AOne experience of tongue reduction surgery

When Fred was born his tongue was larger than normal, but not huge by some BWS standards. When we expressed our concerns, the doctors said there was nothing wrong. However, over the next few months Fred’s tongue became much bigger until by 3 months he was looking quite strange. Eventually at 5 months my diagnosis of BWS was confirmed and shortly afterwards we saw a local surgeon. He said Fred’s macroglossia was mild and he didn’t want to rush into surgery.

We saw him again 4 months later and he still wasn’t sure. As I had already been in touch with Caroleen Shipster, a speech therapist with considerable experience of BWS at Great Ormond Street Hospital, he referred us to her. Caroleen stressed that just because Fred’s macroglossia was mild didn’t mean that he wouldn’t benefit from surgery. We also saw an orthodontist and surgeon from the craniofacial team. At this point the macroglossia appeared to be improving, so everyone advised us to wait and see for a few more months. However, in the meantime we noticed that Fred’s lower teeth were protruding in front of his top teeth. As we were concerned about this and the effects on Fred’s jaw development, we saw the surgeon again and he agreed with us that this was a good

indication for a tongue reduction operation.

Fred had his tongue reduction operation at 20 months at GOSH. The operation went very smoothly and the surgeon took 25-30% of his tongue away. Fred made a good recovery and we stayed 2 nights in the hospital. The first night he was very sleepy and wanted to sleep on my shoulder most of the time. He had his first drink of water the next morning and ate some mashed banana and custard in the afternoon. The next day and night he was much more fractious and wouldn’t eat or drink anything except jelly, and kept pulling at his stitches. However, once home he was much happier and lived on crème caramel and egg custard for the next few days. By five weeks post surgery most of the stitches had dissolved and the tongue looked great. Now, nearly one year one from his surgery there is no visible scarring and his tongue looks completely normal, as does Fred.

We had agonized for months trying to decide whether or not to operate. I know now we made the right decision.

Postscript

Fred is now nearly 12 and has perfect speech and looks really great. You would never be able to tell that he had had tongue reduction surgery. He had a brace when he was 8 to flick his top front teeth over the bottom ones which did the job in 6 weeks and he will also need to have some further orthodontic treatment in the next few years. We are very grateful to all the team at GOSH who were involved with Fred’s tongue reduction as it transformed his appearance, his speech and ultimately his life.

Living with BWS

In 2016 and 2017 a number of parents of children and teenagers with BWS took part in a story project for the UK BWS Support Group Website. The main aim of the project was to provide better information about living with BWS as new families are always keen to learn about other parents’ personal experience of having a child with this condition. The range and severity of features associated with BWS can vary enormously in each child as these stories illustrate.

The stories cover each child’s journey from pregnancy and diagnosis to the age at which their story is told. Although all the children in these stories underwent tongue reduction surgery for macroglossia, these stories capture how some of the other problems related to BWS (e.g. macroglossia, hypoglycaemia, hemihypertrophy, prematurity, exomphalos) have been addressed as well as telling us how the children have developed over time. Some of the parents and children’s names have been changed to protect their identity.

We are very grateful to these parents for their generosity in sharing their invaluable experiences, insights and practical suggestions with us.

Alice and her son, Ned aged 4 ½  

Ned is my third boy. My husband is 6ft 5in tall and my first two babies were born weighing 8lb 10oz and 9lb 11oz, so although I’m small and was absolutely enormous by 30 weeks, everything still seemed similar to my previous pregnancies. Then I suddenly became so swollen that I could barely bend my legs: I’d developed pre-eclampsia, something I now realise is not uncommon with mothers expecting BWS babies. I was admitted to hospital straight away, they monitored me, but then a few days later I had a major placental abruption, so Ned was delivered immediately, at 31 weeks, weighing a little over 5lbs. He was taken straight into intensive care and put on a ventilator, although luckily he seemed otherwise fine.

After a few days, they tried to take him off the ventilator but his blood sugar levels kept fluctuating and nobody could quite work out why. That should have been the first warning sign. Every time they’d try taking him off oxygen, he’d go downhill again and his blood sugars would get really low. ‘He’s such a puzzle,’ they kept saying. I knew there was something not right, and I had also started noticing that his tongue was always sticking out. One day I pointed it out to one of the consultants and the penny suddenly dropped for her. He also had a stork mark on his forehead, which went across his eye and small pits in his ear lobe, so together with the other physiological signs – large for his age and unstable blood sugar levels – it all added up. She requested a genetics test because she thought he might have BWS.

Of course, I then did exactly what she said not to do - which was to go straight onto google. Not surprisingly, that was horrendous. When the genetics test came back positive when he was about 9 weeks old, it was absolutely terrible for us, not helped by the fact that the doctors didn’t know if he’d suffered brain damage because of his low blood sugar levels. I’m from a very medical family, so I know doctors can be a bit doom and gloom but, even so, when they throw out phrases that stay in your head, they don’t always realise how powerful their words can be, because for them it’s more a medical issue than a human one.

Ned ended up staying on oxygen for the first 9 weeks, of which five weeks was on CPAP (Continuous Positive Air Pressure) and three was via a nasal canular, and he was in Special Care for a total of three months. At first, he was tube-fed and I tried to express milk for him, but I soon gave up. To be honest, the mission was just to get enough milk down him so that he could come home. Life was stressful enough, with two other boys under five at home and a sick child in hospital, so I decided it wasn’t worth adding to it by persisting with breastfeeding.  So I switched to bottle-feeding although that too was difficult because his large tongue meant that he couldn’t feed properly. Looking back, I think I could have been given more support with bottle-feeding and the squeezy bottles that are used to feed babies with cleft palates would have been helpful.

His lungs and his breathing were a real problem. He had chronic lung disease because his prematurity meant his lungs were underdeveloped and also scarred from all the ventilation. Plus, we realised that he was aspirating fluid when he fed and that was going into his lungs. He was constantly gagging, throwing up and getting lung infections. Every feed took hours.

The first year, Ned was in and out of hospital with chest infections, pneumonia, bronchitis, you name it, all linked to his prematurity and his big tongue which was contributing to him aspirating. After the first year, though, things improved a bit, his feeding got easier, his large tongue wasn’t so obvious and the dribbling, which had been quite bad, was more under control. However, he was starting to develop speech problems, so in the end, when he got to about 18 months, we decided he should have tongue reduction surgery soon, partly because he wouldn’t be able to remember it if he was very young when it was done.

We saw the GOSH speech and language therapist, Caroleen Shipster, a couple of times before the operation, as well as the surgeon who explained that he would have to reshape the tongue because Ned actually had a tongue tie and hemihypertrophy on one side of the tongue so it was asymmetrical.

The operation itself went very well but Ned was really miserable for the first 24 hours afterwards and I couldn’t put him down for the first night. I had expected that, so I wasn’t too surprised. Also, there was quite a lot of blood! I was really firm with the nursing staff about pain relief, insisting that he had morphine for the first 24 hours so that he wasn’t in any pain at all. After they weaned him off the morphine, he was given Calpol and Nurofen, which he stayed on for about a week after.

Although Ned started eating and drinking soon after the operation, he just ate yogurt and eventually pureed food for the first couple of weeks until the stitches had fully dissolved. It’s important not to feed your child any foods that could get caught on them and to keep the mouth as clean as possible by gently squirting water into it to limit the risk of infection. I’ve got a picture of Ned standing up in his cot, the day after his operation, and he’s smiling, so he did recover really quickly – and after three days he was able to go home. Although the first 24 hours weren’t much fun, after that, I have to say the whole thing wasn’t as horrendous as I’d psyched myself up to think it would be.

My top tips? Take a sponge to wipe your child’s face and dye muslin cloths a dark colour so that you don’t see the blood in the first day or so! I’ve also realised that it’s important to stand up for yourself and your child. The NHS is amazing but you have to be on the ball, and if your gut feeling tells you something’s not right, make sure you’re heard and be firm because they can’t always be on top of everyone and everything.  

The tongue reduction operation was definitely worth doing. Ned now only has problems with gagging if he has a terrible cough but he doesn’t aspirate any more. He only has a slight lisp, something many young children do anyway and then grow out of, so we don’t see a speech therapist, plus his language is very good. Although his tongue is thicker than average, no one would notice unless he tried to stick his tongue out. He’s not in the risk group for developing Wilms tumour, so the only thing that bothers me now is that, although he’s very slim, he is big for his age. People are always surprised when I tell them how old he is, so I wouldn’t want him to be self-conscious about his height, even though his brothers, dad and grandparents are tall as well. We hope the growth will slow down in the future – which apparently it usually does.

When he was first diagnosed, I found that being able to talk to someone was really important, and I also contacted people through the big Facebook group that now exists, not only in the UK but in the US and Australia. We’re very open as a family, we talk about him being in hospital when he was little and I will talk to people about BWS around him so that he’s aware of it. I feel that so many of us have something anyway, whether it’s asthma or short sight or whatever, that there’s nothing for him to be ashamed of. Ned is a very good-looking boy anyway (as his mother, I can say that!), he’s a lovely child and I have no worries about his development.

