Shaun Pye, Sarah Crawford, Sarah Wynn and Naimah Callachand: Shining a light on rare conditions

Joey was diagnosed with DYRK1A syndrome at the age of 13, through
the 100,000 Genomes Project. DYRK1A syndrome is a rare
chromosomal disorder, caused by changes in the DYRK1A gene which
causes a degree of developmental delay or learning difficulty.


In today's episode, Naimah Callachand, Head of Product Engagement
and Growth at Genomics England, speaks to Joey's parents, Shaun
Pye and Sarah Crawford, and Sarah Wynn, CEO of Unique, as they
discuss Joey's story and how her diagnosis enabled them to
connect with other parents of children with similar conditions
through the charity Unique. Shaun and Sarah also discuss their
role in writing the BBC television comedy drama series 'There She
Goes' and how this has helped to shine a light on the rare
condition community.


Unique provides support, information and networking to families
affected by rare chromosome and gene disorders. For more
information and support visit Unique's website.


You can read more about Joey's story on Genomics England's
website.


 


"Although we’re a group supporting families and patients,
actually a big part of what we’re doing is around translating
those complicated genetics terms, and trying to explain them to
families, so they can understand the testing they’ve been
offered, the results of testing, and really what the benefits and
limitations of testing are...just knowing why it’s happened,
being able to connect with others, being able to meet others, but
actually often it doesn’t necessarily change treatment."


 


You can download the transcript or read it below.


Naimah: Welcome to the G Word.


[Music]


Sarah Crawford: But I would also say it’s okay to grieve the
child that you didn’t have that you thought you were going to
have. I just think that’s so important. And I think for me, the
most difficult thing in the early couple of years was feeling
like I couldn’t do that because nobody appreciated that I’d
actually lost anything.


[Music]


Naimah: My name is Naimah Callachand and I’m head of product
engagement and growth at Genomics England. On today’s episode,
I’m joined by Shaun Pye and Sarah Crawford, who are parents of
Joey, who was diagnosed with DYRK1A syndrome at the age of 13,
and Sarah Wynn, CEO of Unique, a charity which provides support,
information and networking to families affected by rare
chromosome and gene disorders. Today, Shaun and Sarah are going
to share Joey’s story, and discuss how their role in writing the
BBC comedy drama There She Goes has helped to raise awareness of
people with rare conditions in mainstream culture. If you enjoy
today’s episode, we’d love your support. Please like, share and
rate us on wherever you listen to your podcasts.


So first of all, Shaun and Sarah, I wonder if you could tell us a
bit about Joey and what she’s like.


Shaun Pye: Yes. So, the medical stuff is that she’s got DYRK1A
syndrome, which was diagnosed a few years ago, which means that
she’s extremely learning disabled, nonverbal.


Sarah Crawford: Yeah, autistic traits.


Shaun Pye: Eating disorder, very challenging behaviour. She can
be quite violent. She can be quite unpredictable. Doubly
incontinent, let’s throw that in. She’s 17 but she obviously has
a sort of childlike persona, I would say, you know. She sort of
likes things that toddlers like, like toys and that sort of
thing. But that’s the medical thing. What’s she like, she’s a
vast mixture of different things. She can be infuriating, she can
be obsessive, but she can be adorable. Occasionally, she can be
very loving, especially to her mum.


Sarah Crawford: She’s very strong willed, you know. Once she
knows she wants something, it’s impossible to shift her, isn’t
it? So, she’s got a lot of self-determination [laughter].


Shaun Pye: So, her obsession at the minute, or it’s fading
slightly, which is quite funny, is that she’s become obsessed by
– there’s a toy called a Whoozit that she loves, but she became
obsessed by the idea of – she was typing buggy baby Whoozit into
her iPad, so that’s how she communicates. She’s got quite good
literacy skills.


Sarah Crawford: Yeah.


Shaun Pye: And we figured out eventually that what she wanted was
she wanted her mum to take her to the park to find a buggy with a
baby in it that also had a Whoozit in it that she could steal,
and when Sarah explained to her at some length that it was not
yours, she would say, “It’s not yours,” that drove her insane
with excitement, at the idea that she could steal another child’s
toy. So, it’s a good example of her because it’s funny, and, you
know, it is funny, and she’s so cheeky about it and she flaps her
hands, she’s very hand flappy, and she sort of giggles and she
gets really excited, but, you know, the 2,000 time she asked to
do that, and we have to walk to Mortlake Green near our house,
and to the point where – again, it’s funny when it happens, but
you get to the green and she doesn’t even look for the buggies
anymore. So, that’s an example.


