My daughter Eva has Rett Syndrome; a rare neurological disorder that in her case, left her locked in a body that would not work for her from the age of 9 months. I went from being a photographer to being a mum to being a rudimentary therapist, advocate and ranter. This blog is here to share ideas, thoughts, therapies, recipes, advice and sometimes have a rant. or two.


Tuesday, October 20, 2015

Camping

Going camping was slightly terrifying to begin with..  filled with questions about how Eva would cope, how we would cope and what we would do in the event of blah blah (insert worst nightmare scenarios here..) and it almost stopped us from taking the leap.

But for two years in a row now we have done an Easter and September camping trip with some great friends and had the most fantastic time.  It hasn't been easy that's for sure.  Packing equipment like the Stingray and Hippocampe meant we had to buy a trailer as it wouldn't all fit in the back of the car.  And the mighty long lists of medicines and foods and herbal medicines..  Yikes.  No showers or running water toilets and no electricity. And my back has seen better days at the end of the few days of lifting and hauling around that I seem to end up doing.  But it is SO worth it we wouldn't have it any other way.  
There are so many joyous moments some of which are captured below.  Whale watching, kangaroo watching, finding easter eggs in the sand, going on treks across the beach in Eva's beach wheelchair (Hippocampe) that all the kids are desperate to commandeer, lazy afternoons listening to audio books, getting covered in clay at the beach inlet and general shenanigans. But the best thing by far is seeing the relationships Eva is forming with the kids and adults around her.  They truly love her, look out for her and try their best to include her whenever possible.  They have all learnt how to communicate with her and know when she's having trouble communicating or just needs a break.  It proves that it really isn't that hard to pick up.  And despite the fact Eva's face sometimes doesn't show it we know she loves them back.  We did a big check of what she did and didn't like about camping and you can see the results below.  It was overwhelmingly positive in favour.  Just need to keep the smoke and mozzies away from her next time!

















 
 

Rett 101

So what exactly is Rett syndrome?

Firstly the science: it's a postnatal neurological disorder that's almost always seen just in girls. It's caused by changes on the X chromosome on a gene called MECP2. This gene seems to be essential in the functioning of nerve cells and is involved in turning on and off several other genes. It's a protein that is found in all cells in the body and brain but is found in high concentrations in neurons and is responsible also for maturation of the central nervous system (CNS). Each person with Rett syndrome has a different MECP2 change or mutation (don't much like that word) and the severity is skewed according to how many X chromosomes are affected throughout the body. Each cell contains 23 pairs of chromosomes. Each cell x 23. So in your body that's about a few hundred trillion!

Your CNS (brain & spinal cord) is responsible for an amazing array of things some of which are regulating blood pressure, breathing, movement, reflexes, balance, immune function and sensory signaling.
Huge.

So what this means for a person with Rett syndrome? Symptoms may include:
-  loss of speech
-  loss of motor control
-  scoliosis and fragile bones
-  seizure inducing Rett episodes
-  compulsive hand movements
-  irregular breathing
-  Apraxia or Dyspraxia (the more you try to do something the harder it becomes)
- extreme anxiety
-  gastrointestinal issues
-  impaired circulatory and cardiac function
-  Parkinsonian tremors

In Eva's case she has some but not all of these symptoms. It doesn't mean she's missed out just that they might not have happened to her yet. There is still so much that is unknown that for the most part when weird things happen (like the time she got a fever all down one side of her body but not the other and then it swapped over a few hours later) we say 'must be just a Rett thing'.

But if it is able to be cured it could hold the key to unlocking a whole load of other neurological conditions such as Alzheimer's, Autism and Parkinsons.

We live in hope.


Wednesday, September 30, 2015

The journey. Or the road. Or just some long stretch of path...

It's been an interesting few years... I've blogged a lot lot less, spent a lot more time living with Eva, living with Rett syndrome and less time googling it.  Each year I look back and see what has changed.  Over time I seem to have managed to reduce the number of appointments Eva has with doctors but be no worse off.  I've finally started figuring out a daily routine that works for us.  Each year I find a new natural way of doing something that used to be done with medicine or force.  Things are getting easier which may not always be the way but it's the current state.  I personally find anger a little less frequently, grief even less frequently and my strength and resilience increase.  Each year I get a little closer to feeling ready to step up towards a fundraising role, an awareness role for Rett syndrome and for Eva.  My views about Rett syndrome change too.   I feel more passionately than ever that parents need to be assisted to find what their daughter needs as an individual rather than the 'all Rett girls...' that so often prevails.

