Rheumatology FAQ

Are chest deformities linked to Noonan’s?
Our son was diagnosed at the age of 8 and he has a severely concave pectus or chest. Is this purely an aesthetic issue as the specialists say? Should consideration of treatment wait till he reaches puberty or older so that it’s his decision and is there a relevant connection with Noonans? The panel’s understanding was that this was generally and usually a cosmetic issue rather than something that would cause a problem with the heart. It’s very unusual for such a condition to compress the heart and cause a problem. Occasionally problems with the chest wall can cause problems with lung development. The chest wall continues to develop as the child grows so it’s often a good idea to wait until the child has stopped growing before making a decision. Question asked and answered at our family’s day 2015
Are night pains ‘growing pains?’

Our 4-year-old son has pains in his legs and arms and can wake up screaming in the night because of this but that the medical response was that they were just “growing pains”. Is this the case? 

This was a fairly common issue, especially in adolescence when there could be a lot of muscle and joint pain. A small study in the past didn’t show that there was any underlying problem which would cause long term damage. In most cases, the symptoms respond to normal analgesics such as Calpol or paracetamol or sometimes even a physical thing like a hot water bottle eases the local pain. It does tend to get better with time. It’s a question which needs more research but at the moment the specific cause can’t be pinpointed. There is a suggestion that many people with the condition are vitamin D deficient although in at least one case, treating this didn’t seem to alleviate the problem.

Question asked and answered at our family’s day 2015

Could leg pain at night be Lymphoedema?

Our son gets leg and foot pain in bed which is relieved by Calpol and hot water bottles, could this be connected to problems in the lymphatics?

Lymphoedema is not usually painful – you may get a bit of discomfort particularly if you’re on your feet all the time, but as a general rule it’s not going to cause pain so if there’s no swelling, it’s just pain so I don’t think so. We do get quite a number of children who seem to get joint pains in the teenage years and we’ve often puzzled about that. There are various theories but it doesn’t seem to be progressive and damaging arthritis and it does seem to improve with time and to be resolved with local treatments and with things like Calpol and paracetamol. At the American meeting in Seattle in July, support groups – CFC, Costello, NS – made presentations and all raised this issue of pain so I think it’s very common across the pathway and I think it’s very poorly understood but an American research group has recently got a small amount of funding to start looking at it.

Question asked and answered at our family’s day 2015

Do vitamin D supplements help leg pain?

I suffer from leg pains at night and I know it has been mentioned that vitamin D deficiency could be associated with this. Is there any more evidence that this is correct? Is it advisable to supplement vitamin D? What are the other possible treatments, for example massage, Calpol?

Low vitamin D levels are very common in the UK mainly because you need to spend at least 8 hours a day out in bright sunshine in order to have adequate vitamin D levels. Vitamin D levels are even lower as you go north, to Sweden and places like that. So, if your child is under the age of 5, they should really be taking some sort of vitamin supplement if they’re fussy and not eating well. Leg pains are very common in childhood so what I always recommend is that you go and try just going onto normal vitamin supplements. If leg pains persist, particularly if leg bones start looking bowed or bent, that sort of thing, then it’s worth getting Vitamin D levels checked. But your vitamin D levels really have to be quite low to get a high dose of vitamin D to bring them up again – it’s better in childhood to make sure you take your childhood vitamins. And then the other thing is to try to spend some time outside and then have a diet that’s got plenty of vitamin D in it – things like eggs, fish, vegetables – all those things that children like eating! 

Question asked and answered at our family’s day 2016

What causes muscle fatigue and pain in Noonan’s?

Is there an explanation for the muscle fatigue and the aches and pains post exercise that seem to be associated with Noonan’s?

This is something that occurs across the whole Rasopathy pathway and it’s been very slow to come to the forefront of the medical community but it is the subject of ongoing research. People wonder if there’s intrinsic differences in the muscle and in the meeting we’re having in Milan in June there’s quite a big section on energy metabolism and muscle issues so I think we will get some understanding of it but all we can say now is that it’s real but we don’t yet understand the actual physiological basis for it. From the point of view of Neurofibromatosis Type 1 that is obviously different to Noonan Syndrome but another disorder of the Ras MAPK Pathway, we have a pilot study that’s just starting in Manchester about fatigue and we did a scoping exercise with a Google-based questionnaire and had a fantastic response very quickly. That’s been catalytic to us having an observational study of fatigue piloting an intervention about things that might improve muscle stamina in due course in a group of people who have NF1. If that’s successful it could have implications for other disorders of the pathway.  

Question asked and answered at our family’s day 2018