So at what point were you put in touch with what they call a multidisciplinary team, where you have the preoperative stage of treatment?

We went to see people, it’s quite quick after they’re born: it was maybe six weeks, six or eight weeks.

OK.

I had an appointment in [place name] and there was a cleft nurse there, my cleft nurse that I see, theres speech and language, theres the dental team and theres the surgeon.

Yeah, I understand you meet them all at one time?

Yeah they’re all in the same room together. So you go up, we went to [place name] it was the nearest outreach clinic to here. They have a look, they see how everything is progressing and they explain their role. So that you will see them obviously at different stages as your child grows up, so they all explain their role. The Surgeon explains everything about the surgery. And obviously if you’ve got any questions and things like that he explains exactly what’s going to be done. So it sort of puts your mind at rest; you have some sort of idea. He draws a little diagram and everything of exactly what would happen, so we could take that away.

But theres so many hospital appointments, it’s literally yesterday I had two, tomorrow I’ve got one, it’s, it is a lot. And they all seem to come at once: they’re like every three to six, and they roll on a cycle like that. So all of a sudden you’ll get… the beginning of August, within four days I had two separate appointments in [place name] I had to get all the way to and back.

Yeah.

And then theres the local ones in amongst that a week later, and it all comes at once. And at first her dad wasn’t working, so I was getting him to take her, and look after her when she was ill. Because she… when they’re younger they seem to get a lot more coughs, a lot more colds than… average children and she was off a lot. And then he got a job, and that was it, I… it was… even though, you know, she didn’t have the tubes or anything anymore, with all the hospital appointments and things like that I was constantly taking time off work. So when I got pregnant with Tay they were like, We can’t afford to keep you on, which I could understand in a way because to them it’s like, Shes going to need even more time off going for scans and things like that. But it was hard because I’m thinking, Now I’ve got no job. I’ve got… I’m going to have another child. So in that… it scared me, absolutely terrified me. I was living with my sister: we lived together since… since we left home weve always had a flat together. And there wasn’t going to be enough space, so it was like, Now I’m going to have to move out on my own, I’m pregnant, and it was terrifying at the time. But it’s… everything works out I suppose: just difficult in the beginning.

So there must be a financial cost as well?

Yeah.

How do you get to the appointments and?

I didn’t know until Tia was about just over 2, just about 2 ½… the health visitor got involved a bit more heavily, because there had been something that had happened with her dad, and the health visitor came round. And then she found out about all the problems and things and she basically advised us of all these things that we could apply for.

Right.

And she explained about the Disability Living Allowance and she filled out all the forms and sent it off, and Tia got that awarded at the middle rate, at the care component. And that helped dramatically towards… because it is expensive getting to the hospitals. You do get them refunded if you’re on benefits, but you have to remember to take all these different things, and sometimes they don’t accept what you’ve taken and it’s a bit of a nightmare. Because the worst is when we have to go to, because it’s [specialist hospital] it’s like £40 something on the train and you’ve got to find that money in advance. Even if you are going to get it back, you’ve got to find that.

Book your ticket.

Book it, pay for it yourself and then get it refunded once you get to the hospital. And when I first had Tia that was a… very difficult for me: just on normal Income Support with the Tax Credits it was impossible. And it used to scare me trying to scrape the money together to get to the hospital appointments. So when I got the Disability, it helped massively. But in my eyes it was… it was difficult, because to me shes not disabled.

Yeah.

So it was like… swallowing your pride. It’s kind of like you’ve got to swallow your pride to accept this money.

Theres a labelling of your child?

Yeah that’s how it feels, yeah, and I didn’t want to put that label on her. And it’s like I had to swallow my pride because, in the end, you know, it benefits her and she has a better life from it. But then even with my son, I didn’t apply for it for a very long time: I didn’t [laughs] want to. Again it was the same thing: I didn’t want to do that, it was not something I wanted. I’m thinking, It’s going to get better, it’s going to get better, and then in the end it wasn’t.

And then when she was born there was a lot of people in the room, and she had a cord round her neck, her heart rate was dropping, it was quite low: they thought they were going to have to do a C Section. So they had a consultant in the room, and like the thing at the back to put the baby on when she was born to make sure everything was OK with her breathing. And immediately I heard them say, Shes got a very small chin.

