I wasn’t expecting that…

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Unimpressed with another visit to the hospital

Months ago now, Miss Z had an appointment with her neurologist. I love her neurologist – not only does she obviously care about Miss Z and actually take the time to have a discussion with me, but she is also a sincerely nice person. Plus, she recognised us in a shop one day – completely out of the neurology context and remembered both Miss Z’s name and mine, which reinforced my belief that Miss Z is more than just a patient number to her.

At the appointment, the issue of Z’s genetics came up again. We’ve taken a long break from trying to figure out the cause behind her issues and have instead embraced the clinical diagnosis of ‘atypical Rett Syndrome’. At first, we decided to take a break because Miss Z was in a good patch, and we just wanted to enjoy the good times and not spend more time with doctors. And then she hit a bad patch and we were too busy dealing with her health issues to think about doing anything.

The neurologist has always been a proponent of figuring out the genetic origins of Miss Z’s condition. So, when the conversation came up, I asked what the next steps would be, since after testing for Rett and CDKL5, it felt a bit like we’d come to a dead-end.  She mentioned exome and whole genome sequencing, but QB and I aren’t particularly keen as it is very expensive and we feel that the money could be better spent on therapy, equipment and activities that would directly improve Miss Z’s life.

We chatted some more and she suggested that she refer me to a paediatirican who specialised in – amongst other things – genetics. I’d heard of him on some of my Facebook forums, so agreed. Then I kind of forgot about it.

So, when our appointment came round yesterday, I wasn’t quite sure what it would cover. Initially, I’d suggested to QB that he take time off work to attend, and then later worried that perhaps I was making out to be more than it really was, so suggested that he not come.

I wasn’t actually at the top of my game for the appointment either. I was feeling a bit hot and sweaty since I’d over-dressed for what was a lovely, warm winter day in Brisbane – and the hospital was equally unprepared as they seemed to still have the heating on. I was distracted because I ran into the neurology fellow in the waiting room and was engrossed in discussing the pros and cons of putting Z on the ketogenic diet when we were called back to see the doctor. And Miss Z was in a less than cooperative mood – having been plucked out of school early for the appointment.

The appointment exceeded my expectations. He did a case history, and asked a lot of seemingly random questions about Miss Z. He asked to see photos of Vegemite and QB on my phone. He was fascinated by the fact Miss Z’s hair is striped – each individual hair has darker and lighter bands of colour. He examined her legs, which are quite furry and asked if I thought they had been like that from birth or occurred later. He commented on her eyebrows. He asked several questions about her osteopenia. His questions all seemed a bit random, but he was obviously considering and ruling things out as he went along.

We concluded the appointment with a plan. At Z’s next pamidronate infusion (when the line nurse is inserting the cannula), they will take some blood samples. The doctor thought there were a few tests that hadn’t been run yet that were fairly quick and easy. He also wants a hair sample to send to a specialist in hair pathology. And if none of that turns up an answer, he will aim to get Miss Z onto an upcoming medical trial that involves exome sequencing – and since it is a trial, that means the test will be free.

To be honest, I had given up ever having a diagnosis for Miss Z. Of course, even with our new plan, we may not get an answer. It feels good, however, to be back looking. After trying to make my peace with being undiagnosed, I wasn’t expecting that…

Everything is a-okay

I am one of those perpetual people-pleasers who never wants to disappoint anyone. Keep them all happy and they’ll like you.

I am also one of those people who doesn’t like to share my feelings. I don’t like to do it and I don’t even really know how to do it, even if I wanted to. Which I don’t.

And this all makes it very uncomfortable when I have bad news. I don’t like to tell people bad news. I learned this a long time ago, back when QB was diagnosed with leukaemia and had a bone marrow transplant. Keeping friends and family updated usually meant that I stuck to the facts – the treatment plan, what the doctors had said that day, how QB was feeling, that kind of thing. Always with a positive twist, a bright point to the day. Because after all, no one wants to hear anything bad. And I didn’t want to tell them anything bad. After all, what could they do if I did tell them just how much it sucked?

I was, rightfully, superfluous to the update. If anyone asked, I mentioned how busy it was balancing work and hospital or the different meals I was cooking to take into him every afternoon. If pressed about how I was feeling, I would say I was tired – and stress eating Malteaser ice cream bars.

