BiographyJohn was born in University Hospital of Wales in Cardiff. During the 20 week scan, doctors discovered that there was a problem with John's heart and we were sent to Cardiff for a proper checkup. Dr Uzun, one of the paediatric cardiologists discovered that John has Tetralogy of Fallot, which is a rare congenital heart defect (its actually a group of 4 defects: VSD, pulmonary stenosis, right ventricular hypertrophy and overriding aorta). We were told that this kind of heart condition is associated with Di George Syndrome but we would have to wait for the test to be done after John was born.
We spend next the few months driving to Cardiff every 4 weeks for regular checkups just in case John had to be delivered early. Every visit was heartbreaking, we were even asked if we would like to abort the pregnancy. Finally the day arrived and John was born naturally in April 2010. Unfortunately the same day, he was transferred to PICU and put into an incubator as he was born with some infection and needed antibiotics. We spent another week in the hospital waiting for John to get better so we could take him home. Unfortunately our happiness at home didn't last long. At only 11 days of age, John was rushed to Carmarthen Hospital with a swollen belly. Scans couldn't show what was wrong and we were sent on blue light to Cardiff where doctors were still not sure what was wrong and decided John needed emergency surgery. It took nearly 6 hours and only then we found out that John had a strangulated hernia which perforated his bowel and started toxicating him - a few more hours and John would die. While John was recovering after his operation we had results from the Di George Syndrome test. John was diagnosed with Di George Syndrome.
That started a massive line of appointments with all the specialists and more and more bad news. John's immunity level was only 10% of what it should be and he was put straight away on daily antibiotics. We found out he had a calcium deficiency and sacral dimple which could lead to some more neurological problems. Our biggest worry was his heart as we were told he could get blue spells and needing surgery at any time. Finally, when he was only 5 months old, the day of the heart surgery came. We had to drive to Bristol on 7th September 2010, spend a night there and then next day John had a 5-hour open heart surgery to try to fix his Tetralogy of Fallot. The operation was successful although the fix is not permanent and John will require another surgery in the future.
After his heart surgery, we were really hoping things will get better and he started to finally sit and crawl (before his heart surgery John would just lay down and do nothing apart from smiling). He had another 2 hernia surgeries but there weren't any problems. One of the most scary moments we had was when John caught a rota virus and ended up in hospital with severe vomitting. After only few days doctors let us go back home but then within just a day John got so dehydrated that we had to rush him back to hospital and we were told to say goodbye to him as doctors thought they wouldn't be able to save him. Our little boy didn't give up and after another week in hospital he was back home.
John is now 7 and doing quite well. His heart has worsened over the last 2 years, the right side of his heart is enlarged and struggling a bit but blood pressure is still satisfying and plans of another heart surgery haven't changed - he will need another one when he is a teenager. John's immunity is still low and he still needs his daily antibiotics, his calcium defficiency is still a problem as it is impacting on his teeth (as well as acid refulx he's got). Big part of Di George Syndrome is difficulties with learning and speech. John didn't start talking till he was five. It took a very long time for him to start making any sentences. We do have a speech and language team involved, they have helped us a lot and put John on the right track. In last few months he started to read very simple words and we are delighted by the progress he is making right now. Unfortunately one of Di George Syndrome aspects is behavioral problems and this seems to be the biggest struggle for us at the moment. Although we had help from specialists and we know how to react to his needs (he still has problems with expressing his needs and thoughts) there seems to be a big struggle with John at school where he would attack his friends and even the teachers when he gets distressed. He is scared of loud noises and light. Doctors are suspecting that John might be on autistic spectrum and most probably he has got ADHD. His sleep patterns are a big issue - he is on melatonin and circadin to help him sleep but even with those medications and he wakes up 5-6 times a night and not willing to go back to bed, putting a lot of pressure on whole household.
Despite this big range of difficulties, mental and physical, John is a happy boy who loves his family and his cars (his only obsession) and enjoys his life. We love him to bits and keep fighting for a better life for him.
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