OK so would you say the Stickler’s is more of an issue than the cleft?

Yeah.

Potentially yeah?

For us yeah. I mean everything’s calmed down now.

But to put it in perspective it’s?

Hmm… yeah that’s, weve had more issues with her with the Stickler’s than we have with the cleft palate.

OK yeah.

Yeah the cleft palate was fixed at six months.

And that’s kind of?

That was kind of it really. And then the Stickler syndrome is… taking over a little bit.

Yeah I can imagine, yeah.

So again that adds to our list of clinics that we visit, [laughs] because we have to go to the eye hospital quite a lot.

Have you been told about any potential surgery when shes older, teenage years?

No weve only… I mean the only thing that she will have to think about is when shes older and thinking of getting married or anything, is the fact that she has 50% chance of passing her Stickler syndrome on to any children that she has, so she would need to be aware of that when she was older. I mean that’s quite a big issue for her. I mean we didn’t know, so we just had two children. She might decide… Am I going to have children or am I not? That will be her decision.

OK so there is a slight risk?

Well it’s a 50% chance.

Sorry, 50% of Stickler’s?

Of Stickler’s.

Oh sorry yeah, I’m getting confused. The Stickler’s is 50%?

Yeah.

And the cleft is?

And the cleft could be… it’s either/or I think, you know, from having a child with Stickler’s she could have a baby with a cleft or she couldn’t, or she could have a baby that’s very short-sighted like herself, or a baby with hearing issues, or a baby with hypermobility.

So we had about three hours to wait for her. I went down to collect her, and one thing I wasn’t told was, because it was palate, her voice would change.

OK.

So when I walked in I could hear a baby crying but I didn’t know it was my daughter.

You didn’t recognise her?

Didn’t recognise her. So when I went to find her, she was the only baby crying and I went, Oh shes changed. I mean visually she hadn’t changed but… her cry was completely different: it was a lot deeper.

OK that’s interesting yeah.

Yeah so now if I meet any other mothers who are having a palate operation I will say, Just, just be prepared that the cry will change.

Hmm yeah I hadn’t heard that before.

Hmm.

So yeah, OK. So what was that post-op period like? You mentioned that they need to eat yoghurt and stuff. How long is it, because at six months would your baby have been weaned at all?

She, I’d started to wean her. It was very, very difficult, very messy. I could get some soft food into her, and I’d taken yoghurt with me, and she was taking pureed fruit and vegetables. But because her mouth was sore she didn’t want really anything in her mouth. So I for the first, I think day and a half, I fed her with a free flowing cup. Because rather than squeezing the liquid into her I could actually just drip it in, which was much nicer for her. And eventually, I think two, three days later she was back onto her squeezy bottles, which didn’t last long, probably about a week. And then she came off painkillers then as well, and then she was back onto her free flowing cup.

OK so within a couple of weeks?

Yeah, yeah she, yeah, she bounced back quite quickly. But then I also think hers was only the soft palate as well; it wasn’t the full hard palate from front to back. It was only a small area.

Yeah OK.

And she liked yoghurt.

Yeah that’s nice. That’s a good plan.

Yeah [laughs] it was nice and cold on her mouth where it was sore.

So reflecting on your own experience, what kind of lessons do you think could be learned from having a late diagnosis?

I think any… health personnel needs to be aware that there are other reasons why a baby might not be able to feed. And in some areas a mouth check is not included as a postnatal check. They do all the other checks, check hearts, livers, hips, you know, check the baby’s head, but they don’t actually look inside the mouth in all hospitals, which I don’t know why. But it’s now part of the foetal anomaly screening that they’ll check for a cleft lip, but you can’t check for a cleft palate. They will, if there is a cleft lip there, they may say the palate might be involved, so they do it about 20 weeks.

So they’re still only looking for the visible?

They’re still only looking for the visible. But I think it’s very hard to see a cleft palate. I’m not sure whether they can find them at 4D scan either. But if… if there is a problem with feeding, why isn’t the mouth looked inside straight away?

It’s bizarre.

When I think back, yeah, when I think back I was given, you know, Keep trying. Try a breast pump, express and well feed the baby for you. You’re not doing it right. The baby is lazy. The baby is still sleepy from anaesthetic, so all those things, and all it could have been, you know, was a quick look in the mouth. But I will say, from my last talk that I did, I met one of the midwives who helped look after me in hospital, and she actually says, If I ever see a baby with milk all over their face again making a clicking sound, I’m going to look inside their mouth straight away. So just from her looking after me for one four hour shift, or six hour shift, shes now more cleft aware. And then I think of one other midwife, who had been a midwife for 26 years, and only ever delivered one cleft baby in 26 years. So that’s

That’s the level, yeah?

That’s the level, yeah. And some of the midwives only work part-time, some only work evenings, do the night shift.

That’s true yeah.

