Amelia was born 2 weeks early via emergency C-section after a pregnancy riddled with complications, all of which were harder because it happened during lockdown. A heart murmur was initially picked up at birth but at her 6 week check the murmur had apparently gone. It wasn’t until June 2021 on an overnight stay in hospital because of bronchiolitis that her murmur was picked up again. The consultant at the hospital classed it as grade 3 because it could be heard front and back. A referral was made to the Children’s Heart Unit at the Freeman Hospital in Newcastle to get her checked, but it would not be until October 2021 before we got the diagnosis. Before we received the diagnosis another bout of bronchiolitis resulted in another overnight stay in hospital to monitor her.
In October 2021 Amelia attended the Freeman Hospital, where she had ultrasounds of her heart as well as an ECG before the cardiologist diagnosed her with pulmonary value stenosis. We were told she would need surgery, either a balloon procedure or open heart to repair it. Because she was asymptomatic at the time they wanted to review her again in 6 months. Before leaving the cardiologist mentioned they wanted to refer Amelia for genetic testing as they suspected she had a rare genetic condition called Noonans Syndrome.
In April 2022 Amelia attended her initial appointment for genetic testing with her dad. We have been told it could take 6 months to 2 years before we get an official on paper diagnosis of Noonans Syndrome but her geneticist is so sure she has it. He has even told us which version of Noonans he thinks she will have. He thinks she will be diagnosed with PTPN11 strand and whilst that is the more mild strand, it still comes with additional issues.
Amelia attended her next heart check with her mum in June 2022. Her pulmonary valve stenosis has stayed the same since we were last there and because of this and the fact she is still asymptomatic they have moved her to yearly monitoring. Because of her potential diagnosis of Noonans Syndrome, when she does finally need surgery to fix her heart the less invasive balloon procedure is less likely to work so it will be weighing up if it will be worth it nearer the time.
Amelia has also since been diagnosed with low muscle and has been referred to the community paediatrician where we are hoping for further referrals for the dietitian and the ear, nose and throat specialist. We are hoping for a dietitian because she struggled to eat food and the ENT because she is very clumsy and falls over very easily, often banging her head. The low muscle tone, food struggles and clumsiness are all likely to be related and due to her having Noonans Syndrome.