) can be overactive in autistic children. So something that seems harmless to us can cause a huge release of cortisol and adrenalin in these kids, which then activates the fight/flight response. This overrides the “thinking” part of the brain in the pre-frontal cortex, and means that autistic kids (and adults) can flip into a state of panic about seemingly mundane things. They aren’t being precious, they aren’t deliberately being rude, they aren’t “chucking a tantrum” to get their own way. Their brain has flipped into survival panic mode. It can take lots of training and immense self-discipline for these kids to learn to “self-calm’. Some may never learn, despite their best efforts and the best efforts of everyone around them.

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The differences these kids live with don’t magically get cured, or disappear, or get better simply with the passing of time. Neuroplasticity is an amazing thing however, and improvements can and sometimes do happen. But not without significant intervention and hard work by the child and all of the people in that child’s support network. Intervention that takes time, and effort, and costs money, and often requires the child (and sometimes the parents) to push themselves continually beyond their comfort zones. Sometimes those kids can make great improvements. To the point where the casual observer can’t quite pick the problems, and wonders what all the fuss is about. And then tells the parents that the child “seems just fine” to them. And the child may indeed seem “just fine”. But things may look a little different behind the scenes.

Children with “invisible disabilities”, including my own daughter,  are often working extremely hard to function as well as they do. Unlike other children of their age, they don’t always learn things just by observing. They often need to be explicitly taught things that other children learn easily and naturally as part of “normal development”. Many kids who seem “just fine” are attending therapy sessions five or more times per week so that they can make some attempt at keeping up with their peers. Sessions which require them to concentrate, to work hard, to sometimes push themselves past their limits. They are often overwhelmed by loud noises, or too much visual stimulation. Their bodies may tire more easily than other children, their attention spans may be shorter. So everything requires that extra effort. The kids who seem “just fine” are often working very hard to achieve that. And very often their parents are working hard along with them.

I know from my own experience, and from talking to other special needs parents,  that many of us can struggle with finding the time and energy required to deal with the system. We worry about the time we have to take off work to attend medical appointments and therapies, and the subsequent effect that has on our career progression. Many of us have costs we never imagined having, and earn less each year because we can’t manage our child’s needs and a full time job (at least not without losing our sanity). We are climbing down the career ladder, not up it.

We scrabble to find the money required to pay for the therapies, and to find the effort and discipline required to implement the therapy into the home environment. We rearrange schedules to fit in trips to the doctor for medical certificates just so our children can be approved to have swimming lessons, or go to ballet. Because we live in a crazy world of litigation, and no one wants to take a kid into their class that might have a higher potential for injury unless they have a doctor’s clearance.

And then there is the paperwork. The crazy mind-numbing paperwork. Dozens of pages to fill in to qualify for a miserly $52 from the government each week for “disability support”. Literally hundreds of pages of paperwork to deal with each year. Seriously. Sophie has just turned six and I have three ring binders that are bursting at the seams, filled to the brim with therapists’ reports, medical reports, funding applications, treatment protocols etc. Stack them together and it equates to more than 10 inches of medical paperwork. Meetings with the school at least twice a year (on top of all the regular parent teacher interviews) to negotiate an Individualised Education Plan for your child. And ad hoc meetings to follow up on that plan, because more often than not the things that are promised to help your child are never implemented. And it falls to you as the parent to fight the good fight with the school to ensure that “inclusive education” policies are actually followed.

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Parents may be struggling with chronic sleep deprivation, because their child has ongoing sleep disturbances. They are possibly exhausted from holding down a job, managing a home, managing their child’s additional needs and then staying up late to home-bake the speciality foods their child requires to stay healthy. And they are almost certainly dealing with the ever present niggling anxiety of the “what ifs” and “what will be”…What if that elevated urea level in her blood keeps creeping up, and we are looking at kidney failure? How long until he will need those knee replacements? Will her hearing test be okay this time? Will he be able to live independently?

Then there is the constant questioning of our roles, our values, our choices.. Where do we draw the line? How much therapy is not enough? How much is too much? How much time should we dedicate to helping our kids with therapies and nutritional interventions and alternative medicine and mainstream interventions? How much of our time and resources do we dedicate towards trying to give them the best chance of getting on in the big bad world, and how much time can we spend just being regular mums or dads, loving our kids, playing with our kids? Should I sell the house to pay for his therapy? Or keep the house in case he can’t support himself later? Is it okay for me to spend that $200 on going away for a family camping weekend when that could cover two therapy sessions? Is it okay for me to have a life, have some fun, buy some flowers for the garden, when I could spend that money on therapy? How can I ask for people to contribute to her fundraiser, when I just bought myself a new shirt ? How do we find a balance, how do we do all of this and not lose ourselves in it all? Sometimes we don’t find a balance. Sometimes things swing wildly out of control. Sometimes we caught up in it, lost in it, buried in it.

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Special needs parents may find themselves withdrawing from friends, cancelling attendance at social events, forgetting to reply to that email or text message you sent to them. At their times of greatest stress, they may become cranky, oversensitive, hard to be around. You see once loving couples sniping at each other, or withdrawing from each other, or running away from it all by resorting to affairs, or one more glass of wine, or just another few hours on that computer game. And it can be hard to understand these changes you see in these people you thought you knew. Because without knowing what goes on behind the scenes, what you see is a kid who “seems alright to you”. Things can’t be that tough can they? What is the big deal? I’m not saying our lives are one big ongoing tragedy, that we limp through each day hating the world and everything in it. Our lives are full of joys as well. But the reality is that our experience of parenting can be quite different to the experiences of parents with neurotypical kids. And that in cases of “invisible disability”, much of the struggle can be hidden. And that’s a lonely place to be.

Don’t get me wrong, I’m not saying that kids with “invisible disabilities” have it harder than children with other types of disabilities. Parents of kids with highly visible disabilities get all of the same work and stress and financial distress, sometimes more, much more. This isn’t a competition. We are all in this together. I’m simply focussing on what I call “invisible disabilities” today in the hope of raising awareness around something that isn’t so easy for a casual observer to see.

My own daughter, Sophie, has challenges that may not be readily apparent to someone in the street. Things you may not see unless you live with us.. Things you may not notice if you haven’t had exposure to the secret world of being a therapist, or an educator, or a doctor, or a special needs parent. But challenges that exist nonetheless. Challenges that affect her every single day, and that will continue to affect her for the rest of her life. Challenges that she works damn hard at therapy to overcome. But in many ways she seems “just fine”. So she sometimes doesn’t get cut slack in areas where she needs it. Sometimes I get tired of feeling like I have to explain my daughter’s behaviours, or justify why I might use a particular parenting technique. Sometimes I get tired of feeling unsupported because people think she is “just fine”.

Again, don’t get me wrong, I’m eternally grateful that Sophie doesn’t have to deal with some of the really serious issues that other children with special needs have to deal with. She isn’t in a wheelchair, she hasn’t had to have heart surgery, she walks, she talks, she eats, she jumps and laughs and plays and dances and sings. She has an incredible memory and, at just six, a vocabulary that any twelve year old would be proud of. She lights up my life with her joy and enthusiasm. And I never cease to be grateful for these miracles. In many ways, she IS just fine. And hearing that is sure as hell better than hearing the alternative…”Wow..she seems really f8cked up!!!” But hearing it can sometimes feel dismissive of the challenges she has overcome, and the challenges she still faces each day.

Sophie has low muscle tone and hyperflexible joints. Big deal you say. And yes, compared to being in a wheelchair, these things are a breeze. But these issues affect many aspects of her day to day living. They affect her speech articulation and her fine and gross motor skills. She only just became safe to walk up and down stairs without supervision this year, and only learnt to take her own shirt off about six months ago, at the age of five and a half, A skill that most kids have achieved by the age of two. She only became really competent with a spoon this year, and still spills things much more often than you would imagine. Her low muscle tone makes it hard for her to sit in a seat in class for any length of time. She uses a back support, and a tilted desk, and special pencil grips, and a wrist support to help her in the classroom. Yet still she struggles to keep up with the kids in her class. Not because she isn’t smart, but because her hands can’t get the pencil to do what she wants it to do. And then her low tone makes her tire easily, making it difficult to concentrate, and hence difficult to learn Her sensory issues mean that she is under constant low level stress in the classroom, because 25 prep students make noise. A lot of noise. And that noise throws her system into a state of disarray. So then she can start to act out. Or withdraw.

Sophie’s Asperger’s and sensory issues means that she has difficulty in the playground. Observing casually you may not see anything out of place. Looks like she is playing and getting on just fine. But if you take a closer look you will see that at school she is always engaging in parallel play – playing beside the other kids, not with them. Lost in her own little imaginary world of fairies and unicorns. Which is not in itself a bad thing – hell, I love fairies and unicorns. But it is a problem when Sophie wants to be part of the joint play, and just can’t figure out how to make that happen. A child of her age should be well and truly capable of a reciprocal social interaction with peers of up to 15 minutes, and Sophie is still working on a three minute goal. She’s okay as long as she gets to direct the play, or if she is with kids she is very familiar with, or there is an adult involved, but has no idea how be included in group play in the school playground.

Sophie also has issues with histone methylation. So for the rest of her life she has to have a different dietary regime and take supplements to support her functioning. Not a big deal in the grand scheme of things. Not something you can tell by looking at her. But if she misses her supplements, it shows. The reports from her therapists start to mention attention problems, her handwriting suffers, she starts pushing kids around in class. She tells me “I find it hard to play on the playground because normally I can run, but now I can only walk”. Then the teacher pulls me aside and gently tells me that Sophie has been falling out of her seat a bit this week, and has been unable to control her outbursts in class.

There are other challenges, more than a few, but I won’t bore you with the details of all that in this post. Because the exact nature of all of Sophie’s challenges isn’t really the point of this post. The point of this post is really to raise awareness about what might be going on behind the scenes, not just for our family, but for all parents and kids dealing “invisible disabilities”. The point is to raise awareness of the fact that sometimes, hearing the words “she seems fine to me” , however well intended, may not have the desired effect.

It’s kind of a double edged sword – because part of us swells with pride when we hear these words, and we take the time to reflect on how far our child has come. But many of us also secretly (or not so secretly) wish for understanding. We want people to understand that getting our kids to the point where they seem “just fine” often comes at a great financial, emotional and physical cost to all involved. And hearing those words, no matter how well meaning, can feel dismissive of the challenges our children have overcome. Those words can make us feel that our child’s ongoing challenges are of no consequence. And that we have no right to be tired, overwhelmed and disheartened at times. It can make a special needs parent feel unheard, unsupported, misunderstood, overwhelmed and invalidated,. It’s not pity we are after, but understanding and compassion can go a long way. By all means tell us that our little ones are doing fabulously, that we are doing a great job – sometimes that is all we need to hear. But please don’t dismiss our struggles. Because sometimes we really need that shoulder to lean on, that quiet chat over a cup of tea (or a bottle of wine), that chance to cry and share our worries and feel HEARD. So that we can stand up straight and tall again, feel pride in what our children have achieved and what we have done to support them, and move forwards. We don’t want to live in the world of special needs all the time. In many ways we are still the people we were before our children were born, we want to laugh and play and have fun and experience joy and silliness and beauty and love and all the world has to offer. But sometimes we may just need that little bit of understanding to help get us through our dark places.

