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.


Friday, September 27, 2013

Uniquely Eva

A couple of weeks ago Eva was asked to come to a party in her favourite dress-ups.  After some time of me holding up a variety of outfits this was chosen (top to bottom) by Eva.  I particularly loved her Cinderella "slippers".  Perfect for a quick getaway from potential princes.



Then Cinderella had a vegan chocolate cupcake (I absolutely LOVE it when she can eat at least one awesome party food!) and was clearly pretty proud of herself for demolishing it in such ladylike style.




And here's the link for the vegan chocolate cake.  It really is as easy as it looks and tastes brilliant.  We used ghee instead of oil or butter in both the cake and the icing:  www.instructables.com/id/The-BEST-chococlate-cake-ever...that-happens-to-be/

Tuesday, September 24, 2013

Almond meal cakes and other things

I've neglected this blog and I'm now feeling pretty rusty at writing...  A few days after my almond milk post we had to take Eva to hospital with asthma that then turned rapidly and dramatically into pneumonia.  She stayed in hospital for a week then had another week at home and next thing I know it's the end of school term and I've not written a thing for 2 months.  

So, if you have any almond meal still in your fridge from then - aaaagggghhhhhh!!!! Get rid of it immediately!

Here however is a lovely cake recipe for the wet almond meal leftover next time you make almond milk.  I've adapted it to Eva's tastes and there are a few variations at the bottom that we used as school morning tea cakes.


Lemon Almond Meal Cake
egg free, can be dairy free, can be gluten free.

2 tablespoons lemon juice + soy milk = 1 cup milk
1/2 - 1 cup wet almond meal
1 1/4 cup spelt flour (or whatever flour you like but NOT coconut flour)
1 tsp baking powder
3/4 tsp bicarb soda
1/4 tsp salt
1 cup sugar (brown or white - whatever you like/have)
1 tsp vanilla extract
1/3 cup oil (grapeseed, olive, almond, coconut or mix of all three OR ghee)
3 tbsp lemon zest

Prepare the milk and lemon juice and set aside to thicken.  Put all the dry ingredients together in a bowl - almond meal, flour, baking powder and soda, salt, sugar - and mix through.  Wet almond meal won't mix well but that's ok.  
Add all the rest of the ingredients - lemon zest, vanilla, oil/ghee, milk and stir thoroughly to make sure the flour and almond meal is mixed in.

Pour into a tin lined with baking paper and bake at 180 degrees celsius for between 30-60.  Now I'm no pro recipe-tester so I can't give you a definite time but check it every 5 minutes from 30 mins on - quickly and with a skewer.  If the skewer is clean when it comes out then cook it an extra 5 minutes and let rest in the tin for ten minutes before cooling completely.

Extra almond meal makes the cake more damp and takes longer to cook.  Adding fruit makes it take a bit longer to cook too.  I've had one spectacular fail with this recipe (I did it without the recipe and forgot sugar and cooked it way less than it should have) but the rest have been awesome.  They aren't big fluffy cakes but they're yummy, they're wholesome and  what counts the most is that my little girl can eat them and loves them!


Options:

Ditch the lemon zest, reduce the sugar to 1/2 cup and add a handful of chopped strawberries, a handful of desiccated coconut and a mashed ripe banana.  Great for school morning teas. 

Or ditch the lemon zest and add 1/3 cup cacao and 1/3 cup desiccated coconut.  Ice it with chocolate coconut icing. (1 cup Icing sugar, 2 tbsp cacao, 2 tbsp desiccated coconut, 1 tsp vanilla essence, 1 tbsp coconut oil, teensy amount hot water to mix it all in).

Or ditch the lemon zest, use dark brown sugar only and add 2 tsp ground cinnamon, 1 tsp ground cardamon, 1/2 tsp ground cloves, 1/2 tsp ground ginger.







see the bit of white? that's some almond meal i didn't mix in properly. tasted fine!








Thursday, July 18, 2013

How to make Homemade Almond Milk - a step-by-step guide

Homemade almond milk: one of the easiest things I put off doing for years.  And I'll never buy it again.  It's a 15 minute process, a bit messy until you get used to how to do it, but simple, cheap and has a gratifying level of i-made-it-myself smugness.

My next post will have some recipes for cakes that use the leftover almond meal.  So don't throw it away!


