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Living with Fragile X (My Perfect Family: Fragile X)


* We’re three sisters who, like
most people, had a pretty
normal upbringing, with no signs that
anything was wrong. But little did we know, we were
carriers for a genetic condition
called Fragile X, and each of us would pass it
on to some of our children. Between us, we have eight children,
and five of them have Fragile X. (POIGNANT MUSIC) Captions were made with the
support of NZ On Air. www.able.co.nz
Copyright Able 2019 (DYNAMIC CHIME MUSIC) Angela was a mean older sister,…
(LAUGHS)
…but— Too cool for us.
Thanks for ganging up on me.
Yeah. Donna and I always, um….
Still am to be honest.
(LAUGHS) Donna and I always shared a room.
Uh, we grew up in Glenfield.
(BOTH LAUGH) Did we?
Yeah.
Yeah. Then we spent some time in
Wellington. Um, Dad was in the navy.
(ALL LAUGH) So, our family has a genetic
condition called Fragile X. We only found out about it
about three years ago, when my nephew Flynn was diagnosed
with Fragile X at the age of 7. Following that, my other sister’s
son Leo, who was also 7, was
diagnosed with Fragile X, then my niece, who was 11,
was diagnosed with Fragile X. At that time I had a 20-month-old
and an 8-month-old, and they were
both also diagnosed with Fragile X. Most of the people that I encounter
have never heard of Fragile X.
I had never heard of it. It’s a complicated issue.
Everyone has an X chromosome —
men have one; women have two. On the X chromosome,
the gene produces a protein. When it becomes disrupted, the gene
becomes fragile, and that’s when you
develop Fragile X. One in 250 women are carriers. That’s one in… maybe 400 men are carriers. The difference is that when a woman
passes on the gene to her children,
it expands. When a father passes on to his
daughter, it stays the same. So because girls have
two X chromosomes, the good chromosome can compensate
for the affected chromosome. So the boys only have one X
chromosome, so once it’s damaged,
it’s damaged. So they’re more seriously
affected than girls. There are similarities with autism.
The similarities are the sensory
issues, behaviour, social anxiety. The main difference is that children
with autism can have normal
intelligence. Children with Fragile X, there is
always an intellectual component, and they have physical
characteristics. Generally they have a large,
protruding forehead and big ears,
a long face. Fragile X kids are really sociable.
They are funny, they’re friendly,
they love being around people — they’re so loving. It has been really hard
on us as a family. I feel like we all went
through it separately.
BOTH: Mm. It was just so different
for all of us, like… There was quite a long time between
each child actually being diagnosed, cos you thought Leo had
been tested, didn’t you?
Yeah, initially I thought— So you took a bit of time…
So you thought he was negative?
…with the results. No, I don’t think we thought
there was any connection. I think Flynn— Because Flynn’s
was initially his vision,
Mm. I think that…
Yeah.
…sort of clouded it. Yeah.
And so he was just— No one else
had the wandering eyes and stuff. No.
Mm. Yeah.
So, it was just— Yeah, I never thought it
was something that…
No. Connected.
All of them.
No. Yeah.
(ALL LAUGH) (UPBEAT CHIME MUSIC) Uh, I’ve got three children —
Travis, Ashleigh and Flynn. Flynn has Fragile X.
He’s 10-years-old, and
he was the first diagnosed. So with Flynn, his milestones
did come a bit later. He wasn’t— He crawled when he
was about 12 months, walked at
18 months. When he was about 5 months old,
we noticed he had nystagmus,
which is the wandering eyes from side to side. We noticed
developmental delays when he
was around 3, and so, we’ve seen about three
paediatricians. So initially it
was all around Flynn’s eyesight. The second paediatrician we saw
said to us, ‘If anyone tells you
he’s got autism, they’re wrong.’ So they took a blood test, and… came back as Fragile X. So that was when he was 7.
When he was diagnosed, we
came home and googled, and we were just like ‘Yes, yes,
yes, yes, oh my goodness.’ (LAUGHS)
Yeah. And it was just— Yeah. It made absolute sense. I text Donna and asked— cos I knew
she was going to get some results.