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P.S. To all you special needs parents out there whose children have visible disabilities..please know that I am in no way trying to diminish your struggles. As I said in my post, you deal with all of this and often more. And to any of you out there suffering other invisible disabilities like chronic pain, hearing loss, chronic fatigue, depression, anxiety, autoimmune conditions and the list goes on and on..I am not diminishing your struggles either. I hope that my post may help people to take a step back and choose not to judge people in ANY situation. Because we really rarely have a clue about what people deal with in their lives. If we all took the time to be just that little bit more compassionate and understanding towards each other, the world would be a much finer place.
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Endings and Beginnings

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The first few years are a nightmare..you’re scrabbling, reaching, trying to find answers, researching, filling in endless paperwork, trying to find a good team to support your child. Sleepless nights, endless questions, insecurity, doubt and fear. Then you slowly get it sorted. You find the right therapists, doctors, daycare. You find support networks, and answers. You stop having to struggle and advocate all the time. You stop fearing so much for your child’s very life. And you feel like you have finally got it worked out. To some extent at least. You know challenges are yet to come, but they start to feel far in the future.

Then life happens. Your child grows a little older, they outgrow “early intervention”, it is time to start school, leave behind the secure cocoon you have woven for them. Old challenges are overcome, and new ones have arisen. And you find yourself on quicksand once again. All those wonderful supports you had, slipping from your reach. All that hard earned knowledge, now outdated and needing a bit of an upgrade. Time to start over. Endless reams of paperwork, again. Interviewing potential schools. Moving house. Trying to find new therapists. New doctors. New teachers to support and guide your child. New interventions to assist with emerging issues. And, momentarily, fear sets in. Echoes of that early time of fear and uncertainty come to haunt you in the early hours before dawn.

You find yourself afraid, feeling inadequate, and unsure whether you have the emotional and physical reserves to do this..again. And then you pause..and breathe..and realise that despite the fear, the tiredness, and the (yes) resentment you sometimes feel at having to do all of this..that you are so much better equipped than you were the first time around. Now you have the guidance of others to call on, from having found support networks. Now you have confidence to back you up..you have done this before, with far less knowledge at hand, and when you were far more depleted. You can do this.

And then, the realisation of how far both you and your child have come in such a relatively short time dawns on you. It is, really, a miracle of sorts. It doesn’t dismiss the effort or exhaustion of having to once more educate a new team about your child’s strengths and weaknesses. But it does give you a confidence you didn’t have before, A tentative confidence to be sure, a flickering flame, not a blazing fire..but far more confidence than you had five years ago, when you battled the system to be heard. Now you know that you have a voice, and that you will not be defeated. Now you know that you can find your way through the maze.

To all parents going through change, special needs or not, know that you have what it takes. A parent’s love can overcome many obstacles.

Today Sophie had her last session with her occupational therapist, Robyn, who she has been seeing for three years..since she was two years old. And last night I shed a few tears as I thought of this chapter of Sophie’s life being over. And as I watched her carefully and painstakingly writing a thank you card for Robyn, and painting a “dolls’ house” to give to Robyn as a gift. Because, back then, I never could have imagined that Sophie would be able to do this..

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Next month Sophie starts prep. Far from where we now live. Entailing new teachers, therapists and supports. And I have been overwhelmed. And anxious.

But on reflection, I see the fears are in me, not in her. I know now that my beautiful, brave, joyful and hardworking little girl will continue to amaze and surprise me. And that I must NEVER underestimate her gifts and her potential. Sophie is an amazing teacher…reminding me each and everyday to never underestimate anyone, and to never give up. And so I step out and step up, knowing that if my tiny little angel of a girl can face the world with courage, I can do no less. Onwards we go 🙂

Dietary Intervention – The GAPs Diet

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I have wanted to write this post for a very long time. But every time I even thought about it, I developed terrible writer’s block. A new experience for me. Writing normally comes easily to me. Why such a blockage? Partly because this is a complex topic. It really warrants an entire book. No single blog post will do it justice. But primarily, honestly…fear. Fear of being judged, fear of reprisal, fear of offending people. But today, finally, I choose to go ahead in the face of my fear. Why? Because I believe in my heart that to fail to write about this topic would be a disservice to those who may find something worthwhile in here. (And then, in one of life’s great ironies, just as I had finally written the first few paragraphs of this post my computer crashed..I hadn’t saved the post, and there was no “recovered document” to be found…haha..the universe is testing my resolve!)

So here we go, let’s talk about diet. I know this is a highly controversial topic in the special needs community. I know there are children out there who are PEG fed, children who will “only eat white foods”, children who can’t tolerate certain textures due to sensory issues, children who gag and regurgitate, children who can’t chew at all. Getting any sort of nutrients into these children can be a battle. And parents of children with special needs are often so overwhelmed with other medical issues, therapies etc that the idea of making dietary changes can seem frightening if not impossible. I do not judge anyone for the choices they make in regards to their children. I believe all parents will ultimately do what they believe is in the best interests of their child. But dietary intervention was life altering for Sophie and our family, so I choose to share our story. I am not a dietitian, nor a doctor. I am not making recommendations on what is appropriate for anyone else’s child, or suggesting that worked for us will work for anyone else. I am merely sharing our story. You may find something in here that resonates with you. You may not.

I have written in earlier posts about what an unhappy baby Sophie was. Refluxy, colicky, crying in pain, waking repeatedly throughout the night. Her bowels were obviously not working well, as she was producing up to 15 stinky runny bowel movements per day. She had bouts of terrible nappy rash. She had loads of sensory issues. She was failing to thrive. She was beside herself, and so were we.

We suspected from early on that she was intolerant of dairy. Removing dairy from my diet while I was breastfeeding helped somewhat, for a little while. But the bowel issues and recurrent night wakings, with Sophie screaming out in pain, continued. I was going slowly insane with the stress and lack of sleep.

Then, when Sophie was about 12 months old, an old and dear friend of mine, Maree Symons (who happens to be a qualified naturopath), spoke to me about the GAPs (Gut and Psychology Syndrome) diet. I listened, but it all sounded a bit outlandish. And to be honest I was resistant to hearing what she had to say, as it seemed like a lot of hard work, and I was already at breaking point. She suggested I read the book. I ignored her advice for a few weeks, then ordered the book and read it. And I cried a river of tears. Why? Because it made sense. Because I knew in my heart that this could potentially really help my daughter. And because I felt it would be an impossible task. The diet sounded like a lot of hard work, and sleep deprivation and hard work are not a good combination. So for three long months I carried on, tucking the GAPs diet into a corner of my brain where it only occasionally came out to taunt me. But I couldn’t ignore that nagging voice forever.

Finally, when Sophie was 15 months old, I decided to bite the bullet and give this GAPs thing a go. What changed? A couple of things. Firstly, Maree told me that even though it might seem like life would be more complicated, the fact that I would need to plan ahead could actually make things easier on a day to day basis – being organized can sometimes decrease stress. That made sense to me. Secondly, our bio-medical doctor suggested that we make a six week commitment to GAPs in the first instance. He said that if I saw no changes at all during that time, perhaps GAPs wasn’t the answer. And if I did see changes, then that would be the impetus I needed to keep going. The GAPs diet is supposed to be adhered to for one to two years. At a time when getting through a single day was a challenge, making a one to two year commitment seemed outrageous. But six weeks – that I could deal with. And thirdly – I had decided that no matter how hard GAPs was, it couldn’t possibly be as hard as continuing on the path we were on. I couldn’t bear to keep having my child waking in pain throughout the night, couldn’t bear the thought of forever struggling to help her gain weight, couldn’t bear the thought of more nappy rashes, and continuing multiple nappy changes throughout the day. Something had to change. It was time.

So what exactly is the GAPs diet? Well I’m not the expert, and this isn’t the place to go into all the details. Some information can be found on http://www.gapsdiet.com/ . And all the details (including an explanation of the biochemistry behind the diet) are in the book (Gut & Psychology Syndrome, by Dr. Campbell-McBride). Essentially, a basic summary is that GAPs is a diet designed to help repair the gut by “healing and sealing” the gut wall and repopulating the gut with healthy gut flora. It is not a diet that you have to stick to for life. It is a diet that aims to fix the underlying digestion issues, rather than simply focusing on removing offending substances for a lifetime. The premise of the diet is that gut function and brain function are intricately linked. If your gut is not working properly, nutrients can’t be absorbed properly, and substances that shouldn’t be circulating in our systems can leak through the gut walls causing all sorts of health problems. It is a diet that is purported to help ameliorate many of the symptoms of autism, help resolve certain psychological disorders and some auto-immune conditions. It involves removing all starchy foods (including all grains, potato, sweet potato, corn and most beans/legumes), reducing fruit and other sugars, removing all additives, preservatives, colourings, flavourings, and eating organic, unprocessed ‘real’ food. GAPs also involves introducing foods such as meat and bone broths (to soothe and heal the gut lining), live fermented foods (to improve gut flora) and healthy oils (for calories and energy). The GAPs diet also incorporates fish oil and cod liver oil. Some people may need to take digestive enzymes or other supplements while on the diet. But primarily, GAPs is about eating real food, for real healing. GAPs also has protocols for children who would normally be completely breast or bottle fed. And GAPs can be done with children who are tube fed (by using a blenderised diet).

Well you can imagine how some people reacted when I suggested we were going to go down this path..What??? You aren’t going to give your child bread? Or rice? Or pasta? No carbs? How will she gain weight/ she is already underweight? Are you crazy? Isn’t that irresponsible? What has your GP said? Has your gastroenterologist approved? Well no, no-one in the western medical profession had given their approval. But we had exhausted all of their advice, and none of it helped. We were going to give this thing a shot.

My mother was one of many people who wasn’t very happy when I informed her of what we were going to do. But Sophie was staying at their house for one night each week, so they had to be on board if this was going to work. I was adamant that we were going to give this a go, and, somewhat reluctantly, my mother (to her credit) agreed to go along with it.

There was just one minor issue. I wasn’t intending to adhere to the diet in full. For those who have read previous posts you will see what a battle we had with breast and bottle feeding. We had finally managed to get Sophie to drink from a sippy cup, and she had finally started to drink rice milk. And I was terrified of giving that up. We tried her on almond milk and she flat out refused. She was intolerant of soy, and it wasn’t “GAPs legal” in any case. So I made a decision to keep her on rice milk (big mistake, as it turned out, but we all make mistakes). We also weren’t in a financial position to buy all organic produce, so I had to pick and choose what foods were the “least risky’ (in terms of pesticides etc), and which organic foods we would be able to afford. I figured that making some compromises while adhering to the rest of the protocol would be better than doing nothing at all.