But that is nothing compared to trying to share news about Miss Z.

Most of our family and friends are overseas. Do I send them an email? Message them on Facebook? Call and casually bring it up in conversation? Or let them find out by reading my blog?

Or not tell them at all? After all, there really isn’t any news to share – its not like anything has changed from last week or even last month.

How do you share bad news about your four-year-old daughter? My few attempts so far have more or less been total failures.

Although it probably isn’t nearly as bad as trying to tell people in person. I have the distinct feeling that several people wonder if I’ve lost the plot. After all, who remains positive and upbeat after telling you their child is unlikely to ever recover from her chronic respiratory problems and as a result is expected to be ‘life limited’. But that desire to please kicks in and I smile and mention all the good things – the communication revolution, success at school, an upcoming holiday – rather than lingering on the bad news.

One of Z’s therapists asked me today how I could still be so positive and I replied “denial”. After all, there is a healthy dose of that, too.

I keep thinking that maybe I am making something into more than it really is. Perhaps I misunderstood what her doctors have been telling me. And after all, no one really knows what is going to happen, so why dwell on the negative?

Except the negative is a big weight hanging around my neck, distracting me from everything else.

Which is ridiculous. Its not like QB and I haven’t suspected this could happen for a long time now. Children with complex medical issues like Miss Z don’t always go on to live long and healthy lives. We know this. Last year, after she had a status seizure and was nearly intubated because her sats dropped so low, QB and I acknowledged to each other that it could happen again that she might not come home on that occasion. So it isn’t like we were totally unaware.

But it is also like when we were first told by a doctor that Zoey had permanent “problems” that she wasn’t going to ever outgrow. We knew (or at least strongly suspected) that before we had taken her to the doctor – after all, that is why we had gone to see him, because we knew there was something wrong. But we were still devastated to have it confirmed by a doctor. So, we knew it was bad that Miss Z had been suffering from recurrent chest infections since December, but it doesn’t make it any easier to hear.

What feels hardest for me at the moment is feeling like the rug has been pulled from under my feet – again. I had come to accept that Z would always have special needs, that she would always need assistance, and that she would always live with us. I have tried my hardest to embrace that new scenario over the past four years and it no longer seemed scary or unpleasant – it was full of new opportunities. I was inspired by parents of other special needs children who emphasised if we could only do the right therapies the right number of times, Miss Z could sit, walk, communicate. I met parents of young adults with complex disabilities who were living happy, fulfilling lives – and equally importantly, so were their children.

Now, I’m not sure if that is where I fit any longer. Of course I’m not going to give up on the therapies or the hope of a bright future, but suddenly the medical side of things outweighs everything else. Whereas before it was about using therapy and determination to expand and improve Miss Z’s world, it is now about medically managing her from home in order to avoid hospital admissions.

But for now I’m trying to live in the moment and not worry too much about what might – or might not – happen in the next week, month, year, decade. So, if you ask me how I am and I say “fine” that is because it is. Right now, everything is okay. And here’s hoping it stays that way.

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The (communication) revolution will not be televised…

As I’ve mentioned several times, we are launching a communication revolution here. And I couldn’t be more excited.

And in light of all the bad news we’ve had lately, its good to be able to focus on something positive.

First, let me give you a little background into Miss Z’s communication and what we want to achieve with augmented and alternative communication (AAC).

Miss Z is non-verbal. She makes lots of vowel sound noises (mainly ‘aaaah’ and ‘ooowah’), but doesn’t articulate other sounds. This doesn’t mean she isn’t able to communicate – in fact, she can be surprisingly effective at getting her point across. As I regularly assure therapists, nurses and doctors, if she doesn’t like something, she will lose no time in telling you very clearly. A small few of us (who spend a lot of time with her) can also understand when she’s happy, very happy, bored, in pain or frustrated, mainly through a combination of the tone of her voice and her actions (arm waving and head shaking are happy signs, ear scratching and hair-pulling mean unhappy).

