School photo day

Do you ever have a day where you just know nothing is going to go your way?  Well, welcome to my day.

Today is the day Miss Z has her school photo taken. I’ve known it was coming for about a week now. But even though forewarned is forearmed, I’m not sure how I could have changed things from how they turned out…

First of all, Miss Z’s scars from the surgery to have her port inserted are healing very slowly. The big scar on her shoulder isn’t very noticeable when she is wearing clothes, but the one on her neck is – it kind of looks like she’s been on the losing end of a knife fight.

She was also on the losing end of a battle with a mosquito and has a series of little bites down one arm. They match nicely with the scabbed over elbow from her wheelchair-trial-gone-wrong incident.

At some point, she’s also had a good scratch of her ears when frustrated. This means that her left ear has a big gash and has made her whole ear go a bit red.

She has also managed to bash her lip on something and it has been a bit swollen on one side all week, although I think it was a bit less noticeable today.

And because she likes to rub her face on things, and because she dribbles, she often gets some red spots on her face – presumably from repeatedly rubbing her face on her soggy floor mat. I can usually clear them up quite easily with a bit of tea tree moisturiser, but not today. Today, she looks like she’s a spotty teenager.

Still, she is (in my opinion at least) one of the most beautiful children on the planet, so it doesn’t matter if she has a few spots, cuts and scars – her personality will shine through on the photos, right?


Unfortunately, the personality shining through today might not be the one I was hoping to have captured. She woke herself up retching this morning (she doesn’t vomit often these days, since nothing is in her stomach, but she does still have bouts of retching, caused by those nasty secretions that are still lurking in her throat and chest) and it went downhill from there. My usually sleepy, cuddly, sweet little girl was screaming and crying from the time she got up. She wasn’t interested in her sister, cartoons or cuddles – although she was determined to try to remove that offensive left ear with her fingernails… I did manage to get her to stop crying before the schoolbus arrived, but she still didn’t look at all happy.

Vegemite consoled me by saying: “don’t worry, she’ll be happy once she’s away from you”.


It will be a few weeks before we get to see the results of the school photos. This year should really be a classic.


Proof it isn’t completely impossible to get a good photo of Miss Z…


I’m always getting people asking me why Miss Z is the way she is. As soon as I mention she has a genetic syndrome, people generally link ‘genetic’ with hereditary, and they’ll ask if it runs in my family or QB’s. The answer is neither – there is no evidence that it is something that she inherited from either one of us, or from a combination of our genes.

There is often an implication that I must have done something wrong during pregnancy – ate brie, lifted heavy objects, exposed myself to too much stress, inhaled too many car fumes, ate genetically modified foods. Again, none of those factors had anything to do with Miss Z’s condition.

Others like to suggest that perhaps it was caused because Miss Z was conceived by IVF. They can piss off.

Perhaps it was caused by vaccinations? The people who suggest that can piss off even faster and farther than those who suggest it was caused by IVF.

At the end of the day, what caused Miss Z’s condition was that when she was a tiny cluster of cells, something didn’t form quite as it should. Since she doesn’t have a diagnosis, we don’t know exactly what, but something was deleted or duplicated or just formed a bit dodgy.

This isn’t a particularly rare occurrance – lots of people have little genetic flukes, but most don’t know about it and it doesn’t affect their daily lives. Unfortuntately for Miss Z, hers has a major impact on her abilities and her daily life.

One of Miss Z’s doctors once told me about a study that was done in Australia shortly after the MRI came into use. Soldiers were invited to take part in a study where they would have an MRI brain scan. The results surprised researchers because a lot of the healthy, active, intelligent soldiers had anomolies with their brains. In other words, a lot of us have little ‘abnormalities’ that we may never know anything about unless we have our brains scanned or our our genomes sequenced.

One of the things I hate about Miss Z’s disabilities is how it seems to separate her from the rest of society. Her “special needs” make her different – abnormal, unusual, “special”. It makes people stare at her when she goes out. It makes people uncomfortable around her. It even apparently gives Donald Trump the right to imitate and mock her (although that doesn’t seem to be reserved for people with special needs).

Which is why I love a term I’ve recently run across: neurodiversity. Since I’ve only just come across the concept and am far from being an expert on the term neurodiversity, I will quote another blog, Neurocosmopolitanism, on what neurodiversity is:

The neurodiversity paradigm is a specific perspective on neurodiversity – a perspective or approach that boils down to these fundamental principles:

1.) Neurodiversity is a natural and valuable form of human diversity.

2.) The idea that there is one “normal” or “healthy” type of brain or mind, or one “right” style of neurocognitive functioning, is a culturally constructed fiction, no more valid (and no more conducive to a healthy society or to the overall well-being of humanity) than the idea that there is one “normal” or “right” ethnicity, gender, or culture.