But she’s a lot of different things, you know, and I suppose the
thing that is dawning on us at the minute is that she’s 17, she’s
going to be 18 very soon, and, you know, the list of presents
that she gets on her birthday is always the same, ‘cos she’s
autistic. So, at Christmas, she always gets the same presents.
But the idea that, for her 18th birthday, we’re going to have to
buy her children’s toys and – you know –


Sarah Crawford: Toddlers’ toys.


Shaun Pye: Toddlers’ toys and everything, it’s sort of hitting
home, but that’s something – a bridge we’re going to cross on
July 27th [laughter].


Naimah: Yeah, I can imagine that’s quite a difficult bridge to
cross, but it sounds like, you know, Joey’s got lots of
personality and you have lots of, you know, lovely times with her
as well. I wanted to go back a bit before the diagnosis. So, you
mentioned Joey’s been diagnosed with DYRK1A syndrome, but can you
tell me what it was like before you both – and a bit about your
journey, and when you suspected maybe something might be wrong
and what you did first of all.


Sarah Crawford: I mean, there were hints that things might be
wrong before she was born. The measurements were such that they
thought there might be intrauterine growth restriction, because
basically my belly wasn’t as big as it should be for dates, and
that was obviously the working hypothesis. And they actually did
a scan, an ultrasound quite late on in the pregnancy, which I
picked up when I looked at the report was showing a small head
measurement. And I remember querying it with the consultant, who
said it was probably measurement artefact and nothing to worry
about. But after she was born, she wouldn’t latch on, you know.
We had to switch to bottle feeding straight away. She was small,
and the head measurement actually was small. You know, you could
see on the very early one, they must have taken it kind of three
times to try and get it bigger, probably angling the tape
measure, and it had been crossed out and rewritten. That was the
pattern. So, her head simply did not grow in those early days in
the way that you would expect.


So, I was wildly anxious about this right from the get-go, and
very adamant very early on that I thought that, you know, she was
learning disabled. And to be fair, you know, the GP took that
seriously. You know, at the six-week check-up, things weren’t
quite how they should be. We got in the system very early on, saw
a paediatrician really quite early. So, I was, you know, fairly
convinced very early. I mean, I’m a clinical psychologist, I’ve
got training in learning disability, a bit more clued into these
sorts of things I guess than the general public on the whole, and
I think the bigger challenge for us wasn’t so much the attitude
of, you know, the healthcare system. It was more trying to debate
this with family, who were very much of the, “There’s nothing
wrong with her,” kind of mantra.


Shaun Pye: She wasn’t our first child, so we had experience – and
all children are different, but because we had that comparison –
all children are different. Obviously, there’s not a set thing.
But we had a benchmark in our own minds and hearts sort of, to
know that she was missing things that he’d hit, and something
wasn’t right. And the parental thing – basically, we’re talking
about grandparents – it was sort of – there were two approaches
that they took, one of which was to tell us nothing was wrong,
because they couldn’t bear the idea that me and Sarah were in
pain or unhappy. It was just out of pure love. It’s just a
natural human reaction to say, “I’m sure everything’s going to be
alright.” They were just trying to be supportive because that’s,
you know, what they thought they should say.


And then the other approach from other members of the family was
again from just a supportive, loving aspect, but it was a sort
of, “They just need a bit of tough love, pull your socks up. Lots
of children are different and you just need to learn ways of
dealing with it.” And the way I describe it nowadays is that
they’d mistaken Joey for someone on the far end of a spectrum of
abilities or behaviours, whereas she wasn’t really on that
spectrum at all. She was on a different spectrum [laughter]. She
wasn’t a difficult child. She wasn’t a naughty child, was she?


Sarah Crawford: No, no, she was a child whose brain hadn’t
developed.


Shaun Pye: She was a very, very different child. So, all of that
has gone on over the years. And genetics wise, we had early
genetics testing. Kingston Hospital took quite a lot of interest
early on, and then they sort of didn’t take any interest
[laughter].


Sarah Crawford: No, it’s more that they ran out of technology, so
they couldn’t pinpoint the diagnosis with the technology they
had. I mean, the geneticist was excellent, wasn’t he? We really
loved him.


Shaun Pye: Yeah, Sarah’s going to like this, ‘cos I’m about to
say I love geneticists ‘cos they’re – on the spectrum of doctors,
I love them, ‘cos one of the guys we saw just looked at it like a
puzzle and he was sort of excited to solve it, and he really
wanted to work out – and in a way, you could have walked away
from that thinking, “We wanted the bedside manner and we wanted
the, “Oh, that’s terrible,”” whereas he really was just a sort of
– he was terribly excited about the whole thing, and he wanted to
solve a Sudoku, basically, yeah. But me and Sarah walked away
from that just thrilled, ‘cos we’re the same [laughter]. There’s
not a Sudoku or a crossword that we don’t love finishing. So, we
walked away thinking, “These are exactly the people we want
involved.”