Kate and her daughter, Molly aged 8

When I look at Molly now, I wish I hadn’t worried so much about her when she was a baby. She has blossomed into such a beautiful, healthy little girl.

After two miscarriages I became pregnant again but had a major bleed early in the first trimester. After being told I’d lost the baby, it was confirmed that I was still pregnant after all. For extra reassurance and peace of mind, I decided to have extra scans to check that the baby was healthy. All the scans including the 12-week nuchal fold scan showed nothing abnormal and everything seemed fine. Then at the 20-week scan, the sonographer discovered something was wrong.  He showed us on the scan that the intestines of the baby were on the outside.  He explained that this was often associated with chromosomal abnormalities. After everything we’d been through, we were devastated, and immediately arranged for a second opinion at a London teaching hospital. We were told that Molly had an abnormally large head and abdominal circumference and that she also had an exomphalos, where the abdominal wall doesn’t fully close and part of the intestines/liver grow outside it. Eventually, after further scans, blood tests and an amniocentesis as I was nearly 40, we were told by a geneticist, that there was a high probability that our baby had BWS. However, at that time, the blood tests were inconclusive so the final diagnosis would be made after birth. This was the first time we had ever heard of this condition.

I was in complete shock at this point but I was advised by the doctors to go away and do some research on the condition. It was a very scary time and some of the information on the internet isn’t always medically sound. I then managed to contact Bob Baker of the UK BWS Support group and he talked me through his experience of BWS and he also put me in touch with families who’d been through the same thing as us, I don’t know how I would have got through that time without their support. Despite reassurance from Bob and the other families, during the rest of the pregnancy I was too scared to bond with my baby in case things went wrong.

Because of Molly’s exomphalos, I was booked in to have a C-section but four weeks before the due date my waters broke so I was rushed into hospital as an emergency. It was all very scary as I wasn’t prepared. I hadn’t packed my case, it was snowing heavily, driving was hazardous, and a bed for me at the London hospital where I was supposed to deliver was only found at the last minute. My advice to anyone who knows they’re expecting a BWS baby is: pack your case in good time because they often do come early! 

The delivery itself went well, though I made sure the doctors were reminded that BWS babies can have low blood sugar problems after birth and this can have really serious consequences. BWS is a rare condition that many general paediatricians and other healthcare professionals have often never heard of and they therefore aren’t aware of all the symptoms and health issues related to it.

Having not wanted to know the sex in advance, we were thrilled when we found out we’d had a little girl (partly because we already had a boy). After Molly was delivered by emergency C-section, I managed to kiss her on the head before she was whisked away to the Neonatal Intensive Care Unit. After four hours I was told she was about to be transferred to Great Ormond Street Hospital (GOSH). The Children’s Acute Transport Service (CATS) were amazing and they brought her to me so that we could have our first cuddle together, for about ten minutes, before she was taken away. My husband travelled with Molly in the ambulance to GOSH. She was operated on the very next day to repair her exomphalos. The operation was a success and although she’s got a small scar across her tummy, it’s a very neat one and has faded with time.

Three days after Molly was born, I was discharged from hospital and transferred over to GOSH where I stayed with Molly for the next two weeks whilst she recovered from her operation. It was during that time that the BWS diagnosis was finally confirmed, based on her features. She had prominent stork marks (called a nevus flammeus), on one eyelid, on her forehead, above her top lip and in her hairline at the back, another common feature of BWS babies. We didn’t realise that these would completely disappear over time. She also had an enlarged tongue (macroglossia) and a small indentation on one of her ears. The confirmation of BWS was really difficult for me to accept.  This wasn’t helped by being exhausted and hormonal, but GOSH were very supportive and even put me in touch with a psychologist based there so I could talk through my anxieties and concerns.

As well as her macroglossia, we discovered Molly had a tongue-tie, which I didn’t find out until much later. This may have been the reason she wasn’t able to suck properly which resulted in me getting blocked milk ducts several times and eventually led to mastitis. However, in the first two weeks, GOSH were really helpful and encouraged me to express milk initially so that Molly could be fed via her nasogastric tube, and then breastfeed as much as possible once the tube had been removed.

Just before her 2nd birthday Molly had her tongue reduction surgery. Although her speech and teeth had been unaffected up until then, and she was eating and drinking normally, we didn’t want to delay it any longer as she was starting to speak more and more. We’d met several times with Caroleen Shipster, the GOSH speech and language therapist who reassured us by showing us photos and videos of children who’d had the tongue reduction surgery and how well they had recovered.

Mr Dunaway, the craniofacial surgeon at GOSH performed her operation. It involved snipping the tongue-tie and reshaping and reducing the tongue (it had been larger on one side). It was a complete success. Just a few days after her operation, Molly attended a family party. I have a photo that I took of her where you can still see the stitches on her tongue but she’s otherwise fine, and her tongue doesn’t even look too swollen. The hospital wouldn’t discharge her until she was able to eat and drink. She lived on Frube yogurt tubes initially for about a week but once the stitches dissolved, things got much easier, and she progressed onto soft pureed/mushy food.

We haven’t looked back since the surgery.  It was the best thing we did for her and luckily she was young enough not to remember. It was horrible to watch her go through it at the time but her recovery was amazing, she has never had any problems with speech or her teeth, and she’s thrived ever since. Sometimes she’s self-conscious about her belly button because they had to create one for her when they repaired her exomphalos. I tell her she’s got a very special belly button whenever she mentions that she’d like one like her friends but I’m hoping that, maybe in the future, she will realise how special it is.

I realise how lucky we are to have been seen at GOSH which has a team of specialists for children who have macroglossia related to BWS. We now have follow-up appointments every few years which are reassuring. Molly is now eight years old and doesn’t remember her tongue surgery so we haven’t mentioned it yet, as even when she was a baby, her macroglossia wasn’t always visible because of her tongue tie. That’s not to say we won’t tell her one day, but we’ll decide when we feel the time is right. She does however, know about her tummy surgery because of the scar but we decided not to tell her about her BWS until she is older and we also made a conscious decision not to tell school or friends, as we didn’t want her to be labelled. We were also worried about the reaction of other children who can be quite cruel about perceived differences and we didn’t want to worry her at such a young age. Molly is very fortunate that the type of BWS she has doesn’t put her at risk of Wilms’ tumour. Her growth has now slowed down and her size is normal relative to her peers at school.

My advice to parents would be to tread carefully with the internet. There’s a website called Health Unlocked where the BWS group is monitored and controlled by the BWS Support group, unlike Facebook groups where some of the comments, postings and photos out there can be quite upsetting and inaccurate. Please bear in mind that every child with BWS is different and not everything you read will apply to your child.

When I think back to those early days of my pregnancy, I wish I’d known then what I know now about BWS and how much can be done for the children affected by it. Despite my fears at the time, Molly is now a very confident, active, happy and clever little girl who looks normal and has a very bright future ahead of her. We are very blessed to have her.

Rachel and her son, Raphael Aged 13

Raph is the second of my four children and was born on his due date, weighing 8lb 1oz. He had a large umbilical hernia at birth, like his older brother had, but in both cases the hernias became smaller on their own, so surgery wasn’t necessary. I now realise that these hernias are a feature of BWS.

When Raph had his 2-year check with the health visitor, I told her that he dribbled a lot and his tongue was always sticking out and sitting on his lower lip. I didn’t think it was normal but I thought it might just be his age and the fact that he was a bit of a messy eater. We were referred to the maxillo-facial unit of our local hospital where the surgeon told me that there was nothing wrong with him. He said: ‘it’s just a bad habit he’s got into and he needs a stern talking to!’ I came out of that consultation in tears because I knew deep down that something wasn’t right but I didn’t know who to ask to find out.

A little while later, I saw a documentary on TV about a boy with Down’s Syndrome who’d had tongue reduction surgery at Great Ormond Street Hospital (GOSH) so I went back to my GP and asked for a referral to see that surgeon. I had to insist and eventually I was referred. By then, Raph’s long and twisty tongue was making his speech quite hard to understand and he was coming up to his fourth birthday. He’d soon be in reception, in the big playground, and although he might be OK with the 4-5 year-olds, he’d be mixing with older kids and I knew what they could be like if they saw anything different about another child. Adults were also regularly making comments to him like ‘You shouldn’t stick your tongue out at me’ which used to really upset me.

In addition, Raph was drooling so much that every day he’d come back and his school jumpers were soaking wet. I had to go online to buy all these special, super-absorbent bandanas for him to wear, and I’d cut up his old school jumpers to make bandanas that matched his uniform. It was awful and I knew I had to get something done. That first surgeon we’d seen locally had said I’d be cruel to get anything done and that he’d grow out of it but I thought I’d be cruel to let him carry on like that. Imagine what it would be like for him as a teenager!

