Four Eyes


Too cute! 

A crazy thing happened when Miss Z last visited the ophthalmologist. He declared that she needed glasses.

The first thing that everyone asks me when I tell them this is: how did he figure that out?

Good question! Miss Z is non-verbal, so she isn’t reading letters off a chart or telling the eye doctor which lens makes the image look clearer. In fact, because the ophthalmologist always has the nurse dilate Miss Z’s pupils before seeing her, she is invariably in a grumpy mood and takes non-cooperation to a whole new level with the poor doctor, who is actually a very nice man.

I can’t really explain how he did it. He had a device that he held up to her eyes, he looked in the other side and then fiddled with some buttons. After a bit of fiddling and adjusting, he put the device in a docking station and it printed out a report, which told him she was far-sighted and had astigmatism. He was surprised – Miss Z has annual eye checks and they’ve never indicated that she needed glasses before – so did the tests with the device again and got the same results.

Miss Z has CVI – cortical visual impairment – which means that even when her eyes work properly, her brain doesn’t always interpret what she is seeing correctly. So, even if she didn’t need glasses, things might appear blurred or out of focus to her. It also means that her sight can be variable – one day her vision may be good and the next very poor. I find particularly after she’s had a few bad seizure days that she rarely makes eye contact or looks directly at a book or the television. I interpret this as Miss Z having a ‘bad vision’ day. Other days she makes great eye contact and stares fixedly at things, suggesting it is a ‘good vision day’.

Fortunately, our ophthalmologist recently attended a conference where one of the speakers was a strong proponent of kids with CVI wearing glasses if they needed them – and her argument convinced him. Apparently, some eye doctors don’t think it is worth the effort of prescribing glasses for someone who already has a vision impairment.

Of course, in true Miss Z fashion, getting a prescription for glasses was the easy part. We then had to find an optomitrist who could fit Miss Z with glasses that would actually be comfortable and virtually unbreakable. It took a bit of effort, but we found a place in the end that carried a wide range of children’s glasses.

Trying on glasses took Miss Z’s refusal to cooperate to an entirely new level. Fortunately, Miss Z’s stylist (aka Vegemite) was there to make the big decisions on style and colour.

So, Miss Z now has glasses. And they make her even cuter than she was before, if that is even possible.

She’s not crazy about wearing them. Some days she doesn’t seem to mind, but other days she will spend all her time and energy on trying to knock them off. They have a band that goes round her head, so it is difficult to get them off completely, but she can still knock them skew-whiff.

It is hard to tell how much of a difference they make to her. I suppose that with her CVI, the glasses make a different difference to her every day – on bad vision days, they won’t help her to see any better, but on good vision days, they may help a lot. And her vision is becoming increasingly important as we focus more and more on communication through eye-gaze (more on that later!).


So, we’ll keep putting them on her, in hopes that she’ll get used to them and be happy to wear them more often. And in the meantime, at least they provide a bit of comedy.


Keto Fail


Home after yet another visit to the hospital

Back in February, Miss Z started on the ketogenic diet. For those of you who have forgotten, the keto diet is a special high fat, no carb diet that can help to control seizures. It works for approximately 50% of people – 25% see seizures stop completely whilst the other 25% have fewer and less intense seizures. There is no way to tell if the diet will work for someone without trying it.

Miss Z is part of the other 50%. The 50% where the diet has no effect.

She was on the diet for four months. During that time, her seizures actually increased in frequency and intensity. She went from having tonic seizures (where her arms and legs go stiff) to having tonic clonic seizures (where her arms and legs stiffen and then start jerking – it used to be called a grand mal seizure). She also dropped in weight from over 20kg to 18kg – and started to look quite thin.

I don’t think the increase and change in seizures was caused by the ketogenic diet. I think that it was just part of Miss Z’s seizure cycle (we have good control for a period of time and then she goes steadily downhill). She also had a number of health problems during the four months, including a central line infection (which eventually resulted in her portacath being removed), a nasty chest infection and gastritis (which caused her to vomit blood). My (completely unprofessional) opinion is that the diet just didn’t make a difference, which meant all the other factors contributed to an increase in seizures.

By the end of four months, it was clear it hadn’t made any difference. In the end, it wasn’t a huge disappointment. I think the realisation that our diet experiment had failed crept in slowly over the course of several months, so that by the time QB and I decided to take her off it, we had already overcome any  feelings of disappointment and sadness. In the end, I was just glad to not have to wash bottles and mix formula.

Miss Z is now completely off the ketogenic diet and back on her usual (and much more nutritionally balanced) formula. Coming off the keto diet hasn’t made any difference to her seizures, which she still has nearly every morning.

One of my top goals for the diet was to try to wean Miss Z off some of her anti-seizure medications. She is on four different drugs (Epilim, Keppra, Topamax and Frisium) at the moment, which is a lot of drugs affecting one small girl’s brain.

Yesterday we had an appointment with Miss Z’s neurologist. We discussed reducing her medications and the doctor pointed out that there is no sense keeping her on four drugs if she still doesn’t have seizure control. So, we’ve come up with a plan to try to stop some of these morning seizures (by increasing one of her medications) and then begin to wean off another medication.

It feels good to have another plan. Of course there is no guarantee that this plan will work either. But there are never any guarantees with Miss Z. And we can only carrying on trying until we find something that works.

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.