So we launched into “almost GAPs”. The stove was on almost constantly, with a pot of bubbling stock on the top. I was tripping around all over town to source organic meats, sausages without starches or preservatives, cod liver oil, organic chicken frames. I will not lie. It was not easy. But then the miracles started to happen. Within less than 10 days Sophie’s bowel movements were substantially improved. Sophie was waking less. My mother noticed, and all of a sudden was much more supportive. She started (and continues to this day) to make stock, and cook up big bunches of veggies and other GAPs friendly food for Sophie. As time passed, Sophie’s sensory issues started to diminish. She was gaining weight. She looked healthier. Her overall development improved (probably as a result of improved sleep, and being in less pain). GAPs was working. After about four months, Sophie had completely normal bowel movements. And she was waking only two to three times a night. I figured that was the best we would ever get in terms of sleep. I thought that perhaps her sleep cycles were so disturbed after such a long period of poor sleep, that she would always be a night waker. I was wrong. When I finally had the courage to go ‘full GAPs”, and removed the rice milk, she started sleeping through the night. All night. Every night. Only four days after we stopped giving her the rice milk. For us, GAPs improved Sophie’s life (and ours!) beyond our wildest dreams.

We are not the “model GAPs family”. We followed full GAPs for only six months. It is supposed to be followed for one to two years. But Sophie was doing so well, that we decided to slowly introduce some non GAPs foods. Over the course of the next year we introduced quinoa, buckwheat, potato and sweet potato. Her system tolerated all of these foods. Eventually she was also able to tolerate rice again (perhaps two years after we removed it from her diet). She now occasionally eats corn. She still can’t tolerate dairy or soy, and we chose not to give her gluten. Perhaps if we had done GAPs for two years, her gut could tolerate dairy. Perhaps not. There is dairy intolerance on both sides of our family, and in reality humans are the only species that continue to eat/drink milk products after infancy. (GAPs actually does allow some dairy – but we did GAPs without dairy as Sophie was intolerant). Being dairy free is sometimes annoying, but something I am happy to live with.

Nowadays, Sophie still eats primarily GAPs type meals. With occasional starches and some other rare exceptions. For example we allow the odd artificial colouring or flavoring if at a child’s birthday party or other special occasion (though not any from the “dangerous food additives’ list http://www.traditionaloven.com/articles/wp-content/uploads/list_of_food_additives.pdf ). She is well nourished and eats just about anything we put in front of her.

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For us, changing Sophie’s diet was a resounding success. One of my biggest struggles and heartaches these days is seeing children who are suffering with bowel problems, reflux, colic, sleep problems or sensory issues, and wondering if their lives could be changed with dietary intervention. Hearing of children who could only eat three foods prior to GAPs, and now have a varied diet, and wondering if these children could be helped through GAPs.. Hearing of children who would only eat “white foods”, and who now eat all colours of the rainbow, and wishing that miracle for all parents who have children with ingrained food preferences. I find myself wanting to tell the world, but often keep quiet for fear of giving ‘unwanted advice’ or upsetting parents who are already over- stressed. And who is to say whether GAPs would work for them anyway? But I know it worked for us.

Please note that many children (and adults) take much longer to derive significant benefits from GAPs. We were lucky that Sophie responded so quickly. So if you decide to go down this path, and aren’t getting immediate results, please don’t be disheartened. There are plenty of support groups out there including GAPS Kids and GAPS Pantry on Facebook. There are many different stories, but almost every story is a success story, in that improvements are made. Sometimes miraculous ones.

Feeding Difficulties…Things I Wish I Had Known

BabyBreast2Here she is.  My beautiful Sophie.  Feeding.  Looks all very normal doesn’t it?  But the reality is that this was a rare moment in time.  I suppose we don’t take pictures when we are busy dealing with a screaming infant.  And crying tears of our own. The truth is that feeding Sophie was fraught with difficulties.  Some of my earlier posts talk about the trials and tribulations.  Here are some things I wish I had known back in that dark and stormy time….

That my daughter’s difficulties with latching and feeding were in part due to low tone/ hypotonia  (http://www.healthline.com/symptom/poor-muscle-tone),  and not my inadequacy as a mother.

That my daughter’s reluctance to feed was exacerbated by pain from reflux…the pain of feeding became an association…”drinking equals pain, therefore why should I drink?”

That my milk supply was drying up as a RESULT of my daughter’s inability (and reluctance) to feed well, not because I was somehow incapable of supplying the milk she needed. (That should have been a “no brainer”. I started with milk spurting from both breasts, breasts rock hard and leaking. My supply diminished over time as her reluctance to feed increased.)

That (as a general rule) breastfeeding associations and lactation consultants are far more used to working with “neurotypical” children than children with “special needs”, and that, unfortunately, much of the advice they had to give was not going to help my daughter.  Being aware of that could have saved me a lot of pain in wondering why, even when I followed every (sometimes conflicting) instruction I was given, we were still experiencing difficulties.

That squeeze bottles designed for babies with cleft palates (http://www.cleftsmile.org/category/cleft-general/) can also be amazingly helpful for children without cleft palates, but who are having trouble with sucking and swallowing.  That piece of information could have saved us a small fortune.  When I weaned Sophie off the breast (in desperation) at 6 months, I think we bought just about every bottle and teat on the market.  Except a cleft palate bottle.

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That breast pumping (particularly with an electric pump) is difficult.  And can feel humiliating.  But that it is okay to struggle with it.  It is not meant to be easy.  And it is worth it.  Sometimes.

That once I was at the end of my tether with trying to pump, and finally had to introduce formula, I should have been offered the option of mixing some formula bottle feeds with some breast feeds, rather than being bullied by hospital nurses to completely wean my daughter onto a bottle.

That weaning your child off the breast is not the end of the world.  Sure, I would have LOVED to have breastfed Sophie until she was at least 12 months old, if not longer.  But in all honesty, it was better for my mental health (and therefore our whole family) for me to be able to share the feeds with my husband.

That my daughter would drink FAR better from a sippy cup than any bottle (perhaps due to the nipple/teat feeding experience being associated with pain?).  When we introduced her to one, she couldn’t hold the cup or tip it herself, so “technically” speaking, she wasn’t “ready” for one…but it worked.

That reflux medication is a temporary (and welcome) relief, but by no means the answer to “fixing” feeding issues.

That children with gastrointestinal issues and/or food intolerances and /or allergies can react even to specialised hydrolysed/hypo-allergenic formulas…even though some paediatricians will swear black and blue that it is “impossible” for a child to react to those formulas. As the formulas are “denatured”, and the proteins are broken down, so there is “no way” that those formulas can cause issues.  

That there is currently no standardised, accepted test for detecting delayed food allergies (also known as food intolerances).  There are many methods of testing (skin prick tests, patch tests, blood tests), but none of them are completely accurate.  These tests can be excellent for showing anaphylactic (immediate and often life threatening) reactions.  But some foods can “creep up” on your child.  Small amounts over several days can trigger reactions such as eczema or sore tummies.  And there is no reliable testing available.  If a child tests positive for a particular food intolerance, it is almost certain they are intolerant of that food.  However, if they don’t show a positive result, it doesn’t necessarily mean they can tolerate that food.  They may still be intolerant or allergic. There is a lot of trial and error involved to determine which foods may be causing issues for your child. 

That changing my daughter’s diet in an extremely radical way would change her life and ours forever.  For us, it was the GAPs diet (http://www.gapsdiet.com/) that transformed  our lives.  Sophie went from multiple stinky diarrhoea poos per day to normal gut function, and from waking every 45 minutes throughout the night to sleeping through.  I’m not suggesting that GAPs is the right approach for every child, I’m not a dietitian, I’m just a regular mum.  I’m simply stating that dietary intervention made a huge difference to us. And GAPs doesn’t have to wait until your child is on solids – there are protocols available even for infants who would ordinarily still be fully breastfed or formula fed.

That in the end, I already knew all this in my heart (except for the cleft palate bottle option, and the bit about the GAPs diet).  And that if I had my time again, I would not have allowed the medical profession to have so much power over me that I questioned myself at every step.

And most importantly…I wish I had known that, one way or another, I would figure it out in the end, and things WOULD get easier.  Sure, other “special needs” mums told me that, repeatedly.  But at that time, I really couldn’t believe it.  Our lives were consumed with trying to get nutrition into our daughter.  I was terrified.  I saw no end in sight.  But you know what? Those mums were right!  At some point, you will figure out a way.  Whatever it takes. And it will get easier. I’m not saying that a child who can’t eat will miraculously be able to eat.  But even if your child has to have a PEG (http://synapse.org.au/get-the-facts/peg-feeding-tubes-fact-sheet.aspx)…once you get there…once you finally figure out what needs to be done to get calories into your little one…the dark cloud will lift.

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To all you mums out there struggling with feeding. .. my heart goes out to you.  I wish you wisdom, peace and respite from the constant questioning and fear.  Listen to that inner guidance.  Trust that voice inside.  Do your research.  And then do whatever you think needs to be done. Whether that be persevering with breast feeding, bottle feeding, nasogastric feeding or a PEG.  It is incredibly difficult to listen to your gut when you are on high alert, stressed, fearing for your baby’s life as they “fail to thrive”, and being given advice by people who you believe to know better than you.  But as a loving mother, you have all the resources you need to figure out what is right for your child.  Research, join support groups for parents with special needs, and listen to your gut.  Don’t be afraid of being judged.  Best wishes to all of you who are in the dark place.  Keep the faith.

Motor Skills and and Neurological Development

Well it’s been a while between posts.  I lost my first true adult love and dear friend of 20 years just six weeks ago.  An early and completely unexpected death.  RIP Jimmi, I know you are watching over us.  We have also been busy getting our house ready for sale, and I’ve returned to work after a loooong time off.  So I haven’t been up to writing  until now.

And once again I’m going to mix it up…I had intended to write about Sophie’s speech development.  But Sophie attended her first ballet class a few weeks ago, so I’m moved to write about her motor development. My blog, I can change the rules :).

So… here we go…

Right from the beginning, it was evident that Sophie had some differences in her motor development.  She didn’t have a grasp reflex or a rooting reflex. She felt very floppy as a newborn and infant.  It was like she was sliding through our arms when we tried to hold her.  She always needed to be held and supported with two hands…no holding the baby in one arm while getting on with household chores for us!

She never curled up into that cute fetal position that babies tend to love.  Here is our attempt at one of those cute curled up baby photos, when she was just a few weeks old..fail!
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I took her to a baby massage class, and while the other babes relaxed in bliss, she squirmed, struggled, cried and was quite unhappy with the  whole rigmarole.

She made lots of jerky, flailing movements with her arms and legs, which while cute and endearing, I recognised as not being “normal”.