Miss Z also has very limited use of her hands. She can’t independently isolate one finger from the rest (for example pointing or giving a ‘thumbs up’) and can really only do big, gross motor movements. For this reason, sign language isn’t very successful for her. She is able to do a few basic signs and understands several more if she is doing body signing with a therapist (where they do the sign together), but it is never going to be her easiest or preferred mode of communication.

So, this is where our Communication Revolution begins. We need to find a system of communication that is right for Miss Z.

Fortunately, Miss Z was born at the right time. Even less than 10 years ago, there was very little out there to assist with communication, apart from some specially-made communication devices that were prohibitively expensive or home-made communication books (essentially a book with a bunch of words, pictures or the alphabet that a person would point to). Then the iPad came along and suddenly there was an affordable piece of technology that could assist communication – and a whole bunch of programmers writing apps to do just that. Of course, the iPad isn’t the only new means of communication, but it is a good place to start.

So, for her fourth birthday, Miss Z got an iPad and we are hoping that she will use it to communicate.

This is the start of a revolution that could change Miss Z’s life. And that is not in any way an exaggeration. Until now, she has been unable to communicate almost anything with the outside world. For the past four years, her main mode of communication has been crying when she is unhappy / uncomfortable / in pain / bored / frustrated. Essentially the level of communication of a baby. But she’s not a baby any more – she’s four years old – and it must be unspeakably frustrating to not be able to communicate even basic requests such as “I’m cold” or “I’m hungry”. And I know that she has a lot more to say than just that. I have no doubt she wants to tell her sister to move from in front of her when she’s watching cartoons. She wants to tell us she’s bored sitting in her beanbag and would rather roll on the floor or go for a walk.  She wants to say that her back brace is pinching or her nose itches. And she definitely wants to tell the doctors and nurses a few words that probably don’t appear on children’s communication books or devices…

By finding the best means for her to communicate, it will open up the whole world to her.

Here is what I’d like to be able to write:

In the two months since Miss Z got her iPad, an overnight revolution has occurred. We purchased an expensive and extensive AAC app that she swiftly mastered and has been communicating with us in increasingly complex ways ever since. It took her very little time to learn how to use the app and she now is better at it than we are. We take it with us everywhere and she is constantly using it to express herself. She has learned to isolate her pointer finger and make selections on the screen swiftly and easily. Using her iPad as a communication device is the best decision we’ve ever made. 

But here is what actually happened:

It is a slow process.

We bought the iPad. I set it up and downloaded Miss Z’s favourite songs and cause-and-effect apps on it. There were then several weeks where we used the iPad mainly to play music for Miss Z.

Then we had an appointment with her Speech Pathologist (speechie). He and I basically spent the hour playing around on the app store and debating the pros and cons of several different apps. There was one that would be ideal, but neither of us could get it to record words, and without sound, it was less motivating to Miss Z. We finally decided on an app that looked appropriate for Miss Z, called Go Talk,  and downloaded the (limited) free version of it.

I played around with it, adding some photos and words. And I played around with encouraging Miss Z to make selections from it. She wasn’t particularly interested.

Then we had another appointment with the speechie and he changed the set-up. On the free version, we only have five pages to use. The speechie prioritized things that will motivate Miss Z, so we selected four activities: bouncing, swinging, listening to music and watching tv.

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On the second page, we gave her the opportunity to refine some of her choices. So, if she was bouncing or swinging, she could ask to: go fast, go slow, have more of the activity, or stop.

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If she was listening to music, she could select which song she wanted to listen to – the app is great in that we were able to set up the music to play as soon as she touches the button.

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And if she wanted to watch television, she could select which programme she wanted to watch. At first we had to let her make a selection and then find it on the tv, but I worked out how to immediately play brief video clips when she makes a selection. Instant results are always best.

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The final page has her family (including her au pair!). Although we don’t use this page much at home at the moment, they discuss families at school, so I’m hopeful she will use it more there. In fact, I’ve provided school with a huge number of photos so they can set up some picture boards for her.

Our first time trying the app, we put Miss Z on the trampoline and encouraged her to choose how fast or slow she bounced. It was something of a challenge to position her so that she had an arm free to touch the iPad, but was still comfortable on the trampoline. There was a lot of encouragement, a bit of help, and a few moderate successes (I treat everything as intentional, even though sometimes she might be touching the screen accidentally).

