It was at our twelve week scan when an increased nuchal translucency was identified with a measurement of 5.1. A bit panicked a CVS was performed which came back with no major trisomies and further 20 week foetal cardiac and anomaly scans at Kings hospital were all clear. Benjamin was born on ay he was born from his features. In September 2011 we received genetic confirmation of Noonan’s syndrome with a mutation of the KRAS gene. In 2014 this diagnosis was changed from Noonan’s syndrome to CFC syndrome.
Benjamin was discharged from hospital at 7 days. After 5 days at home Benjamin would not feed and despite hours of attempting to bottle feed, the very small amount that he did take he would vomit. He lost in excess of 20% of his body weight and was readmitted to hospital where an NG tube was administered and subsequently pump feeds were started. Benjamin was discharged with pump feeds of high calorie milk including continuous overnight feeds and anti-reflux medication. Although we had a clinical diagnosis of Noonan’s syndrome, we have to be honest and admit that this was poorly understood and we certainly had a lack of awareness of the significance of his cardiac condition.
At one month of age, in February, after being home for less than 10 days, Benjamin became very unwell. We took him to our local hospital and he was admitted him straight away, he was in heart failure. He was incubated and retrieved by blue light to the PICU at the Evelina. An echocardiogram in PICU showed that his cardiomyopathy had become much worse. The worrying thing was how quickly this had happened. After three days in PICU Benjamin’s cardiologist came and we were told that Benjamin’s heart was failing and that without the ventilator it would be unlikely that his heart would cope. He had spoken with Dr Mike Burch at Great Ormond Street Hospital and was told that the trend with Noonan’s was that things become better with time and those children with cardiomyopathy that survive a year go on to do well, the critical time is past. The problem with Benjamin would be nursing him through the year. They said that he needed to be transferred to the heart transplant clinic under the care of Mike Burch. After this devastating news Benjamin was taken off the ventilator and transferred to the ward, we then received blood results from cultures taken when Benjamin was first admitted. These showed that Benjamin had Listeria Sepsis, and this serious and very rare blood infection was therefore now considered the cause of the deterioration of the heart. A lumbar puncture then confirmed that this infection had crossed into the brain and Benjamin had meningitis. IV antibiotics was given, these settled the blood pressure and allowed the Beta blocker to start to be increased. A central line was put in under anaesthetic and a 6 week course of treatment for the infection was started which was completed at home. Benjamin was transferred to the heart function / transplant clinic at GOSH with fortnightly reviews and continued with monthly appointments at the Evelina. He remained stable under close medical management when in March 2011 Benjamin again became very unwell. He was blue lighted back to the Evelina in shock with hypothermia. On admission in shock he was resuscitated with fluids and taken to recovery. A bed in PICU was saved. Blood cultures diagnosed another serious sepsis infection. Further investigation suggested endocarditis but this time the lumbar puncture was negative. A long line was fitted and a six week course of IV antibiotics was started. Three weeks into the course, routine bloods showed Benjamin had neutropenia. This was thought to be secondary to the antibiotic. The antibiotic was altered and the blood results slowly returned to normal.
The beta blocker management was successful in stabilising the cardiomyopathy. Benjamin was transferred from Propanalol to Atenalol in March 2011. Benjamin was discharged from the GOSH transplant and heart failure clinic in June 2011.On April 13th 2015 Benjamin underwent cardiac surgery to relieve a LVOT and repair of mitral valve. This was a successful procedure. He remains on Atenalol once per day. Benjamin now has cardiac reviews only at the Evelina every four months to review the valve to ensure it does not regress.
Weight wise, in the early days Benjamin continued to vomit during and after every feed. We continued with the slow pump feeds of infatrini with overnight continuous feeds plus bolus feeds. A peg was inserted in December 2010, and Benjamin’s reflux improved overnight. He remains on high calorie feeds and he can eat smooth purees. We hope with time to increase his oral intake and reduce the high calorie feeds.
From a developmental perspective, Benjamin has global developmental delay. Benjamin smiled at about four or five months, sat independently at thirteen months and rolled at eighteen months. At nineteen months he put weight through his legs into a standing position (with support) when lifted up. He crawled at 25 months and began stepping with support at 28 months. Benjamin is now in a wonderful special school that is completely appropriate for his needs.
Benjamin’s delay is thought to be a combined effect of the CFC syndrome and his two severe infections and prolonged time in hospital in critical care when he was young. Benjamin is now due for eye and ENT surgery to correct a squint and remove his tonsils. He is on a regular prophylactic antibiotic for recurring infections. Despite his problems Benjamin is a happy and very brave little boy and he is much loved and admired by all who are involved in his life.