1. Buy your almonds in bulk to save time and money.  Store them in a sealed jar to keep moths out.  Buy organic almonds if you can because lets face it, our girls have enough going on internally without asking their liver to process loads of chemicals as well.  If you can't buy organic then at least buy pesticide-free almonds.

2. Soak em!  Overnight (minimum 3 hours max 12 hours in a cool dark place) and covered with water.  Filter water is best, tap is fine but do not use hot water as you don't want the skins coming off.



3. Drain and rinse.


4. Pop them in a blender and cover with at least twice as much water.  Filtered water is best.


5. WHIZZZZZZZZZZ !!  I do mine on the ice level for about 2 minutes with a few stops between to let the almonds settle before re-whizzing.



6.  Pour the mix through a fine sieve into a jug or bowl (since taking these shots I've found a large bowl to be easiest and less messy)




7.  Press down on the almond mixture to get all the juice out.


8. Put the leftover bits of almond back in the blender and cover with water for a second whizz.



9.  Pour through the sieve again and when squeezed through put all the remainders aside in a bowl and then in the fridge.  This can be used in cakes, muffins or any recipe that calls for almond meal but has to be used within about 2 days.  It looks like this...


10.  Now get some cheesecloth and place it over the mouth of the container you'll store your almond milk in. Hold it in place with a rubber band. Mason jars or an old Passata bottle work well, just make sure it is thoroughly clean and dry. 



11.  Pour the milk through the cheesecloth....

 

you may have to help it through with a spoon...



Squeeze the last liquid out of the cheesecloth like you're milking a cow then store it in the fridge.  Add the bits of almond meal left inside the cheesecloth to your bowl in the fridge.



12. It should last about 3 days but you can check it by tasting it.  It starts to smell and taste sour when it's turning.  Enjoy!  



follow up

The last post seemed to make my family wonder if I was ok. I am in fact not only ok but very fine and really quite happy. I may not have a glass overflowing with freshly squeezed sunshine but I am definitely a glass half full! 
Maybe it's been such a long time between posts that my writing was a bit off kilter or something...  anyway the "happiness project" I've started after reading Gretchen Rubin's book of the same name (ok I've only read 2 chapters but it has started me off...) is just to make a few tweaks to my life to help me remain a glass half full, help me get my career back on track and maybe clean up a few unruly piles of crud in the process.

Tuesday, July 9, 2013

Trying, failing.

There are days that Rett syndrome doesn't bother me much.  It's there of course, lurking around, being the reason that Eva can't put on her own shoes or dress herself for school.  The same reason she can't play by herself while I do the cooking/washing/working/insert-whatever-I-do-alone here. But you know it's just part of daily life now.  Then there are days that it's just such a big fat PAIN. Every time I feel on top of it, something new happens. Scoliosis worsens or her shakes get worse or she's holding her breath.  There's a Rett syndrome handbook (brilliant, but big enough to concuss you) by Kathy Hunter that tells you most things you might need to know but of course there's constantly new research, new drugs, new possibilities of what might be causing new issues that I feel I have to, need to, read.  I often feel overwhelmed by what I don't yet know and wish I did.  I search the internet then wish I'd not.
And then there's the managing part of having a child with Rett syndrome, or for that matter any syndrome or disability.  Managing appointments, managing meetings about school or services... managing to look like I'm keeping it all together.
I'm pretty sure I keep it together most of the time.  But after a very revealing discussion with Eva's dad I realise that my sunny outlook on life has slowly been clouded over the years.  It's not surprising of course.  But I don't like it.  And now that I realise it, I want to do something about it.  Unlike Rett syndrome it is something I can fix all on my own.

Friday, June 7, 2013

irked

Today I got a phone call from the Guidance Officer at Eva's school.  She explained to me that she looks after the children with disabilities and also any funding for kids with additional needs.  I naturally assumed she'd want to discuss Eva's teacher aide hours and get me to fill in some forms for securing funding.  But no.  She told me that she'd spoken to Eva's class teacher and Eva's Special Ed teacher about Eva. Hmmm ... My internal radar pricked up. She then asked me where Eva would be going to school next year.  Huh?! Eva is actually currently enrolled at the school and in my mind of course would be staying there.
I think any parent who heard that their child's teacher had been spoken to and was now being asked where they were planning to go to school the following year would surely be immediately concerned that their child had done something wrong or was in great trouble and not so subtly being asked to leave.
I responded that Eva was currently enrolled and happy at the school she was at. Her reply was that Eva's high needs meant that I may like to consider a Special School for her and was that something she could help with.  My reply, too lengthy to include here gave her the answer she needed.  A definite no. But the damage of subtle discrimination is done. I have become so used to this over the last few years that these kind of insults just make me a bit cranky. But what about other parents for whom this is a new kind of experience and get sidelined by these kinds of comments.  I know I can't make everything ok for everybody but it irks me so much that parents who work so hard to get their child into a mainstream school have to constantly be reminded that theirs is not a position of surety.
The Guidance Officer could have just as easily rung and said "I'm finalising enrolments for next year and wondering whether Eva will be attending Grade One?"
Simple. Effective.
 

