Gastroenterology FAQ

Are stomach and bowel problems common in Noonan syndrome?
I haven’t experienced stomach pains specifically apart from the fact that recurrent abdominal pain without an obvious cause is not uncommon in childhood in general terms. Recurrent stomach pain and cramps is quite common and I always describe it as a bit like headaches – just as some people get a lot of headaches it doesn’t mean that they’ve got an underlying disease or problem in their head. Stomach pains and stomach cramps are quite common in children and they do have a genuine experience of pain. For the overwhelming majority – 90-95% – you look after it with reassurance, simple painkillers, rubbing their tummy and usually you tend to find that it gets better. If a child’s severely unwell, has got diarrhoea or is losing weight or is becoming paler then you should, then you should definitely get medical help. It’s rare but intestinal lymphangiectasia may present with bloating, abdominal pain particularly with fatty foods and chronic diarrhoea – greasy, floating, smelly. It’s important to remember that you can have things coincidentally to Noonan’s. We have been asked if Gilbert’s Syndrome is part of Noonan Syndrome. This is a cause of jaundice and it’s relatively common but it’s likely to have been coincidental. And this is common with other symptoms and conditions.   Question asked and answered at our family’s day 2016
Could my child simply not be hungry?

To be really unscientific, I think from my personal experience that my son doesn’t actually get hungry. I think there might be a problem associated with Noonan’s about feeling hunger. My question is around my son – he’s got a peg, he’s 6 so all he has is his nutrients, his pectorin milk, and water that we give him. Now should we be thinking of supplementing that with anything else now he’s getting older and older and there doesn’t seem to be any coming future in actually eating different food, fresh fruit and vegetables. Should we be thinking about supplementing his diet with anything else other than this milk and water?

I probably don’t know enough to say how common not feeling hungry is although you definitely see that in some children because just like adults, we have variable appetites. I think the most important thing with regard to diet and calories and vitamins is to be under a good dietician who can add up the number of calories and know what vitamins and things to take. The other thing I would say is once you’ve got a good dietician who’s making sure your son or daughter’s getting the right number of calories is to not actually make the food too much of an issue. What you don’t want is for food to become a battle every mealtime because once you know they’ve got good calories in; you want to make food a pleasurable experience and that’s what you focus on. I think the other thing is they say that most children will need to taste a new flavour at least 15 to 17 times before even thinking about liking it so when you introduce anything new into the diet, I wouldn’t expect too much too fast. That would be my main advice – not to make it too much of a battle and ensure you’ve got a good dietician who can help you. 

 Question asked and answered at our family’s day 2016

Do I need to supplement calorie milk?

My son’s calorie intake apart from his peg is about zero so nothing else is introduced into his diet – are we missing out on anything?

Calorie milk should have the full range of nutrients your child needs going in through the peg so you shouldn’t have to worry. Some parents have opted to tube feed with a blended diet. It’s not sanctioned by the British Dietetics Association but it’s very widespread.

 Question asked and answered at our family’s day 2016

How can you prevent behavioural issues from feeding difficulties?

From early on, my child had feeding difficulties and from that there has been an impact on language development and behaviour with food. Is there any advice?

It can be difficult getting a child to feed who might not be able to feed well or who has an aversion to feeding. It can become a bit of a family struggle and there can be a behavioural aspect developing from it. It’s useful to break down exactly what the problem is because it may be an immaturity in terms of swallowing, sometimes it can be tongue-thrusting – when you try to put food in, it’s pushed out. By analysing that, you can sometimes come to a programme of treatment with the therapist which will improve the feeding. 

One parent found that giving a child with the tongue-thrusting issue, spicy and highly-flavoured food eventually led to him starting to enjoy his food although it took time. Speech and language involvement is extremely helpful for a personalised plan.

Question asked and answered at our family’s day 2015

Is a high calorie diet sensible to promote weight gain?

Our son with Noonan’s hadn’t put any weight on for 2 years although he is growing. The dietician had said to put him on a high calorie diet, basically to give him as much fat as possible can. Was this the best thing to do?