The first person we saw at GOSH was Caroleen Shipster, the speech and language therapist who is the lead clinician for the BWS Macroglossia Service there. She referred Raph to a geneticist. A blood test was done and it showed that he did have the genetic make-up of BWS which meant that he needed to be scanned for Wilms tumour as well. Although he’s now clear of that risk, it was a bit of a worry at the time because we were coming to BWS and its implications rather late compared to some families. After the assessment with Caroleen, we were seen in the BWS macroglossia clinic by Mr Dunaway, the craniofacial surgeon, by Mr Evans, the orthodontist and Caroleen. They all agreed that Raph would benefit from tongue reduction surgery.

Raph had problems with his teeth. His milk teeth were like tiny little pegs and really far apart. It also took up to five years between him losing a milk tooth and the adult one coming through. His lower jaw protrudes slightly (the correct technical term apparently is a reverse overjet and a class 111 malocclusion), but that’s a lot less noticeable now since he had tongue reduction surgery and he has got older.  His teeth are not aligned properly and he’s going to need a brace at some stage but, as we live in London, his orthodontic care is all being handled by GOSH which is very reassuring.

The tongue reduction surgery finally took place when he was four, which is quite late, but I can’t fault GOSH for how they looked after him. Obviously he was old enough to know what was going to happen but I told him they were going to try to help him with his tongue and he took it in his stride. I have to say, the nursing staff made his stay so relaxing that Raph, who is a big personality and is often in his own world anyway, was quite oblivious to what was about to happen. We were even given a room in their family hotel because I had had my third baby only eight weeks before and I was breastfeeding. They put a bed in Raph’s room for me, and my husband stayed in the hotel with our baby.

The operation itself went really well. The surgery made his tongue a lovely round shape, compared to the very long pointy one he had before. The hardest parts for us were not being able to see him straight away in the recovery room yet being able to hear him crying; and the moment when they put him to sleep. That was horrific, even though he’d been fine about it because they’d played a game where he had to blow up a balloon (that was attached to the mask that put him to sleep). He’d thought it was fun, but for me, it was very difficult emotionally. By the evening of the day he had his operation, though, Raph was sitting up, eating ice cream. That night his mouth was a bit painful, but it healed very quickly and we only stayed one night in hospital, which is amazing. He still remembers his stay but he mainly remembers all the pictures he drew in their art room, the ice cream he ate and the fun he had, which is a reflection on how good the care was. Quite soon after the operation, Raph was back at nursery. After the surgery, once his tongue had healed, he stopped drooling and no one commented on his protruded tongue any more.

Raph had to have regular speech therapy for a couple of years after the operation with a local therapist. He had a lot of speech work and exercises that we did at home for some years after. Certain sounds like S and F were hardest for him and occasionally he still has minor problems but, to be honest, his speech now is so clear that no one picks up on it and Raph is always in school plays and happy to take centre stage! He’s certainly not self-conscious in the least. We still see Caroleen every 2-3 years so that she can check on his progress. The only difference now between his tongue and other people’s is that he can’t stick it out too far beyond his teeth or lift it up over his top lip. As a result, he avoids certain foods like doughnuts, or adapts the way he eats so that he’s not too messy.

He actually loves the fact that he’s been to GOSH and is quite proud of what he went through. The main thing now is that he’s the biggest boy in his class – he’s 5ft 8in – so I’m hoping his growth is going to slow down, even though his size hasn’t stopped him from doing anything. Along with his two brothers, he eats us out of house and home and is a very energetic, spirited and good-looking boy with a brilliant personality. So for me, I know that having the tongue reduction surgery was best decision I ever made. 

Becky and her twin girls, Poppy and Daisy aged 5

After years of infertility and failed IVF, I finally got pregnant naturally with identical twin girls. We then found out at the 12-week scan that Daisy had an exomphalos (where part of her intestines were growing outside her abdomen) and would need an operation immediately after birth. This is a feature of BWS but we didn’t know it at the time. The doctors warned us there was a 50 per cent chance the baby had a syndrome, most likely either Down’s or Edward’s Syndrome and the latter is incompatible with life. As the babies were identical, it was therefore very likely they could both be affected, and that if it was Edward’s Syndrome they might not even survive the pregnancy. They offered us amniocentesis but we declined as it had taken us such a long time to get this far we didn’t want to risk the pregnancy with an invasive procedure.

Being an identical twin pregnancy with complications, the pregnancy was closely monitored, and at 21 weeks my symptoms presented as TTTS (Twin to Twin Transfusion Syndrome), where one baby takes more of the blood and nutrients from the placenta. Daisy was much bigger than Poppy and was producing excessive amounts of amniotic fluid (this is called polyhydramnios) so we were sent to one of the country’s leading clinics for TTTS. BWS pregnancies often suffer from polyhydramnios, so on reflection this, plus having one baby larger than the other were actually signs of BWS. By 27 weeks, Daisy was producing so much amniotic fluid that I had my first amnio drain, and over the remainder of my pregnancy a total of nine litres were drained from me over three separate occasions. This enabled the doctors to test the amniotic fluid and confirm that the babies did not in fact have Edward’s or Down’s Syndrome. By then, though, I was well into my third trimester.

The babies were delivered by Caesarean section at 35 weeks +4 days , with Daisy weighing 6lb 1oz and Poppy 4lb 14 ½ oz, a good weight for premmies! Daisy was immediately taken away and operated on later that day, and Poppy was also soon admitted to Special Care to help maintain her temperature. I never actually saw Daisy’s exomphalos, and my husband didn’t take any pictures, but I understand it wasn’t ‘huge’, and Daisy now has a little star-shaped belly button of which she’s rather proud. If she’d like to, I know she can have plastic surgery on her belly button if she’s not happy with it when she’s older. She’s still got a wider abdomen because her stomach muscles haven’t fused fully, so we avoid certain clothes such as trousers at the moment but she’s gradually slimming down around her tummy, so it’s very manageable. 

Her BWS took a while to be diagnosed because her tongue wasn’t obviously large at birth but I noticed after a few weeks (around her due date) that she kept sticking it out. When I googled macroglossia, I then realised how many other features she had that fitted BWS (she also had a stork mark on her nose and eyelid) and a tiny pin prick on her ear, so I pretty much diagnosed her myself. 

Despite her tongue, I managed, after a lot of perseverance, to breastfeed her. Because the babies were premature, they were initially both cup-fed anyway but, whereas Poppy eventually took to breastfeeding, Daisy had more difficulty latching on until I discovered that using a nipple shield helped. After that, I was able to breastfeed them both for six months which, now I look back, I’m amazed at!

The genetic confirmation of the BWS wasn’t made until Daisy was six months old after blood tests. I’d wanted the confirmation so that I could ensure Daisy got abdominal scans as well. In some countries, they don’t necessarily do genetic testing and they diagnose on physical features but offer scans to everybody. In the UK, scans aren’t necessarily offered for some genetic types of BWS so I had to pester to ensure Daisy had them, even though she has the lowest risk of Wilms’ tumour. 

The paediatricians at our local hospital weren’t familiar with BWS, so it took a while to be referred to Great Ormond Street Hospital (GOSH) and to see the right people who could give us the answers to all our questions. So I would advise all parents to chase up, follow up and pester to been seen by the BWS macroglossia clinic. For Poppy, we asked to have her tested too: even though she didn’t display any signs of BWS, the blood results came back positive, but a saliva swab was negative so the results were inconclusive. The only way to definitively find out is by doing a biopsy, which we feel is too invasive.  We don’t believe she has BWS, she just shared blood with her sister in the womb, so finding out wont actually change her situation. 

Daisy’s large tongue was making her aspirate, especially with water. Her paediatrician prescribed a thickening powder called Carobel to reduce the aspiration problem but she still continued to choke a lot when eating and drinking and developed endless colds and chest infections. Our initial referral to GOSH was to the ENT team when Daisy was around two. She was going to have her adenoids removed because she’d developed really bad sleep apnoea. She was waking up every 20-40 minutes because she stopped breathing, not that I knew it at the time. That was absolutely exhausting for me because I was constantly checking up on her throughout the night. Initially, she was only due to have the adenoids removed but I insisted they check and if necessary remove the tonsils too while they were at it (which they did) because I’d read that they are often enlarged in BWS children. After the operation they confirmed that the tonsils had indeed been very big. So I would advise all parents whose children have sleep apnoea to get the tonsils checked because they’re often less visible behind the large tongue.

I then had to push to get passed on to the BWS macroglossia team, so by the time we finally got to see Caroleen Shipster, Daisy was 2 ½, and although the sleep apnoea had improved, it still needed the tongue reduction surgery to finally sort the sleep problem out. In addition, drinking was becoming a problem – she’d have to stick her tongue out underneath her beaker to swallow – and her speech was difficult to understand, to the point that even I couldn’t second-guess what she’d done when she came back from pre-school and tried to tell me, which would get her very frustrated and angry.