I said, ‘How did it go?’ And you text me back, ‘Fragile X,’
and I thought she was texting me
back to say she’s feeling fragile. – (BOTH LAUGH)
– BOTH: Kiss.
– Oh. So I sent her a text back and said,
‘Give me a call when you’re ready
to talk.’ Was Monique diagnosed before Leo?
No, after Leo. But I guess that’s the—
The difference in finding out
when they’re a bit older, cos you kind of do already have—
Yeah. You already know what that child’s
like. You’re, kind of, already at
that acceptance… Mm.
…of them—
It just answers some questions, eh? It’s just, kind of, like an,
‘Ah, that’s why she does that.’
(LAUGHS) Yeah. Yeah. (LAUGHS)
Maybe.
(ALL LAUGH) I have three children. My daughter who’s 14 and my
youngest, who is 10, both
have Fragile X Syndrome. Damien, my middle son, has
been tested, and he does not have
Fragile X, and nor is he a carrier. We’re hitting the teenage years with
two of them, so (LAUGHS) things can
get a little bumpy sometimes. Don’t hit him. Stop it.
OK. Leo, that’s enough please, mate.
Nuh-uh. Leo! Let me pat him, geez.
Monique’s allowed to pat him too.
MOCKINGLY: Let me pat him, geez. (LAUGHS) (COOS) Come on, he can go run.
That’s his favourite place. I wasn’t too surprised when Leo
was diagnosed, but it was still
upsetting. It was still— You’re still, in the back of your
mind, hoping that it’s not gonna be.
(LAUGHS) Leo was 7 years old when he was
diagnosed, and Monique was 11. With my daughter, I definitely felt
like something wasn’t quite right. I could see that she didn’t quite
keep up with the other kids, and she had delayed milestones. Particularly, I noticed once she was
at school. She didn’t quite fit in.
She desperately wanted to. I asked the paediatrician to test
Monique because I felt she could
also have Fragile X, so the paediatrician agreed to that. Unfortunately, the genetics
weren’t that happy to test her, so it went back and forward quite
a few times before they agreed. I remember him ringing me and giving
me the news that she was full
mutation, and that was quite upsetting
because I just— I thought she might be a carrier,
rather than the full mutation. (GENTLE PIANO MUSIC) I’ve got Fragile X, as well as Leo, but it’s a little bit different
because it affects me less as a
girl. Behaviour isn’t— I wouldn’t say
it’s, like, the main thing that
I struggle with Fragile X. I would say it’s more the learning
side of it, because I think I find
the learning really difficult, and then that’s what
gets me frustrated. Sometimes it is social experience.
I’m not always the best with
thinking what’s right to say and what’s not right to say. In the classroom, a lot of the time,
that’s when I would say I struggle
the most. People don’t notice it,
but I really struggle. (SOFT PIANO MUSIC CONTINUES) Well, I always knew there was—
something was off, you know,
with the kids, but— And obviously with Flynn.
We knew it was his eyes, but…
Mm-mm. So we thought it was two
different things, I guess.
Yeah. We didn’t… No. Connect it at all. Although when Harry was a baby,
and I was insistent that there
was something wrong with him, Andrew kept saying to me, ‘You’re
only worried because of Flynn and
Leo. ‘You’re only worried that
there’s something wrong.’ (POIGNANT MARIMBA MUSIC) Harry is 5, and Ben is 4. Life’s really busy. Harry’s now at
school, and Ben goes to kindy three
days a week. I used to work as a nurse specialist
in bone marrow transplant. I would have liked to have gone back
to work, but, yeah, it’s just not
been possible. Who are we gonna see at school?
Mr Watts.
Mr Watts. When Harry was born, he just
stopped sleeping during the day, and he would literally cry from the
minute he woke up in the morning
until 11 o’clock at night, and I was told, ‘Oh, it’s colic.
It’s reflux. Oh, he’ll grow out
of it.’ And I’d say to the other mums, like,
‘Does your baby cry a lot?’ and
they’re like, ‘Oh, not really,’ and I’m like, ‘Oh, really?