And so when I say they gave up, that’s not fair. They just ran
out of – you know, they can’t spend increasing amounts of NHS
money. So, they tried – you know, different genes were mentioned.


Sarah Crawford: Yeah, they tested for a whole load. I mean, his
attitude was right from the get-go, you know, based on the
history, everything else that had been ruled out, dysmorphic
features, those kinds of things – I don’t know if that’s the
terminology they would use now – but that this was going to be a
chromosomal disorder, and that they would do the tests that were
available, but that it was possible that those wouldn’t pinpoint
in, but that the technology was changing all the time, and that
if they didn’t find it now, they would in the future. And that
was how it played out.


Shaun Pye: There was one meeting that I did get a little bit –
having said that, I got slightly – but you didn’t – about one of
the geneticists, who sat there and said, “We’ll do this test and
this test, and if they come back with any interesting things then
we can get really excited.” And he used the word excited, and I
was sort of a bit, “I’m not that excited by all of this.” But
actually I calmed down quite quickly, and in hindsight I really
wanted someone to get excited by the idea of working out – but
then a long time went past. I wouldn’t say that we lost interest
in finding out what her genetic condition was, we didn’t. It’s
just it’s something that became less and less – it wasn’t like a
holy grail for us. But then the opportunity came along with
100,000 Genomes, and we signed up immediately, and then they did
that and it was a few years before that went through the system.


And then out of the blue really, we were asked to go and see a
geneticist, and we had no idea that this is what it was. I
honestly thought it was just a routine sort of, “We’ve got a few
more theories,” or something, and she just said, “We’ve found out
what it is.” And that moment is – well, we tried to describe it
in the TV programme, but it’s quite hard to describe what goes
through your mind when, after 13 and a half years, somebody
suddenly says, “Oh, by the way, that thing that happened with
your daughter, we’ve worked out what it is.”


[Music]


Naimah: I wonder if you could talk a bit about what the diagnosis
meant for you both.


Shaun Pye: It was sort of different for both of us, wasn’t it? I
was a bit more excited, Sarah was a bit more…


Sarah Crawford: My attitude early on was that, while the label
would be nice to have, it wouldn’t make any material difference
to anything to do – I mean, it was never going to be precise
enough that it would give a map out of what we’d expect for her
as an individual, and it wasn’t going to change the fact that
there was a severe learning disability. It wasn’t going to change
the challenges that we would have over things like schooling,
therapies, you know, what the future holds for her. It is useful
to have it, but it doesn’t really change the day to day.


Shaun Pye: But what it did change, and this is where Unique is so
brilliant and important, is that it puts you in touch with people
who have children with a similar condition. That’s the main
takeaway from getting the diagnosis. ‘Cos Unique is great, and
obviously in a broad sense it’s great, but to actually meet
people and be in touch with people whose children have DRYK1A –
so, I’ve met quite a lot of them now and I’ve met quite a few of
the children. There was a meetup last year, and you just walk in
and you just go, “Oh my god, oh my god” [laughter]. Literally
girls running around, just the same as Joey, just the same, and
the different ages as well. So, there were some in their twenties
and there were some just starting out on their – who’d only, you
know, very young, been diagnosed. But just to see your life just
in front of you [laughter] is very useful. So, that’s the basic
takeaway, I would say, from the diagnosis.


Naimah: Yeah. It must have been really nice to be connected with
those other parents and to kind of share experiences as well.


Shaun Pye: It was, it was. And this applies to most – well, every
family from Unique that I’ve ever encountered actually. Nearly
all of the DYRK1A – ‘cos it’s spread around the world as well,
so, you know, there’s slight cultural differences, but just to
see that they are all of a very similar mindset is comforting,
‘cos it sort of makes you think, “Actually, we haven’t been doing
this wrong.” It’s a sense of humour thing. It’s an attitude to
the world. It’s the way they see their children. It’s the way
they see the outside world. I’m not saying we’re all uniform, of
course we’re not, but you can see it. When you talk to them, you
can just see that they have the same sensibilities as you about
the whole thing, and it’s sort of quite reassuring really that,
you know, we’re not outliers.


Naimah: I just wanted to go back to, you know, when you were
talking about the bit before the diagnosis, and I wanted to come
to you, Sarah, to ask, you know, Shaun and Sarah both described
their journey with a lot of uncertainty, but I wondered, could
you tell me a bit more about the role Unique plays in this part
of the journey for parents?