We ended up having the surgery done when Daisy was about 3 ½ by Mr Dunaway and although she can’t remember the actual operation or any of the negatives related to it, there are incidents linked to the whole episode that she does remember, so I wouldn’t have wanted her to be much older. 

Although the operation itself was successful, they struggled to bring her round and had to put her back under to check everything was ok, - so it took longer than anticipated – thank goodness in the end everything was OK. This was a complete one off, but at the time the whole experience was really traumatic for us. At first, Daisy refused to have any oral pain relief and wouldn’t have anything to eat or drink until she got really thirsty. The hospital staff were lovely and did everything they could but those first few days were really tough. Daisy had the operation on the Tuesday afternoon and when we eventually were allowed home on the Saturday, I just gave her Minimilk ice creams for the first few days until she was able to start eating pureed foods. Within a few days back at home though, she decided she wanted to eat the same lasagne as her sister, not the pureed version, so she started eating again, which I suppose shows that in the end she did bounce back really quickly.

Within six months, the improvements in Daisy’s sleep, speech and her ability to chew and drink were unmistakeable. She doesn’t now need any speech therapy at all. Her tongue is still quite wide at the back, so she has to be careful when eating certain things to avoid choking, something she’s learning to do now she can actually chew her food, but otherwise she’s fine. 

She was 3-6 months behind her sister in her physical developmental stages such as sitting, crawling and walking. She generally finds physical things harder than Poppy, as she has a muscle weakness down one side, but she does gymnastics and swimming which help strengthen her muscles and she basically does everything her friends do. She has amazing determination and perseverance and will keep trying until she achieves it. An attribute I’m sure she has gained through her more challenged start to life. She’s now about 3cm taller than Poppy (which Poppy is jealous of!) and is heavier as well. Academically, BWS has not affected her at all. On the contrary, I think maybe it’s made her more focused and determined, and to be honest, she is excelling at school.  

We’ve not felt the need to tell her she has BWS, even though she knows she had the abdominal and tongue reduction surgery. She accepts the ultrasound scans are just something we do to check on her tummy, so we’ll see what we tell her, if anything, in the future. 

All I can say is I’m relieved she had the tongue reduction when she did, that we were the ones to take the responsibility for making that difficult decision, and that she doesn’t have to make it for herself in her teens. Finally, all parents should know that BWS children are amazing and it does get easier! There will be a day when BWS doesn’t even cross your mind as the issues related to BWS and the hospital appointments become fewer and further between. 

Sara and her son, James aged 15

James is my second child, and he was born two weeks late, weighing 10lb 11oz, compared to his sister who weighed 7lb 2oz at term. Neither my husband nor I are big so everyone was surprised because there was no sign of how big James would be during my pregnancy. As he was such a big baby, they tested his blood sugar levels. The next thing I knew, he was taken off to Special Care because they also thought he might have an infection (which he didn’t, in the end). There, the doctors examined him, saw he had a large belly button and a large tongue, plus his possibly-low blood sugar levels (although this turned out not to be the case), and started to put two and two together. Before long, a nice young doctor came up and told us that they thought they knew what was wrong but that it was probably best not to say until it was confirmed as it might worry us - which obviously had the opposite effect! The doctor then agreed to write down on a piece of paper what the suspected problem was: BWS. ‘But don’t go looking it up on the internet.’ As if we would! I was still in hospital, so my husband went home and immediately googled BWS. Meanwhile, I could only wait, so that was an awful time for me. Not long after, he then called me and said ‘It’s fine, it’s not going to affect his brain.’ After that, we started to come to terms with what we were dealing with. We were then sent to a geneticist who did a blood test that showed that James’ BWS was not genetically inherited and I believe he won’t therefore pass it on to any children he has, although one day we can get the final clarification on that by asking for a review with a geneticist.

We also saw Caroleen Shipster at Great Ormond Street Hospital and she referred us on to the surgeon there so that we could discuss the option of tongue reduction surgery. It was something that we decided to do purely for cosmetic reasons because the enlarged tongue hadn’t affected James’ speech or even particularly his teeth. We were concerned though that the large tongue could affect him psychologically as he grew older – after all, even when he was six months old, people stared at him because his tongue was hanging out of his mouth. By the time he had the operation aged two, his four-year old sister had friends who were already saying ‘your brother’s got a big tongue.’ It was hard though because we were conscious that we were putting him through all this just because we wanted him to look perfect. We did explain to his sister what was going to be done to James - ‘a doctor is going to make it smaller for him’ – because we felt she was old enough to understand and that it was better she knew what was happening.

The operation itself went very well and as soon as I saw him afterwards, I knew I’d done the right thing. I knew that’s how James should be: with his tongue in his mouth. That said, I had to request more pain relief afterwards because he was quite distressed once the initial dose started to wear off. I would urge all parents to insist on this, as their children should not be in pain. I also used arnica, which I’m a great believer in: I gave him one dose (of granules) before he went down to theatre and another when he came round. It may be a coincidence but by the morning after the surgery, he was able to drink a little and to eat a bit of yogurt, so he came home later that day, having only spent one night in hospital. I’d advise parents to try arnica because it can only help. Once we were back home, I gave James Calpol every four hours until he was no longer in any discomfort at all. I initially fed him only soft pureed/mushy food. Initially, his sleep routine went out the window but children do recover quickly so he was soon back into his rhythm.

His speech was not affected by his enlarged tongue, and although his orthodontic problems aren’t too serious, we’re very lucky that they are handled at GOSH all the same. He’s currently got braces on his top and bottom teeth and, to be honest, we couldn’t ask for a better service. They’re fantastic. James knows he has BWS, and he knows he had tongue reduction surgery, even though he can’t remember anything about it. But he can see from photos of himself as a baby that he had a big tongue so it would have been difficult and pointless to try to hide things from him. His tongue is now thicker than normal but it’s lovely and round. His belly-button is only slightly protruding now and although we did have to go for regular abdominal scans until he was about 8 to check he wasn’t developing Wilms tumour, overall we’re aware that he’s got a mild case of BWS. He’s now 6ft tall, a fantastic height, and he’s noticeably taller than my husband and me. But that’s hardly a problem! He’s handsome, he’s doing well at school, he plays lots of sport and has lots of friends, so he’s thriving!

The bottom line is: I would encourage all parents to ensure their children have the tongue reduction surgery done at a young age if their child needs it. Don’t worry, just do it. 

Natalie and Emma aged 13

Emma is our middle child and was born 3 weeks early by Caesarean section, weighing 8lbs so she was quite a big baby. Nothing was picked up at the 20-week scan, but when she was delivered, although she was healthy and well, the doctors immediately noticed that she had one leg that was about 2cm longer than the other. They also spotted that her tongue was a bit big so we were given a follow-up appointment with a paediatrician a few weeks later.

In the meantime, my husband and I, who are both podiatrists and therefore have medical knowledge, knew that something wasn’t quite right. We did some research on the internet and eventually veered towards a diagnosis of BWS. The paediatrician was non-committal but we asked to be referred for genetic testing and we were sent to Guy’s Hospital in London. After doing blood tests on the three of us, the geneticist confirmed that Emma had BWS. She told us that no genetic markers for BWS had been found in her blood, and the diagnosis was based on her clinical features, which is often the method of diagnosis. Actually, by then, I was just relieved to finally know what we were dealing with and to be able to start planning what needed to be done. Obviously the diagnosis created certain worries, but we’re very much the sort of people who pick out what’s relevant and just deal with the definites, not the unknowns or the might-happens.

The main issue for Emma was that she had a marked hemihypertrophy, so as well as an enlarged tongue (macroglossia), one leg was growing faster than the other – and was thicker, with more soft tissue – and she was also at a higher risk of Wilms tumour. For the latter, that meant Emma having to have ultrasound scans every three months up to the age of 6, then every six months up to the age of 8. Luckily she was OK in the end, and at least we were able to have the scans done locally, but that was definitely a worry in those early years.

Despite Emma’s macroglossia, I’d managed to breastfeed her, even though she was a really hungry baby compared to her sister who is 13 months older than her. When she went on to solids, I did notice that she had trouble keeping the food in her mouth and swallowing it, she dribbled a lot and her mouth was often open. Also, as the months went on, her speech wasn’t really developing as much as it should have done: she was making noises but not really the babbling sounds that babies should be making.  In addition, it was clear the macroglossia was going to have a cosmetic impact and it would affect her jaw and teeth development. So for us, we knew the tongue reduction surgery needed to be done, and it was really a question of doing it sooner rather than later.

Emma eventually had the surgery when she 18 months old at Great Ormond Street Hospital. The operation went really well and although she was in discomfort when she came round, and my husband and I took it in turns to walk around the ward with her, quite soon she was standing up in her cot and shouting at the nurses, taking in fluids, and eating ice cream and other sloppy foods. Even better, the day after the operation, she suddenly started making sounds that were more like actual words. It was miraculous, and from then on, her speech has been fine!  Her teeth and jaws have also developed normally.

