Practice English Speaking&Listening with: My Perfect Family: Rett Girls

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(FUNKY DRUM 'N' BASS MUSIC)

Captions by Glenna Casalme

www.able.co.nz

Captions were made with the support of NZ On Air.

Copyright Able 2018

(SLIDING DOOR WHIRRS)

Baby play.

You play with the water?

Yup?

Let's sit you there.

(COOS)

There you are.

(GENTLE GUITAR MUSIC)

(LAUGHS)

So we've got Kendyll, who's got Rett syndrome.

She's just turned 4.

We have Corbyn, who's almost 8 months.

Kendyll came along, and, yeah, everything was perfect.

She developed normally, till sort of about...

Six months, I sort of thought,

'Um, why is she not trying to sit up and crawl and...'

Just little thing like thatroll over. Um, and then by about 9 months, I was like,

'Nah, there's definitely something not quite right.'

Are you all right?

She didn't really have the strength like most kids at the play groups and that.

Yeah, not really having the urge to roll. Even sort of not that interested in toys.

At that stage, we were sort of reassured that, you know, nothing was wrong;

she was just sort of a little bit delayed.

And we just, yeah, did speech and physiotherapy and that

and just started sort of testing and let Plunkett know.

My gut sort of just said, 'There's something not quite right.'

But I definitely didn't think it was gonna be this, yeah, extreme.

(DREAMY MUSIC)

Sarah was born in October '93.

(GRUNTS)

Rett syndrome is just a random genetic mutation.

They don't know why the mutation happens, even though they've found it.

Rett girls are born normally, like any other child,

and start to develop normally, like any other child.

(CHUCKLES)

She was just a really cruisey baby. Just lovely.

Good job!

Then between 6 months, 9 months and 2 years old,

they all have a period of regression. So whatever skills they gained, you'll notice it drop off.

(GIGGLES) Yeah?

It's not hereditary.

But then there's one Rett girl born every five minutes.

Mostly girls' Rett syndrome is an X chromosome mutation.

So the girls have two copies of X, but boys only have X and a Y.

Are you ready? (RESPONDS)

There is a few boys in the world, but, yeah, they're a lot rarer than the girls.

(BRIGHT, PENSIVE MUSIC)

I've been Sarah's full-time carer for the last two and a half years.

Working with people like Sarah, you become an interpreter.

And you become able to read body cues, body language.

She just goes quite still, and it's like there's something going on in her head that you can't see.

But it takes her over.

It's like she's stuck.

You can't even move her hand. She's just completely stuck.

It comes and goes, so...

we just carry on, eh, as we can.

This is how your body plays up, eh, Sarah? It doesn't do what you want it to do.

Hopefully it... it goes away.

Do you want breakfast?

You want something to eat?

CHUCKLES: Yeah. (CHUCKLES)

Yeah.

There she is.

Sometimes when we say the right thing, you get the smile, and that's her yes.

(CHUCKLES) Hey?

Breakfast? OK. Yes.

Smile. Yup, you got it.

Depends how well your body's behaving, to what tools you can use to communicate.

Communication can be as subtle as a look or a movement.

I can see her face change, or when she's thinking about something,

or it can also be a soundcan indicate to youis she's happy, sad, scared, what's she thinking.

Or even just looking. Looking around, you know, perhaps they want

do they want that or want something with that?

Come on, love. Come and have a swing. Good girl. Come on.

Now, looking back, she always used to prop pillows behind her. She was a little bit floppy in some ways.

...or a swing?

She never crawled, but she wanted to be up.

And then, yeah, she just walked across the floor at 9 months old.

She developed just like any other child, really, and started to say wordsyou know, mum, dad, dog.

Come on.

And then at age 2, she started to bite her thumb.

Then she started to get eggs out of the fridge and carry them

and then, what appeared to be, dropped them for fun.

But in hindsight, she was losing her ability to keep that grasp, and dropping things.

Hold on.

Can I give you a little push?

Hold on with two hands.

Hold on.

You holding on, Sarah?

Hold on, love.

Good girl.

Hold on.

2 and a half, she started to not use some of the words she was using.

She just was having a lot of what we thought to be tantrums.

I was living in a violent relationship.

I talked to my doctor about if it was normal 2-year-old tantrum behaviour,

or was she... was this the result of her environment? So I got out of that environment

and then had a referral to a paediatrician.

By that stage, she started to lose her eye contact. So she couldn't maintain eye contact any more.

When we first saw a paediatrician, there was a question mark

maybe she had some autism, like somewhere on the spectrum.

Second time we went back, she was not only biting her thumb when she was having these episodes

of anger and frustration and 2-year-old tantrums.

Um, but she was... It was like she was...