She didn’t hold her head up until around four months of age.  For tummy time, we placed a rolled up towel under her chest, as she had no apparent desire or motivation to lift herself up. She had head lag until she was over a year old (usually resolved by three months).

She retained her Moro (startle) reflex until she was more than 9 months old.
This reflex should usually disappear by 4 to 5 months.  Retained reflexes, like missing reflexes, are an indicator of physical delays.

She was too floppy to sit  in a bumbo chair or high chair unsupported, even at 6 months old, so we used to prop her up with folded towels all around her, so she could “sit up” to eat.

I couldn’t ignore her physical differences, so from very early on I started “googling” to try to find ways to help.  I have no idea where I found the time or strength to research, given the sleep deprivation, feeding issues and other concerns.  But I suppose as mums we do whatever it takes to give our child the best start, even when we are beyond desperate for sleep and respite.

From when Sophie was about two months old, we attempted to get her more comfortable with massage.  As we had heard this was good for training the brain, and assisting with motor integration. It wasn’t something she relaxed into, so we took it slowly.  Just a small belly rub during nappy changes.  Or rubbing her arms or legs when she would allow it.  Some lights stroking, some heavier stroking. We started to do “crossover” exercises with her when she was about three months old.  So each time we changed her nappy, we would take her left arm and touch it to her right foot, then take her right arm and touch it to her left foot.  Rinse and repeat.  We started to do joint compressions at bedtime.  All in an effort to increase her comfort with touch, help build neuro-connections and give her as many sensory experiences as possible.

At least four or five time a day we would take her little arms and gently try to pull her up to sitting, supporting her head as necessary.  Trying to help build her abdominal and neck strength.  Even now, at nearly five years old, she rolls onto her side to get up from lying down, rather than having the strength to use the “sit up” style form of moving from lying to sitting.

While some of her physical milestones were (and still are) quite delayed, in others she managed to “make it” just within the “deadline”.  Sophie sat at 8 months.

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She crawled at one day before nine months (the hospital had advised us to bring her back if she wasn’t crawling at nine months…she must have known..I’msure she was sick of hospitals by then!).  She pulled to stand at 9 months, started cruising at 10 months and walked at 14 months.

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While she achieved a number of milestones (just) within the “normal” timeframe, her physical weakness was obvious.  She was wobblier than other kids, more prone to falling, had much less strength and endurance.  Her gait was unusual, and for several years she would hold her hands up high for balance.  Even now she doesn’t swing her hands in the natural “reciprocal arm swing” (hands opposite to the feet) way that comes to most children by the age of about two or earlier.

In regards to physiotherapy…we had a few “traditional” sessions from when she was about seven months old.  These were helpful in terms of identifying her specific delays, addressing my concerns about her flat feet (since resolved) and her spinal curvature (xrays showed no spinal abnormalities, so we knew it was a core strength issue).  She was officially diagnosed with low tone and hyperflexible joints, so we had a definitive explantion for her physical “weakness”.

The public health system could only offer sessions sporadically, however.  And we noticed the exercises they did with her were largely things we could do ourselves, with a little bit of research, and some dedicated effort.  At that time, Sophie had 19 medical specialists and was attending physio, OT and speech.  Our lives was consumed with doctors appointments, therapy, and driving to and from all of  those appointments.  I wanted her to have time to just enjoy the  world. To be a kid, not a patient.  So we decided to drop physiotherapy, and replace it with family activities that would help to develop her gross motor skills.

We took her to Gymboree.

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We took her to playgrounds.  All the time.

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We went camping. Often.  Camping was especially great for her once she started to be able to walk, as the different textures and gradients of the environment challenged her skills in balance and proprioception.  Hills, grassy places, sandy spots, rocks, pebbles, tree roots and twigs.  Puddles . Creeks and water holes.  We noticed a definite “leap”  in her physical abilities each and every time we took her camping.  So we took her, even when packing the car seemed impossible.  Even when the mere prospect of leaving the house filled me with dread. We had always loved camping, but the exhaustion of sleep deprivation certainly didn’t make it an appealing idea in the first couple of years.  Luckily the rewards always outweighed the effort, and I have no doubt that all of Sophie’s camping experiences have not only improved her motor skills, but also helped her with her sensory issues and socialisation.

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Frank did a lot of work around proprioceptive awareness from when she was only a couple of months old, including rocking her from side to side, lifting her high into the air and and lowering her low to the ground, spinning her, rocking her.  Frank carried her in a backpack before she could hold herself up, tucking her in tightly with towels.

Once she was able to sit, we bought her a “bouncy tiger” and she sat on that for all meals, requiring her to continually shift balance and develop her core strength.  Once she could stand with support we bought her a mini trampoline with a handle, and she was only allowed to watch TV if standing on the trampoline.  Even before she could bounce, the gentle movement of the sprung base required her to continually readjust her balance.

At two years of age Sophie, thanks to the financial support of my parents, we were able to start Sophie with an excellent private Occupational Therapist, Robyn Simms.  Robyn worked (and continues to work) on fine motor skills and play skills with Sophie, but she also worked on her gross motor skills.  Thanks to Robyn our repertoire of “tools” with which to help Sophie grew.

We started to sit her on a Swiss ball, holding her by the hips, and moving the ball from side to side.  As she grew in confidence, we would lie her on her tummy over the swiss ball, tipping it one way until her head nearly touched the floor, then pulling it back until her feet were nearly touching the floor.  As her strength grew, we held her by the feet and put an object just out of reach, then rolled the ball forwards so she could reach out to grab the toy.  When she was strong enough, we progressed on to holding her feet in the air while she supported herself on her arms, and moved forwards  “wheelbarrow” style.  We used a scooterboard to develop her core strength.  We bought mini three wheel scooters of different heights, and without pedals, requiring her to develop the strength in her thighs and core in order to propel them forwards.  We bought three second hand slides of varying heights and angles, to help her with climbing and overcoming her fear of sliding.  We installed a sandpit in the backyard, a swing, a climbing cubby and a rocking toy.

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I made sure that she carried anything she was strong enough to carry, to develop her overall strength.  Sometimes she was reluctant and fearful to try new physical challenges.  “All done now” was a phrase she used often. But despite her trepidation, she would always give it a go in the end.  She showed so much courage and perseverance.  Those are qualities I admire in her so much, and qualities that I’m sure will stand her In good stead throughout her life.

At 33 months, she  was finally able to jump with two feet, after working on this for more than a year with her occupational therapist.  This  is a skill that is usually achieved at about 18 months.  What a day of joy and delight it was for us all!

Developing her physical skills and confidence was (and continues to be) a team effort.  My mother took Sophie to her occupational therapy sessions, which she videoed so we could watch.  Sophie was staying with my parents for two days each week, and they diligently worked with her.  We incorporated “physio exercises” into Sophie’s day, each and every day, but under the guise of “play”.

At the age of just three and a half she started horse riding with Riding for the Disabled…she was the youngest rider the centre had ever had. Thankfully the costs for this were low.  It equated to less than $20 per session due to the wonderful volunteers at Crowson Park RDA, who work for free, and the fact that her small respite allowance extended to covering the costs associated with caring for the horses etc.) Far cheaper than the $90+ per session that her other therapies cost.  She screamed her way through the first few sessions, but thanks to the gentle care of the volunteers she soon lost her fear and began to thoroughly enjoy her sessions.  Hippotherapy (horse riding therapy) has helped tremendously with her poor posture, curved back, low tone and sense of proprioception.  It has also significantly increased her confidence and willingness to try new things.

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Now, at nearly five, Sophie is still more physically frail and clumsy than other kids her age. But she is accomplishing amazing things.   She still requires supervision to walk up stairs…but she can do it…and recently started to do it with alternating feet!   She has overcome her fear of “wobbly bridges” found in most playgrounds.  Recently she overcame her fear of jumping castles, and now delights in the joy of bouncing away.  Her awareness of her body in space is becoming so much better. She can climb up ladders, and enjoys slippery slides.  She loves using the rocking toys in playgrounds.  She doesn’t scream in fear when other kids come near her on the playground equipment (kids can be rough, and when she was younger she was always getting pushed over and walked over..now she has the confidence to move out of the way, and even on occasion to push her way through to the  front! ) And about four months ago she FINALLY started to bounce along and try a few “dance steps” when watching the interactive song and dance parts on playschool!

She has come so far that we have finally been able to enrol her in a ballet class.  Something she has been asking to do for many months.  Just six months ago she found it almost impossible to copy basic movements like a turn or a step to each side.  A few weeks ago we proudly watched while she followed the teachers instructions through an entire thirty minute class. Perhaps not always in time, perhaps not quite as gracefully as the other kids.  But she was delighted, and so were we.

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In terms of Sophie’s challenges, her gross motor development is currently the least of our concerns.  That’s not to say she doesn’t have delays, and that continued intervention is not required.  It’s just that in the grand scheme of things, we know she will be “okay” in this regard.  She may not ever be the fastest swimmer, or the most graceful dancer, but she has great mobility…good enough that it no longer interferes with her capacity to join in on the playground.  She can enjoy the delights of trampolines, and slippery slides, climbing, and playing “can’t catch me”.  And really, that’s what matters.

Her gross motor skills may become a higher priority again in the future. At the very least, I’m guessing there will be a conversation or two as she gets older, and begins to notice that she is not as physically adept as the other kids.  And children with Kabuki syndrome are prone to developing terrible joint problems, particularly with their knees and hips, often requiring surgery. But that may or may not be in store for Sophie, and there is no point worrying about it right now.  In the big picture, her gross motor development is an area that we have allowed ourselves to relax about.  Sure, we need to give her extra input, she needs more practice to master physical skills, we can’t totally “take our eye off the ball”.  But we are blessed that she is as physically able as she is.  And we no longer expend so much energy on this area of her development.

We have been incredibly lucky in this regard, as many children with Kabuki Syndrome take much longer to get where Sophie is.  Many don’t walk until three, four, five or older.  Some require orthotics or other physical aids such as walkers.  Some are in wheelchairs.  We are tremendously grateful that Sophie has had fewer struggles with her gross motor development than many of her Kabuki peers.  And knowing how lucky we have been makes us all the more excited and delighted when we see other “Kabuki Kids” start to sit, crawl, walk, dance and play.

Overall, while some areas of her motor development are still significantly delayed compared to “neurotypical” kids, she is doing fabulously.  She may be clumsier than the other kids.  But now when she falls, rather than tears or hysteria, she just laughs and gets straight back up again.  A wonderful lesson for me to take on board…when you fall..laugh and get back up…keep trying, and never give up!  Thank you baby girl for teaching me…I hope I will take your lessons on board sooner rather than later.

Minor Mummy Heartbreak Moment

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Well it’s been a while between posts. And this one isn’t what I had planned on writing.

I lost my first true adult love (and dear friend of 20 years) just over two weeks ago. An early and completely unexpected death. Heartbreaking. So I haven’t been up to writing until now. RIP Jimmi, I know you are watching over us.