The various leg operations have been trickier, I have to admit. We were seen very early on by the orthopaedic team at GOSH and we were told that Emma would probably need two operations to slow the growth of the long leg but that it wasn’t an exact science so it was difficult to know exactly how things would progress. Emma had her first leg operation aged 9, by which time she had a 5 centimetre difference in leg length. They stapled the growth plates in the femur and tibia for two years to give the shorter leg a chance to catch up with the longer one, after which the staples were removed in another operation. The first operation was very painful for her and unfortunately the difference in leg lengths wasn’t reduced as much as we’d hoped. When she was about 12, the leg length difference was about 6cms, and Emma had the next procedure to completely drill out the growth plates in the tibia of the longer leg. The procedure was far less painful than the first one, maybe because this time round the anaesthetist injected massive amounts of local anaesthetic around the knee. In any event, Emma was much happier when she woke up which was a relief. A few months later, it became apparent that the problem hadn’t been completely sorted, because although one part of the leg was no longer growing, the outer part still was, so the leg was starting to bow. Even though Emma had the procedure redone, it’s still not quite right. We’re now waiting to have the same procedure done on the femur – and redone on the tibia! – and hopefully they will catch the last growth spurt, after which we hope that will be it for these types of operations. 

Considering everything she’s been through, Emma has been absolutely brilliant, even though in the periods leading up to surgery she understandably gets emotional and angry. As a parent, that’s tough to have to deal with. When it comes to navigating the health system and the different clinicians, I would say that parents have to be one step ahead all the time. The nursing team at GOSH are amazing but you often have to take the initiative for appointments, for checking or reconfirming the date for an operation, and so on. Hospitals are snowed under so it’s up to parents to inform themselves as much as possible and be proactive in the care of their children.

We’re really lucky that our jobs as podiatrists mean we’re perfectly placed to know how best to help Emma. For example, one of her feet is about 1 ½ sizes bigger than the other, so we always buy two pairs of shoes. Though we eventually worked out that, if you buy three pairs in sequential sizes, you can actually get two pairs out of them, for example a size 5 and 6, then a size 6 and 7. Also, after explaining Emma’s problem, I’ve sometimes asked shops if they can give me a small discount, and often they’re happy to do so. You also have to be aware that many shoe designs for children change as the sizes get bigger. So in a size 3, for example, there might be 2 velcro straps, but in size 4 there will be three, so the shoes look different.

Even though Emma’s leg difference is now 6cm, the body can actually compensate for a couple of centimetres’ difference on its own, so she only has a 4cm raise for her shoe. However, she needs a design that’s really supportive, like a trainer or skater shoe. If the difference was smaller, a podiatrist could put in an insole with a heel raise inside the shoe. Not surprisingly, I would say that it’s really important to see a podiatrist for this sort of hemihypertrophy because they will assess how much the longer leg rolls in and pronates – as a way of making that leg a bit shorter – which can cause problems round the ankle. They can then help alleviate the problem with an insole and give exercises to do at home to reduce problems for the feet and the back. Also, the shorter leg can get very tight around the calf muscle or develop some Achilles tendonitis because the foot is always on tip toe so it’s important to stretch that out as much as possible, and a podiatrist can show what exercises to do for that. Wearing a splint at night that puts the foot at 90 degrees helps with preventing or alleviating these problems. Emma wears her raised shoes for school and at weekends because it’s important to maximise the time she wears them, but she also street dances, roller-skates and does other activities with just normal shoes on. She’s simply learnt to adapt, and so far her back and her feet are fine and she does everything a girl of her age would do.

She’s a very attractive girl, doing really well at school and is lucky that she’s got some feisty friends who will challenge directly anyone they catch staring at her feet, though Emma herself is not afraid to speak her mind. As a family, we’ve always been pretty open about what her problems are, although we didn’t tell her at the time why she was getting the regular abdominal scans because we didn’t want her worrying about something she might never have. But I think her trips to GOSH over the years have enabled her to put her problems into perspective however difficult they might sometimes be for her.

Amanda and Tom, aged 15

Tom was born at 36 weeks, weighing 7lb 5oz and perfectly healthy apart from having an extra digit on each hand which hadn’t been picked up at any scans because there was no bone in them, just soft tissue. I’d struggled really badly to try and breastfeed him and eventually he went on to a bottle, which he found a bit easier. As he was my first baby, I just thought it was a suction problem but it turned out his tongue was larger than normal and this made him difficult to feed.

The paediatricians must have known something wasn’t quite right because they did blood tests to find out if there was anything else going on. In the meantime, when Tom was still a very young baby, he had his extra digits removed at our local hospital. Luckily, Tom remembers nothing, but for me and my mum who was with me, we found the surgery very traumatic particularly as one hand bled a lot. Tom was 5-6 months old when the BWS diagnosis was finally made. I think I was numbed to it, maybe because I had no other baby to compare him to, and maybe because I didn’t understand the full implications of what we were told.

It helped that our local hospital were fantastic: we were told Tom had a slight chance of developing Wilms tumour with the type of BWS that he had and they set up this whole plan where he would be scanned every three months to check he was OK. At night, he had to sleep on his front – which normally babies shouldn’t do – and we had a respiration monitor on his cot, because there was a chance, with his large tongue, that if he slept on his back he could choke. Lying on his front meant his tongue would fall forward.

When he was coming up to his second birthday, he saw Caroleen Shipster a speech and language therapist at Great Ormond Street Hospital because his of his large tongue. It was now bigger on one side and he was using it almost as a bottom lip. It got to the stage where, although I could understand what he was saying, other people couldn’t. He was also starting to get comments from strangers in the street, like ‘Ooh, look at your big tongue!’ or ‘Put that tongue away!’ which I used to think was so stupid, but it showed that one way or the other his large tongue was going to be an issue as he got older.

When he reached the age of two, Tom had his tongue reduction surgery at Great Ormond Street Hospital (GOSH). Although I knew it would help him, I was petrified all the same, especially after our experience with his hand surgery. Even though the day of the operation itself wasn’t pleasant, the surgery was very successful and Tom recovered so well soon after the surgery.  His tongue was far less noticeable and he was able to eat more easily. I cried when I saw that, as I knew I’d made the right decision.

After the surgery, he had regular speech therapy, mainly at our local hospital, and also had regular check-ups at GOSH. The speech therapy made a difference to his speech and lip and tongue movements, and what they did was fantastic.

Unfortunately, despite having a low tumour risk, Tom suddenly developed Wilms tumour when he was just over three years old. I’d just had my second son and I noticed that Tom, who had just started at nursery, had begun to hold his side the whole time, even though he never complained of pain. The GP tested his urine and, knowing his medical history, Tom was sent straight away for an ultrasound which sadly confirmed the diagnosis. We were then sent back to GOSH for the actual treatment. First, he had to have chemotherapy, followed by surgery. I had to explain to Tom, using the scan picture, that there was a bad bit in his tummy and it needed to go away. He always accepted what we said, maybe because he was so used to hospitals by then that it seemed normal for him. We did have some really bad times though with the chemo, which went on for 6 months in all: he lost his hair and it made him very sick.

Luckily, we were able to have shared care between GOSH and our local hospital which helped because Tom had chemo once a week. During that time, he still carried on going to nursery when he was well enough so that he could maintain some sort of routine. It helped that some of the nurses from our local hospital came to explain to the staff what was happening to Tom so that they could understand the situation. The school then sent letters out to all the parents and put a big sign on the front door saying ‘we must be informed ASAP if any child (or sibling) develops chickenpox or another infection’. It was a bit tricky at times because Tom’s immune system was virtually non-existent so something like a cold virus could be really harmful. All the parents and staff at nursery were really supportive and helpful and in the end, Tom got through it OK.

After the chemo, he had to have the operation on his kidney, a nephrodectomy, to remove the Wilms tumour. In the end, they took out only what they needed to and saved the rest of the kidney, which they’d been keen to do but didn’t think would be possible because the chemo makes blood clotting harder. The operation itself was very successful, they did an amazing job, even though I remember Tom was very uncomfortable when he came round and kept saying he was in pain. It turned out the epidural he had was leaking so he wasn’t getting the full effect. That was the worst part for me. Also, he was so weak at first that he couldn’t get out of bed but within a couple of days, he got his strength back. Tom had a lot of stitches and his scar goes right across his abdomen but whenever anyone asks what happened, he just shrugs it off and says ‘oh, I had to have an operation.’ Most of his school friends grew up with him, so they know what he’s been through, and Tom is not one for making a big thing out of it anyway. When he was younger, because of his operation, he couldn’t play rough and tumble games, and had to sit and be calm. But now he can do all that and play sport like any normal teenage boy.