Thursday, May 23, 2013

Losing the Trifecta

I feel very lucky to be able to call my doctor-sister to ask her to come over and check on Eva when she's sick. She's been living overseas for the last 3 1/2 years and we had survived without having her around but what a relief now to have her so close.  Being a Paediatric Emergency Specialist, she is used to serious life-threatening cases and I sometimes feel like I shouldn't worry her with trivial things like a cold/cough that's made Eva start breathing faster than usual.  But this morning I'm so glad I did.  Eva was struggling to breathe and it turns out she has suddenly developed asthma.  Considering the family history of allergies and asthma on one side and eczema on the other and considering she's already had eczema (severe for about a year) and has anaphylactic reactions to about 4 allergens it was, as my sister said, "some bizarre stroke of luck that she didn't already have asthma." Well I guess that luck ran out and the revolting trifecta is now complete.
What was most disconcerting was to hear her say I should have taken Eva to the hospital well before she got there.  I had asthma as a child and I remember the horrible feeling of not being able to breathe properly; feeling like I was breathing through a narrow straw.  Courtesy of my sis I now have a "Wheeze Action Plan" that I can add to my "Anaphylaxis plan" and my mental list of "What is Rett syndrome stuff and what is just being a kid".  I'm also now acutely aware of when I need to go straight to the hospital.
Naturally (being me) I spent a good part of the day feeling guilty that I hadn't done something sooner then a good part of the day feeling guilty that I was thinking to myself 'Oh just great, here's one more thing to add to the list of her pills and potions and one more anxiety I have about her.' Can't win.
Eva however is significantly improved and by this afternoon was sitting up in bed watching Sesame Street with just a wheezy little giggle now and then.

Monday, May 13, 2013

A milestone

 Eva lost her first tooth last week and it was finally a milestone she could share with everyone else.  She grinned happily for the camera which is something that doesn't happen too often.  The tooth is missing but the tooth fairy still came and so Eva's grinning continues as she shows family and friends her missing tooth and answers the obligatory questions about whether the tooth fairy came and how much she left etc.  Having had so few 'normal' milestones to share over the years I think we are both finding it sweet.






Wednesday, May 8, 2013

"I don't know why it works, it just does"

This is what an American doctor says about healing a rotator cuff injury with yoga.  I've been listening to his podcast about the benefits of yoga for healing because I'm yet again in pain.  It seems to be an all too common problem at the moment in our family.  First it was my knee, then Roger's shoulder, then my back, then his shoulder and now my shoulder and his knee!  It sounds like we are frail and yet the opposite is true.  We both exercise, stretch, do weights, meditate when we can and eat as healthily as possible most of the time. But lifting, moving, adjusting, turning and hauling a 17kg child on a daily basis will do that to you. And Eva is such a solid weight with little muscle strength to help us with transitions. "Stop flopping Eva!" is a useless phrase on high-rotation in our household.

So after spending time and money seeing a physio for this and finding that my shoulder was still so sore I did some research online and found Dr Loren Fishman's answer to a rotator cuff injury. And it's to do a headstand!  Being no stranger to yoga I'm intrigued and I'm going to try it, so I'll update this down the track and hopefully be able to say "I don't know why it works, it just does."

Here are the articles for anyone either interested or sceptical or sore!

http://www.newswise.com/articles/view/576365/?sc=dwhn

http://journals.lww.com/topicsingeriatricrehabilitation/Abstract/2011/04000/Yoga_Based_Maneuver_Effectively_Treats_Rotator.10.aspx

And there is a podcast of the interview with Dr Fishman on this link:
http://www.peoplespharmacy.com/2012/11/26/yoga-headstand-soothes-shoulder-pain/

Sunday, May 5, 2013

Inadvertent therapy - Pesto

Last weekend we were given a huge bunch of basil and decided to make pesto.  Eva was in a great mood, seemed keen to help and as we were doing the hand-over-hand task of pulling all the leaves off I realised what a great therapy tool it was.  Not only were we doing something useful but it smelled wonderful and was going to be tasty at the end.  Eva helped pull the leaves off, drop them in a colander then held the stick blender and pressed the button to blend it. And she enjoyed it!