I have developed a yoga and meditation practice that keeps my body and mind as fit as possible for carrying my heavy girl and the heavy emotions that sometimes accompany.  And I've gone down a new career path of yoga and natural health and changed habits and mindsets along the way.

And Eva.. she's blossoming.  She's horse-riding, she's making friends, she's trying new things, new food, new books and tv shows and new ways to communicate.  She has a fascination for the Dalai Lama that hasn't waned in 2 years and she keenly watches documentaries about him, making comments every now and then that only she can understand.  She still finds it hard to share, she still gets cranky and ignores us sometimes and she still daydreams watching trees blowing in the breeze.  She gets tired and upset when she can't communicate with her friends. 
Her body is getting heavier from sitting in her wheelchair, her legs and her spine are becoming slowly curved and uncomfortable, her speech hasn't changed.  At all. she still goes cross-eyed and she sometimes still gets Rett shakes that tense all her muscles up and make her jerk about. She still chokes on watery liquid sometimes, still can't eat potato chips or hold my hand as we roll in to school. She still has Rett syndrome.  She'll always have Rett syndrome.  But she's still just an 8 year old kid with 8 year old kid needs.  I'm so damn proud of her for just being her. 

It's Rett syndrome awareness month in October and I'm going to try and write a bit more about what its like to live with Eva, to live and love a child with Rett syndrome.  To be real and honest about the highs and the lows and to be on this path that just stretches out in front... a journey with no end.

Friday, August 21, 2015

Reflecting

This time 8 years ago...

It's that time of the year again.  I tell Eva stories about her birth and her first few days of life and she promptly falls asleep.   It's like our very own comedy routine.  I get mushy, she yawns and falls asleep.

I have had a teary few days.  I can't disregard that it's partly hormonal (I love that I even know that - that's what happens when you 'go natural') but it's also partly because she's been glum the last few days.  Her friend at school has the same birthdate as her and invited all her friends to her birthday but not Eva.  Hard knocks.  She explained that her mum said she couldn't invite Eva because of her allergies.  Yep, in 2015 allergies are still worthy of fear.  Eva is harbouring some disappointment over it all, as am I,  but on the other hand these are the blessings of going to a mainstream school.  She's going to have situations like this again I'm sure.  We've had a few talks about it and I think she's feeling better.  Then this afternoon one of her posse, A, asked me when Eva was having a party (she decided against the disco party she wanted after finding out all her friends were going to the other girls' party) and I said I didn't think she would.  He said "hmm ok. I think I'll go buy Eva a present tomorrow and give it to her on Monday."  He's such a lovely boy and has been such a great friend to Eva.  That alone is worthy of feeling #blessed.

Finding presents for Eva does get harder every year.  What do you buy someone who can't use their hands and can't physically move things.  It's tricky.  This year I found her a pair of ridiculously sparkly shoes, a dress and a book of inspiring quotes.  I also found a few craft things that she can do with a lot of assistance. Making buttons and making little embroidered necklaces  She has requested to go shopping for her present with us so we will see what happens then!

The other thing she requested (and when I say request I mean we give Eva options on a whiteboard and she chooses) was that I tidy her room for her.  The apple fell far from the tree there - it's not my natural state!  So today I tidied her room and the look on her face when she saw it was just beautiful - so happy! It's easy to forget that she has desires and needs that might be very different from what we expect.  I love discovering who she is and what she likes - it takes such a long time and so much patience to get to it but it's so worth it.




Tuesday, June 2, 2015

Dental rant

I just have to say that there are times I think someone somewhere is having a big fat laugh at how much people with disabilities (and their families) will put up with.  A few months back Eva had a dental check-up and it was recommended that she see a Paediatric dentist as our family dentist felt unsure about how to best deal with doing a filling that she needed.  So I innocently went along to this new guy and filled in all the forms and sat with Eva, ready for her to have a thorough check up and to find out what would happen for her to get a filling.  For a small fortune he gave a cursory look in her mouth (really quite cursory and noticed only one of two fillings that needed to be done), barely spoke to her at all and proceeded to inform me of the need for her to have a crown done while under a general anaesthetic in a hospital.  Now I'm not a big fan of any of the things he mentioned - GA's, hospitals, dentistry and hang on a minute -a crown??!!  On a baby tooth that just needs a filling?  His response to my queries were so calculated to tug on any residual motherly guilt - how could I deny my child a safe and sturdy crown when a filling could so easily crack or lead to further complications and a need for further dentistry under another general anaesthetic.  Better to be super safe than super sorry.  He shone his perfect white teeth at me as he suggested what he believed was in Eva's best interest.
And then I got taken to another room and shown the quote.
$2500.00 AUD minimum.
What the heck?  Eva doesn't gag, isn't tube fed, can breathe normally, doesn't have seizures and is on no medications other than anti-reflux and yet she can't get a flipping filling for under $2500?
So I walked out of that place and didn't go back.  But I have spent time and more money on getting second opinions and it seems that unless I find a dentist willing to risk their insurance then I will need to either wait for her to get a public appointment or cough up the money.
Really not funny.