My baby cries all day.’ (LAUGHS) So he reached all of his milestones
of sitting and rolling, but when he was about 9 months old,
he would rock in his high chair. I was given reassurance and told,
you know, ‘He’s not autistic.
There’s nothing wrong with him.’ I went back to the GP when he was
17 months. He didn’t have any words, and by that stage, I think Flynn had
been diagnosed, and then Leo got
diagnosed not long after. As soon as I heard Fragile X
and googled it, I was— I knew— knew that’s what Harry had. But it took a bit longer
for Andrew to accept that. After Harry’s diagnosis, we got
referred to the genetic services. So we went to that appointment with
the intention of getting Ben tested, and we were told, ‘No, it’s his DNA. ‘When he’s old enough to request
the test himself, then he can get
tested.’ You know, I said to her,
‘This is causing me and
my partner mental anguish.’ She eventually asked us some more
questions about Ben, and when we
said that it— he was 13 months now, he wasn’t
waving or clapping, she said,
‘Oh, OK. We’ll test him.’ When I found out that my
children had Fragile X and
that I was the carrier, I felt guilt. (BREATHES RAGGEDLY) Everyone tells me not to feel guilty
because we didn’t know about it, but at the end of the day,
I gave it to my children. * (DYNAMIC CHIME MUSIC) They are friendly,
happy little guys. The only real difficulty
from a family’s point of view
is the socialisation. The boys are fantastic when they
go somewhere that they know
and they go regularly. They— They’re in
their little element, but if it’s a fresh new, different
place every time, then the anxiety
levels go mad on them. When something upsets them, it’s
pretty major — screaming, crying, biting, kicking, lying on
the ground refusing to move. Generally, we don’t go out with
the boys unless we’re together. So, cos of Fragile X,
they have sensory issues — issues with noise or bright lights. Um, my children in particular
find going to the mall very hard. It’s the lights, the fluorescent
lights, they can hear the buzzing
of the lights, whereas, you know, most of
us don’t pay any attention, but their senses are so heightened
that they’re aware of everything
going on around them, and the bright lights and the
busyness — they always struggle. (DRUM PAD METRONOME TAPS) So with Flynn, at first we
were like, ‘Mmm, he doesn’t
have anxieties at all,’ but he repeats his questions quite
a lot, so he always wants to know
what’s for dinner tonight, and what are we doing on Saturday. Anxieties, I think, are also
showed as he gets louder, as
he gets excited and hyped up. It’s extremes, yeah. There’s like—
They reckon there’s this buffer
that they sit in that’s normal, and ours is like this thick,
and Fragile X is down here, and once they’re out if it, it’s
really hard to get them back in. Social stories and using visuals
have changed everything.
If we’ve got something coming up, I write a story and put photos in it
of the boys doing what the activity
is, so, you know, ‘We are going to the
mall.’ ‘We are going to see Santa.’
‘We can sit on his knee.’ And we read this story a couple
times a day, every day for about
two weeks before the activity, and then that really lowers their
anxiety. They know what to expect.
They know what’s gonna happen. (PLAYFUL CHIME MUSIC) Generally happy, smiley,
great senses of humour.
Yep. Um, very different from autism.
Fragile X children
are big imitators, so by having the neurotypical
children around them, they will
pick up those behaviours, rather than maybe some
other behaviours…
Less desirable. …that are less desirable, yeah.
So it’s important to be around good
role models and other children that— Yeah. Good to get the
right social cues and…
Mm. Although that isn’t always
easy in itself either, because they do miss the social cues
and can cause a bit of frustration. (PLAYFUL PIANO MUSIC) Flynn started in a special school,
and his behaviour started to
deteriorate really badly, and we learnt that Fragile X
kids imitate a lot. Then we decided to bite the
bullet, have a leap of faith
and go mainstream. (EXCLAIMS) I think I met Flynn first,
and then it was these three. Yeah, it was really hard.
I couldn’t— Yeah, cos then you had
no one to play with.
Yeah, I didn’t. But then we came along
three years later.