I'm almost 5 years into doing therapy with Eva and I have to say I find it pretty boring for the most part.   It feels like a job.  I mean really, if you had extreme difficulty holding anything would you enjoy doing a therapy task that involves picking up coloured balls and dropping them in a box?  No wonder I spent the early years of Eva's life feeling simultaneously frustrated that the tasks were so boringly difficult and then guilty when I made her do them.

Cooking however seems like a brilliant way to incorporate sensory therapy, occupational therapy, fine motor skills, science (changing one thing into another through cooking it) and a healthy dose of fun that ends in a meal.  And since I actually enjoy cooking as well it seems to me the best way to ensure therapy gets done without it feeling like therapy. For both of us.

So here is Eva's dairy-free pesto recipe.  As you can see she was pretty happy with the result.

Double quantities as per basil available... add fresh kale too for a zesty kick!


1 cup basil leaves (firmly pressed in)
1/2 cup olive oil
30-40 grams lightly toasted pine nuts
2 small cloves fresh garlic
salt

Add all ingredients to a blender or use a stick blender to make a fine paste. Enjoy on everything!







Sunday, April 21, 2013

The look of love

There are times that we get the most incredible eye contact with Eva. We relish it and even occasionally catch it on camera. On our recent holiday together we both got it on the same day. Bonus!





Eva and her Dad have a very special relationship with plenty of giggles, some sharing of Australian football (AFL) and a whole load of love! 

The big discovery

Ever since she was a baby Eva has been allergic to fish.  We first found out when we gave her a small piece for lunch when she was about 8 months old and she immediately came out in a rash and was very upset.  Later she had both a blood test and a skin prick test and the results were unusual but clear - she had a huge allergy to salmon, no allergy to tuna and a medium allergy to white fish. So we've steered clear of fish and seafood ever since.
Our naturopath however has been asking us to try Eva on some fish for the last few years and we've been incredibly reluctant.  He suggested that her allergy to salmon may have been tested using salmon from farmed fish that has been given all kinds of foods and dyes that she's reacting to, not the actual fish.  But anaphylaxis isn't something we really want to test.  At least not unless we're parked out the front of the Emergency Ward at the hospital with a nurse and epi-pen on hand.
But lately Eva's been having some health issues that her naturopath thinks can be entirely overcome with a healthy dose of fish oil.  So we took home a bottle of it, flavoured orange and coming from mackerel and sardine and promptly left it in the back of the fridge.  The last fortnight though Eva's symptoms got worse and we rang the naturopath who told us that the fish oil could help her but only if she was actually ingesting it.  Clearly keeping it in the fridge on stand-by isn't effective!
So I started with a  small drop on Eva's back and she had no reaction.  The next day I put a drop on her cheek and she had no reaction.  The day after that I put a tiny smear on her lip.  No reaction.  Then we put a tiny smear in her food.  And again, no reaction.  At this point we should have given her about a 1/16th of a teaspoon in her lunch so we could observe her throughout the afternoon.  But somehow the wires between Eva's dad and I got crossed and Eva had a 1/4 teaspoon in her dinner then went promptly to bed.  I was a nervous wreck.  But it turned out beautifully.  She's now able to tolerate a full 1/2 teaspoon and other than a small pimply rash on her cheek she's been absolutely fine.  And her symptoms have reduced significantly.  It's really, quite honestly, nothing short of amazing.

Monday, April 1, 2013

It's been a while


 It's been a long while between blog posts... and yet I have had so much to say.  Sometimes I just can't seem to get the words that are swirling around my head out and into the computer.  Trying to do it whilst having Eva in her first year at school, a mainstream school, has been too hard hence the break.  So I'll get back into it slowly...
It's been a pretty good first term at school.  Very busy, frightening at times, surprising a lot of the time and we feel very strongly she's in the right place. The school has been a glorious anomaly in that when they use the word inclusion they actually mean inclusion. This word, along with 'diversity'  is used far too liberally by schools and institutions that really have no idea.  It's been great to see a place walking the talk!
Life at home has been revolving around surviving school (lots of coffee and plenty of pow-wows) but also what to get up to on these Easter holidays.  We've had appointments with new service providers, had appointments with the usual therapists and doctors, been to an amazing workshop on Inclusion in Education and a not-so-amazing trip to the Emergency Room of the hospital when Eva's head cold turned into a struggle to breathe and suspected pneumonia.  It wasn't, luckily, and Eva was back at school within a few days and being swamped by her gang of friends.  This was followed by the Easter bonnet parade last week. Hat below!