And right now, I think my heart just broke a little more.

Sophie …”When I’m at Nana and Papa’s and they tell me not to suck my thumb, I tell them ‘Mummy and Daddy don’t seem to mind‘”…and then, after a brief pause…”And my teachers don’t seem to mind.“… Another pause, then…”The children at kindy mind my squiggling.“… Me “What do you mean?”…Sophie…”Well, look at this…I squiggle like this…(making large arm waving movements in the air)…”And they do it like this“…(making little finger waving movement in the air)… “And they don’t like how I squiggle. They tell me I’m doing it wrong.” ..Me… “How does that make you feel?” …Sophie…”Sad“… Me… “And what do you say to them?“… Sophie…”I say…That’s the only thing I can do“.

Thus ensued our first serious conversation about Kabuki (which she knows she has, but has never questioned). I talked to her about people who wear glasses, and people with guide dogs, and how some people’s bodies work differently to others. And how squiggling is easy for those kids, but harder for her because her body isn’t yet as strong as theirs. And that she should be proud of working so hard at something that is harder for her. And that there is really no “right” way to squiggle. That I love how she squiggles now, and if she gets better at it I’m sure I will love that too. Plus all the stuff about effort and perseverance being a more worthy quality than just being able to do something etc etc etc.

Ouch. Really truly ouch. Feeling sad. And somewhat inadequate. Wish I had superpowers to protect her from what is already starting to come her way.

She is a being of light. Please let no-one quash that.

Postscript… Frank just came out after finishing our family night-time ritual, and told me that Sophie said… “Daddy…do you know why it took so long for Mummy to get you tonight?“… (I usually tell her a story, the two songs, then he comes in for last songs before sleep). Sophie said “Because Mummy and I had to have a talk and a cuddle.”

Sometimes I wish the world was more forgiving. But I need to remember that people can’t understand what they don’t know. And need to persevere with giving Sophie the best of the knowledge and wisdom I have to offer. Which I hope with all my heart will be enough.

Finally…A Diagnosis

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While continuing our relentless search for answers, we began to put early interventions in place. Sophie started physiotherapy and speech therapy through the Queensland Public Health System. We were assessed for occupational therapy services. We started nutritional intervention and biomedical intervention.

We were referred for various investigations. Sophie had her head and spine x-rayed, bloods taken and her urine tested for metabolic disorders. She had her faeces tested for microbes and malabsorption issues. We had several visits to the audiologist (resulting in surgery to have grommets placed), a visit to the ophthalmologist, a visit to the paeditric dental and cleft palette clinic at the Royal Childrens’ Hospital, several visits to the gastroenterologist and some follow up appointments at the Child Development Clinic at the Mater Hospital. She had another short hospitalisation after having what turned out to be a febrile seizure.

For many, many months, it was common for us to have three or more appointments each week. In her first year and a half, Sophie had more than 150 appointments in total.

We saw Genetics Queensland (the public hospital genetics service) when Sophie was about 12 months old. They agreed that there seemed to be something wrong. They said it might be genetic or it might not. The one genetic disorder they did mention (Ectodermal Dysplasia) didn’t account for her developmental delay. I knew they were looking in the wrong direction. But at least they recognized that something was “off”. They told us to come back in 12 months, when they might be able to tell more based on how she was developing physically and mentally. I felt relieved that someone agreed that Sophie might indeed have some sort of genetic issue. But I couldn’t just sit back and wait another 12 months for answers.

We went to a private geneticist when Sophie was 15 months old. This was the first time that we were to hear of Kabuki Syndrome. During the course of the appointment the geneticist admitted that he was somewhat baffled, but that she had some physical features that made him believe Kabuki Syndrome was a possibility. I had already come across Kabuki Syndrome during my endless hours of “Dr Googling”. Even though it was only a three years ago, there was not much in the way of research or clinical information out there at the time. Most of the research papers talked about children with fairly severe intellectual disabilities, and semi-dwarfism. This didn’t match what I knew of my daughter, so I had moved on to searching for other answers. When this doctor mentioned Kabuki as a possibility I got straight back onto the computer, and still didn’t think it was the right fit. As it turns out, the geneticist wrote us a letter ten days later saying that on consideration he believed that Sophie did NOT have Kabuki syndrome, as she was developing “too well” for a child with that diagnosis. So I put Kabuki aside, and continued to search for answers.

When Sophie was 20 months old we finally got a definitive diagnosis. It happened almost by accident. I had taken Sophie to the hospital with a mystery rash. Our GP had not been able to identify it, so I had taken her to the hospital. The attending doctor in the ER didn’t recognise the rash either, so called the Head of Paediatric Emergency Medicine, Dr Herd. He took a look at her very, very thick file. He took the time to read through the contents. He talked to me and examined Sophie thoroughly. He even noted some additional features I had not noticed as being “different”– such as her short broad fingers. All in all he spent about forty five minutes with Sophie – which is a long time in an emergency department. At the end of our chat and his examination, he told me he thought it was certain that Sophie had some sort of genetic disorder. Finally I was really being heard…by Dr Herd no less. The irony was not lost on me.

Dr Herd said we needed to get to the bottom of it sooner rather than later, and referred us to a decent pediatrician. At Dr Herd’s request, we were seen within a fortnight. The pediatrician referred us to an excellent geneticist, Dr David Coman . My hero. My angel. One of those rare practitioners who genuinely cares about his work.. A practitioner who knows his craft well, yet never forgets that he is treating people, not just “patients”. “Dave” (as he introduced himself) also happens to be a paediatrician and a metabolic physician. So we had all our bases covered.

Dave carefully read all of the information I provided to him.  Three full pages about Sophie’s development, behaviours and physical symptoms that I had meticulously collated over the preceding months.  Unlike other doctors, who had chastised me for “googling” too much, or barely cast a glance at the information i prepared, Dr. Coman was grateful for the groundwork I had put in. If you find a doctor who is irritated by you “googling” to try to find answers – find another doctor!  Google has been, and continues to be, a valuable source of information for us. Just dont believe everything you read.  Similarly, if you find a doctor who isn’t interested in looking at any background material you have prepared – find another doctor!

Dr. Coman spoke to us for close to an hour. He then examined Sophie thoroughly. At the end of his examination, he looked at us kindly and asked us if we were ready to hear her diagnosis. Yes! I was more than ready!

He said that he felt certain that Sophie had Kabuki Syndrome (we had not mentioned that possibility to him). He told us that he knew her diagnosis as soon as she walked in the room, as he has other patients with Kabuki Syndrome, and her features and presentation were undeniably “Kabuki”. Despite him feeling certain of her diagnosis on sight, he had taken the time to hear us out and give Sophie a proper examination. Unlike so many of the other doctors we had seen, he took us seriously. He was thorough and highly competent. He was happy to hear us out, and welcomed our questions. What a tremendous relief!

He explained that there is a huge variation in children with Kabuki Syndrome in terms of overall presentation and severity, and that much of the research information available was out of date. This explained why the previous geneticist had vacillated, and why the information I read had not resonated.

At the time of Sophies diagnosis, a gene test for Kabuki had only just been developed. And not all tests were coming back positive. So Sophie was given a definitive clinical diagnosis of Kabuki syndrome…meaning that the diagnosis would remain, regardless of whether genetic testing came back positive or negative.

When we returned home that evening, there was an email from Dr Coman in our inbox. Here is a short excerpt from his email….

“Dear Kath and Frank,

I hope you are well, and I do apologise for having to break the news today. I appreciate how difficult it would have been for you to hear the news today and understand that you have been on a very long road thus far.

But…there are a number of positives to come from this diagnosis. please see attached some articles, they outline that a set of children with Kabuki Syndrome can have normal intelligence!! The speech and language paper also highlights the expressive speech and language defects that these kids can have.

The positives are that, a) it’s not degenerative, b) Sophie has a lot of strong intellect pointers in her development. This, combined with a better understanding of her diagnosis, will help us obtain the allied health and school needs to maximise her potential….”

Dr. Coman also provided us with links to various websites, research papers and support groups. He told us not to be disheartened by anything we read, as what was available on the internet (at that time) could often be skewed towards the more serious end of the spectrum. I was blown away by his sensitivity, care and generosity. What doctor takes the time to do his sort of thing? None that we had encountered before, that’s for sure! I will be forever grateful for the care and compassion that Dr. Coman displayed in sending us that email. It was a beautiful ray of light at a dark time. It helped to restore my faith that there are indeed wonderful doctors out there.

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As it turns out, Sophie’s Kabuki diagnosis was to be irrefutably proven through genetic testing about a year later that showed a mutation on her MLL2 gene.

By then I well and truly knew that Sophie did indeed have Kabuki syndrome. Since receiving her clinical diagnosis, I had joined a number of social networking and support groups. including SAKKS (http://www.sakks.org), the Kabuki Syndrome Network (http://kabukisyndrome.com/about), Kabuki Syndrome Australia (http://www.kabukisyndromeassoc.com.au/), Kabuki UK (www.kabukiuk.com) and various Facebook pages. In those groups I had seen countless images of other children who looked just like Sophie, and who shared her symptoms and behaviours. I knew it was Kabuki.

Even so, I shed some tears the day we received Sophie’s official test results. It was undeniable now. This was not something that was ever going to go away. A sense of utter relief was mixed with a sense of deep sorrow. My heart felt crushed, yet my mind felt relieved and at peace.

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Sophie’s Asperger’s diagnosis was not to come for another year. But that’s another story for another day.

Before signing off, I’d like to direct anyone who is interested to an article I had published not long after Sophie was diagnosed. I was delighted to be commissioned by Practical Parenting magazine to write an article called “Finding out Your Child has Special Needs”. Obviously it is a MUCH shorter (and more sanitised!) version than what I have posted on this blog. It also has a different focus. The article was written with the intent of helping other parents to avoid some of the angst we went through in our early days. While it does contain a little information about Sophie, it focuses on helping parents who are searching for a diagnosis, dealing with the associated grief, linking into support systems and early intervention. Dr Coman was kind enough to contribute to the article, as was my dear friend and brilliant Psychologist Nikki Oughton. If you are interested, you can view the article here.

https://au.lifestyle.yahoo.com/practical-parenting/toddler-preschooler/development/article/-/13022440/finding-out-your-child-has-special-needs/

NEXT POST…EARLY INTERVENTION…SPEECH THERAPY

 

Searching for Answers

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Well. It appears I have a lot to say. Which will come as no surprise to any of my friends who are following this blog! And as a newbie blogger, I’ve made a mistake. I guess it was bound to happen. I promised this next post would be about finally obtaining our diagnosis. And then I wrote the post. It was long. Crazy long. And I don’t want to bore you all to tears before we get to the juicy bits…the helpful, positive, educational bits!  So to keep things manageable, I’ve split this post into two parts. The first part of this post talks about some more of the hurdles we faced along the way, with a particular focus on feeding issues and the battle to be “heard” . The second part of this post will be added shortly, and does actually end with the relief of obtaining a diagnosis. As is sometimes the case in real life, the journey to get there just takes a little longer than I had planned. I invite you to join me for the ride…

 

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AFTER ELLEN BARRON

Despite giving Sophie her first bottle while at Ellen Barron, I was still attached to the idea of breastfeeding. We went home and bought bottles and formula, and I put them in the cupboard and continued to struggle along with breastfeeding and pumping. Due to stress and sleep deprivation, my milk supply was once again suffering. At one point we had to resort to buying breast milk from the breast donor bank. They were wonderfully supportive, but the cost was prohibitive, so we could only afford two week’s supply. I continued to pump. In hindsight, I probably should have admitted defeat at this time, as using bottles and formula would at least have allowed me to get some precious sleep.