(LAUGHS) Cameron came along, and I was,
like, alone, and then Cameron
came along and I had Cameron. We were put into the same class
as Flynn, and we started talking.
He made the whole class laugh, and we’ve been friends ever since. Well, I’m kinda funny, but, like, I
just play— But I’d say I have stuff
on— other basketball stuff, yeah— Yeah, we have basketball.
Yeah, Flynn’s really
good at basketball. Yeah.
Yeah, he’s getting better. He’s developing some basketball
skills, aren’t you, Flynn?
Yep. And some haircutting skills.
(LAUGHS)
Yeah, he cut his own hair last week. (ALL LAUGH) (POIGNANT MUSIC) He loves going to school every day. He’s loved by all the kids, and
they just all know him and make
allowances for him. But I like to think also that
he gives as much as he takes. Leo has had a few tough years
at school. It hasn’t always
been easy for him socially. He’s probably at about a year one,
year two level. He can read sight
words. He can’t sit and read a book. Maths, he can do some
quite basic adding, but with a lot of support. The Forest School is
an outdoor environment, and they get to build
things and dig. It’s a one-day school, so he
just gets to go one day a week. (CHILDREN EXCLAIM, SHRIEK) All right, so have a think. Do you
want to go down to the beach and do
rope swing, crabbing and dam building? Or…
Dam building! …do you want to go up to
the garden — bean planting,
tepee building and having a little look
at the baby chicks?
Tepee building! We certainly do have children who
have a range of disabilities. We’ve also got very much
neurotypical kids who, you know, are just here because
they love the outdoors. (CHILDREN EXCLAIM) (HAMMER BANGS) To learn to use a real tool is so
empowering, and so they come away
very confident. They’ve done something that people
may not have thought that they
could have done previously. Um… Does smell good, doesn’t it?
Leo, come and have a smell.
(HAMMER BANGS INTERMITTENTLY) (SNIFFS)
Would you drink that?
Nah. I would.
I would. Smells pretty good, but we
need some cups, don’t we? Leo’s the first student that
I’ve taught with Fragile X. Leo is a bit more reserved, and so
it’s hard, always, to figure out
exactly what he needs, cos he doesn’t really let us in
as much as some of the other kids. TEACHER: Maybe put it on sprinkle. When he is working, he’s very
focused, to a point where he
can be a real perfectionist. We’ve had a few meltdowns with…
more the frustration when something
doesn’t go according to plan. I just think it’s a good place
to build his self-esteem,
cos I feel at school every day, he must really know that he’s
struggling and doesn’t quite get
things the way the other kids do. There’s one! Aw, there’s one!
There was a big one over there!
(CHILDREN CHATTER EXCITEDLY) There’s this culture here where
there’s, kind of, no judgement, and so for our children that do have
differences, they are included, and
we all just help each other out. * You had your tablets?
Yes!
Have you had your breakfast? Yes!
Are you dressed?
Yes! No.
Yes!
You’re still in your pyjamas. Have you been to the toilet?
Yes!
Yes. What day is it? Friday!
It’s—
Mummy! W…
MUMBLES: Wednesday.
Wednesday. Harry, school?
Yep. And Benny goes…
Kindy. Yep. The boys follow a visual
chart in the morning. I have pictures up on the wall of
their breakfast bowl and them
getting dressed, a picture of the toilet,
and then he knows what he has
to do to get ready for the day. You know, and I often think of my
sister’s kids who weren’t diagnosed
until 7. They missed out on all
that early intervention. (UPLIFTING PIANO MUSIC) So, Donna introduced me to Andrea,
who’s the executive director
of Fragile X New Zealand, and, yeah, I’ve just
gotten more involved…
(LAUGHS) Bronwyn’s found a… …since then. Yeah.
So, I’m now on the board. You know, in research— There’s been
a lot of research happen in
Fragile X because it’s the most common
single gene cause of autism, and so we know a lot about the
impact of Fragile X on the brain… I work for Fragile X New Zealand.