Since she fractured her leg, the bouncing and swinging are out, so we’ve focused on getting her to choose music and tv shows. Sometimes she seems to choose something very intentionally. But most of the time, she either swipes randomly at the screen or ignores it completely.

We have also started trying to get her to make yes/no decisions through the use of cards and a different app on her iPad. “Do you want to listen to music, yes or no?” Again, we are usually lucky if she actually gives us an answer, but we just need to keep persevering. Even being able to communicate yes and no will give her a greater say in her life.

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Miss Z has dyspraxia, which means the messages from her brain aren’t transmitted properly to her body, affecting her ability to move. This also means it takes a considerable effort to strike the right square on her iPad. And it can take time. And sometimes her arm or hand needs support to help her to do it.

Today, we saw a faciliated communication specialist who spent a very, very long time waiting for Miss Z to get her muscles organised to be able to reach out and answer when he asked her a question. He helped her by holding her hand with her index finger extended, helping her to control her arm, but importantly leaving her to initiate if and where she points. Our communication revolution is not going to be rushed – it will arrive at the pace of a snail. Patience is a necessity.

The process of holding or touching a person so they can focus better to communicate is called facilitated communication. It is a somewhat controversial means of AAC, because the person doing the holding or touching, if not trained properly, can influence what is being said by directing the speaker to particular words. However, it can also help people to communicate who might not be able to do so on their own. If Miss Z ends up using an iPad to communicate, I think she will certainly need facilitated communication because her dyspraxia and her tendency to get distracted by repetitive actions mean communicating completely on her own would be very challenging – particularly at first.

But, it might also emerge that the iPad and facilitated communication isn’t the best communication tool for her. Another form of AAC is eye gaze technology, where the user looks at a picture or word, instead of pointing to it, and the computer tracks their eye movements. This technology has been made famous by Stephen Hawking, but in recent years (who has his eye gaze devices made specially for him by Intel) has become increasingly more accessible to everyone. So, the facilitated communication specialist we saw today is going to put us in touch with an eye gaze specialist, so that we can also give that a try – which quite frankly, would be awesome.

I have no idea at this point which approach will work better for Miss Z. So, the plan is to test out both systems, consult with specialists on both, make a decision, and then give it a go. In the end, we may also find that there is no ONE system that works best for Miss Z, but we will instead use a combination of different approaches.

So, the great communication revolution isn’t starting with a bang, but rather a long, slow consultation process, a lot of trial and error, and even more patience. But I am determined we will get there in the end – and excited about the process. The revolution may not be televised, but as it progresses, you can be assured there will be plenty of video clips on here to watch!

And in the meantime, have a look at how eye gaze technology works:

My still point

At the still point of the turning world. Neither flesh nor fleshless;
Neither from nor towards; at the still point, there the dance is,
But neither arrest nor movement. And do not call it fixity,
Where past and future are gathered. Neither movement from nor towards,
Neither ascent nor decline. Except for the point, the still point,
There would be no dance, and there is only the dance.

    -T.S. Eliot

I recently finished reading “Still Point in a Turning World” by Emily Rapp. If you are looking for something to read that will make you think, I recommend it. The author wrote the book after learning that her son had Tay Sachs disease – a rare, degenerative genetic disorder that is always terminal.

But don’t read it if you want a voyeuristic look into her son’s short life – that isn’t what the book is about at all. Instead, Rapp explores her grief at her son’s diagnosis and also the significance of his life – devoid of ambition or achievement – and her role as his mother. She uses literary, spiritual and religious references to delve into the meaning of life and grief. The book is raw and beautiful and thought-provoking.

But it isn’t a book I can really explain. I tried discussing it with QB and fell well short of any real meaning. It is probably the first book I’ve read since becoming a Kindle convert where I thought that I really needed to have the book in hard copy, so that I could go back and re-read sections and highlight passages.

Although I finished reading the book a few weeks ago, it is on my mind today. Perhaps because after nearly six months of battling Miss Z’s chest infections and two very sobering appointments with Z’s Respiratory Consultant and Paediatrician, I am beginning to better understand how the author felt when she wrote the book.

