Living with Noonan Syndrome

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Andrea was four and a half when she had her first open heart surgery, having been diagnosed at birth with Pulmonary Valve Stenosis.
But it wasn’t until she was 16 that the Noonan Syndrome diagnosis came and tied in many of the characteristics she’d had as a child.

Projectile vomiting, difficulty with feeding and weaning; she struggled with maths and reading, whilst writing was painful for her hands.
She also looked different – she was short (as an adult she’s 4ft, 9in), has posteriorly rotated ears and a webbed neck.

But throughout her life, she’s learnt to live with her condition and at times, been overwhelmed by it – teenage years being particularly testing.
However, as an adult she’s realised that in order to live with NS, you first need to accept it and ‘let it in’ sometimes.

She feels that it’s important to understand the condition but that it doesn’t always have to be there, because there is so much more to her life than Noonan Syndrome.

Andrea isn’t defined by it, categorised or labelled by it, although it is an intrinsic part of her- she’s able live with it in the back of her mind, but she knows that there are times when it’s necessary to see it clearly. She believes strongly that the condition isn’t something that should be ignored.

Childhood

Andrea remembers a happy childhood where although she was different and had health issues, she looks back on her hospital stays with fondness – they were fun with lovely nurses looking after her.

A far cry from her parents’ recollection, which as a mum of two, Andrea now understands.

She was shielded from the risks, dangers and worry, she remained a child, simply enjoying the new experiences and people with wide eyes.
The teenage years were a different story though – one of her characteristics is being hyper-emotional and her parents had their hands full with a 16-year-old newly-diagnosed teenager.

Exams took her attention away from the condition for a while – she found that being busy was a good distraction.

A contributing factor to the hyper-emotional tendency is her inability to separate other people’s feelings from her own, absorbing theirs and taking it all on herself.

It didn’t stop her completing her qualifications though – she’s got a degree and a Masters degree in Autism and Education.

Adult life

As Andrea began to make her way through adulthood, the ‘Noonan box’ as she calls it, was re-opened, alongside the conversations and decisions she faced with her then boyfriend, soon to be husband Martin, as they talked about the possibility of having children together. The main question they had, was should they – given the risk of their child having the same condition and the potential complications for Andrea’s health during pregnancy?  

Martin’s initial response was that if their children were like Andrea it wouldn’t be a problem. However, whilst lovely, this is a naive response as people with NS can have a great variety of serious complications that are different to those of Andrea’s.

So they took time to research on line and to consult with professionals so that Martin could be as informed as possible about what the potential could be. Alongside gaining a greater understanding of NS they had been told that Andrea’s own heart had begun to show signs of deterioration and knew that  any decisions that they made about having a family would have to made with the support of medical professionals.

After four years of reading up, talking with each other and medical consultations Andrea’s cardiac consultant Dr. Thorne, a specialist in the care of women with congenital heart conditions hoping to have children, told them that she felt that Andrea was fit enough. And so, knowing that Andrea and the baby would be monitored carefully throughout the pregnancy, they started their family. Francesca was born first and Claudia 3 and a half years later, with Andrea’s second open heart surgery, carried out when their firstborn was two.

Both babies were checked for physical signs of NS in the genetics clinic and given the all-clear, but the gene which causes Andrea’s form of Noonan Syndrome hadn’t yet been identified so it was not possible to check her girls at this level.

The hunt for the gene

In 2017, Andrea came to our Families Day, which raised two issues for her:

The gene:
She needed to know which gene had caused her form of NS – for research purposes as part of the GenIDA Project.

Her children:
People with NS may not look like they have it and it might only be possible to identify some people who have NS through genetic testing– so perhaps her children could still have it too.
She entered into the NHS’s 100,000 Genome Project, hoping to map her genome and identify the Noonan gene; and then check her daughters once the gene was identified. The results have since returned without a genetic cause of Noonan Syndrome being identified. So the search is still on.