Well, I just said to the doctor that she was like trying to shove the whole hand in her mouth

with the other hand, and so he kinda went and sat at his desk for a while and...

Probably really difficult for him how he brought the name 'Rett syndrome' about.

(CHILDREN CHATTER)

I went away and looked up what Rett syndrome was,

and (VOICE TREMBLES) I just knew.

Sorry.

But it was a good thing, cos it... I knew it wasn't me.

Yeah.

(POIGNANT MUSIC)

At the beginning, they were like, 'Nah, nothing's wrong. We'll just do therapy.'

And then weit sort of got maybe to about where she was 2,

she was showing that she was definitely delayedum, quite extremely delayed.

Still not crawling. And that's when they were like,

'Um, we're thinking it's probably genetic, so we'll start doing genetic testing.'

Kendyll. Who's that?

All of it came back normal.

Kendyll.

Kendyll. Looking over here.

Then she started doing the hand movement, which is a stereotypical thing for Rett kids,

and our paediatrician sent the form away that she'd started doing that,

and, yeah, he got hold of me and sort of said, 'Right, I'm gonna test for Rett.'

We waited about five, six months, and, yeah, it came back and, yeah, it was Rett.

Yeah, she had the mutation.

Can you bowl it down?

Corbyn!

I knew nothing about Rett. I had never heard of it, never knew anyone with Rett.

I mean, it was devastating. But it was good to finally have a diagnosis, I guess.

And it was answers, which was cool. Because we hadn't had answers for, what, three years,

and we just didn't know what Kendyll's future was gonna look like, or our future.

(CHUCKLES) You got it!

I was pregnant at the time, when we got the diagnosis.

So it was good to know that, you know, next child wouldn't suffer from what Kendyll had,

which was really good as well.

Shall we find your page of your colours on?

She might be thinking about what kind of colours and designs that you're gonna...

I guess because I didn't plan the pregnancy, I didn't plan to have a perfect child,

so there wasn't this 'perfect child' dream broken.

(GRUNTS)

Is it frustrating?

Yeah.

(GRUNTS)

(YELPS)

(GROANS)

(WHIMPERS)

I don't know why I can't colour that. Does it frustrate you?

Does it frustrate you, Sarah?

(WHIMPERS) Yeah.

(WHINES)

(SQUEALS)

Life just came at me, and I just ran with it, really.

(WHIMPERS, WHINES)

You're all right.

It's OK.

She's 24-7. She doesn't go to sleep at the same time at night and then sleep until X time in the morning.

Yeah, she doesn't really have a sleep-wake cycle.

(SCREAMS)

(WHINES)

She's been awake all last night. She went to sleep...

(SHRIEKS)

...after a seizure, at 6.15 this morning.

Mind your head. Yeah, your head's stuck.

Sometimes her seizures, it's like they're brewing for hours before.

She can change from minute to minute.

...frustrated.

(SPRAY HISSES)

Little bit angry. ELECTRONIC VOICE: Angry.

(WHIMPERS, GROWLS)

(SHRIEKS)

(BEEP! BEEP! BEEP!)

Don't have a heart attack.

Maybe you want to do something else.

(WHIMPERS, CRIES)

Let me have a guess what could be wrong.

ELECTRONIC VOICE: Uncomfortable.

So Sarah uses an Eyegaze device, or the Tobii,

and that works by knowing where her point of vision is on a screen, through tracking her eyes.

So her point of vision becomes a cursor on a screen that she can select, you know, cells.

She can tell us so many things about what's going on with her body,

what she wants to do, what she likes, where she wants to go.

She was the first Rett girl in New Zealand to be funded an Eyegaze device.

ELECTRONIC VOICE: Get out of my chair.

Ah. Mm.

I was thinking maybe it was that. Yes.

OK.

Are you a bit uncomfortable in your chair?

Yeah.

Should we take you down to your room, Sarah?

Close your eyes for 'yes' and look away for 'no'.

Mm.

That's good. Good communicating. That means 'yeah'.

We hear you. We do.

Awesome, Sarah.

See? You got there, eh, in the end?

We waited, and then you were able to say what you wanted. Yes.

'I wanna get out of my chair.'

(SOBS SOFTLY)

I guess it's like, um, if you've known someone for a really long time

and you look across the room at them, and you know what they're saying.

Yeah, I've always had that with Sarah, and I think every other parent will say the same thing.

Because you know that they understand you. You can see the words in their eyes.

Let's try and walk to your bed. Walk with Michaela. (BEEPING)

Good girl.

OK.

Straight.

Good girl.

Well done, Sarah.

Good job, buddy. OK.

(SIGHS) Awesome.

Yeah, she's really on the brink of a seizure, eh. Mm-hm.

(BEEP!)

(SOMBRE MUSIC)

Get your shoes off.