Usually the first and most crucial question when a child’s weight wasn’t increasing, was whether the child was growing. Many young people with Noonan Syndrome were lightly built. There are many issues to consider with diet as a balanced diet is usually preferred and there is also the issue of the lymphatic function in coping with fatty foods which can be compromised in some people with Noonans.

Question asked and answered at our family’s day 2015

Is dehydration from reflux common?

A friend has been diagnosed with Leopard syndrome and she is now thirty years old. She has reflux and sometimes she can’t eat for about seven weeks. She goes in and out of hospital because of dehydration. Are these problems common?

Cyclical vomiting and spells of dreadful sickness are some things that we have recognised in some of our patients with CFC and Costello Syndrome in particular so that probably suggests that it happens for some people with Noonan Syndrome too. The treatment of cyclical vomiting in general is very difficult. A gastroscopy is required and in severe cases further investigation. If this a new onset of needing Oxygen and being unable to tolerate food it needs to be treated as seriously in her as it would be in any thirty-year-old and not be dismissed just because she has a syndrome. We have seen in Costello Syndrome people get development of new reflux, secondary to a chiari malformation in adult life so if she hasn’t had a brain scan with imaging of her posterior fossa, that might be worth doing.

Question asked and answered at our family’s day 2018

Is there research on long term PEG feeding?

Is there research into children who are tube fed longer term e.g. at age 11 and is this physiological or behavioural. 

At the present time, research was at the stage of looking at patient surveys and considering anecdotal evidence as to what works. For some families the introduction of a blended diet through the peg tube seems to have been effective but there was no hard and fast rule and it was very difficult. It seemed certain that feeding and speech difficulties were closely related and to get anywhere with research, it would require psychologists and speech and language therapist all working closely together.

Question asked and answered at our family’s day 2015

What causes the feeding issues in Noonan’s?

Do we know what it is about the Noonan’s that causes feeding issues? Is it because of the small stature that they don’t need as much to eat or is it because they don’t eat as much and they’re bad eaters generally speaking and then that’s why they have a short stature?

We did originally start looking at the feeding difficulties and it’s almost like a neuro-muscular in-co-ordination – small children can’t chew and that’s later sometimes in children with Noonans where there’s a delayed maturation. There’s also sometimes a problem with the sensation of food in the mouth and the children will sort of “tongue-thrust” and push the food out. But I think it’s basically a neurological control of the feeding; it’s not because they’re small and eat less, and they tend in most cases to get enough nutrition in but will be cases where you need to tube feed children with Noonan’s to begin with and that group needs quite careful follow up from the nutritional point of view .

 Question asked and answered at our family’s day 2016

When do children with Noonan’s typically start eating if they are PEG fed?

We have a 4½-year-old daughter with Noonan Syndrome who is currently PEG fed. She’s happy to play with food and sits with us when we’re having meals. I just wondered what the range is that’s normal for Noonan kids who are not eating to start, and ask if there are any tips that may help them towards eating. Her gene change is K-Ras.

Of the K-Ras patients we’ve met across the years, they have had more prolonged and more severe feeding difficulties than is typical for Noonan Syndrome. I don’t know if that’s something that’s been obvious to you for a while from your meetings with professionals, but some people with K-Ras gene changes have been described originally on a clinical basis as having CFC syndrome and the need for PEG feeding would push you towards a diagnosis of CFC. It is unsurprising to me to hear that it’s K-Ras that she might have because we have seen other people with K-Ras changes who have need a PEG for four to six years. If we look at the example of Costello Syndrome where nearly everybody ends up with a PEG, it’s very unusual in Costello Syndrome not to be feeding by age eight. I’ve only ever met one patient out of say seventy or so who wasn’t feeding at age ten, so it’s a question of expectant optimism, even though it’s quite hard to understand, we don’t know why feeding is such as issue. It’s worth saying that a lot of parents will have experienced some feeding difficulties but not on this scale, and there are some useful tips from speech and language therapists about trying to encourage certain flavours to help get over the tongue thrusting that’s very difficult in the early stages, and we certainly have had sessions in previous meetings on feeding difficulties so it’s maybe something to think about for other meetings in the future.

Question asked and answered at our family’s day 2018