Right.

And I was thinking, Shes a girl; she doesn’t want this big sticking out chin. I didn’t understand what they meant.

And then I just heard the midwife shouting at the doctor in the hallway saying, If you’re taking the baby away to special care you need to go and speak to the mother about it.

Yeah.

And at this point I’m a bit confused; I don’t know what’s going on. All I can hear, he comes in and says, Shes got a very small chin, we need to get her to the special care unit. But you don’t understand. You can’t imagine what could be that bad [laughs] about her chin. My sister shouted at them and made them let me hold her, but it was literally for a second. I didn’t get to take anything in, I didn’t notice anything, and they’ve just taken her straight away. And it was about an hour or so later that a doctor came to speak to me and he just explained she had a cleft palate and a small lower jaw. And obviously at this point I thought, Oh my dad had a cleft palate, so that’s fine, I know that, you know, theres nothing wrong. Shes not going to die or anything. It’s not major. And that was all they said. They literally went straight away again.

Yeah.

And I was left, I think it was three and a half hours before I got to see her, because I’d had an epidural so I couldn’t walk, and the midwives were busy dealing with other people. And when I did get to go and see her, the first I thought was, She has no mouth, because her jaw was so far back I couldn’t see her mouth at all.

OK yeah.

I thought, How am I going to feed her? This is really scary. And then… obviously later on I saw her crying and that, and it was like this massive relief: she did have a mouth; there was something there. Her cry was very funny: it sounded like she was going, Arragh, arragh, and that was the first thing I heard when she was born. And then… I had… the next day the, the consultant came to speak to me and explained what PRS was, and he brought me this page out of a really old medical book, which was the only thing he could find, a photocopy. And it was just like, I’m trying to find you a picture to prove that her chin will come forward. I’m trying to find you, you know, something a bit more helpful than this, but they didn’t have anything.

Totally unprepared then?

Yeah because it’s rare and they’d never seen it, I suppose. And at this point I could see why her scan

What sort of hospital were you in at the time?

The local hospital here.

OK hmm.

And she was kept here; she was managed here the whole time. The cleft nurse came out the day after she was born and that’s when a bit more was explained to me, that because her jaw was small, her chin, her tongue was also small, and it would cover her airway. There was a lot of noise when she was breathing. And they explained she had to be nursed on her stomach; she couldn’t lie on her back because it would drop back and block her airway. There was a feeding tube, so I was explained she wouldn’t be able to suck very well, and we were given the squeezy bottles to feed her with.

The feeding tube was horrible. I didn’t want to learn how to change it myself; I was terrified of it; it scared me. So though I’d feed her with it, I couldn’t pass it myself. And she learnt to sneeze it out, like she had this sneeze where she could force it out of her mouth. And so you had to take her to the hospital or get the community team to come out and change it, and if they were busy you were left hours not being able to feed the baby.

Hmm distressed baby?

Yeah she started refusing to drink even with the squeezy bottle. She just stopped drinking milk, so it literally was all NG tube feeding. And where she was sneezing it out, sometimes I was sat in hospital for three hours waiting for a nurse to change it. Sometimes that would be shed do it in the evening and you’d be left all night and having to wait for somebody in the morning to come out. So it was hard work because you don’t want a baby crying all night because you couldn’t feed them.

So it was a 24 hour operation?

Yeah. And then her dad learnt to do it. And after we split up, I’d have to ring him all the time, You need to come and change the tube; it’s fallen out again. And whatever he was doing, he was really good about it: hed come and do it. And then I think when she got to about seven or eight months I thought, No, this is getting silly. I’m going to have to do it myself. So they showed me how to pass it and everything, and I learnt to do that. It made life a lot easier. But she screamed and you had to tie her arms with blanket underneath her so she couldn’t whip it straight back out again: it was really difficult.

I think when she was 2 or 3 we went up and saw them all again, and we go and see the specialist speech and language team from there as well. And then… I don’t know, now, she was seen by the speech and language, and were going for an appointment tomorrow in [place name] to see how her palates working, because they’re not… she has a lot of air come down her nose sometimes, and they’re not sure whether that’s a bad habit shes got into.

OK yeah.

They think some of it probably is and some of it’s where it’s just escaping where it’s not quite closing properly at the back.