Thursday, February 28, 2013

Chatty

There have been stages in Eva's life that she's been extremely chatty.  I don't mean using words or making any sense to me, but that she makes noises that have the intonation of normal conversation and she looks at me as though I should be understanding what she's saying.  Clearly in her mind she's trying her best to chat.  
When she was a baby this chattiness was most prevalent at night.  We'd hear her at around 2am most mornings happily talking away to herself in the dark.  When I mentioned this to her doctor she suggested that the dark and quiet environment lent itself to Eva being able to concentrate on making sounds.  But over the recent summer holidays Eva seemed to become a bit quieter.  Or was it me?  I find it hard keeping up a stream of chat with Eva when she doesn't talk back and it's easy to fall into being very much in my brain - replying to emails, pre-empting discussions or just mindless list-making of things to do.  I'm sure she gets bored by me and I sometimes fail to notice that I'm not talking out loud.  But starting school has pulled Eva into a world of non-stop chatter from her peers and it's clearly doing her the world of good.  The other day as I was asking about school I mentioned a particular little boy I'd seen talking to her.  It set her off on probably the longest chat I've ever heard in daylight!  I can't possibly imagine what she was telling me but it clearly entertained her. As does he!

Thursday, February 21, 2013

Warms the cockles

This morning when I brought Eva into class there was a cacophony of little voices saying "Eva!" "Eva's here!" and about 5 girls ran up and helped me walk her over to her chair on the floor ready for the morning class.  They almost trampled each other trying to sit next to her and were holding Eva's hands, helping her glasses stay on and generally fussing over her. She had the loveliest smile on her face but I'm sure I had an even bigger one.  
It's so heart-warming to see her loved  and cared-for by her classmates. It was such a fear of mine, when I first enrolled her in a mainstream kindy and school, that she would get teased or stared at or just not have any friends.  The absolute opposite is true.
And we seem to be making progress with Eva's special-ed teacher and have a meeting scheduled for this afternoon to talk about everything.
Happy.

Sunday, February 17, 2013

nits, notes and no-shows.

