Six years ago when Owain was born, I had never heard of Noonan Syndrome and was eagerly expecting the birth of my 2nd child.
Owain was born one very snowy day in February 2009 and I was not concerned about his heart murmur as his daddy had had one as a child that had gone away. A few weeks later his heart murmur was confirmed as pulmonary valve stenosis and the doctor asked if some bloods could be taken for genetic testing.
Life with a rather sickly new born continued and at 4 months, we took Owain to see his cardiologist for the first time who confirmed the pulmonary valve stenosis to be mild/moderate and not a concern. At this time Owain’s genetic test was back, which showed Owain had the PTPN11 variant of Noonan Syndrome. We were given an A4 sheet printed of the internet of information and sent on my way.
We then went to see the geneticist who confirmed what we suspected that my husband Keith has the PTPN11 variant too, which explained why Owain looked so like his dad.
I very quickly realised that if I was going to find out about Noonan’s I would need to research it myself as even his paediatrician admitted that he just could not know about every syndrome. Our biggest issue in the first year was Owain’s failure to thrive, and reflux which led to me breaking down in our local hospital and asking them to admit him or I would leave him in the hospital – not one of my proudest moment but as a lovely nurse said at the time, families can only take so much. They placed an ng feeding tube and tried to increase the amount he was eating but this actually made the reflux worse and we spent much of the first winter in and out of our local hospital – not the life his big brother Josh was expecting when we had Owain. Eventually they performed a barium swallow study which showed severe reflux and we were referred over to Oxford Children’s hospital.
It was decided that Owain would need an operation called a fundoplication to stop the reflux and a g tube placed to provide him with nutrition as, at this point of 10 months, he was only around 14lb in weight and was so poorly. This operation turned out to be the 1st of 14 operations that he would have over the next 5 years, for a variety of things from g tubes, tonsillectomy, teeth removal, grommets etc. Owain 1st operation was awful as he was down 6 hours instead of the three we were told and when we were finally able to see him he was in the High Dependency Unit covered in wires but would be a turning point in his life – we were finally able to get nutrition in him and keep it in him.
Owain’s biggest challenges has always been eating and how his digestive systems works but we are now a year free from any nutritional support via feeding tubes. He still struggles but we have all come to the conclusion that there is no more we can do apart from allowing him to control how much he eats, so he tends to eat small meals and snacks and will always struggle with volume.
Owain attends a main stream school and since he has entered year 1, he has had the full 30 hours of support from his own TA. He started school still in pull-ups as with all the hospital stays and his global developmental delay he had not grasped the concept. This was sometimes an issue with school especially in Reception as we had not obtained his Statement by the time he started but finally he has done it in his own time and is now fully toilet trained. His Global developmental delay means in some areas he is developmentally at a three year old’s level which makes life interesting as we also now have a three year old called Finlay. The one to one support has made a lot of difference. Owain struggles with staying focused and having someone there to keep him focused means he is currently working towards being on the same levels of his friends. Owain’s health is as stable as it ever has been, his heart still has abnormalities but functions normally; his hearing has decreased as one grommet has come out; he still has a squint despite one operation to correct it; he regularly gets headaches, joint pain and we currently waiting for a referral for a sleep study as he most likely has sleep apnoea – but his love of life keep us all smiling.
Keith has always been mildly affected by the Noonan – hence only having it confirmed as an adult. He had three holes in his heart which had healed by the time he was 5. It was also predicted that he would only reach 4 feet in height but he is 5.7 so proved the medics wrong on that one. He is hard working and an amazing dad but struggles daily with joint pain but continues to work full time. In some ways not knowing about the Noonan Syndrome has been a good thing as he feels it has not prevented him doing anything but he still struggles with guilt about the fact he has passed it on to Owain and how much health issues Owain has had but I think that’s luck of the draw. There’s a huge variant within Noonan Syndrome even within families.
Family life is never boring and we are very used to a sudden appointment or operation, meaning children need to be left at grandparents and us off to another night in an uncomfortable hospital bed. We have also had some amazing experiences because of Noonan’s: Owain and I have had afternoon tea at the House of Lords and we all travelled to a big conference in Chicago in 2011 where we met many families with Noonan Syndrome and Dr Noonan herself. I have learnt that research is key, and also not to be ashamed about asking for help from charities and associations and our life has been made a little easier through the kind donations and the research done by organisations.