Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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The Cheek Family

The Cheek FamilySebastian was born on 12th February 1997 as born by caesarean at 6.59am, Daddy was the first to see him as I'd had an anaesthetic. Supposedly a perfectly healthy little boy, we went up on to the ward as normal.

Sebastian wouldn't feed and during day two a senior paediatrician was sent to see him due to his colour turning blue. He advised that he went in to special care as he was concerned about his heart. Although concerned and worried nothing really had sunk in yet as I was still recovering from the operation.

On day three Sebastian and Dad went to the John Radcliffe to have an echo done on his heart. On their return Dr Brown explained that Sebastian had truncus arteriosus which meant the blood was being pumped the wrong way round his body and that he had a hole in his heart. He suspected that he'd have the first operation at around six months old providing that he put on weight during this time. Blood tests were taken and Sebastian had DiGeorge Syndrome, a deletion of 22q11. Tests were done on Paul and I and it was found that I had the deletion as well.

Sebastian didn't put on any weight despite the decision to feed him by an NG feeding tube, a procedure we learned to do in-case we got to take him home. Sebastian was given spirolacton and frusimide to help with this heart. We had a short visit to the John Radcliffe (JR) with a query over a twisted gut, but which should have needed an operation, but when we got there a scan was done and everything seemed OK, so back to Stoke Manderville after a week. Dad called Sebastian a "baby in a box", as he lived in an incubator most of the time. We were able to bath him though, which was the closest we got to having a real baby.

Sebastian went in to heart failure and was given digoxin help and an operation date was set for March 18th.

March 18th - (The Longest Day of Our Lives)

We'd been transferred to JR and we lived there until April 31st. Sebastian was the first on the list and we took him down to the anaesthetic room at 9.00am. I was the last to see him as only one person was allowed in. It was the hardest thing we've ever had to do to say goodbye. We took some toys down to intensive care for him, and then went to the chapel to pray. Our faith and support from family and friends kept us going that day. We spent some time in Oxford and met my Mum and Dad at lunchtime. We finally got news that Sebastian was in intensive care at 4.30pm. We wondered down the corridors, we had to wait outside which was something we quickly got used to doing, it became part of the nightmare, long yellow corridors with notices of "when a child dies" all over the wall.

Sebastian looked grey when we first saw him. All wires and a plastic bag over his feet, we were warned what to expect but nothing ever prepares you. I feared the worst; he looked terrible. Alarm bells sounded and we were sent out. Dr Archer came to explain that Sebastian was rejecting a shunt, which had been put in to help him come off the bypass machine, which was why they'd been in theatre so long. They'd have to open him up again and take it out and see what happened. We had to go away for an hour while they did it.

Everything went okay and the next time we saw him he looked a lot better. Mum and Dad went home and we kept everyone informed over the phone.

Sebastian caught a staphylococcal bug in one of his lines and had to have antibiotics given into a vein, which caused us a longer stay in hospital. Sebastian also kept being sick violently and feeding remained a problem. Things were touch and go through all this time, we were on the ward then back to intensive care and back on to the ward. Sebastian had to have a blood transfusion and was amazingly pink after this.

We finally got to take Sebastian home on 31st April and had another quick stay in hospital to take him off his antibiotics, which was a relief as we had about 20 medicines a day which we were giving him plus hourly tube feeds.

We tried to make sure that Sebastian led as normal a life as possible, we took him everywhere we went and listened to people comment about his tube, or pulling their children away from him for fear they might catch something. A tape would have been a good idea to explain what was wrong. We tube fed him in strange places and medicines too; people just had to get used to it. We managed despite continuous weight problems, being sick and recurrent chest infections.

April 15th 1998

I called out the doctor for Sebastian in the afternoon and he came after surgery at about 6ish. Sebastian had another chest infection but it somehow seemed different this time. The doctor arranged for the ambulance to come. I rang to let Paul and family know we were going to Stoke Manderville again. We were in Accident and Emergency for ages and by the time we got on to Ward 14 Paul had arrived. They thought Sebastian would only be in over night, so Paul went home and let everyone know. During the night he took a turn for the worse, he was restless, tossing and turning. They gave him something to calm him down and said that he'd have to be transferred back to the JR the next morning.

We arrived at JR and were admitted to intensive care; they started some different antibiotics and said he'd probably go back on to the ward the next day. During the night however we were called to say he'd been put on a respiratory machine to help him with his breathing. Things went from bad to worse after that. Sebastian wasn't reacting to his drugs and his body organs started to fail.