My job really is just being front
line for the organisation — when families ring,
when they’re newly diagnosed, or when they come across issues
they want more information about, uh, when professionals
call wanting information; and that can be education, health,
or disability sector organisations. So anxiety— If you don’t take
anything away from today, other than understanding what the
huge impact that anxiety has on
people affected by Fragile X… So I’m going to talk to the staff
to help them to understand how Harry
learns, how Fragile X affects Harry, and then we present that
information to the school around these are the strategies and
interventions and supports that we know will make
a difference for Harry. …we understand that. So we
see that attention is impacted. So we see a little
bit of hyperactivity,
trouble initiating tasks, so you’ll need to support
beginnings of tasks. For children with Fragile X, their
‘just right’ zone is very small, and they sit quite heightened
a lot of the time, and they can flip into that
hyper-arousal state really
quickly and very often. Ideally, we are gonna act before
he goes into hyper-arousal, so it would be putting a sensory
diet into the day. You know, if he
goes out and he swings for a bit, you’ll find then you can come back
and he’ll be really well-regulated
to do some learning. (CHILDREN CHATTER) Ready? Go! ALL: 10, nine, eight, seven, six, five, four, three, two, one. Zero! Blast off! Eric’s been with us for
exactly one week. Before that, he started doing some
class visits with his mum, Bronie, and she did an amazing job
preparing Harry for school. So, she came in, took photos of—
pictures of everything — his
early morning routine, his locker, the classroom — so that when he
started, he had all these pictures
to prepare him for school, and she really wanted us to know
exactly everything there is to
know about Harry. So she made this wonderful book, and
it’s ‘A Book About Me’, and I found
this very helpful as his teacher. The one thing that was pointed out
to us was his ear — one of his ears,
I think it’s his right ear — goes red when he’s anxious, so
that’s great for me to be able
to see if he’s getting anxious. He can get quite anxious if
the noise builds up too much. You can see he possibly might start
biting into his hand, or he— moving
around quite quickly, or if you give him a book, he’s
rustling through the pages quite
quickly, and that’s, kind of, signs where he
just needs a little bit of time out
to, sort of, regulate himself, and, sort of, come back to being
able to come back into the
classroom. He likes just touching him there.
It’s just like that sensory—
just keeps him calm. It works quite a lot. Well, he’s settling down a
lot quicker than I expected. He’s following instructions,
and he’s getting into his routine, and he seems very happy here
with all the children. (UPBEAT CHIME MUSIC) We don’t get together so
much these days, do we?
It’s quite noisy when they— Yeah. Yeah.
They all hype each other up, and
suddenly it’s— The younger boys, they— it gets too much
for them, and they…
Yeah. …struggle to cope with
the noise and stuff.
Yeah. So it often has to be quick…
(BOTH LAUGH)
…family get-togethers. What was that? Do you know that
Harry had to sleep in your bed—
(SQUEALS) Hey! Ah! Mummy! Got hopes— Got hopes for the future,
but we don’t know— have any idea
what the reality will be. My only hope is that he can be
as independent as possible,
have a job, you know, something to get up for
in the morning and…
Yeah. Mm.
…be in the community.
He loves people and… Yeah. Mm. Just to be, I guess, happy
in themselves, because Leo won’t be
a doctor or a scientist, doesn’t mean he’ll be any
less happy than anyone else. We don’t know what that will be yet.
(LAUGHS)
Just gotta find it, in time. Yeah, I think there
will be something. At least these days, people are more
accepting, and hopefully there—
those opportunities will be there, and you do hope by these guys
attending a mainstream school, that those children that’ve gone
to school with them will be more
accepting, and then maybe as adults
they might look to employ— maybe somebody like these guys.
Mm. Mm. So hopefully that’s opening
a new thing of acceptance.
We just have to wait and see. Hurry up!
Right, you got about 10 seconds.
(LAUGHTER) At the count of three— At the count
of three, we say cheese!
One, two, three — – ALL: Cheese!
– (LAUGHTER) All right.
There you go. Captions by Annie Curtis.
Edited by Antony Vlug. Captions were made with the
support of NZ On Air. www.able.co.nz
Copyright Able 2019 (CALMING MUSIC) Attitude was made with
funding from NZ on Air.

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