Miss Z doesn’t have a terminal disease. But she is increasingly likely to be chronically ill for the rest of her life. Her doctors believe that her chest infections might be controlled, but are unlikely to ever go away. And, at some point, she will become seriously ill from them.

I’ve come to terms with her special needs. QB and I accept that she is unlikely to ever walk, or talk, or live independently. Vegemite and I have discussed how it is unlikely that Miss Z will ever get married or have children. All of this we have accepted.

But now I feel like I must come to terms with something new – something worse.

I’ve always told myself that Miss Z’s health will improve with age. It seems the way with a lot of children with Rett Syndrome and CDKL5 – the younger years are the hardest. But now I need to accept that might not be the case. And that the biggest determinant as to how much time Miss Z spends in the hospital in the coming years will be our ability to cope with her medical condition at home.

I haven’t finished processing the information I’ve been given at Miss Z’s latest appointment, so I’m not quite sure what to do with it all yet. And of course no one knows the future, so Miss Z could also kick this latest infection and go on to be chest infection-free for many years to come. So, there is no grand conclusion to this post, it is simply to get it all out of my head so I can continue to function, go make dinner, focus on the “Communication Revolution” and maybe even manage to get a bit of work done.

And in the meantime, I’m off to buy that book…

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Cuddles and cartoons

 

The cat takes over – an occasional series

Dealing with fractures and seizures and chest infections can get you down. So, I thought I’d inject a bit of levity with a post about the member of our family who is all but forgotten on this blog, but who tries very, very hard to be included – especially when there is special needs equipment about. I’m speaking of our cat, Juno.

I sometimes think that being the fogotten one, perhaps Juno is trying to take the place of Miss Z in family life. But then again, perhaps she’s just strange. After all, when she was a kitten, she liked to sleep in desk drawers…

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I don’t care if you need a ruler, close the drawer and let me sleep!

 

Juno moved to Australia with us from London and has assimilated to the Aussie lifestyle exceedingly well. She has learned that she can’t climb a tree as well as a possum and that geckos are fun to catch, particularly as their tails fall off when they get scared, but aren’t so good to eat. However, she still doesn’t understand why we weren’t more gracious when she brought us a live snake as a gift – twice. (no photos of that – I was too busy panicking at the time).

Although when Vegemite was a baby, Juno often tried to sleep in her pram, that was really as far as it went. However, with the arrival of Miss Z, Juno suddenly realised that babies were good for something – providing her with new places for naps. One of her favourite locations was Miss Z’s bouncy chair – although Miss Z loved it with a passion as well, so Juno had to act fast if she ever wanted a nap there.

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Get out of here unicorn, this is MY bouncy chair.

 

Once she realised that the high chair usually came with a free coating of pureed food, she was right there, too.

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What’s for dinner tonight?

 

And Juno was probably the only one who didn’t feel sad when special needs equipment began arriving at our house. Instead of seeing it as signs of limitation, Juno chose to view it as the expansion of opportunity… for naps.

With this attitude, she swiftly embraced the Jenx Giraffe chair,

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The lateral supports make a nice place to rest my head.

 

and the Seat 2 Go,

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This seat gives me so much room to move, I can even lick my toes…

 

and the Child Rite seat.

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It makes me sit up nice and straight, too.

 

It was also nice of those people at Epilepsy Action Australia to send her that comfortable ‘epilepsy teddy bear’ – it comes in useful for naps on the bed.

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Who needs stuffed animals when you have me?

 

But in her opinion, by far the best thing we have purchased for her/Miss Z were beanbags. At first, she wasn’t so happy, because we only had one, which meant sometimes she had to share…

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When is this human going to get off my beanbag?

But eventually we humans realised the error of our way and bought her one of her own, so she and Miss Z could watch ‘Sofia the First’ in comfort.

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Hmm, now if I can just get her blanket, too…

 

 

Ben has tried to join in the fun by using Miss Z’s wedge pillow, but dogs just can’t carry off the attitude.

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This isn’t as comfortable as it looks…

 

Sadly, it appears that the big loser in all of this is poor Vegemite. She has been relegated to the dog bed on the deck.

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Vegemite in her new bed.

It’s tough being a sibling. Though that’s nothing compared to having Juno in your family.