He and his 4 younger brothers know he has BWS and it’s just something that’s normal for our family. We have been matter-of-fact about the difficulties he has had to face and the hospital appointments he has had. We just say ‘We are going to hospital for this or that…or to make it all better,’ that sort of thing. At one stage, after the kidney operation, he did have some night terrors, so he went and spoke to lady about how to deal with that, which helped. Otherwise, he’s been fine over the years - plus, he can’t remember anything about the tongue reduction.

Other current issues related to BWS are that the hair on one side of one eyebrow hasn’t really grown back post-chemo, and that bothers him, even though it’s not something you’d notice. I think we will be able to get that sorted. Also, he’s got these little holes on his ears, almost as if he’s got piercings, and that’s something that’s very common with BWS. Tom is being seen by the orthodontist at GOSH because he doesn’t have enough space for all his teeth and he will have to have some teeth taken out. As far as we see it, though, all these problems can be dealt with and sorted out. He’s at an age where most teenagers don’t like what they see in the mirror so it’s important to keep his confidence up and to reassure him that he’s basically healthy, well and handsome.

BWS has probably meant that Tom is on the taller side but my side of the family is quite tall anyway. I’m 5’8” and Tom is currently a bit taller, so he’ll probably get to be around 6’ tall.

My advice to parents would be: definitely have the tongue reduction, at an early age. Always talk to people involved in your child’s care, let them know of your concerns, however silly, because people are there to help, from the specialists down to school teachers and other parents.

Moira and her daughter, Caitlin (8)

Caitlin is my third child. My first child died before term from Edwards Syndrome but my second child was born healthy. With Caitlin I also had a normal pregnancy and, despite getting extra scans, nothing was picked up. I was therefore totally unprepared when I went into labour a month early. Labour was so fast that, from the first pains to actually giving birth, it only took 1hr 10 minutes! However, despite her being a month early, Caitlin already weighed 7lb 10oz, a sign, I now know, of BWS, along with premature labour.

Her breathing was really raspy at birth and a heel prick test revealed that her blood sugar levels were virtually zero. They whisked her off, assured me she’d be back in an hour, that this was common, and that there was nothing to worry about. But after three days in the Special Care Baby Unit, no matter how much sugar they were getting into her, her levels still weren’t going up. They couldn’t understand what was going on. Eventually they discovered that Caitlin was suffering from paediatric hyperinsulism where the body keeps producing insulin so the blood sugar level gets too low. London’s Great Ormond Street Hospital (GOSH) is one of four centres in the world that deals with that condition, so they immediately took her up there in an ambulance and she was operated on at once to have a Hickmann line inserted so that they could administer enough sugar directly into her blood. It was a heart-breaking and surreal time, not least because they couldn’t revive her after the operation, so she ended up in intensive care for a week, unable to breathe on her own, with some sort of infection and various complications. Despite this, I have nothing but praise for that unit, because all along they weren’t just treating a child with a serious medical issue, they treated the whole family and they really looked after us and our other three year-old daughter.

Caitlin ended up staying at GOSH for three weeks, during which time they did blood tests on my husband and me and eventually confirmed that Caitlin had BWS. It was obviously a shock but the geneticist there explained that she didn’t have the obvious characteristics – notably overgrowth – of BWS, even though she did have an enlarged tongue and enlarged internal organs (she eventually ended up ‘growing into’ her internal organs as she got older).

Her most serious BWS problem was that she had hyperinsulism. Low blood sugar is very dangerous because it starves the brain of oxygen and can potentially cause brain damage, especially in young children, so our main concern was to get that stabilised.

They gave Caitlin diazoxide medication to regulate her insulin production. The problem was that it also suppressed her appetite. This, in combination with her enlarged tongue, meant that we really struggled to get her to feed and that, in turn, prevented her blood sugar levels from rising. We had to do a heel prick test on her before each feed, measure her blood sugar level, and keep in constant contact with GOSH about the results. They would then tell us how much milk she had to have and we’d just have to sit there until she’d finished the right amount. Every feed took absolutely ages because she’d have a few sucks of the bottle, feel full and fall asleep. For the first four months, I hardly went out and hardly slept. It was complete hell. Even the bottle teats were problematic, although we got lucky because in the end the hospital gave us these special, incredibly soft teats which, with her big tongue, she could suck on with little effort. They aren’t available in the shops so I had to keep asking for them at the hospital. 

When she was five months old, we introduced solids but she had terrible difficulty eating these too because of her tongue so her blood sugar levels remained very unstable.

The diazoxide medication also made her hair grow, so she became a very hairy baby, with eyebrows that joined together and a hairline that was almost down to her eyebrows. People stared at her and that was difficult. In fact, that first year was very lonely for me. I’m very lucky that my husband and I have a good relationship, because the stresses on us would have broken many couples apart. We didn’t really tell people about Caitlin’s condition, other than very close family, because as soon as you label a child with a ‘syndrome’, they tend to be treated differently, so we didn’t share what was happening with other people.

Caitlin eventually had her tongue reduction surgery at GOSH just before she turned two. Although it went well, she screamed the place down afterwards because she didn’t come round well after her general anaesthetic. She had to be tube-fed before and after the operation because they couldn’t afford for her to have low blood sugar at any stage.  Her medication meant that, because she didn’t get hungry, she didn’t want to start eating again, whereas normally, children get hungry enough that they want to try eating food. When we took her home a week later, she was still in pain and being tube-fed. At home her tongue just wasn’t looking right and within a few days we were back at GOSH as an emergency. The wound had got infected, it was bleeding, the stitches had burst and the tongue had actually split open and looked like a forked tongue. Caitlin then had to go through a second operation straight away, with all the pain and the tube-feeding. It was absolutely horrendous. This time round, I followed my gut instinct and, after the surgery, I managed to get her to eat by giving her the one brand of custard she really liked, not pureed hospital food. That custard saved us, because it was all she ate for the next week and I knew that was the only thing she’d accept. It’s important to follow your instincts as a parent because you know your child better than anyone else. Equally, although it was unusual to get an infection, don’t rule it out happening.   

A week after the second operation, though, Caitlin was able to start eating soft food like shepherd’s pie and yogurt. So despite all the traumas – none of which she can remember - I must emphasise that it was totally worth getting the surgery done.

Within six months, they started to reduce Caitlin’s hyperinsulism medication, her blood sugar levels stabilised on their own. I think she was growing out of her hyperinsulism anyway; but being able to eat more easily may also have helped because she was happier taking in larger amounts of food. In any event, Caitlin now completely controls her blood sugar levels through food, and her hyperinsulism is no longer an issue.

Unfortunately, when she was about 3 ½ they discovered that Caitlin didn’t produce any growth hormone and had hypopituitarism, none of which is linked to her BWS, but it explained why, instead of being large for her age, as most BWS children are when they are young, Caitlin was now tiny. Since then we’ve now had to inject her every night with growth hormone. In addition, just before the time of diagnosis, scans revealed that she also had some spots on her liver which they feared might be cancerous. She was getting regularly scans for Wilms tumour and there was also a slightly raised chance of liver cancer. We had to go for monthly tests and scans after that for about a year because there was the added uncertainty about whether giving her growth hormones might stimulate any cancer cells. In the end, the spots turned out to be harmless but it was certainly a very worrying time, worse than the tongue operations, to be honest. Although on the plus side, the growth hormones do help to control her blood sugars.

Currently, our main concern is that Caitlin’s lower teeth are in front of her upper teeth. This is being monitored by the orthodontist at GOSH. It might require an operation but it will become clearer once she’s got her adult teeth.

One of the great things at GOSH is that they do operations such as the tongue reduction or jaw surgery for cosmetic, medical and practical reasons. Their view is that the cosmetic reasons are as important as the other reasons for children and teenagers because they completely affect how they feel about themselves. Plus, the BWS macroglossia unit there sees the whole picture of the child and, if necessary, can refer them on to other specialists. Caitlin loves going there, as do I, because we feel safe and cared for.

We’ve been through so many things with Caitlin, yet she is now an incredibly healthy, ridiculously active child who is thriving academically. Her speech is fine, as is her tongue, and she lives a completely normal life, considering the major health issues she had when she was younger. If anyone is unsure about having the tongue operation, I would say do it, and do it when your child is young. Equally, don’t let having a BWS child put you off having another child or children. Accept help from friends and family, give yourself some time off, and know that there is light at the end of the tunnel.

Tom’s Story (Tom will be 36 in 2018)

I was born in Poole, Dorset before my parents moved to a small village in North Dorset. I have one sister who is almost 2 years older than me. She does not have BWS.

From what I can remember I had mostly a happy childhood but in my teenage years I suffered from anxiety and depression – I do not however believe this was linked to BWS.

With professional help I was able get through my issues and after meeting my now wife I moved to London at the age of around 19.

I am now happily married with 4 wonderful children and doing well in my career.

How and when was BWS diagnosed?

At birth

At what age did you become aware of the diagnosis?