3.) The social dynamics that manifest in regard to neurodiversity are similar to the social dynamics that manifest in regard to other forms of human diversity (e.g., diversity of ethnicity, gender, or culture). These dynamics include the dynamics of social power inequalities, and also the dynamics by which diversity, when embraced, acts as a source of creative potential.

from the post: Neurodiversity: Some Basic Terms & Definitions

In other words, we all have different brains and minds. Miss Z isn’t ‘special’ or ‘different’, she is just part of the wonderfully diverse range of how we all think and function. She is just part of the beautiful mix of life.

In closing, I will share a little video on neurdiversity that will make you smile (apologies if it is repeated a couple times below, Miss Z is getting grumpy, so no time to figure out how to correct it!):

A rare life – day 24

I love someone rareMonday, 29 February is Rare Disease Day, and also marks the end of my challenge to blog every day. I hope that my daily posts have given you some insight into life with a child with a rare disease – so rare, in fact, that we haven’t yet figured out what it is…

I have decided to end the challenge with an article that I wrote last year to be published on the Firefly website. I really liked the article, so think it is worth re-publishing here, with a few improvements and updates, of course.

Thank you again for following along with our rare life during these past 24 days.

My daughter’s label has fallen off

I am an accidental expert at choosing items in a shop that are missing their price tags. Yes, I’m that person who holds up all the other shoppers waiting to check out, while a grumpy teenage employee drags his feet all the way to aisle 12 and back again for a price check. I don’t do it intentionally, but it just always seems to happen.

So, I suppose it is only fitting that when Miss Z was born, she was missing her label. When she was first born, we didn’t even look for her label, simply assuming that it read “healthy neurotypical infant girl”.

OK, that’s a lie. When Miss Z was born, we knew nothing about special needs and wouldn’t have had a clue what “neurotypical” meant. We would have just called her “normal”.

But it turned out that whatever was written on that missing label, “healthy” and “neurotypical” weren’t part of it. At 6 months old, she was given a new label: “epileptic”. That was swiftly followed by one of my least favourite labels: “global developmental delay”. But neither of those quite got to the heart of what was on her label. They were like the washing instructions, not the front-of-the-box, big letters, this-is-what-it-is label.

A pediatrician briefly put a “cerebral palsy” label on her, but it didn’t stick. Occasionally a medical professional tries to stick it back on, but that label lost its adhesive long ago.

At one year old, she was given a new label: Rett Syndrome. I did my research and was sure this one was it. Her label so closely resembled the Rett lable that her paediatrican and geneticist were sure that was her missing label. Except the genetic tests said it wasn’t. So, we peeled the Rett label was peeled off.

In the meantime we were furiously accumulating symptom labels: cortical visual impairment, apraxia, microcephaly, hypotonia, dysphagia, complex motor stereotypy, scoliosis and osteopenia – to name but a few. We generally had no clue, at least initially, what any of these labels meant. It was like the list of ingredients on the label of instant noodles – lots of long, complicated words that have no meaning to you, but you know instinctively that they’re not good.

We kept searching for Miss Z’s front-of-the-box label. The geneticist gave her a “CDKL5” label and it stuck for about six months until the genetic test came back, telling us that it wasn’t our missing label either. Another label was peeled off and thrown away.

After over a year of fruitless searching, our paediatrician suggested that we make our own label: “atypical Rett Syndrome”. He reasoned that Miss Z fit a clinical diagnosis of Rett Syndrome and the “atypical” could cover the fact that she didn’t actually test positive for it. Our hand-written label has been stuck on her ever since.

The only problem is that we don’t really know if our label is right. Every medical professional has his or her own opinion, ranging from “she is absolutely a Rett girl” to “she isn’t remotely Rett-like”. Miss Z is like a tin can with no label that you find at the back of the cupboard – you think it is probably green beans, but you just don’t know for sure. And we may never have a clear answer.

Being undiagnosed – unlabelled – is hard, although it is far harder for me than for Miss Z. I worry constantly about her future, as we have no idea what her prognosis will be. I wonder if there is a treatment or therapy out there for her specific condition that might help – but that we aren’t getting because Miss Z is undiagnosed. I feel like we are guilty of not doing enough to find out her diagnosis. Surely there is another test? A research study? Something?

Whereas, Miss Z just carries on being her own unique, hilariously grumpy self, who loves listening to Beyonce in the bath and being held while she sleeps, fakes exhaustion whenever a therapist enters the room, and can give the fiercest dirty looks on the planet.

No label is ever going to capture even a fraction of whom she is. But that doesn’t mean we won’t stop hoping that someday the right label finally sticks.




A rare life – day 23

Our life is dominated by routines. There are the routines we cannot skip – such as the morning and evening meds – and there are routines that fly out the window on the weekends – like the routine of getting everything set up for the next morning. Being ruled by routines isn’t necessarily a bad thing – I think everyone in our family feels better when they’re sticking to a routine, and no one more than Miss Z. And, every weekend when I get a bit soft on routine enforcement, I’m reminded why they are so desperately important.