Sarah Wynn: Yes. Well, actually I think Shaun’s done such a good
job of summing up why Unique exists already, thank you, Shaun.
But I think really what we’re aiming to do is to try to alleviate
that sense of helplessness and being overwhelmed, and isolation
that often families feel when they have a child that’s got
additional needs. I think our experience with our Unique
community is very similar to that that Shaun and Sarah have
described. So, many parents know that there is something – that
their child isn’t developing as they would expect. And we hear
lots and lots of stories of families going to healthcare
professionals and actually not being taken seriously, or like
Shaun and Sarah were saying, you know, everybody saying, “No,
they’re just a bit delayed, it will all be fine.” And so I think
that’s a common experience of many families, that the parents
inherently understand and know their child better than everyone
else, and it’s very common that families have to wait quite a
long time to get to that point where they get to a diagnosis.


And often I think the uncertainty continues after you get that
diagnosis, because as Shaun and Sarah said, you get a diagnosis
of a rare condition and actually there just isn’t that much
information available. So at Unique, we try to help in various
ways. One is by connecting families with other families, and that
might be other families who’ve got the same condition, but it
might also be families who are just going through the same
experiences as you are, so you’ve got someone to share your
journey with. And the other thing we try to do is to help
families understand the kinds of genetic testing they’ve been
offered, and a bit about the results of genetic testing. Because
of course genetics is something that lots of people haven’t
thought about since school, and actually quite often hoped they
never had to think about again.


Although we’re a group supporting families and patients, actually
a big part of what we’re doing is around translating those
complicated genetics terms, and trying to explain them to
families, so they can understand the testing they’ve been
offered, the results of testing, and really what the benefits and
limitations of testing are. Sarah said, often you get a result
and a diagnosis from genetic testing, but that doesn’t give you a
magic treatment that’s going to cure your child. It’s really
important, for all the reasons Shaun and Sarah have already said,
just knowing why it’s happened, being able to connect with
others, being able to meet others, but actually often it doesn’t
necessarily change treatment.


Shaun Pye: I guess one thing I would say, just ‘cos it was
important to us, and it’s de novo in our case, but that’s
comforting to know. We always suspected it was and we were always
told it was, but to have that confirmed means – I mean, we’re not
going to have anymore children, but it’s more to do with our son
and whether there’s something inherent that could be passed on.


Sarah Wynn: Yeah, it gives you information that you can use for
either your own family planning or other family members.


Naimah: You mentioned that Joey received her diagnosis via the
100,000 Genomes Project. How did that come about?


Sarah Crawford: I think it was offered, as in the 100,000 Genomes
Project was the only way that that was potentially available at
the time, that this was effectively a project that was going on
to try to answer those unanswerable questions with the technology
they had at the time. I mean, it was years between us enrolling
in it and getting the answer.


Shaun Pye: It’s so important to me in hindsight the diagnosis,
just for all the reasons that we’ve been discussing, but without
doing down the role of genetics, there was a period of Joey’s
life when we thought we’d run out of road with the testing, and
it wasn’t something that really I was obsessed with or occupied
my mind massively. It wasn’t like me and Sarah were saying, “We
must get back to Kingston Hospital. We must get back to the
geneticists. We must write to the NHS. We must insist that they
do this.” We’d sort of resigned ourselves to the fact that they’d
done all that they could and they hadn’t found it, and that’s
what it was going to be. Having said that, when 100,000 came
along, we obviously jumped at the chance. We had no misgivings
about it whatsoever, ‘cos I think we’d resigned ourselves to the
fact that we might never know.


Sarah Crawford: I think I thought that at some point we would,
because the technology, the methodology that they’re using
obviously was changing all the time, but it didn’t preoccupy me
because I didn’t think it would make a massive amount of
difference. It probably made a bit more difference than I thought
it would, for the reasons that Shaun and Sarah have said, about,
you know, particularly the sort of connecting with others, you
know, just realising how useful it is to be able to hear about
the similarities and differences that other families experience.


Shaun Pye: I think a key point for us, and I’m sure this is true
for the vast majority of Unique families, that we never thought
that there was a cure. We never ever, ever, ever, ever, ever
thought there was. And nobody in our family did. It’s not like
anyone was saying, “Oh, with this treatment or that treatment…”
Once you know that it’s DYRK1A, there’s obviously things that you
can tailor towards her in terms of therapy, you know, there are
things that you can do, but we were never under the illusion that
if we found out what it was, she could go on and some sort of
drug would suddenly make it better.