We measure people's intellect by testing their comprehension,

and it's usually by a motor response.

So asking a Rett girl to do a motor response,

when that is the problem,

she will often

appear to be disinterested,

so then they make an assumption that,

'Oh, they don't have comprehension of what I'm asking.'

Certain teachers, they knew she could read;

they knew she could learn; they knew she understood.

There's nothing wrong with her intellect.

Yeah. She can't show her intellect in the ways that we test them physically.

(VELCRO RIPS)

With those really thick black gloves, she doesn't break the skin so much with the black gloves.

Cos it takes her two seconds

to bite open her skin.

It's very comforting for her, but she doesn't feel the pain that we would, probably.

So, yeah, it's part comforting,

part the only way she can communicate how bad she's feeling.

So if it's not so bad, she might just make sound,

and then the next level is to make some sound and bite a little bit.

And then to say, 'It's really bad. I need you to sort it out really quickly,'

that's when she bites really hard and throws her body around,

as if to say, you know, 'I need help now. It's urgent.'

But, yeah, she can do a lot of damage to her skin in a really short time.

(PENSIVE MUSIC)

Brush your teeth, Kendyll.

Come here.

Gonna brush your teeth.

(CHUCKLES) Oh. Stretch.

(LAUGHS)

Are you ready?

Brush, brush, brush.

Brush, brush, brush, brush, brush.

Good girl. Almost done.

She's a cheeky wee girl.

Aren't you?

LAUGHS: Yeah.

And she's just very lovable.

She's just a beautiful girl. (CHUCKLES)

Yeah, she just loves being round family and friends and doing new things,

and she loves being outdoors, and she absolutely loves her food. (LAUGHS)

(PENSIVE GUITAR MUSIC)

In the car, sweetie.

(POIGNANT MUSIC)

Off to Riding for the Disabled.

Kendyll rides there every week.

She absolutely loves it when she's there. It's really good for her strength and that.

She just enjoys plodding around and seeing the horses.

(CLICK!)

Cos we know that she's obviously gonna get heavier for us,

you know, she may stop developing.

You know, she might stop crawling or able to sit up on her own and that,

so we are trying to do as much as we can at the moment

while she's still light enough for us to carry round and, yeah, do a lot of experiences with her. Yeah.

Hello, Tiana.

Whoop. On.

Kendyll's been riding with us since she was quite young.

So she's been here at least two years.

So we've got to know her and her family quite well.

I have a preference for starting children early as possible,

especially if they have sufficient trunk and head control.

I feel that they can get the most benefit from it the younger we start.

What are they doing?

Because for her to balance this way is quite a challenge.

That's a good girl.

Shall we get Whitey to walk on?

So because her core is being supported on the pony's back,

the pony's mimicking walking for her.

So this is like walking, for Kendyll.

It's nice and safe. And clearly she likes it.

Within any syndrome, there's variations within it.

And some are very severely affected, and some are not so badly affected.

And what you're seeing on the paper from the specialist and the paediatrician

isn't what I see come in the door.

You can see she's holding on with her left hand

quite nicely, actuallyon to the strap.

OK, we're gonna try a little walk.

(CLICKS) Now we're gonna walk on.

It's very stimulating sitting on the pony, especially when you're unable to walk.

There's your sister.

So in her own way, she's communicating.

She talks with her eyebrows.

There's a lot of... He Maori koe?

...lot of eyebrow movement.

Yes.

Happy?

Happy. Yes. Happy.

Aw.

(GENTLE PIANO MUSIC)

There, there.

Yeah.

That's your cat, eh, Sarah?

She's the nice little one.

This is my cat.

Eh?

She's gentle like you, eh, Sarah? This cat, Chichi.

(SWEET PIANO MUSIC)

Leaving the house is a commitment.

You don't want to leave the house and be half an hour from home and have forgotten something critical,

such as medication.

It's pretty critical that we have all and any medication that she does take,

because you just never know what's gonna happen with Sarah. She could be fine here,

and then we'll got out and she'll become really distressed and uncomfortable.

So Sarah takes pain relief.

She's actually very sensitive to benzo, so... like morphine and such. So she takes paracetamol,

small amounts of codeine and ibuprofen.

So that's what we use for her pain.

We also use...

She has medicinal cannabis, which is Sativex spray.

Trying to medicate her for pain has been a huge issue.

No one really takes hold of her

as a complex patient.

Each department thinks it's the other department who should be dealing with that.

They basically put her in 'too hard' box and left us in complete despair.

There we go.

Oh, so this is a gastrostomy feeding pump. So Sarah has all her water.

She just constantly, 24-7 has water. Cos she can't drink.

We don't try and rush anything.

We don't care about being late, (LAUGHS), because it's more important that we are prepared.