So they have no, they have no opportunity. Which is why, when [daughter’s name] was born, I didn’t mind whoever came to look inside her mouth to have a look to see what one was. And the same with health visitors: they have the other issue where they’re not allowed to examine a baby but they can advise. So they can’t look inside a baby’s mouth, but if their mother says, I’m having problems with feeding, they can suggest maybe get an appointment with the doctor and get the doctor to look inside the mouth.

And in your experience, how aware are GPs?

My GP was very good. She was quite aware of it. And another GP, when I took [daughter’s name] for just a random appointment, had actually looked up Stickler syndrome on the internet so he was ready for us when we turned up.

Oh OK.

So there are, there are, you know, some GPs are very, very interested in what’s going on, and learning new things. And the same with health visitors: I’ve had very good responses from them too.

And so nationally what kind of level of care would you like to see?

I just think I would like all midwives to be told to look inside a baby’s mouth as part of a postnatal check. Because I think if a mother is having problems feeding it’s not just the fact that they don’t know what they’re doing, it could be something else. So it’s being more aware of that, I think. Because I think late diagnosis is something that I… I was touched by, and I know other families have been touched by it where they’ve had to… they’ve waited longer than 24 hours to be diagnosed.

Yeah.

And everybody, you know, all nurses should be taught to have the right equipment there. Because when [daughter’s name] was diagnosed the only torch they had was in a DIY kit. They didn’t even have a hand torch to have a look in the baby’s mouth.

OK so

So just having a little a kit there ready with, you know, mirrors, tongue depressors, and being shown how to look inside a baby’s mouth properly.

So reflecting on your own experience, what kind of lessons do you think could be learned from having a late diagnosis?

I think any… health personnel needs to be aware that there are other reasons why a baby might not be able to feed. And in some areas a mouth check is not included as a postnatal check. They do all the other checks, check hearts, livers, hips, you know, check the baby’s head, but they don’t actually look inside the mouth in all hospitals, which I don’t know why. But it’s now part of the foetal anomaly screening that they’ll check for a cleft lip, but you can’t check for a cleft palate. They will, if there is a cleft lip there, they may say the palate might be involved, so they do it about 20 weeks.

So they’re still only looking for the visible?

They’re still only looking for the visible. But I think it’s very hard to see a cleft palate. I’m not sure whether they can find them at 4D scan either. But if… if there is a problem with feeding, why isn’t the mouth looked inside straight away?

It’s bizarre.

When I think back, yeah, when I think back I was given, you know, Keep trying. Try a breast pump, express and well feed the baby for you. You’re not doing it right. The baby is lazy. The baby is still sleepy from anaesthetic, so all those things, and all it could have been, you know, was a quick look in the mouth. But I will say, from my last talk that I did, I met one of the midwives who helped look after me in hospital, and she actually says, If I ever see a baby with milk all over their face again making a clicking sound, I’m going to look inside their mouth straight away. So just from her looking after me for one four hour shift, or six hour shift, shes now more cleft aware. And then I think of one other midwife, who had been a midwife for 26 years, and only ever delivered one cleft baby in 26 years. So that’s

That’s the level, yeah?

That’s the level, yeah. And some of the midwives only work part-time, some only work evenings, do the night shift.

That’s true yeah.

So they have no, they have no opportunity. Which is why, when [daughter’s name] was born, I didn’t mind whoever came to look inside her mouth to have a look to see what one was. And the same with health visitors: they have the other issue where they’re not allowed to examine a baby but they can advise. So they can’t look inside a baby’s mouth, but if their mother says, I’m having problems with feeding, they can suggest maybe get an appointment with the doctor and get the doctor to look inside the mouth.

OK and what kind of information did you get from, first of all the cleft nurse?

She gave us information about feeding, showed us how to feed [daughter’s name] properly. She told me that I could still feed [daughter’s name] myself and she said they could lend me a breast pump. Because there was a query about [daughter’s name] having Pierre Robin Sequence, she immediately said that [daughter’s name] was to sleep on her side, showed me how to do that, and she also provided a sleep positioner as well for when we came home to help with that. But quite quickly the nurse realised that she didn’t have Pierre Robin, but we still use the sleep.

What, within hours, or does it take longer?

Well it was probably by the end of the visit she said, just by looking at her. She gave her a really good examination and said, She probably hasn’t got it. But she also mentioned Stickler syndrome as well, because it goes along with having a small chin and having a cleft.

Did you have to have any genetic testing at all?

We had that later on. We waited probably until the following August.

OK.

But then it’s to get the appointment, because the geneticist team only have a paediatric appointment one Friday every month, so they only have 12 a year, so we had to wait for that.

And the fact that, you know, her chin dropped, so she definitely didn’t have Pierre Robin Sequence, which was good news.

OK so what was the time period before her chin dropped?