Meanwhile, we were waiting for the results of the Cri du Chat test, These were some of my darkest days. I kept thinking about whether or not Sophie did indeed have Cri du Chat. I became obsessed with the idea. And at those times I couldn’t see the beautiful little girl in front of me. I could only see some terribly disabled creature that I wanted nothing to do with. Of course now I know that a Cri du Chat diagnosis would not have been the end of the world. But back then I thought it would be.

The day we were to receive our Cri du Chat test results I hit rock bottom. I had to ask Frank to come home from work because I couldn’t even look at my darling daughter. I had literally put her down into the cot, and didn’t want anything to do with her. Everytime I looked at her I saw some terrible future that I didn’t want. And of course I was in the grips of terrible postnatal depression. I thought it would be better if I were dead. Or perhaps if she were dead. I am so terribly ashamed to admit that, but it is true.

When the phone call came to say the test had come back clear I literally did not believe them. I was so out of my mind by then that I thought they were lying to me. I literally could not get it through my head that the test was negative. Poor Frank. Wonderful Frank. He held me, he supported me through my temporary insanity, he spoke to me kindly and gently until at last it sunk in. Sophie did not have Cri du Chat.

With a clear test for Cri du Chat we were back to not knowing. But I knew. I still knew. Something was wrong.

We went back to the paediatrician when Sophie was six months old. Again I voiced my concerns. Our paediatrician once again ignored everything except for the fact that Sophie wasn’t gaining adequate weight. She was classified as failure to thrive. He decided to hospitalize us for a few days to observe Sophie’s feeding and try to see if improvements could be made. I think his main concern at this stage was how depressed I was, and he wanted me to wean Sophie. I felt bullied into weaning her while I was in hospital. Although in a way I knew that something had to change. I was exhausted from being the only one who could do all the feeds, I was depressed, and in honesty I needed to get onto medication.

Our stay in hospital was lonely and depressing. Most people didn’t even know we were in hospital, so we had no visitors other than Frank. Again I experienced the frustration of being unheard. The nurses would walk into the room, and without so much as getting Sophie out of her cot (she wasn’t sitting at this stage) they would comment “Oh look what a lovely normal little baby” or “What a perfectly normal little baby you have”. What the heck??? That’s a pretty odd thing to say to someone. It turns out the doctor had informed the nurses that I believed Sophie had a genetic disorder, and that he disagreed. I felt he was making a fool of me. No-one was taking my concerns seriously. It was then that I really started to question my own sanity. If all these people were saying she was fine, maybe she was fine, Maybe I wasn’t just overtired, stressed and depressed. Maybe I was actually crazy.

But there, right in front of me, was more than enough proof that I wasn’t imagining things. She had deformed teeth for heaven’s sake. That is NOT normal! She had more than 15 other physical anomalies. Perhaps I could have been imagining everything else, but the physical proof was right in font of me. I felt alone, I felt I wasn’t being listened to, I felt frustrated, and scared.

The nurses were determined to get Sophie on the bottle. I wasn’t yet ready to let go of breastfeeding my child. I remember one night “sneaking” a breastfeed in. I got reprimanded by a nurse who found me breastfeeding Sophie. I ended up feeling guilty the last few times I fed her.

One day they brought the hospital physiotherapist and “feeding specialist” to visit. She told me that she was the expert, and could get “any baby to feed”. I think she believed I was just an inexperienced and stressed mother who simply needed someone to “sort her out”. She took Sophie, tried to feed her for about 10 minutes or so, had no luck at all, and promptly gave up and left. Sorry? Didn’t you just tell me you could get any baby to feed?

The nurses became obsessed with getting the right number of mls into her. They didn’t seem to know or care why she was having so much trouble feeding, they just wanted to get milk into her, any which way. They wanted me to force feed her. I tried but just couldn’t bare to force feed her while she was screaming blue murder, kicking, crying. The nurses suggested it might be best if I left the ward as they were going to feed her and I might find it distressing, I handed her over and watched as they started to feed her. She was crying and fighting and they kept forcing the milk into her mouth. She looked terrified. I was horrified. I turned on my heel and fled.

One nurse followed me and I sobbed to her about how afraid I was that we wouldn’t be able to sort out the feeding. She said “there is NO WAY we will let you go home with her feeding this poorly. “It’s just not going to happen”. With the force feeding they managed to get 650 mls into her. The largest amount she had managed prior to that was 450mls. The doctor saw 650 mls on the chart and promptly came to me, said she was eating enough and that I could go home. A child of her age “should” have been taking about 1200 mls per day. I lost it. I felt betrayed. The nurse had promised there was no way they would send us home with Sophie feeding like that. The only reason she had 650 mls on the chart was because they had poured milk down her throat while she choked and cried and fought them. I knew that I wouldn’t be able to do that to her at home. So I refused to leave the hospital. I told them I wasn’t going home until they helped me to sort out her feeding.

I stayed another two days. They were no help at all and the penny finally dropped that we were going to have to figure this out on our own. Disgusted, I discharged myself and went home.

In hindsight, I’m not actually sure how we managed to avoid nasogastric feeding, or a PEG. I suppose I can at least thank them for that, as I have seen the struggles that many parents go through trying to get children to eat orally after tube feeding. I suppose every cloud has a silver lining!

 

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After discharge from hospital, I went to stay with my parents for about ten days. Mum had offered to help out while I was continuing the weaning process, to allow me some sleep, and to supervise me while I was adjusting to antidepressant medication. What a blessing that ten days was. I can honestly say that I think I would have ended up in the psychiatric hospital at that point if it wasn’t for the support from my family.

We battled on. I had hoped that weaning Sophie would improve her feeding but it didn’t. It used to take us 10 hours per day to get 450 mls into her, mostly in 20 ml increments. Sometimes we would get 40 or 60 mls in at a time. Once we managed an entire 120 mls! I was elated, but sadly it was a one off. I felt ripped off that I had given up breastfeeding and the feeding was still a struggle. On the bright side it meant Frank and I could now share nighttime feeds.

I continued my search for answers. Googling became my obsession. I spent every spare minute on the internet, researching various genetic disorders and metabolic disorder. I wanted answers, but couldn’t seem to find a syndrome or disorder that matched Sophie’s symptoms and physical differences.

When Sophie was nine months old, I wrote to the Child Development Clinic at the Mater Hospital requesting an appointment. I was told we would be put on the waiting list and could expect to wait 12 to 18 months. No way could I wait that long. Precious time was ticking away. I needed to know what was wrong, so I could figure out how to help Sophie. So I could stop spending countless hours on the Internet trying to diagnose her. So I could plan for her future. Access assistance. End the insanity of the fear of not knowing.

So I sent a long email to them outlining all of Sophie’s symptoms, and suddenly we were given an appointment. We waited less than two weeks! That gave me hope. Obviously these people could tell something was wrong. Finally, we were going to get the help we needed! But no. The doctor at the Mater at least admitted that Sophie had some dysmorphic features. But because Sophie’s development was at that time just within the bounds of normal, the doctor decided she couldn’t have a genetic disorder. She did refer us to Genetics Queensland, but the letter again focused on my depression. and stated that “the mother may be reassured by normal genetic testing”. Again I felt like I was not being heard. I felt helpless in the face of the system. I felt distraught. Why were these people not listening? Why could they not see what was in front of their face? I was angry that the doctors thought I was imagining things because I was depressed, instead of considering the fact that I may have been depressed because there actually was something wrong with my child. My child wasn’t sleeping properly, eating properly, meeting some of her milestones. She didn’t feel right, she didn’t look right, but everyone was brushing me off. I reckon that would make anyone depressed.

A chromosomal micorarray was run and came back normal. At that stage I knew a lot less about genetic testing than I do now. I thought a chromosomal micorarray would show any genetic disorder. I was confused. I questioned the doctors and they told me that full exome sequencing was the only way to find all genetic changes. At that stage exome sequencing would have cost about $10,000, which of course the public system was not prepared to pay for, and we couldn’t afford. Metabolic testing also came back normal.

Where to from here?

 

NEXT POST…A DIAGNOSIS (I promise!)

The Early Days…Feeding, Sleeping, and Other Concerns

Before I start this post I want to make something clear. I don’t intend for this blog to be nothing but a series of sad and sorry tales, full of doom and gloom. Over time these pages will also be filled with wonderful stories of joy and achievement, with tips and tricks for things that helped us through some of our difficulties, therapies we have tried, what has worked and what hasn’t worked. I want this blog to celebrate Sophie, and perhaps (hopefully) to offer some help to other special needs parents by providing information and resources on sensory issues, fine and gross motor delays, social differences, feeding issues, food intolerances, biomedical intervention etc. But I also want this blog to reflect the reality of our journey. And to be perfectly honest, the first twenty months after Sophie was born were some of the darkest days of my life. In the early days (and even now) it really helped me to read other parents’ blogs, to know that we weren’t alone in our struggles. So I choose to share and honour the difficulties of our journey as part of this blog. And I will do so unapologetically. If you want a sanitised version of the truth…pick another blog!

The next two posts are going to focus on Sophie’s early development and feeding issues, and our journey to a diagnosis. It was a not a happy time. It was a time filled with endless questions and no answers. Sleepless nights and tear filled days. After my next two posts, I will start to post about the interventions we have undertaken with Sophie, and the amazing progress she has made over time. I will still be telling “our story” (it’s the only one I have!), but I want to share the knowledge we have gained, not just the trials and tribulations.

Don’t get me wrong…I know that our journey is a marathon, not a sprint. There will be good days and bad days. Always. I’m not promising that all of my posts after the next two will be nothing but sunshine and roses. But I promise you there will be plenty of sunshine and roses too!

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So…here we go…and bear with me…things do get better!

THE EARLY DAYS

Other than the pain from my c-section, the first few weeks at home were not too bad. Sophie seemed more settled that she was in hospital. She slept for up to three or four hours at a time.

 

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Despite this, my concerns remained. She continued to have trouble latching and feeding. She was generally only able to feed for a few minutes at a time before she would fall into an exhausted sleep. She was difficult to rouse and still very floppy. Her head control was totally absent.  She didn’t seem to quite “fit” into her skin.