Last year, Sarah's health was pretty poor and got worse during the year,

and her ability to leave the house became smaller and smaller.

As you can imagine, having to spend weeks on end in your bedroom

can be very hard, mentally.

It is a task to keep the sprits high,

keep the energy going and

not be too sad ourselves, even though we may feel bad.

When Sarah goes out in the community, she's two-to-one,

because of her needs, because of her seizures and oxygen.

So we always need one person driving, one person sitting in the back with her

to attend to her needs as it happens.

Because you don't want to be on the motorway driving and she's not breathing in the back.

Sometimes there's three of us doing it.

Let me have a look.

(RATCHETS CLACK, LOCKS CLICK)

(POIGNANT MUSIC)

You know, I don't get any respite. I haven't had respite since she was 17. Seven years.

Yeah, so I work an average of 12 to 14 hours a day, seven days a week.

And if I want to get paid for that work, under the new Family Funded Care,

I'd have to take the 40 hours a week out of her existing supports that I have a during the day.

But I need all those supports for during the day. I can't be without them.

Hi, Sarah!

(ALL GREET SARAH)

Definitely feel passionately that you should not write off someone who's not verbal.

Just because they can't speak doesn't mean they can't think, that they're not present,

that they are not wanting to

be a part of your conversation, be present in the room;

and understanding that they are inside, especially with Sarahshe's locked in her body.

(UPBEAT MUSIC)

If you think about that for a while, you can imagine how immensely frustrating that is

the strength that that takes to battle through life,

with people assuming that you aren't a normal 24-year-old girl

because of the body you have been given.

One, two, three!

ALL: Go!

(CHEERING, EXCLAIMING)

This is really important for me, that she has opportunities to engage and belong to other communities.

...three. Lift!

Wow, wow, wow!

(ALL CHEER)

Have a sense of self, sense of belonging, that she ishas the same citizenship as anyone else her age.

Nice, Sarah. All right. So who hasn't gone? Me!

(CREAKING)

But I'm not sure how much she's going to cope with today.

Gonna stand up nice and straight, sweetie.

That's it. That's it.

Nice and tall.

Good girl.

Yeah, so she's having to really

work hard to keep that balance,

from falling over.

Good girl.

And we've noticed a decline in her muscle strength and that,

so, yeah, we're definitely trying to get back into daily.

Eh, miss?

So it's something that she just found so easy, going back six months ago,

which is all just declining,

which is pretty, I guess, normal for Rett kiddies.

Yeah, it's just something that she can't really control.

You're doing very well, sweetie.

You know, at the moment, Kendyll's able to crawl and sit and eat,

um, by herself, but sort of looking into the future,

it's definitely something that's going to deteriorate.

We're gonna stand.

And up.

Up, up, up. Come on.

You know, she could develop seizures, scolio. Uh, most girls develop scoliosis.

Good girl.

She's...

probably not going to learn to walk.

She'll never speak.

Nice and tall.

There's some nights where she's just so, so upset, and we just have no idea, you know, what is going on.

So for her to be able to say, you know, she's got a sore stomach or sore head or whatevertoo hot

it would be, yeah, absolutely amazing for us.

It is quite a scary thing to look, you know, into the future,

but we are hoping, you know, they're working on different trials and, um,... hopefully a cure.

But, um, yeah, it's just something that we have to just wait and see.

(GENTLE MUSIC)

(BRIGHT MUSIC)

Rett's a robber, isn't it?

Robs your body. Robs ya.

You can see such a difference, eh, from before to know.

It just comes in and steals you like a ghost. But you're still there.

It's just not letting your body.

See?

It's just hatched.

Wow!

(SPEAKS INDISTINCTLY)

Yeah, she's looking, Jemima.

Yeah, she's got her eyes open.

(LAUGHS)

Boo.

It'll be OK.

Can you see? Can I take your glasses?

(HAPPY CHATTER)

That one.

They're just people, at the end of the day. They girls are in there.

Yeah, that's the most important thing, I think, is be kind.

Like, yeah, our girls are just trapped in there. They know exactly what's going on;

they know what's being said about them. And, yeah, just the awareness of getting it out there.

It can happen to anyone, and, yeah, it's just one of those things. (GIGGLES)

(LIGHT, GENTLE MUSIC)

Captions by Glenna Casalme.

www.able.co.nz

Captions were made with the support of NZ On Air.

Copyright Able 2018

Attitude was made with funding from New Zealand On Air.

Nominations are now open for the 2018 Attitude Awards.

Held at Auckland's Sky City, this premier event shines a spotlight

on the achievements of people who live with disability.

Go to AttitudeAwards.org for information about the categories

and how to nominate someone you think deserves recognition.

The Description of My Perfect Family: Rett Girls