School has been... well...interesting thus far.
I truly felt like the mum of a regular little school-kid last week when I discovered nits in Eva's hair for the first time. And I freaked.  I had to ring my sister and text friends for tips on how to get rid of them since she's never had them before and I had no idea what to do.  An afternoon with my sis, a bottle of Hedrin and an hour (at least) of combing later and we have completed stage one of what I now realise will be a long and highly-repeatable road!
The actual school stuff though - going, learning and being - is a LOT harder.  I wish I could fix that with a fine-tooth comb.  Eva is in a mainstream school that has a special education unit in it.  It means that there are trained special-ed teachers around to offer advice and assistance to class teachers on how to adapt curriculum etc but also a space for Eva to go to for physio or speech therapy or a place to just chill-out if she needs. But it's a pretty dowdy space.  It looks like it's not had much love or energy for a long time and the teachers seem to be perpetually running from one end of school to the other to assist students.  Clearly they are understaffed but perhaps the lack of cohesion in their workroom is leading to chaos elsewhere. Who knows.
For our little part of the school, Eva has one special-ed teacher who goes between the four Prep classes to assist the students with disabilities that range from mild speech delay to autism to cerebral palsy. She's new and youngish and when she suggested I come in for a half day so she could observe me with Eva and ask questions I was pretty impressed. However in my first hour in there she sat and helped another child, stared into space, ran through the next months worth of curriculum to a boy who clearly needed help just writing an 'a' then ran off to another classroom.  I was about to lose all hope until a new teacher arrived who sat me down and asked me all the questions I assumed the special-ed teacher would have. It was great to hear her ask the kinds of questions that will help them work with Eva and understand her physical limitations and also her ability to learn. Except that I then found out she is a volunteer and will only work one day a week with Eva.
Waste of my time?  Maybe... the information I shared will get passed on but it's the special-ed teacher who needs to hear it and understand it.
So I decided to arrange an appointment with her and Eva's class teacher so we could all be on the same page. It was the morning after the nit-showdown and we were in a frenzy to get out of the door in time for the meeting scheduled at 8.15am.  On our way there we found out that the she had called in sick just 5 minutes prior. Eva's class teacher met with us alone and we don't have much to fault with her. She is adept at including Eva and using the yes/no card, she treats Eva like all the other kids while making concessions for her inability to raise her hand or talk. But she naturally does need help from the special-ed teacher with the intricacies of using the communication book we made for Eva and adapting questions and curriculum to suit Eva's communication abilities. 
I've also tried to instigate a diary that goes back and forth between school (the spcial-ed teacher) and home with just three points per day on what has been done in class. This is so I can ask Eva about what she's done during the day without having to ask a million questions before I hit on what's actually been done. I don't have the option of asking 'what have you done today darling' and getting an answer. And sure, most kids probably say "nothing" even when they can talk, but still...  At first, notes were left on Eva's health and happiness throughout the day which although lovely wasn't the point of the diary. When I asked again for some notes on the day I was met with some resistance as 'there wouldn't be time to do that every day'. When I pursued it as just a couple of easy dot-point notes I instead got paragraphs that were written over the following few days spaces. Again, not what I asked for. I've been so clear and direct I'm wondering where I've gone wrong!
I've been trying to be objective and understanding about how the special-ed teacher might be coping at a new school with 8 kids under her wing and a busy schedule. I've been restrained in my conversations with her and with the school because I don't want to be a nuisance parent. But we are about to head into week four and she still knows so little about Eva.  It's not so much that Eva is missing out on learning but more that a major aspect of school - interaction with her peers - is being severely stifled by lack of interest in how she communicates.  
* postscript - we've since met with Eva's special-ed teacher and we had a thorough conversation about Eva and about how Rett affects her as well.  And it seems as though she's been doing her own research which is actually really lovely to see.  It's such a rare syndrome and it's great to know she's willing to learn about it.  There's a long road ahead for all of us and it's making me feel much calmer now that she's on the same page as us. Maybe she always was and it was just me feeling overwhelmed by school...  That of course is always a possibility but regardless if it benefits Eva then it's win win.

Sunday, February 10, 2013

Diagnosis day

Today we spent a fabulous day swimming, surfing, sunning, eating and drinking with friends as a pre-birthday treat and I couldn't have felt more relaxed.  This evening as we were driving home tired and a little bit sunburnt I was looking out the window of the car and saw the inky sky dotted with stars to my left and a smoky turquoise to my right where the sun had set.  The road ahead was fringed with dark trees and intermittent car lights and my mind started to drift.  All of a sudden it hit me.  Today is the tenth of February.  Today is the third anniversary of diagnosis day. I'm amazed that I've already gotten to the point of forgetting it.  Kind of.
This time 3 years ago I was in the middle of a lush morning on my own (another pre-birthday treat) and had just sat down to a coffee and lamington (an Australian sponge cake covered in a thin chocolate sauce and coconut) when my phone rang.  It was the geneticist. She got straight to the point that Eva's blood test (6 months prior) showed that she definitely had Rett syndrome.  We started having an intense conversation about genes and codes and the meaning of it all while the gallery I was in buzzed around me and I just had to get out.  I remember running outside leaving everything behind me and standing in a garden, sheltering from a burning morning sun with tears streaming down my face as I talked to the Geneticist about what we had feared for some time.  The rest of the day was a daze. I picked up Eva's dad from work and drove to a quiet street to tell him.  He couldn't face going back to work. I remember we cried a bit and talked a lot. We felt some mild relief at knowing that there was finally a reason and a name for what was happening to Eva. And there was an awful lot of fear that started welling up too. I remember thinking that I ought to be crying and wailing more but was far too dazed to do so.  I remember feeling like I wanted to hold on to this day and not tell anyone about it, as though doing so would make it far too real and shatter all their hopes as well as mine.
The last three years have been, to say the least, an education of significant proportions.  And diagnosis-day marks a specific time when the hopes I'd had for Eva to suddenly and miraculously find her way back into normal childhood ceased forever.
I like that the significance of the day is losing it's hold over me though.  I like that I have thought about this day coming but completely forgot about it for most of today.  I like that Eva, when I turned and looked at her asleep in the back of the car tonight is just, quite simply, Eva to us.