Have known about it for more or less as long as I can remember

What features of BWS did you have as a child and what features do you have now (if any)?

As a child:

Enlarged tongue and internal organs, earl lobe creases,lop-sidedness (left side bigger than right), low blood sugar. I was also born six weeks premature.

Now:

Still slightly lopsided (left foot almost 2 sizes bigger than right, talk slightly out of the corner of my mouth, left leg around 2cm bigger than right but using innersoles only walk with a slight limp, very occasionally get low blood sugar but not enough to cause any issues).

How were you/are you affected by these features? What did they mean to you?

I remember quite a few hospital visits as a young child but they were not something that bothered me. I was also teased quite a lot at school but that is something that most people go though and not all of it will have been due to the syndrome.

What surgery have you had, if any?

Tongue reduction at Great Ormond Street when I was 20 months old

What were the outcomes?

I don’t remember anything about the surgery as I was so young but I have been told that before it I could not fit my tongue in my mouth and other than being thicker than normal it doesn’t affect me at all.

How did your height/size compare with your brothers, sisters and peers?

I have always been quite tall for my age and am a little taller than my Dad who is also tall so I don’t believe this is due to the syndrome.

How did you get on at school?

I initially had issues with my temper which caused problems for me at school but after settling into a smaller primary school (and slowly learning to control myself)I got on relevantly well, progressing to secondary school before I stopped attending due to depression and anxiety (I do not believe the depression or anxiety have anything to do with the syndrome).

How did your progress differ from other brothers, sisters and peers?

I was teased a bit more than most people and didn’t work as hard as I should have but other than that I got on just as well as everyone else.

How has the diagnosis of BWS affected your life?

Growing up I have been able to talk to quite a few new parents of children with BWS and I hoped give some reassurance that although the symptoms vary in every case (and I do have the syndrome mildly), a lot of the symptoms get less noticeable as you grow  up and it is possibly to live a normal happy life.

Growing up the symptoms did get less noticeable, I was very aware of it before and when my children were born but that was more a case of looking out for signs of the syndrome to be prepared if any of them had it.

I feel that the syndrome affected me the most in my early years but hardly at all in my adult life.

What are you doing now?

I work as a communications engineer and am lucky enough to be married with 3 amazing children (none of which have any signs of BWS).

What would be your advice to parents of a newly diagnosed child?

Enjoy every moment they can as they go so quickly and take as many photos as possible

Be aware that BWS is a collection of features and not a disease - every case is different but a lot of symptoms do get less noticeable with age.

What practical tips do you have for other parents?

Gain as much information as possible and make doctors aware where necessary as not all will have much knowledge of the syndrome.

Be mindful that BWS children will have the same challenges as everyone else and although it would be easy to, don’t put everything down to the syndrome.

Any other comments?

With advances in the knowledge of BWS and medical advances in general there is more information, support and treatments available to families and children with the syndrome.

Amelia's Story

First 3 months

As I was measuring large, I was referred to a consultant for a scan at 37 weeks. The scan estimated that Amelia was already 10lb 8oz so I was booked in the following day for a caesarean. The consultant mentioned a possibility of Beckwith Wiedemann Syndrome (BWS), but assured us that it was very rare and he was most likely to be wrong. We went home and ‘googled it’ and found out that a large tongue is a common feature of BWS. When she arrived, she was 11lb as soon as we saw her tongue, we knew straight away that he was right.

As hypoglycaemia is very common in BWS babies, her blood sugars were checked and they gave an extremely low reading of 0.9. She was taken straight to SCBU and put on a dextrose infusion. Over the next few weeks, they tried to increase her milk and decrease her dextrose but every time, her sugars dropped. It was very frustrating in our local hospital because they didn’t really understand why she was still having hypos as they were only familiar with neonatal hypoglycaemia caused by gestational diabetes. They mentioned Hyperinsulinism (HI), but were convinced that it was just neonatal hypoglycaemia. When she was about 4 weeks old, they sought advice from GOSH and we started on Diazoxide. Things didn’t improve, so at 6 weeks old we were transferred to GOSH under the care of Professor Hussain.

The difference was incredible. We were finally being looked after by people who understood her condition.  It was confirmed that she had HI and at that time, we also got the positive diagnosis for BWS. She had a Hickman line inserted and started treatment on TPN (Intravenous nutrition) with Dextrose and Diazoxide. At first it seemed that her BMs (blood sugars) were improving, however, within a few days she was in NICU struggling to breathe. She had contracted bronchiolitis and her BMs were in the 20s! She was put on CPAP (a type of ventilation) to help with her breathing, and physio to help re-inflate a collapsed lung. Her Hickman line was no longer working, so after a couple of days in NICU she went back into theatre for replacement one. Then we restarted treatment. Her BMs improved but not enough to stop the TPN so we tried Octreotide with which had no effect at all.

Professor Hussain then broke the news to us that he felt the only option was a pancreatectomy. This is really unusual in BWS patients, but her HI was very severe. The following week, she had 70-80% of her pancreas removed. We were warned that she might require insulin for a short time following the surgery, but in fact it was the opposite. She had a very bad few days with constant lows. She was started back on Diazoxide and her sugars improved. We finally managed to stop the TPN and on to full feeds! By this time, her tongue had increased in size so it was amazing she could drink from a bottle. She was discharged from GOSH on 21st November 2008 at 3 months old.

Just before we were discharged from GOSH, we met with the ENT team to discuss tongue reduction surgery. Her tongue had grown significantly since she was born. We had to wait until her sugars were stable, so we were booked in for when she was 7 months old.

Amelia’s genetics confirmed that she has upd(11)pat type of BWS. This type is the highest risk of abdominal cancers so three-monthly ultrasounds were arranged. Other characteristics of BWS that Amelia has include Hemi-Hypertrophy, Naevus flammeus, ear pits and weakened tummy muscles.

First Tongue reduction

She returned to GOSH in March 2009 for her first tongue reduction. Due to her blood sugars and the severity of her macroglossia, we knew that the surgery was not going to be simple. The first few days following surgery were horrible, and it was hard to manage her pain. After a few days, she settled down enough to try and drink from a bottle. It took a while, but in the second week, she managed it. We were discharged after 2 weeks, and the difference in her tongue size was incredible.

Her sugar levels were still unstable and we were experiencing regular hypos. As her tongue was still large, we couldn’t wean her so we changed her to high calorie milk with added maxijul to keep her sugars stable. She would be fed every 3-4 hours day and night, otherwise she would have a hypo. We tried a little bit of solid food, but her tongue still caused a problem - She tried hard though as she really enjoyed it!

Second Tongue Reduction

Once Amelia had recovered from the surgery, we were referred to Caroleen Shipster for speech and language. Caroleen felt that Amelia could benefit from further surgery so she referred us to Mr Dunaway’s Craniofacial clinic. Due to the waiting list at GOSH, we opted to have the surgery by Dr Dunaway privately at the Portland hospital in July 2010.  The benefit of private treatment was that I got fed… and very well too! We were in for a week!

After the surgery, we noticed that her dribbling was excessive. We got through up to 50 bibs a day and tried our best to stop her getting sore. She managed to eat a lot more solid food though and we finally managed to reduce some of her milk feeds. Her blood sugars were becoming much more stable although she was still having the odd hypo.

We spent time with Caroleen working on Amelias speech. We worked on lots of exercises to encourage Amelia to close her mouth, and pronounce her words correctly. All things considered, her speech and development was extremely good. During the winter of 2010, and into 2011, Amelia struggled with her breathing. Up until this time, we didn’t really have any problems, but noticed she always snored badly. After an admission to our local hospital when she was unwell, a sleep study at GOSH concluded that she had severe obstructive sleep apnea. The next step was to remove her tonsils and adenoids, and a third tongue reduction to try and increase the space in her airway. We were lucky enough to meet a new and upcoming band during her admission to remove her tonsils and adenoids!

Third Tongue Reduction

We returned to GOSH in July 2012 for more tongue surgery. This time they were also removing her sublingual glands under her tongue too as these were also very large. We spent another week in GOSH. The operations definitely get harder as she gets older as she is more aware of what is going on around her. The improvement following this operation was amazing. She could finally eat enough to remove daytime milk which was just in time for her to start school in reception. We worked on lengthening the gap overnight between milk whilst maintaining her blood sugars and by the end of 2012, she was off night feeds completely!

During 2013, her blood sugars were stable enough to start reducing the Diazoxide. We did have hypos along the way, but with perseverance, she was finally medication free just after her 5th birthday.

Five years and onwards!

Since Amelia started school, she has become a happy and energetic child. We have always encouraged her to carry on as normal and not think of herself as any different to anyone else. She still has lots of hospital appointments and has had further surgery. She is likely to need surgery to correct her hemi at some point, but we are taking each day as it comes. We also know that she is very likely to be Diabetic in her early teens due to the pancreatectomy, but we are prepared for that. We have a huge amount of gratitude for all the teams at GOSH involved in her care (trust me, there are many!) as although things have been extremely tough at times, we are very pleased with her progress. We never imagined that she would be so ‘normal’! She swims, and does gymnastics and running too. Academically, she is above average!