Sarah Crawford: Yeah, we’re not queuing up for experimental stem
cell treatment [laughter] in weird and wonderful parts of the
world, you know. What’s happened has happened. Her brain didn’t
develop properly in utero and beyond. There is no changing that.


Naimah: But I guess with diagnosis, and like you said, if you can
get some relief from some of those other symptoms that are caused
by it, then, you know, that’s some sort of relief for Joey and a
bit of help.


Shaun Pye: Yeah, there are absolutely concrete things that you
can learn that will – Joey will never be better, but talking to
the other families – eating disorder, that’s one of them.
Constipation, that’s another thing. But hearing their
experiences, hearing the roads they’ve gone down, finding out
that there’s, you know, a unit somewhere in the country that
specialises in this, that or the other, these are concrete
things. It’s not just about emotional support. It’s absolutely
about practical support. But there’s no magic wand, but there are
things that, you know, we’ve learnt that can help.


Naimah: And then Sarah, to come to you then, do you find that
families find it difficult to seek out help from Unique once
they’ve received a diagnosis, or are they likely to come quite
quickly to you? What’s your experience?


Sarah Wynn: It’s a really good question, and of course we don’t
know the ones that never find their way to us. But what we try to
do at Unique is to be sort of warm and friendly and welcoming, so
that it’s not too daunting. ‘Cos I think all of these things are
an extra thing for parents who are already busy and dealing with
lots of medical appointments and therapies, so we try to make it
as easy as possible to join us. Many, many families do join us at
that point of diagnosis, because that’s when they’re looking for
more information. Actually, you can get in touch with Unique and
if you decided you didn’t want to join us, that’s also fine. So,
we have a helpline that you can call. And for some people,
joining a support group just isn’t their cup of tea, and that’s
really fine. Other people find us a little bit later on, you
know, perhaps when their child starts school or, you know,
there’s sorts of crunch points where people are looking for extra
information or support that they tend to find their way to us.


But one of the things we try really hard to do is to get the word
out that organisations like ours exist, so that we can be
contacted if people want to. And lots of our families come, like
Shaun and Sarah, after the geneticist has told them that we’re
there. So, that’s a really important thing for us is that
everybody knows we’re there. You can join us and involve yourself
as much or as little as you want. So, as we’ve already talked
about, one of the things we do is put families in touch with each
other, but not all families want that. So, you know, you can join
and remain no contact, and stay quietly under the radar if you’d
like to. But those people often want their child to be sort of
counted in the system, you know. When you say how x number of
people have DYRK1A, they want their child to be in that number
even if they don’t want to go to the meetups, or they’re not
quite ready to do that. And of course people change. So, some
people join us and think, “We’re just going to quietly sit here
for a bit,” and then change their mind a bit further down the
line.


I think, although There She Goes, and what Sarah and Shaun have
said about their journey is really similar to many people’s
journeys, of course everyone is a bit different, and so people
want different things at different times. And what we try to do
at Unique is to be those things for whenever families need us.


Naimah: Yeah, that must be really reassuring for families,
knowing that they can come to you whenever they feel ready to
more than anything.


Shaun Pye: Just to jump in quickly as a sort of user of Unique,
from the sort of different perspective from Sarah, that is
literally how the service presents. That’s not an ideal that they
aspire to. That’s what it’s like. So, I can confirm that – I
mean, people think different things, and within our DYRK1A group,
for example, you know, there’s a broad range of people who think
various things, but the one thing about it and Unique is it’s
very well self-policed, so people know how to behave. You won’t
be subjected to ill informed sort of medical nonsense. It’s very
well self-policed, but it’s also very, very occasionally – I’m
speaking for the DYRK1A group – the example they gave me was
around covid and vaccinations, and, you know, people have very
strong views about it, and these forums aren’t the places to be
having that sort of discussion.


Sarah Wynn: I think that’s exactly it. One of the ways families
can connect with each other is via an online forum, and generally
we take quite a light touch in moderating it, because the forum
is for the families, and we want them to feel ownership and that
it’s their safe space. But yeah, ever so occasionally, it needs
just a tiny little bit of input. But yeah, I think Shaun’s right,
everybody’s there for the same reason, and that’s to kind of
share experiences, sometimes vent about the world, ask questions,
and actually celebrate things that other people might not see as
such a celebration. You know, lots of our families, their
children might be late to walk, and it’s a place where you can
celebrate all of those sorts of things as well.


[Music]


Naimah: So, next I want to move on to talk about 'There She
Goes'. So, you mentioned it briefly there, Sarah. So, this is the
BBC Two comedy drama, for which Shaun and Sarah were both writers
on, and it really draws upon your real-life experiences of caring
for Joey. And although the series is posed as a gentle comedy, it
also displays really frank and honest emotions experienced by
Emily and Simon, who are the parents of Rosie in the programme.
Let’s listen to the poignant clip from the series by Jessica
Hynes, who plays the mother, Emily.