 

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At about five weeks, symptoms of reflux set in, and thus began what was to be more than a year of sleepless nights. She used to scream for hours every day. She pushed off the breast, refusing to feed. She slept very little. She started to wake every 45 minutes throughout the night. Screaming. Relentless, high pitched, anguished screaming. My heart was breaking for her…I didn’t know how to help. I felt like I was failing as a mother. I couldn’t even comfort my own child.

Frank and I were beside ourselves and didn’t know how to help her. We had just about every single over the counter baby medicine in our cabinet. Colic drops, wind drops, gripe water, homeopathics, baby panadol. At one stage we were syringing various things down her throat every couple of hours, hoping to hell that something, anything, would relieve her pain and stop the screaming. We went to the chiropractor. I changed my diet. We tried all of the (conflicting) advice we were given about feeding. We listened to theories about too much foremilk, too much hind milk, insufficient supply. We were told to feed her on demand, feed her every three hours, wake her to feed her, leave her to sleep. We tried it all. We went to the Queensland Community Health “day stay” unit that provides support for mothers having trouble feeding and settling their babies. Three times. We tried patting her bottom until she slept. Wrapping her. Unwrapping her. Propping up the base of her cot. Nothing worked. She seemed to be more unwell by the day. She was born on the 25th percentile for weight, and within a number of weeks had plummeted to the 5th percentile. She was failing to thrive. On top of the feeding issues, she was having up to 15 bowel motions every day…thin, runny, and stinky. She was not a happy baby.

When Sophie was less than 6 weeks old I returned to our General Practitioner begging for help. By now I had noticed about 15 minor physical anomalies, which I documented for the doctor. I also documented the feeding issues, sleeping issues, bowel issues and my concerns about her “floppiness”. I was now convinced that something really was wrong. I duly gave the list to the doctor. He scanned it briefly. But because I was obviously upset, the GP chose to ignore my concerns and focus on my mood. At my insistence he wrote a referral to a pediatrician. One sentence stating that I was concerned about my child. Three sentences describing how I, the mother was suffering from post natal depression. A brush-off letter if ever I saw one. A letter that pretty much said “I think there’s nothing wrong with the baby – it’s all in the mother’s head”. I felt a knot of anger in my belly when I read the referral, but I thought “Oh well, at least it will get us in the door”.

So off we went to see the paediatrician. Not only did the he refuse to consider my suggestion that Sophie had a genetic condition, he also failed to diagnose her reflux. At her first appointment, when she was about 8 weeks old, he sent us away saying all was well and that she was simply a slow starter. We returned when she was three months old, at which time he decided I must have a milk supply problem (and continued to ignore the other concerns I raised). In truth, feeding was causing her pain, so she wasn’t feeding much. So of course she wasn’t gaining sufficient weight. I asked if it could be reflux. More than once. He said no, it wasn’t reflux. It was a milk supply problem. So he put me onto medications to increase my supply. And then started the horrible regime of pumping milk with an electric pump. Oh how I hated it. Tears would stream as I tried to pump. I was convinced I was a failure who couldn’t make enough milk for my child. Even though I had started with a great supply. Milk spurting from both my breasts. Breasts throbbing and full after a few hours without feeding. My supply had only diminished because Sophie was feeding poorly. She didn’t have a great latch, wasn’t drinking much, wasn’t interested, pushed off the breast. She was feeding less because she was in pain, so of course my supply was diminishing. But my lowered supply was the RESULT of her poor feeding, not the cause of it.

Eventually, during one of our stays at the Community Health Day Stay Centre, a nurse diagnosed her with reflux. She said she could hear regurgitation when Sophie was trying to feed. She told us to go to the doctor that very afternoon and insist on being given Losec. She gave us her work and home number and told us to get the doctor to call her if he questioned the diagnosis. The doctor gave us the medication, and within four days the constant screaming stopped (night waking and screaming persisted for quite some time, but at last our days were more peaceful). So many months of needless pain for my darling Sophie. So many months. Reflux is hardly a rare condition, how could the paediatrician fail to pick it up?

Sophie’s feeding didn’t improve on medication, even though the screaming did. As I later learnt, this is common with kids who have experienced a lot of pain with feeding – they develop a feeding aversion. She would kick and fight me, I had to carry her around the house and keep her moving to convince her to attach. No lovely snuggly feeds for us, no lying down and feeding in bed. So much for feeding her in the sling. Such a struggle it was, Sophie still unhappy, still not sleeping. We would go out and other parents would be holding their babies, cuddling, feeding, the babies would sleep. Sophie would struggle, cry, never fell asleep in her pram. I felt like a crappy mother. I couldn’t comfort my own child. As well as feeding issues, her development seemed delayed. She continued to be floppy. She hadn’t made eye contact until she was 6 weeks old. And even then it was fleeting and infrequent. She couldn’t hold her head up until she was about 4 months old. I noticed she made lots of jerking movements with her arms and legs. She also had obvious sensory issues. She would become hysterical at the sound of the garbage truck approaching, our dog (or any dog in the neighborhood) barking, the vacuum cleaner being turned on.  She shied away from bright light. Doctors continued to tell me that she was just a “slow starter”.

 

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It was at about this time that the public health dietitian reported me to Child Services, purportedly because I was depressed and Sophie wasn’t gaining weight. I had gone to her for help, and she reported me. I had been spending hours each and every day trying to get nutrition into my child and this was my reward. I felt betrayed and sickened. I was terrified that they would take my baby away, when I knew I was fighting with all my might to get her the help she needed. Luckily I worked in government at the time, and knew who to talk to to get the investigation underway as quickly as possible. And thankfully the dietitian’s concerns were dismissed and Sophie was not taken from us.

By this point I was in a bit of a state. Sleep deprivation and stress had taken its toll. I was getting traffic tickets. I once pulled up at a stop sign and waited patiently for it to turn green. A stop sign mind you, not traffic lights. I used to come back to my car after shopping with Sophie and find the front and back door wide open, keys in the ignition. I was virtually hallucinating my way through the days and nights. I was exhausted.

When Sophie was four months old we were accepted for a week-long stay at the Ellen Barron Center. This is a special section of the Prince Charles Hospital, designed to assist parents having trouble with feeding and settling their infants. By this time, it seemed that my every waking moment was consumed with trying to get milk into her. I look back at my admission forms and don’t know whether to laugh or cry. Sophie was still waking as often as every 45 minutes through the night. I had written on my admission forms that “I know Sophie can sleep well, as she has occasionally slept for three to four hours at a stretch”. Wow. Most newborns manage at least this, often more. I thought it was good sign if my four month old could sleep for three hours at a time. Occasionally.

So off we went to Ellen Barron. About half an hour after we arrived, they hooked me up to a double electric breast pump, under bright fluorescent lights, with two complete strangers looking on to see how much milk I could produce. I was suffering from acute calcific tendonitis at the base of my thumb at this time. It was so bad that I couldn’t change Sophie’s nappies by myself, and could barely hold her well enough to feed her. My Mum had been with me the previous week as I was unable to manage Sophie by myself. I was in acute pain, which causes lowered supply, plus I was being watched by two complete strangers while some bizarre electric machine sucked on my nipples. Of course I could produce only a few mls. I felt stressed and humiliated. I couldn’t understand what they hoped to gain by trying to watch me express. Luckily I was immediately referred to an excellent doctor who gave me a cortisone injection to ease the inflammation in my hand and wrist. By the next day the pain had subsided significantly and I could once again hold my daughter. With the pain gone, pumping was easier and I could produce milk once again.

The nurses determined it wasn’t a supply problem. They couldn’t figure out why Sophie was having so much difficulty with feeding, however. And they told us they couldn’t help us with the sleeping as long as the feeding was so bad. The feeding needed to be sorted first. But they didn’t know how to help with that . Great. These are supposed to be the experts and they have no idea how to help us? Are you kidding? If you can’t help, who can? This is the center where Mums go when they’ve reached rock bottom. They were supposed to FIX IT for heaven’s sake. Were we totally alone here? It seemed so.

A couple of other things of note happened during that week. On day one, we saw the pediatrician. Sophie was screaming at the time with her usual high-pitched scream. The paediatrician seemed a little concerned. She wanted to see Sophie again the next day. During the course of the next appointment the doctor mentioned that she thought Sophie had an unusual high pitched cry, and I somehow weaseled out of her that she thought it was a possibility that Sophie had a genetic disorder called Cri du Chat. I can’t remember the specifics of what the doctor said, but I remember I latched on to this idea like a bulldog. Finally, here was a doctor who thought there was a genetic issue, and not only that, but she had an idea of what it might be.

I got straight onto the internet only to discover that if Sophie did indeed have Cri du Chat she would likely never have more than a few words, would possibly not walk until she was 7 or 8 years old, may never toilet train and would probably have a lot of behavioural problems. Well of course I lost it. I KNEW something was wrong with Sophie, and if this was it then I wanted nothing to do with it. But at the same time I latched onto the diagnosis. I was sure this was it. Finally, here was a doctor who seemed to agree with me that all was not right with Sophie. And she did indeed have the high pitched cry that is typical of children with Cri du Chat. We saw a different doctor the next day who said he disagreed with the other paediatrician’s thoughts. I became distressed. Who was I to believe? The hospital called in the he Head of Paediatrics from the Royal Childrens’ Hospital to give another opinion. As it turns out, the doctor who suggested Cri du Chat was a brand new peadiatrician. It was her first week at the hospital. The specialist from the Royal Childrens’ examined Sophie and said he felt certain that Sophie did not have Cri du Chat. He admitted she had some dysmorphic features, but said he could tell from looking into her eyes and observing her behaviour that she was not severely mentally retarded, so the chances of her having Cri du Chat were very slim. Okay so who am I supposed to believe now? We were sent off for genetic testing. I believe they agreed to the testing primarily to calm what had now become hysteria on my behalf. I needed proof that she didn’t have Cri du Chat, because by now I wasn’t about to believe anything that any doctor said. We would have to wait until we returned home to get our test results.

Before we went home, the nurses seemed determined to get me to agree to bottle feed Sophie, at least some of the time. I was desperate to continue to breastfeed, as I felt that providing breastmilk was one of the few things I was able to do for my child. The nurses made an apparently unprecedented decision. They said they would look after Sophie for three hours, so that my husband and I could leave the centre to have a “lunch date’. They suggested we use the time to enjoy each other, have some quiet time, and consider whether we were prepared to consider supplementary bottle feeding. Lunch was a strained affair, I was verging on tears most of the time, and struggling with conflicting emotions. But by the end of our allocated time I had decided I was prepared to at least try feeding her with a bottle. It went against the grain of all the “natural” parenting strategies that I felt attached to. But it seemed like we were running out of options. We returned to the centre and told the nurses we would try bottle feeding. Silent tears streamed down my face as I was shown how to prepare formula, and gave Sophie her first bottle. She didn’t take to it very well, but then she didn’t take the breast very well either.

