Charlotte just nourishes my soul
I feel the love, it just exudes from her
Every day she feels sick, she has pain at least at some point in the day
and yet you would never know it to look at her because she is just so grateful to be here
and it's that that keeps me going.
Charlotte - we have so many symptoms, we have so many medical issues
Pretty much everywhere we go, we get stopped, people say you know
what's wrong with her? I have nothing to actually say when they ask that question.
We have no idea as to the nature of the illness
the doctors kind of scratch their heads and say this shouldn't be happening, you know, why has this happened,
what has happened
and you kind of go jury's still out, we don't know.
She's had 60 operations, every one of them is still as frightening
so we had a scan that showed that she was missing the left side of a diaphragm,
she had all of her abdominal organs obviously except the kidneys up in the left side of her chest
her heart was twisted and was on the right chest wall.
Charlotte has coded a number of times
She was on a ventilator and everything was just so medical and so critical
I had to say goodbye to her. Those words, say goodbye to charlotte, say goodbye to her now,
it actually felt like I was saying goodbye forever because I didn't expect her to come out.
What do you say to a baby that you're never gonna see again
that this is the last moment to try and say a lifetime of I love you
and how much that child means to you
that moment is still burned in my memory.
Charlotte's story is shared by tens of thousands of children in Western Australia
that's tens of thousands of unique stories all with one thing in common: not knowing.
No way to have any concept of how long she's going to be in our lives
to have the diagnosis is to have that answer, the riddle that is Charlotte solved.
The secret is to find which of those genetic variations between two people
are completely harmless, in fact they're what define them as different people,
and which of them is actually the gene that's causing the problem.
But now we have the latest techniques, the big data science, the artificial intelligence and
indeed the genome editing techniques that allow us to find that needle in a haystack
and that opens up possibilities like new treatments and potentially even cures.
I've seen what research has done for Charlotte, she went from complete immobility to being able to walk
and sometimes even try to run, which has made an incredible difference to her life.
She never gives up, she always has a smile on her face, Charlotte always is happy
Josh just invests so much of himself in looking after Charlotte
and keeping her and the family going
I would just love answers just to reassure him that he won't have any risk of having this passed on to his children down the track
we're going to do our absolute best to give her a lifetime of experiences in the time that she's with us
I'm exceptionally hopeful this research may be able to give us closure, answers, prognosis,
ideas about what our future might look like, it's incredible.
It would change our world,
it would change our world.