Emily: You know, when you’re younger and daydream about what
family you might have – so, I was the girl who thought Claire
always got away with murder. Or when we found out Ben was going
to be a boy, if it would be like you and Soph, you know, dorky
older brother, biffy outdoor sister who everyone liked, you know.
But in none of my dreams was there a girl who… Yeah, who was like
Rosie. Yeah… No one ever dreams of a child like Rosie… You know,
and I… I love Rosie, but why do I have to be defined by her? You
know, for a long time, I felt cheated by her, because she wasn’t
the girl that I dreamt about, you know. She’d taken her place.
And then as she got older and I accepted her more, you know, what
if it wasn’t that she’d taken her place, what if she just pushed
in the queue and then if we started again, then if I had, you
know, a normal girl, and then I wouldn’t have to… I wouldn’t have
to resent Rosie anymore because I’d have the family that I’d
always wanted, and I’d have – I’d have Rosie as well, yeah.
[Sobbing] Just after all these years, haven’t I earnt that?


[Music]


Naimah: Off the back of that, I wondered if you could both tell
me a bit more about what it meant for you being able to write for
the programme and, you know, what it’s meant in the aftermath as
well.


Shaun Pye: So, it came about - I basically am a TV writer and
Sarah’s a psychologist, but it came about primarily because I was
trying to think of something to write about and we realised that
Joey’s just an incredible character. Those sort of children
aren’t featured on mainstream television really at all, I would
say. And so we thought it would be an interesting thing to do.
But from that sort of slightly selfish motive, I wrote an
episode, and Sarah read it and said, “You’re not doing that, it’s
not honest enough” [laughter]. So, Sarah came on board as a
writer with me and we cowrote it. The whole thing’s cowritten.
And it’s the most important piece of work I’ve ever done, I ever
will do, and it became far more than just a TV programme.


The first series went out and we had a screening, and Unique came
to the screening, along with some of the other charities, and we
were so terrified of what the response would be. And the fact
that the response was what it was, which was overwhelmingly,
“It’s like looking at our own lives on television,” it was
recognition. It was nothing to do with whether the stupid jokes
were funny or anything [laughter]. It was purely whether – if
anyone had turned round and said, “This has got nothing to do
with what it’s like bringing up our child,” or our brother or
sister or whatever, that would have been quite bad for us, but it
wasn’t, and that’s been the overwhelming response since. It’s,
“Thank you for putting our life on television, ‘cos it’s not
normally on television.”


So, it became that, and so the second series was even more about
that, and then the special that we did was almost totally aimed
at, we need to tell these stories because there are so many
people in this country who this story isn’t being told for them.
And it so happened that Joey hit puberty and had some very, very,
very problematic behaviours, sort of self-harming behaviours, it
happened quite close to her being diagnosed, so we thought this
story is just written for us. Joey’s written it for us. So, we
just sort of wrote down what happened. That was sort of what it
was. And then obviously the response to that was very good. So
yeah, and we wanted to feature Unique ‘cos that was such an
important part of what we’d been through.


So yeah, it went from me wanting to further my career to that
having nothing to do with it, and me wanting to [laughter] tell
the story of children with rare chromosomal disorders and
learning disability, and that’s what it became.


Naimah: I’m sure it must have been almost quite cathartic, I
imagine, in a way, to share your story that way, and also, you
know, give you a real sense of accomplishment to be able to kind
of share your story on that platform. Like you said, like it’s
never been done before in such a way, and to get that kind of
response from other families, it must have really just helped you
both in your journey as well, I can imagine.


Shaun Pye: For me, because it’s what I do for a living, it still
retained a certain sense of my job. And, you know, emotionally,
obviously, entirely committed to it. All the bits that make you
sort of cry, or all the bits that are like, oh my god, Sarah
wrote – I wrote all the stupid bits that David Tennant says
[laughter]. So, I think it was more cathartic for you. You really
had to dig deep into some quite unpleasant memories [laughter].


Sarah Crawford: Yeah, it wasn’t always the most comfortable
process, you know. We’d sort of agree – I mean, particularly in
the earlier process, we’d sort of have a little think about what
we wanted to talk about, and then I’d go off and like kind of
delve deep into memory, and just type a stream of consciousness,
and I’d be sitting there sobbing [laughter], you know, with tears
rolling down my face, you know, just reliving these really awful
experiences. But yeah, I think the end process ended up being
cathartic, and a lot of that was stuff that I would never have
imagined sharing with anybody [laughter], let alone, you know,
this huge audience of people, which – yeah, strange how things
evolve.


