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.