Thursday, January 31, 2013

My big girl

Eva started school this week and it was a most exciting and frightening event!  We were definitely far more nervous than she was and she grinned the whole way in to class on the first day.  It felt so strange to be told to leave and to not have a long meeting with someone about how she does things and why and what etc etc.  I was amazed at how easy it all seemed to be.  But of course after the first-day high we are having a few teething problems ...  things like Eva not getting enough staff time - quite seriously she is getting 2.3 hours per week of one-on-one aide time. Yes I wrote week. It's seems so cruel to have a child with special needs barely getting enough assistance to have food, water and go to the toilet. And there is no time left after that to help her with school work.  And yet that is the state of things in Australia.  Eva has come home these first few days with barely any food eaten and a full-ish water bottle.  She's been ravenous and tired after school every day.  Yes, she's learning new things (I think!) but I feel somewhat underwhelmed.  
I've been so strongly advocating for Eva to be in a mainstream school and to receive a proper education yet one of the first things she was asked to do this week was choose the colour blue between a choice of green and blue. Then yellow between yellow and brown.  I felt affronted on Eva's behalf!
I know they need to know where she is at but I feel that assuming competence is the best approach.  We have a meeting next week but there's so much to tell them about I hardly know where to start...  

Monday, January 14, 2013

If I could change just one thing...

As I was helping Eva eat her lunch today I mused if Rett syndrome could be reversed in just one small way what would be the best thing for Eva.  Would it be to talk again or get her leg strength back to walk. Would it be to not get gut pain or tremors or breathing difficulties?  I'm not sure what she would choose but me, I would get her hands back. For her to be able to use them would give her so, so much. She'd be able to propel a wheelchair and be independent, she'd be able to type out a sentence, turn the pages of a book, wave hello or help, or goodbye, sign to me or others, eat and drink by herself, open a door, a cupboard or a toybox, turn the pages of a book, type an instruction or search for a tv show, play with toys and finally change Barbie's dresses all by herself.  It is ridiculous how much pleasure I got out of thinking about all the wonderful things she COULD do if she could just use her hands again...

The latest Rett drug trial of drug "NNZ-2566" by Neuren Pharmaceuticals is showing amazing new growth of dendrites in the brains of those trialling it.  It may have been originally designed for those with concussion or Traumatic Brain Injury (TBI) and has been researched and funded quite extensively by the US Army for it's soldiers with TBI caused by blast exposure, but the overlap between TBI and Rett syndrome has meant new and exciting potentials for the Rett community worldwide.  NNZ-2566 probably wouldn't restore hand-function but if it could help Eva do just a little bit more of everything then I'd jump at the chance for her to use it.  We are waiting very impatiently. The CEO's presentation to shareholders of Neuren is well worth a read - http://www.neurenpharma.com/ssl/cms/files_cms/NEU%20CEO%20AGM%20Presentation%20May%202012.pdf

In the meantime I've been coming up with some more catchy names for NNZ-2566 - how about RettBackAtYa, BrainGRO, DendTRITON, IGF-1-upmanship...

Monday, January 7, 2013

Rett syndrome in an instant

In an instant the realities of Rett syndrome can come crashing in. Today I read about Rosie who died from complications of Rett syndrome. She was just 14 and the news of her death and that she had Rett syndrome, is all over Britain.  It's not because of Rosie though that suddenly Rett syndrome has catapulted into mainstream news, it's because her sister Coleen Rooney is famous - in her own right as a presenter and product endorser but also as the wife of Manchester United and England football star, Wayne Rooney.

Suddenly there are now people describing their life with Rett syndrome on mainstream Sky news. I heard the words "..epilepsy, autism, cerebral palsy and parkinson's all rolled into one little girl. Add to that breathing difficulties and permanent curvature of the spine and being fed through a tube..." and that's all I need to hear before the tears streamed down my face and I was reminded of how well Eva is today and how unwell she could be tomorrow. I'm reminded of how close we are to a cure yet how far there is to go before it is assured to be safe and beneficial. I'm reminded of how such suffering can occur in one little body and yet how fortunate some of us are to have our daughters born in a safe, prosperous country with medical assistance that supports people with disabilities. 

I was going to start my new year's blog post about how excited I was to hear of the progress Neuren Parmaceuticals is making with a new drug that will benefit girls with Rett. I was going to share my new year resolution of doing everything I can this year to raise money and support and awareness of Rett syndrome.
Another day..