Jacob was born at 34 weeks gestation, he was a big baby for his age weighing 5lbs 10oz, he was in neonatal for 12 days due to severe Jaundice.
At 9 weeks he went for a scan on his heart which is when we were referred to Birmingham Children's Hospital; he had his first scan there a few days later where they confirmed thickening of his heart wall (HCM).
Due to him being premature he was closely monitored by the hospital and was even tested for the most common gene of Noonan Syndrome which came back negative.
Jacob's consultant had Jacob seen by many professionals, he had CT scans on his head due to his head size and was monitored closely for his growth and development which were both behind.
His cardiologist requested further testing which is when we met the genetic consultant, they ran his bloods through a diagnostic and confirmed he had in fact got Noonan Syndrome.
Once Jacob had his diagnosis, he has received further referrals, he I seen by many health care teams and is closely monitored for his development too.
We see Jacob's cardiologist on a yearly basis but due to Jacob's lower immune system have snuck in extra visits here and there due to illness putting him in hospital, he is also on growth hormone due to his short stature and not producing enough himself.
He is currently stable and a happy child, he has started in a main stream school nursery, he will be seeing a speech and language therapist for a second time as requested by school which will hopefully assist in his social skills too.