The GJ tube and the Ketogenic diet have forced me to change Miss Z’s routines, and for the past month, it has really been a learning curve. With the GJ tube, Miss Z needs to be fed 17 hours a day, with breaks of no more than 4 hours. And with the Ketogenic diet she has to have an exact amount of formula every day – which I need to mix up every night based on a very specific recipe. The formula is only good for 24 hours and shouldn’t be unrefridgerated for more than 4 hours.


Preparing Miss Z’s daily Ketocal formula

It will come as no surprise that at the start of the Keto diet, I had to sit down with a calculator and some paper and devise a feeding plan. And then I discovered that the feeding plan didn’t go to plan – mainly because it didn’t take into account the fact we stopped her feed every time she needed to be moved or had her nappy changed.

It also meant that as well as the feeds, I also had to try to fit in blood tests every morning before the school bus arrived. Since the bus is a new part of our routine, too, it added even more stress. When I was driving both girls to school, I had about 10 minutes of wiggle room before I considered us to be running late. No longer – we have to be ready to roll Miss Z to the curb when the bus pulls up in the morning. The bus driver is understanding, but not 10-minutes worth of understanding…

The Keto diet and the GJ tube have also changed the meds routine – although not as drastically. Since Miss Z now has two feeding tubes, I have to remember to tie a bit of ribbon on the tube that goes into her stomach (G tube), so that I can give her meds through the right tube when she’s asleep in bed at night.

More frustratingly, the Keto diet means that ALL of Miss Z’s meds now have to be in tablet form, which means more cutting, crushing and dissolving for me. Some of the new tablets crush easily and dissolve quickly, so its no big deal. Others – Keppra tablet, I’m looking at you here – are difficult to crush, get stuck in the end of the syringe, and take forever to dissolve, which can be a big hassle if I’m in a hurry.


Start of the evening meds routine


Not only do we have strict routines we have to follow, but we also have to be very well organised. Running out of a medication or failing to charge a key piece of equipment is disasterous. Miss Z has a number of cupboards dedicated to her equipment and supplies. We also have charging stations set up in her bedroom for her feed pump and suction machine so they can charge overnight and run on battery during the day. And we keep a daily diary to track Miss Z’s seizures, health and anything new we might introduce.


One of Miss Z’s many cupboards

Keeping on top of all these routines and keeping everything organised can be exhausting. But it keeps everything running smoothly. And Miss Z likes her routines. None more so than the last one of the day (her day, at least): the bedtime routine. Nothing makes her happier than a bath, pyjamas, story and bed.


Happy in the bath


A rare life – day 22

I ran across this video  and had one of those “yes!” moments.

The last sentence sums it up perfectly: “Rarely can a response make something better; what makes something better is connection.”

I get a lot of sympathy for Miss Z, and for us as a family. Sometimes, I am feeling a bit sorry for myself and the “oh poor you, how awful!” comments are appreciated, if only because it helps to know that others recognise that I’m going through some tough times.

But most of the time, I honestly don’t know what to do with the sympathy. How do I respond to someone agreeing with me that my life is currently a bit shit?

And I’m not denying that it can be a bit shit. Truly, 2015 was one of the shittiest years on record. So, you are all welcome to sympathise with me that over the course of that year my beautiful girl was seriously ill on numerous occasions – to the point where her doctors were constantly wondering if she would recover or not.

No response to “Miss Z has been referred to palliative care” was going to make the situation better.

But it also sometimes feels as if sympathy is used to intentionally fuel a disconnection. If you sympathise with my “terrible situation”, it reminds you that your child isn’t receiving palliative care. Does being sympathetic of Miss Z’s situation make you feel better about your own life?

The other side of the sympathy coin is that some people seem to not want to mention Miss Z at all. I’m never sure if they feel sorry for me and don’t want to mention the “tragedy” in my life that is having a disabled child, if disability makes them uncomfortable so they avoid it, or if it is a case of not really knowing what to say. I understand about not knowing what to say – I’ve never been particularly eloquent – but it certainly doesn’t help to form any sort of connection with me if you’re pretending that one of my children doesn’t exist…

Writing this blog on a daily basis throughout February has really made me realise that despite all these unique challenges we face, a lot of our lives are pretty ordinary. My biggest stress at the moment is trying to get two kids ready for school every morning. My greatest joys are when my girls achieve things that previously seemed unobtainable. My biggest relief is to be able to have a nice dinner out with my husband and leave the kids at home with a good carer. My biggest worry is how to balance any semblance of a career with raising two children. None of these things has to do with Miss Z having a rare disease.

Yes, there are a lot of differences, but there are also a lot of similarities. So lots of opportunity for a connection.

Give empathy a chance.


No sympathy required