Shaun Pye: Yeah, I think possibly if we hadn’t done this then we
might have just tried to not think about these things and not
bring them back, and I think we probably wouldn’t have spoken to
each other – we may have, I don’t know. I don’t know what would
have happened. But I don’t think these things would have come out
into the open. And very interestingly, another side aspect of it
in the catharsis way is the effect the programme had on the wider
family. There were certain members of the family who were really
shaken by that programme, really shaken, because they had a set
view. Even as Joey got older, they had a set view of the history
and what had happened, and they were really shaken by the idea
that their – out of love again, there’s nothing bad here, but
they were really shaken by the idea that their actions had a
detrimental effect on us when Joey was born.


You know, there were people saying, “Well, I didn’t say that
there was nothing wrong with her,” and, “I didn’t say this or
that,” but actually when you see it presented in the programme
then there was a lot of re-evaluation that went on, in a good
way, in a positive way and it’s all good.


Sarah Crawford: I think there’s something about seeing it, you
know, and especially given, you know, we were so fortunate with
the cast because they’re so good at portraying it. And I think
there’s a power in seeing things played out rather than just
hearing about them in the abstract.


Naimah: Yeah, definitely. I definitely had moments of crying and
laughing, and a range of emotions while I was watching it, so
yeah, definitely very powerful. And I guess it’s really great for
other families going through similar circumstances, for their
families to see what’s happening and, you know, there’s a lot
that can be learned from the programme as well. So, you know,
it’s, yeah, really a powerful piece that you put together.


Sarah Wynn: I would really like to echo that. I think Shaun and
Sarah have said before that they didn’t do it to represent
everybody’s experience, but actually that is exactly what it has
provided. I would say that huge numbers of people are really
grateful that that portrayal is there, so that they can be seen
and heard and understood so brilliantly. But it has provided
other families with the opportunity to show it to their friends
and family, so that they understand their life as well. And so I
think it’s had a hugely positive reaction from our Unique
community. And I think it’s not always an easy watch, I think
lots of families would say it’s challenging to see it up close in
front of you, but I think it’s really cathartic and has been just
incredibly powerful at showing these sorts of stories, which, as
you said, just don’t get shown very often.


And I think particularly when we think that rare conditions,
although they’re individually rare, if you put all of the rare
chromosome conditions together, they’re not actually that rare,
so these are stories that are going on up and down the country
and all over the world.


Shaun Pye: Just to follow up on something Sarah said earlier on
about, you can take as much or little as you like from Unique,
it’s the same with the show. I’ve had lots of people get in touch
with me or talk to me in person and say, “I’m really sorry, I
tried to watch ‘There She Goes’ and I can’t watch it,” and I have
to say, “Don’t apologise, you have nothing to apologise for. You
take what you need from it. If you can’t watch it then don’t
watch it. If you can watch it then do. There is literally no
right or wrong way of doing this. There really isn’t.” But having
said that, the nicest comment – well, one of the nicest comments
I’ve seen was on the DYRK1A forum. It was someone who casually
referred to it as “our show,” as in the DYRK1A community, it
belongs to them, and that – yeah, a little tear, a little tear
went down my face [laughter].


Naimah: Yeah, that must have been a lovely thing for you to read.
That’s really nice.


Sarah Wynn: Also from the Unique and general people who have rare
conditions community, it’s been so fantastic for raising
awareness about genetic testing and rare conditions in general,
and, you know, there just isn’t – because these stories don’t get
talked about or shown about very often, it’s been really great
from that point of view as well.


Naimah: And hopefully this will be the catalyst for similar
programmes and, you know, more things in the mainstream media as
well. And you did touch on it briefly there, Sarah, about, you
know, what the programme’s meant for Unique, you know, and the
Unique community being very supportive, but have more people
reached out to Unique since the programme?


Sarah Wynn: I think the main takeaway is that being heard, “Our
family’s being heard and represented,” which I think is really
important. But yes, we’ve got lots and lots of new families that
have come to us through watching There She Goes. And it was
really fortuitous that when the special aired last spring/summer,
it was the evening before our awareness day, which I think was a
complete coincidence but actually turned out to be really great
timing. So, we got lots and lots of new families get in touch
with us, many of whom then went on to join us. But actually what
it also did was get lots of members who’d been members for a long
time but perhaps had been a bit quiet, or hadn’t been in touch,
so it sort of also reinvigorated that engagement from other
members who we might not have heard about for ages, and who might
have got older children and had been in touch at the point when
they were diagnosed, and then hadn’t been.