On April 18th Dr Archer came to talk to us in the parent's room and explained that if he didn't improve within the next 24 hours we'd loose him. All we could do was pray. We rang and let everyone know. Mum decided it was time for her to come and stay, we desperately needed her there. Sebastian remained the same, more bad news. Dr Archer came to talk with us again, they were going to try to fit a kidney dialysis machine, which could be tricky and would take an hour. This was Sebastian's last hope.

This was the longest hour we ever sat in the hospital chapel holding each other, everyone was cold and we prayed and trembled together. All I could see were little white coffins and I felt sick. After the hour we went down to see what had happened. Everything had gone okay and we had to pray for a miracle over the next 24 hours. We all sat getting excited over the tiniest amounts of urine and taking it in turns to empty the bag. Sebastian had survived all the odds and although the next few weeks were touch and go we went back up on to ward 4B and after five weeks we went home.

It was like taking home a newborn baby. Sebastian couldn't even play with his play gym, which he had loved before. A physio came to see Sebastian weekly and a play specialist to try and encourage him with his feeding. We had been advised that because his organs had had to work harder Sebastian would need to have another heart operation to replace his valve soon.

A date was organised for cardiac catheter that June and I took Sebastian Knowing how serious an operation it could be. He coped with it really well though and it was confirmed that the valve was covered with calcium and an operation date was to be organised.
The Cheek FamilyJuly 15th. We took Sebastian in the night before the operation. He was quite well and had started crawling again. He was first down and was expected to be gone between 4 to 6 hours. We spent some of the time in the chapel and wondering around the hospital. Mum met us at lunchtime. Just as we were going to lunch a nurse met us and said that Sebastian was back in intensive care. We were shocked, as he'd only been down three hours.

We met Dr Westerby for the first time (surgeon); He was really pleased with the operation and had managed to plug in a really strong valve. Sebastian has sailed through and he could foresee no problems. Mum went home relieved and let everyone know. We were in hospital for just two weeks and during this time we met the feeding team who suggested he be given omeprazole and domperidone to help with his sickness. Also Sebastian had Nutrini Extra with Duocal to help with his remaining weight problem

After this operation Sebastian has never looked back. He started walking on 11th August 1999, the day of the eclipse. I also found out that September that we were expecting our second baby. Sebastian started special needs nursery, which he really loves as is now beginning to learn sign language as he cannot talk yet. Sebastian's feeding tube finally came out in February 1999 after we caught him drinking bath water and although he still struggles with eating and drinking it was worth it. It would have been hard work still doing tube feeds and breast feeding a new baby.

BENJAMIN was born on 7th May 1999 perfectly healthy (with DiGeorge Syndrome). We knew his heart was okay as we'd had scan done at JR. Benjamin has had two proven urine infections and is more prone to chest infections than Sebastian who now has a ventolin inhaler twice a day and has been a lot better since this. There's a query about Benjamin's immune system and we have an appointment at the end of April.

He has been assessed and early years learning are now involved. His talking and understanding has been assessed at 9 months and personal skills at 12 months, everything else was between 18-19 months. He is now 23 months old. His hearing is down on both sides and we are awaiting an appointment for ENT to decide whether or not to do grommets. Sebastian also has glue ear on one side.

Sebastian has now been statemented. He is no longer on any heart medicines but takes vitamin supplements. He is still on Omeprazole and Domperidone and takes lactulose because of problems with constipation. He still has Nutrison but now takes Polycal instead of Duocal, which tended to give him diarrhoea

Both boys are very loving and teach us so much every day. We are grateful that they are both well at present and although we know we still have tough times ahead we will face them with the help of our faith, family and friends.
The Cheek FamilyI, myself, have never really had any problems from DiGeorge Syndrome. I have a slight murmur, which has not caused me any problems. I struggled to put on weight as a child this is not a problem now at 9 stone and 5 feet tall. I used to suffer from constipation. I struggled at school, but did really well at college and achieved a Diploma in Business Studies. I have never been out of work until the children were born and now all my time and energies are spent on them, the house and my husband.

I wrote our story, really to give families in similar situations hope that the future can be good. If anybody would like to contact us my number is available from Julie Wootton.

We would like to say a special thank you to our families, as without their help we wouldn't have got through.

Nicola and Paul Cheek