OK I understand yeah. So shes just had the one op?

Yeah just one.

And so in terms of looking towards the future, is she expected to have any more surgery or?

For the palate it will depend on the results of this videofluoroscopy tomorrow, so they’ll see if it is air escaping because it’s not closing properly. And then it will be a decision whether it was something that needed an operation or something that I thought she could manage and just live with, and maybe when she was older she could make that decision. Weve got Stickler syndrome, which is what has caused the PRS, and that… we need an operation on her eyes as well. So that will be something that she will need to have done.

I was just wondering about the other services which get involved in cleft?

Yeah.

Did she need any speech therapy?

She had speech therapy. It was quite difficult to get it locally; I’ve had a battle with them. She was referred from the cleft service speech and language, which we see once a year maybe, maybe six months, it depends how they find her speech. And she was referred about two years ago locally, and we only got seen at Christmas.

Right, so theres a bit of a backlog?

Yeah and then when we did get seen they said, Oh weve got a major pile-up, basically, and were just trying to get people off our books. So I think were just going to… let you go and refer you back to the cleft team.

So even though shes a PRS baby

Yeah.

theres no priority?

No, well I argued with them. I said because of the cleft as well she wears hearing aids.

Oh she is wearing them?

Yeah.

I was going to ask about that, yeah.

Yeah she has hearing aids because she has

In both ears?

Yeah both, because, just because of fluid build-up.

Does she have grommets?

No. That was their… they suggested that hearing aids were probably best because the grommets come out. And when I looked into it I thought it’s another surgery to put her through. And I know somebody that had a child, not with a cleft, but they had grommets, and they’ve had three operations and they just keep falling out.

Yeah that’s quite common, isn’t it?

Yeah so I didn’t, I didn’t really want to keep putting her through that.

Yeah sure.

So shes got the hearing aids. So I was obviously angered at this point that she has hearing aids, as well as the cleft palate, so it’s two different problems that are making it harder for her speech.

Yeah.

And by arguing with them I managed to get her seen once more to be assessed. And after that assessment they agreed that they would keep her on their books but sort of… part-time-ish, I guess. It’s not… they’ve given me some things to try at home. And then we went back and saw the cleft team July/August, and they said… they referred us to have this videofluoroscopy because of the air escaping, and said that, for her age, her speech is very good. The words that she can say like have been measured on par with like an 8 year old, the way certain things are said.

Oh really? Hmm.

And her vocabulary is very good. It is just this air, it’s like a snorting sound when she says things like fish, like the sh’ comes out as a snort. But other than that, yeah, you wouldn’t… nobody could tell that shed had a cleft palate just by talking to her or seeing her really. So it is quite… it’s good. You don’t… you don’t notice.

But it’s… seeing her straight after her operation, when you walked down to recovery, she was sat on the bed playing with the nurses.

OK.

You couldn’t believe it. The minute she saw me she cried because it’s like shes in pain and she wants mummy or daddy, and she cried and we gave her a cuddle.

Very brave.

Yeah shes really, really brave. And they’d never seen anything like it: she drank more than shed ever drank from her bottle within 45 minutes of this operation, of coming round.

Gosh.

And they couldn’t believe it, she just drank, drank, drank, drank.

It’s incredible, isn’t it?

Yeah it was like a different child. You couldn’t believe how quickly it had changed. She only stayed in one night. The morphine made her quite ill overnight, but the minute they took it off she was fine, and we went home the next day. So it was a lot better than I’d been building up to in my mind. Because you think, you get told, because of the PRS, theres a high risk they’re going to need to go to the HDU.

Yeah so theres a high risk of complications I imagine.

It’s because of the airway, yeah, the airway gets blocked and swollen so it becomes difficult for them to breathe again. But she had… nothing; she was absolutely fine.

And what was the aftercare like once you got home? How did you manage?

You get given all the leaflets when you’re in hospital: what they can eat, what they can’t eat, and then after X amount of weeks that changes and then you can introduce different foods, so you’ve got all that. Then the cleft nurse comes out to check and see how it’s healing. They’re always at the end of the phone, so if I had any questions or concerns: pick up the phone and ring her straight away and she comes, shes usually there within the next day or two. If it’s urgent shell try and make time to come straight away or go to the hospital. So it was brilliant. After the operation you don’t see the cleft nurse very much though.