It was probably about six to eight weeks before we noticed.

So all that time there was this issue of whether she had Pierre Robin?

Whether she had got it or not. I mean the cleft nurse said, She doesn’t seem to have any other markers for it. She seems to be feeding better, and her, she could see that her jaw, as she was growing, was actually moving downwards, which was, which was good news.

So in that time what kind of information seeking did you do?

I think the second or third time our cleft nurse came to visit wed written, I think, two and a half sides of A4 of questions.

Really? Yeah.

And, you know, some of them very random to like will [daughter’s name] be able to speak properly, will she be able to hold a spoon, will she have any development issues, even things like well can she have a sleepover at Nana’s house? You know, things like that, you know, and environmental issues.

Really practical questions?

Yeah very practical. And then other things like how long will it take her to recover from surgery? So we had, I mean we sat down and we wrote lots of questions, and the cleft nurse took them and she was able to answer all of them, which was very good. I think the cleft nurse is amazing.

OK at what point were you aware that she had a cleft palate?

Well it was a normal pregnancy, had to have a caesarean because she was breach and wouldn’t turn, and when she was born she was fine, crying. They did all the basic checks, and it was within the first 24 hours that we realised that something was wrong. I was a second time mum, trying to feed her, and she couldn’t latch on properly: lots of noises, lots of mess. But I was told to keep trying by the midwives. And I was probably seen by about three or four of them as they changed shift pattern, and each one just gave me different advice. They watched me feed her. I was offered a breast pump in the evening. And during that day I did say , Please can I speak to the breastfeeding specialist midwife? because I knew there was one on the ward, but she was only available Monday to Friday, and it was during the day, and I asked for her about teatime, which was too late.

OK.

And she came the next morning, watched me feed [daughter’s name] and heard a clicking sound, which made her say, Can you just… can I just have a look at her again?

Yeah sure.

And then she did a mouth examination and told me that [daughter’s name] had a cleft of the soft palate, which was a shock to me: didn’t know what a cleft of the soft palate was. But thinking back, I do remember I met a little boy at a baby massage session with my son, and he had quite a large cleft lip, and I was confused because I thought the cleft was just lip, not palate as well.

OK.

But the team at the hospital were really, really good, told me everything would be fine. They rang the cleft unit in [place name] at 11 o’clock, and the cleft nurse came by 4.00 with her bottles and her advice and her leaflets.

OK so once the diagnosis had been made things moved on very quickly?

They moved very, very quickly, very quickly indeed yeah.

OK can you just tell me a little bit about that time, that interim period of giving birth and not knowing what was wrong, how did that feel?

It was very emotional because my husband wasn’t allowed on ward until midday, and fathers at the hospital that I gave birth in, that was the normal visiting hours: fathers were allowed on from midday till 8 pm. And I was told at 11.00 that there was a problem with [daughter’s name], so I had to wait an hour for my husband to come.

Blimey.

I also had a bay with three other mothers who were, you know, dealing with their caesareans as well, and I think to see me with probably the screens round me for quite a long time and then coming out in tears were wondering what was going on. But they were lovely. I knew one of the auxiliary nurses as well: she remembered me from when I had my son, and she was really, really good: she came and held my hand and things when we went to see the paediatrician. So I was bumped up, my appointment to see the paediatrician was bumped up so that they could have a look, check all the other normal checks. And [bell rings: brief interruption]. They came and took me to the paediatrician and they had a good look in her mouth and said, Yes it’s definitely a cleft palate, but we know that somebody is on the way, meaning my nurse.

And between you and your husband how much awareness did you have about clefts, and experience?

None.

None OK.

None: a very steep learning curve, very quick learning curve. Lots of Googling, which isn’t the best thing to do, but we went onto the CLAPA site.

OK at what point did you find the CLAPA site?

When we were given the leaflets in the hospital from our cleft nurse. She actually pointed out that CLAPA were a charity that were available to us, especially where bottles were concerned. Because shed brought our gift of bottles, but she said, You are allowed to apply for some more, so you just need to ring the site and then they’ll send you some more bottles out to feed.

OK and what kind of information did you get from, first of all the cleft nurse?

She gave us information about feeding, showed us how to feed [daughter’s name] properly. She told me that I could still feed [daughter’s name] myself and she said they could lend me a breast pump. Because there was a query about [daughter’s name] having Pierre Robin Sequence, she immediately said that [daughter’s name] was to sleep on her side, showed me how to do that, and she also provided a sleep positioner as well for when we came home to help with that. But quite quickly the nurse realised that she didn’t have Pierre Robin, but we still use the sleep

What, within hours, or does it take longer?

Well it was probably by the end of the visit she said, just by looking at her. She gave her a really good examination and said, She probably hasn’t got it. But she also mentioned Stickler syndrome as well, because it goes along with having a small chin and having a cleft.