Our stay at Ellen Barron had not provided us with any significant improvement. We went home feeling battle weary and discouraged, and on tenterhooks awaiting our genetic testing results.

NEXT POST…FINALLY…A DIAGNOSIS!

PS If you would like to continue to read, please subscribe!  That makes things easier for me (yes, I’m apparently lazy), as I don’t need to send notifications of updates.  I’ve been told that if you type your email address above the subscribe button, that is all you have to do.  If you click on the button, I believe have to fill in a registration form, which takes a little longer.  Let me know if you are having problems subscribing.

 

Hospital Stay and Discharge

It has taken me a long time to write this post. I debated whether it was necessary/useful. I questioned myself about whether I was just having a whinge, looking for sympathy and being a victim…because I know so many Kabuki families had such a hard start with their kids in terms of medical complications. And so our “hard start” seems like nothing in comparison. This post has also been a while in the making as it was a difficult post to write. I kept getting “writers’ block”, as it was bringing up lots of emotions from that time. In the end I decided to persevere and post, as it provides some background about the state I was in when I started my journey into motherhood.

In some ways we were very lucky, in that Sophie was not born with some of the major medical issues that children with Kabuki can have…such as heart defects, kidney problems, or problems with aspirating fluids. That meant we avoided the trauma of having our child in the neonatal intensive care unit (NICU). While that was indeed a blessing, it also meant that Sophie’s issues were not immediately apparent to the doctors in hospital. It was to take us 20 months of battling the system to obtain our Kabuki diagnosis, and another year to obtain our Aspergers diagnosis…but I’ll save that story for another post.

Despite avoiding the serious medical complications, my introduction to motherhood was not an easy ride.

The first day after Sophie’s birth was a blur. I spent most of it asleep. Or, rather, unconscious.

The first night was anything but peaceful. We had been given permission to remain in the birthing suite so we could have a room to ourselves. The midwives felt that Sophie and I needed some privacy and space to recuperate overnight after the difficult birth. Unfortunately there was a change of shift, bringing a different midwife with a different opinion. This new midwife woke me and demanded to know when the baby had been fed. I told her that Sophie had been fed about 5 hours previously. I told her the doctors had informed me that Sophie was exhausted from the birth, and that it was feasible that she might sleep for up to 10 hours without another feed. The midwife told me in no uncertain terms that this was “absolute rubbish”. To my horror and disbelief she literally lifted my top, pulled hard and sharp on my nipple, and yelled that if I didn’t wake “the baby” to feed ‘”it”, she would express my milk and feed it to “the baby” in a bottle. I simply couldn’t believe it – this was the sort of treatment you read about from the 1960s, not something that really happens in this day and age.

She then proceeded to wake Sophie, and very roughly change her clothes, pushing and pulling her arms and legs, and throwing her about roughly. Poor Sophie started screaming hysterically. A high pitched wail of what sounded like sheer terror.

There was nothing I could physically do to stop this woman’s assault on my body or my baby. I still had the epidural in place and couldn’t walk. I was pinned to the bed. I felt disempowered, humiliated, and enraged at the way she was treating us. I yelled at her to please stop, burst into horrified tears. She didn’t stop, just kept yanking Sophie’s arms and legs, then virtually threw her at me before leaving the room in disgust. She returned just minutes later with an orderly in tow, and I was transferred into a shared ward. So much for some peace and privacy. I remember calling my husband in hysterics. I can’t remember any of the conversation.

The first night passed in a blur of exhaustion, intermingled with feelings of helplessness and pain. Helplessness because, paralysed from the waist down, I couldn’t even get out of bed to comfort Sophie each time she woke screaming. No little kitten mewls now. Just high pitched screams. I had to push the little red button and wait for the nurses to come, in their own time, to deliver my baby to my breast. Sophie didn’t latch very well, and didn’t feed much at any one time.  She kept collapsing into an exhausted sleep, only to wake again screaming within an hour or so. This went on all night. She was in discomfort from the very beginning.

I was experiencing pain in my incision each time I coughed. Which was still quite frequently. The nurses kept enquiring about my pain levels. I told them it was about a 4 when I wasn’t coughing, and an 8 when I was coughing. They looked at me like I was somewhat crazy, and I think they categorised me into the “difficult patient” category. “How could she be having pain? “ I could just see them thinking it. “She can’t be in pain – she has a damn epidural in!” Despite me telling them of my pain, no-one bothered to check my epidural site. And of course I was given no oral pain relief. I shouldn’t have needed it, as I had an epidural in place. It wasn’t until the next day, when they came to remove the epidural, that they discovered I was stuck to the bed with epidural fluid. A significant amount of the anesthetic had leaked onto the bed, not into my spine. I did get a very apologetic visit from the pain management team in a big hurry. But no apology from the various overnight nurses who had been virtually rolling their eyes when I reported my pain to them…only down-turned eyes and avoidance.

The second day was not much better. The only upside was that the nurses decided that I should be in a private room after all. I think a combination of my obvious ongoing distress, plus an obviously distressed and screaming baby helped them to make this decision.

That afternoon Sophie were unresponsive and pale when I was trying to feed her. I could not for the life of me wake her. She was floppy in my arms and completely non-responsive. I hobbled down the hallway to the nurses station yelling out “I can’t wake my baby I can’t wake my baby”. I was sternly reprimanded for carrying her down the hallway as it was “against hospital policy”. WTF? I’m scared that my baby might be unconscious, and I’m supposed to ring the bell and wait for a nurse to come? I don’t think so. This is my BABY we are talking about here. We had to strip her completely and wash her with a cold cloth before she could be roused. Then I went to change her nappy for the first time, and asked if I could be shown how. The nurse looked at me like I was a complete idiot, and made some off hand derogatory comment that I can’t remember. Perhaps it was the thousandth nappy she had changed, but I had never held a newborn before, never changed a nappy, I wanted to be sure I would do it correctly. I didn’t realize I would be expected to know how to do this.

That evening Sophie became jaundiced. They took her and put her in a little crib with the bili lights. She was stripped down to a nappy, and blindfolded. She hated it. She hated it so much that she just screamed and screamed and screamed. After several hours of listening to her screaming at my bedside, with me being able to do nothing to help, I begged the nurses to take her to the nursery so I could get some sleep. I just wanted the screaming to stop. After a couple of hours with no sleep, my guilt at abandoning her overcame me and I begged them to bring her back. She was still crying pitifully. It was so terribly sad. Here she was, brand new to the world, alone, blindfolded, stripped, flayed out, not being cuddled, not being held. The nurses never suggested to me that I could hold her. After a while I somehow figured out that I could hold her in my lap and move the light around so it would shine on her. She stopped screaming. I wish I had figured this out hours earlier. I felt like a bad mother for letting her scream so pitifully in that bili light crib for so many hours. Alone and helpless. And I felt angry that the nurses had not told me it could be different.

I think it was about then that I rang Frank in hysterical tears again. I think my underlying certainty that something was “wrong” with Sophie, combined with my grief over the birth process, amplified every little problem that happened during our hospital stay. I was distressed to the core and couldn’t cope with anything going wrong. Being a public hospital, husbands were not allowed to stay the night. But by now Frank was so damn sick of the treatment we’d been getting, and so upset with my distress, that he demanded to speak to the hospital administrator. It was about 3am but somehow the administrator was tracked down and Frank was given permission to come and sleep on the floor beside me. Thank god for that. Once Frank was there I felt safe. I felt like someone was on my side. I felt like the nurses wouldn’t dare mistreat me with him there. I felt like we would get through the next horrible few days until we could get the hell out of there and go home.

I received conflicting advice from every midwife in regards to how to go about feeding, how often to feed, how to get Sophie to latch. By the end of the stay I felt I couldn’t trust my mother’s instincts. I didn’t feel I could even judge how often to feed her. Should I wake her to feed ? Or leave her to sleep? The nurses and midwives insisted I should wake her every 3 hours, as she had been jaundiced and needed the fluids. The doula insisted I should let her sleep and feed when she wanted. Sophie wasn’t much help, as, unlike “neurotypical” babies, she only had one cry. She didn’t have different tones and noises for “hungry”, “cold”, tired”, “lonely” – just the one very high pitched wail.

By the next day, after only about 10 hours sleep in four days, I was starting to lose my grip. The doula suggested I should eat some placenta (which she had saved and frozen, as I intended to plant it under a tree). I had always thought that eating your placenta was something that crazy hippies did (I have a bit of the hippie in me, but not that much!). But at that point I would have eaten my right arm if I thought it would give me some respite. The doula dutifully shaved off some small pieces and placed them inside some avocado, suggesting I pretend it was sushi. I couldn’t bear the thought, but I was desperate. I swilled each mouthful down with a large swig of water. No chewing. Within 45 minutes I was relaxed, pleasantly light headed and very sleepy. Shortly after, I fell into my first peaceful sleep for days. I was a placenta eating convert!

During this whole period, I was dealing with growing concerns about the well-being of my child. From the day after Sophie was born I knew deep in my mother’s heart that something was wrong. To begin with it was something I couldn’t explain – I just thought she didn’t look quite right, and she didn’t feel quite right. I distinctly remember my family passing her around the room, and me looking on and thinking “there is something wrong with my baby”. The first icy twinges of fear closed around my heart. My fears were put down to an overreaction, as I was distraught about the birth and subsequent proceedings, and not coping well. But as the days passed I began to notice some physical differences. She didn’t have a grasp reflex, and no rooting reflex. She seemed floppy, and was having trouble breastfeeding. The doctors and midwives told me this was due to the drugs I had been given during the late part of my labour and the c-section. She had a simian crease, a sacral dimple, an umbilical hernia, and slight pectus excavatum (like a small “dint” in the center of her chest). One of her pupils looked bigger than the other. None of these things were noticed by the doctors. When I pointed them out, they brushed it off, and told me it wasn’t unusual for kids to have a few minor physical anomalies. Months later, when desperately searching for answers on the Internet, I was to discover that about 3% of the”normal’ population have one minor congenital anomaly, about 1% have two minor anomalies, and less than 1% have three or more. And that any baby with three or more minor anomalies should be considered as potentially having a genetic disorder…I’m not sure where those doctors went to medical school, but they must have missed out on that particular lecture.

All in all, my time in hospital was a pretty unhappy time. I just wanted to get out of there and back to the sanctuary of our home, where I thought things would improve. So three days after my c- section I discharged myself. I had imagined going home elated, thrilled with my newborn and full of the lovely bonding hormones of early motherhood. Instead I went home exhausted, in pain and feeling unheard and uneasy.   Pictures do lie!!! Or maybe not. There is a smile on my face, but you can possibly see the tiredness in my eyes….

 

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NEXT POST…FEEDING, SLEEPING, AND SEARCHING FOR ANSWERS