So, it has just been such a brilliant, brilliant experience to
have Unique as part of it. And I think that’s really important.
At Unique, we have members from 120 different countries, and the
reason is that when you have these rare conditions, you’re really
unlikely to find someone in the same town as you, possibly not
even the same country with some rare conditions, and so the idea
that you can connect with people all over the world I think is
really important, particularly in rare conditions.


Naimah: Yeah, that’s great, and hopefully, you know, it just
continues to increase support with Unique and, you know, families
know they can still come to you as a resource and as that
continues. So, I just wanted to kind of wrap up here and come to
the final question. So, you know, your story highlights a lot of
challenges, a lot of difficulties, a lot of ups and downs, but I
just wondered, Shaun and Sarah, if you had any advice for other
parents going through similar circumstances.


Shaun Pye: Yeah, I think one of the things is what I just said,
which is I would tell people there’s no right or wrong way of
doing this. I would say, from my experience, don’t be hard on
yourself, and you’re going to think that you wish it never
happened to you and that’s fine. That is absolutely fine. That’s
normal. We’ve all thought that. It doesn’t make you a bad parent.
It makes you a normal human being. I would say to get in touch
with Unique. I shied away a little bit from help and charities,
‘cos I think it was a sort of pride. I think I had a
preconception that it would be glass half full, put on a happy
smile, best foot forward, blitz spirit sort of. We have
encountered it a little bit over the years, not very much, but
we’ve encountered a little bit of, you know, “As long as you love
them, that’s the most important thing,” and, you know, which is
fine and that is an okay perspective to have, but there are times
when it’s just not what you want to hear. I want to be allowed to
feel the feelings that I’m having without feeling guilty.


So, I would encourage people to seek support from Unique or from
wherever. But, you know, generally, the thing I’ve learnt about
people is that the vast, vast majority of people are nice and
kind and understanding about this. Not everyone, but most people
are good people and, you know, people should remember that, I
think.


Sarah Crawford: Yeah. I mean, the first thing I was going to say
in terms of advice to other people was something Shaun said
already, which is the don’t be harsh on yourself, because, you
know, you’re allowed to find it difficult. But I would also say
it’s okay to grieve the child that you didn’t have that you
thought you were going to have. I just think that’s so important.
And I think for me, the most difficult thing in the early couple
of years was feeling like I couldn’t do that because nobody
appreciated that I’d actually lost anything. The world seems to
use the word difference a lot at the minute, you know, “These
children are different, they’re differently abled,” but actually
it is disability [laughter], and it is more difficult, you know.


There are rewards, there are positives, but, you know, she’s 17
and a half now, our daughter. When our son was 17 and a half, you
know, the challenges were different, but they were also nowhere
near as big [laughter], and I don’t think that should get lost.
Because I think parents need to feel it’s okay to get the help
they need and to push for the help they need, and not feel like
they’ve just got to kind of put on a brave face and, you know, as
Shaun was saying, the attitude sometimes of, “Well, you’ve just
got to get on with it.” Because while you do, actually, you know,
you do need help to do that. It is difficult.


Shaun Pye: The only other thing I’d say is, just ‘cos Sarah just
mentioned it and it gets forgotten, is the siblings thing. The
families with Unique will have all manner of different
configurations. I can only speak from our own experience, but
Joey has an elder brother, Frank, who is, well, in my opinion,
the best human being in the world [laughter], and I’m sure in his
mother’s opinion as well, but my experience, never forget about
the toll it takes on siblings. ‘Cos Frank is a very, very loving
brother. Only last night, Joey was typing, “Frank book.” ‘Cos
he’s gone to university, she likes looking at pictures of him in
the photo albums. She likes looking at pictures of old toys
mainly.


Sarah Crawford: Yeah, yeah, she likes looking at her as a baby
and the toys they had.


Shaun Pye: Yeah, but it’s not really advice, it’s just, you know,
there’s a danger that Joey could have taken over our entire
family life, and especially Sarah made sure that didn’t happen
and that, you know, we were a unit and he was – but, you know, it
is possible that it can swallow up your entire life.


[Music]


Naimah: Okay, so we’ll wrap the interview up there. Thank you so
much to our guests, Shaun Pye, Sarah Crawford and Sarah Wynn for
joining us today as we discussed Shaun and Sarah’s journey to
Joey’s diagnosis, and how charities like Unique can support
families of those living with rare conditions. If you’d like to
hear more like this, please subscribe to the G Word on your
favourite podcast app. Thank you for listening. I’ve been your
host and producer, Naimah Callachand, and this podcast was edited
by Bill Griffin at Ventoux Digital.