OK yeah.

I think it’s… I can’t remember, a few months after you go up and you see everybody again, in [place name] was where we went. And the surgeon checks it, checks that no holes have formed in it, checks that it’s working, Are you happy? Do you have any questions? And then it’s… that’s it really you’re passed on.

Stickler’s. It’s a connective tissue disorder.

Right.

And that’s what’s at the back of her eyes, all of our eyes, I didn’t know, or my family, we didn’t know anything about this until after my daughter was born.

Gosh yeah.

Not long after my daughter was born my sister went to [opticians] and had… like they take photos of the back of your eyes, and they said, You’ve got a lot of holes in them; we need to refer you to hospital. So that was another reason we got put forward for testing for the Stickler’s, because that’s a symptom of it.

Right.

So we would need to have cryotherapy just to try and stop our retinas from detaching.

OK yeah.

So that’s something weve all got to do.

But we had a routine appointment with the paediatrician the same day after the dietician and they found a heart murmur.

Right.

So now were waiting for the heart scan, which is another reason were going to [place name] tomorrow, because locally they couldn’t give us a heart scan either. They were too busy, were too fully booked.

Gosh, so is it definitely a murmur or is it a suspected?

No they said it’s definite, hes definitely got a heart murmur, but it could be innocent; they’re not sure.

Is that something to do with the syndrome or?

I wasn’t aware until I was… I went to, we went to see a geneticist a couple of months ago, from [Hospital name] and we saw them when Tay was quite small, and they just wanted to follow up how everything was going on, and they wanted to take some pictures for their reference and things. And she was asking about joints and things like that… [laughs] I’ve completely forgotten what I was going to say now.

About the heart murmur.

The heart murmur, yeah. And she asked me something about my joints, and I couldn’t remember what shed called it, because my joints are really painful at the moment from it. And I was trying to Google it, and I couldn’t remember what it was called, so I went onto Wikipedia, Stickler syndrome, to find out like associated conditions.

Yeah.

And there was something, a mitral valve prolapse, which is quite common with Stickler syndrome, and they don’t know why. And so I’ve literally just stumbled across it by accident, and then I was crying and I thought, This is awful. Because one of the things it said was it can be associated with sudden cardiac arrest, and I was like, Oh no, this is horrible. I wish I’d never read this. But the doctor did say, you know, it could be innocent. There are heart murmurs that are innocent, but they just need to follow it up to check obviously before they put him through surgery.

Yeah OK, so it could affect the anaesthesia or?

Yeah, I don’t know, that would be… they’d have to have a look, because hes having an ECG tomorrow, so hopefully.

So they want to make sure his heart’s healthy?

Yeah, before they put him through. And then as long as everything’s OK they’ll be able to book him for surgery, but that takes a couple of months. So it’s very late, which is worrying because you think how is it going to delay speech?

So at what point did you get sensible information, and how did you find that information?

It was when the cleft nurse came the day after she was born. They’re brilliant, they come with lots of leaflets. They didn’t have anything specifically about PRS.

Right.

But obviously they have all the leaflets about the cleft palate and the feeding difficulties and the special bottles and everything like that. And… shed obviously had babies that had PRS under her care before, so she explained everything to me about the chin, about how it all… how it made it difficult to feed, she had no suction.

Yeah.

So why we were needing to squeeze it and everything like that. And she was brilliant. They, they come regularly to check how everything’s going. They’re always at the end of the telephone. So if it wasn’t for her, I think it would have been a lot, lot worse, a lot harder to deal with.

OK, and did you look for support outside of that, outside of the nursing community?

Not when I first had her. I wasn’t really on the internet that much; I just had it on my phone. So it wasn’t until she was about a year old I found the I joined the CLAPA group on Facebook. And at that point somebody started a PRS group in England. Because they manage it very different in America: they’re given like tracheostomies and all sorts, they have jaw distraction, they do a lot of heavy surgery on them.

Is that quite a new thing, the PRS group?

The one in England has been going for a couple of years now I think. I’ve been on it since it started. Because everything you can find when you look online terrifies you. That’s why I stopped doing it when she was first born, because it is, a lot of its American, and it’s how they’re going to have this operation to pull their jaw out, and they put tracheostomies into their throats and things.