Friday, March 13, 2015

Bad attitude, Bad sleep, Bad breath

What a combo.

These are all the things that eventually added up to me realising Eva was having a bout of reflux.  Amazing how something that seems like it would be so obvious was so hard to figure out.  Those first few weeks of school she must have been truly suffering - not just with nerves but the acid too.  Poor kid.

Within 2 days of starting Losec Omeprazole Eva was sleeping better, eating better, drooling less, had normal smelling breath, was staying awake in class more and was HAPPY.

And boy did that make me happy too.

Sunday, February 1, 2015

the edge

There's this phrase in yoga about 'coming to your edge'.  You come to a point where you can feel the stretch, maybe even feel a bit of a burn but it's not causing you any pain and you can make the decision to go further or back off depending on how you're feeling.  Anyway, I came to my edge this week and possibly pulled a muscle. Figuratively.
Eva started a new school, a new year (Grade 2) and I was with her every day in the first week helping her aides get to know her and to help out if anything needed sorting.  The first day was probably as scary for me as it was for Eva.  I felt like a kid again - wondering if the kids in her class would like her, wondering if she'd make friends, be ok at lunchtime, hoping she would look up, smile and participate. It was excruciating.  I'm so glad I'm not a kid anymore!

The first two days of school were so so hard.  I found myself getting frustrated with Eva for flopping forward, disengaging, ignoring and just not participating in any way.  She has been so amazingly engaged and upright all summer that I just couldn't believe what I was seeing! I assumed it was shyness or problems with her wheelchair straps.  Then we'd get home from school and she'd sit up straight in her chair at home and chat away to me using eye gaze and verbal responses.  I was stumped to begin with. At the start of her second day I said to her that if she tried really hard we would have some chocolate cake for afternoon tea.  But her second day was a disaster - she looked at anywhere except at her whiteboard, she refused to answer questions, she flopped in her chair and ignored the girls in her class who were trying to befriend her.  My patience was worn thin at the end of the day - I was thoroughly sick of asking her to sit up, asking her to please listen and answer a question and asking her to please look at the person who was talking to her.  I felt like shipping her off to a boarding school I was so annoyed! So when we got home I asked her "do you think you tried hard at school toady?" and she looked at "no".  I said "So do you think you deserve some chocolate cake?" And Eva looked at "no" on her whiteboard, then she smiled this smug smile at me and looked at "maybe".  I could have throttled her!  I am not just dealing with a child with Rett syndrome, I am dealing with an annoying typical 7 year old!

All this time I've been giving her the benefit of the doubt; assuming she was tired/in pain/ shy/ overwhelmed/ scared/ frustrated etc when really she's just been playing me like a well-worn fiddle. So that was when I realised that the girl I saw through the lens of Rett syndrome was also a typical kid who would do anything to not have to be at school and work hard.
And so I became the parent I guess I might have always been - I ranted at her. I told her that she was being lazy and that she was lucky to have such a lovely school to go to.  I told her that if she didn't try harder that the school might write and tell me she doesn't belong there and that would be her fault for not trying.  I was relentless and probably a little bit over the top.  But she listened.  And on Thursday she was nothing short of amazing - sat upright, smiled, was attentive and engaged, friendly and listened during class.  I was so impressed. And really happy that she was giving her new friends a chance and showing the new school who she really was.  I was also giving myself a bit of a pat on the back for figuring it all out.
But that was premature because on Friday she fell back into being floppy and disengaged.
I don't know whether I should put on my typical 7 year old hat or my Rett hat. Was Eva tired after the mammoth effort she'd put in on Thursday and was basically mitochondrially deficient (is that a real thing?) or was she being lazy again?  I have no idea.

And that there is the conundrum of having a typical yet totally un-typical child.  I can't get answers easily, I have to intuit a lot of what is going on and I have to be aware that every effort she makes is potentially very hard for her.
In a way I'm really glad she's brought me to a new edge: to understanding what it's like to be the parent of a regular 7 year old. On the other hand it's just a whole lot of new hard work and if I don't pull some kind of patience muscle by the end of the week I'll be surprised.