We know that Amelia’s symptoms of BWS have been very severe in terms of her macroglossia, and also her hyperinsulinism. They have been times when life has been difficult, but when I look at her now it’s hard to believe she had such a tough start. Things have improved so much over the year’s and she deals with things very well.
 

My advice to any parent that has a child with a medical condition would be:

-         Educate yourself with their condition. The internet is a great source of information, but we aware that each child (and hospital) is different.

-         Work with your medical team and not against them. If there is anything that you are concerned about, raise it with them. You are the voice for your child.

-         If you have questions, or don’t understand, ask again. Most doctors would be happy to explain things further.

-         Support groups can be a great help. Amelia also loves having friends from the hospital as she has a different type of friendship with them and they understand more about each other.

-         I always talk to Amelia about her condition and have included her in decisions. I want her to understand herself, and do not want her to have a shock in the future. She is always in the room for appointments and the doctors talk to her and ask her if she has any concerns.

-         Don’t panic if they aren’t hitting their milestones at the same rate as their peers. Discuss it with your medical team, and take one day at a time. Amelia was still on majority of milk feeds until at least 3 years old. She is now 9 and eats a healthy, balanced diet. She eats pretty much anything!

First 3 months

As I was measuring large, I was referred to a consultant for a scan at 37 weeks. The scan estimated that Amelia was already 10lb 8oz so I was booked in the following day for a caesarean. The consultant mentioned a possibility of Beckwith Wiedemann Syndrome (BWS), but assured us that it was very rare and he was most likely to be wrong. We went home and ‘googled it’ and found out that a large tongue is a common feature of BWS. When she arrived, she was 11lb as soon as we saw her tongue, we knew straight away that he was right.

As hypoglycaemia is very common in BWS babies, her blood sugars were checked and they gave an extremely low reading of 0.9. She was taken straight to SCBU and put on a dextrose infusion. Over the next few weeks, they tried to increase her milk and decrease her dextrose but every time, her sugars dropped. It was very frustrating in our local hospital because they didn’t really understand why she was still having hypos as they were only familiar with neonatal hypoglycaemia caused by gestational diabetes. They mentioned Hyperinsulinism (HI), but were convinced that it was just neonatal hypoglycaemia. When she was about 4 weeks old, they sought advice from GOSH and we started on Diazoxide. Things didn’t improve, so at 6 weeks old we were transferred to GOSH under the care of Professor Hussain.

The difference was incredible. We were finally being looked after by people who understood her condition.  It was confirmed that she had HI and at that time, we also got the positive diagnosis for BWS. She had a Hickman line inserted and started treatment on TPN (Intravenous nutrition) with Dextrose and Diazoxide. At first it seemed that her BMs (blood sugars) were improving, however, within a few days she was in NICU struggling to breathe. She had contracted bronchiolitis and her BMs were in the 20s! She was put on CPAP (a type of ventilation) to help with her breathing, and physio to help re-inflate a collapsed lung. Her Hickman line was no longer working, so after a couple of days in NICU she went back into theatre for replacement one. Then we restarted treatment. Her BMs improved but not enough to stop the TPN so we tried Octreotide with which had no effect at all.

Professor Hussain then broke the news to us that he felt the only option was a pancreatectomy. This is really unusual in BWS patients, but her HI was very severe. The following week, she had 70-80% of her pancreas removed. We were warned that she might require insulin for a short time following the surgery, but in fact it was the opposite. She had a very bad few days with constant lows. She was started back on Diazoxide and her sugars improved. We finally managed to stop the TPN and on to full feeds! By this time, her tongue had increased in size so it was amazing she could drink from a bottle. She was discharged from GOSH on 21st November 2008 at 3 months old.

Just before we were discharged from GOSH, we met with the ENT team to discuss tongue reduction surgery. Her tongue had grown significantly since she was born. We had to wait until her sugars were stable, so we were booked in for when she was 7 months old.

Amelia’s genetics confirmed that she has upd(11)pat type of BWS. This type is the highest risk of abdominal cancers so three-monthly ultrasounds were arranged. Other characteristics of BWS that Amelia has include Hemi-Hypertrophy, Naevus flammeus, ear pits and weakened tummy muscles.

First Tongue reduction

She returned to GOSH in March 2009 for her first tongue reduction. Due to her blood sugars and the severity of her macroglossia, we knew that the surgery was not going to be simple. The first few days following surgery were horrible, and it was hard to manage her pain. After a few days, she settled down enough to try and drink from a bottle. It took a while, but in the second week, she managed it. We were discharged after 2 weeks, and the difference in her tongue size was incredible.

Her sugar levels were still unstable and we were experiencing regular hypos. As her tongue was still large, we couldn’t wean her so we changed her to high calorie milk with added maxijul to keep her sugars stable. She would be fed every 3-4 hours day and night, otherwise she would have a hypo. We tried a little bit of solid food, but her tongue still caused a problem - She tried hard though as she really enjoyed it!

Second Tongue Reduction

Once Amelia had recovered from the surgery, we were referred to Caroleen Shipster for speech and language. Caroleen felt that Amelia could benefit from further surgery so she referred us to Mr Dunaway’s Craniofacial clinic. Due to the waiting list at GOSH, we opted to have the surgery by Dr Dunaway privately at the Portland hospital in July 2010.  The benefit of private treatment was that I got fed… and very well too! We were in for a week!

After the surgery, we noticed that her dribbling was excessive. We got through up to 50 bibs a day and tried our best to stop her getting sore. She managed to eat a lot more solid food though and we finally managed to reduce some of her milk feeds. Her blood sugars were becoming much more stable although she was still having the odd hypo.

We spent time with Caroleen working on Amelias speech. We worked on lots of exercises to encourage Amelia to close her mouth, and pronounce her words correctly. All things considered, her speech and development was extremely good. During the winter of 2010, and into 2011, Amelia struggled with her breathing. Up until this time, we didn’t really have any problems, but noticed she always snored badly. After an admission to our local hospital when she was unwell, a sleep study at GOSH concluded that she had severe obstructive sleep apnea. The next step was to remove her tonsils and adenoids, and a third tongue reduction to try and increase the space in her airway. We were lucky enough to meet a new and upcoming band during her admission to remove her tonsils and adenoids!

Third Tongue Reduction

We returned to GOSH in July 2012 for more tongue surgery. This time they were also removing her sublingual glands under her tongue too as these were also very large. We spent another week in GOSH. The operations definitely get harder as she gets older as she is more aware of what is going on around her. The improvement following this operation was amazing. She could finally eat enough to remove daytime milk which was just in time for her to start school in reception. We worked on lengthening the gap overnight between milk whilst maintaining her blood sugars and by the end of 2012, she was off night feeds completely!

During 2013, her blood sugars were stable enough to start reducing the Diazoxide. We did have hypos along the way, but with perseverance, she was finally medication free just after her 5th birthday.

Five years and onwards!

Since Amelia started school, she has become a happy and energetic child. We have always encouraged her to carry on as normal and not think of herself as any different to anyone else. She still has lots of hospital appointments and has had further surgery. She is likely to need surgery to correct her hemi at some point, but we are taking each day as it comes. We also know that she is very likely to be Diabetic in her early teens due to the pancreatectomy, but we are prepared for that. We have a huge amount of gratitude for all the teams at GOSH involved in her care (trust me, there are many!) as although things have been extremely tough at times, we are very pleased with her progress. We never imagined that she would be so ‘normal’! She swims, and does gymnastics and running too. Academically, she is above average!

We know that Amelia’s symptoms of BWS have been very severe in terms of her macroglossia, and also her hyperinsulinism. They have been times when life has been difficult, but when I look at her now it’s hard to believe she had such a tough start. Things have improved so much over the year’s and she deals with things very well.
 

My advice to any parent that has a child with a medical condition would be:

-         Educate yourself with their condition. The internet is a great source of information, but we aware that each child (and hospital) is different.

-         Work with your medical team and not against them. If there is anything that you are concerned about, raise it with them. You are the voice for your child.

-         If you have questions, or don’t understand, ask again. Most doctors would be happy to explain things further.

-         Support groups can be a great help. Amelia also loves having friends from the hospital as she has a different type of friendship with them and they understand more about each other.

-         I always talk to Amelia about her condition and have included her in decisions. I want her to understand herself, and do not want her to have a shock in the future. She is always in the room for appointments and the doctors talk to her and ask her if she has any concerns.

-         Don’t panic if they aren’t hitting their milestones at the same rate as their peers. Discuss it with your medical team, and take one day at a time. Amelia was still on majority of milk feeds until at least 3 years old. She is now 9 and eats a healthy, balanced diet. She eats pretty much anything!