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


Adam

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Paddy

Our little ray of sunshine

Paddy aged SixSitting here in Great Ormond Street Hospital (GOSH) in London, for yet more tests and investigations with our magical little man. We finally feel the time is right to write about the rollercoaster ride we, as a family have been on for the last six years. Paddy is the middle of three children. He is six years old. His elder brother Finley is nine years old. His younger sister Phoebe is two years old.
Paddy at DiagnosisWhen Paddy was born (at 36 weeks), he was very pale and quiet. He was the most beautiful baby, he used to look at me in such a deep and understanding way. He never cried and was very difficult to feed. He used to drink 1 oz of milk every hour, but would take about half an hour to drink it! It felt like we were constantly feeding him. We didn't let anyone else hold or feed Paddy. I knew something serious was wrong with him. At three weeks old we took him to the GP worried about his breathing. It was fast and laboured. We were given saline to put up his nose.

At the six week check, the GP told me Paddy had a heart murmur and needed to go straight to hospital. It was the most frightening journey of my life. I was driving, crying, and trying to hold his hand in the back! The murmur was confirmed but not life threatening. But the worst was still to come. At eight weeks of age, he caught a cold which led very quickly to bronchiolitis and we nearly lost him. Trying to get a line into him was so traumatic, as he had no visible veins. They tried for hours and even tried in his head! We remember feeling totally helpless. Paddy was crying with pain for so long that it was too much to bear. We remember when he was at his worst, we were nervous wrecks sat in the corner of the room, while nurses and doctors surrounded him trying to make him breathe. The intensive care ambulance was waiting outside as Paddy needed to be transferred to another hospital with a Paediatric Intensive Care Unit (PICU). Continuous Positive Airway Pressure (CPAP) was given to try and help Paddy to breathe, and by some miracle he did! However, after 11 days of being bed bound we finally picked him up! But what a shock, he had a badly misshapen head as he was lying in the same position for 11 days. We took him to a cranial osteopath, despite the fact that the medics told me nothing could be done. Paddy couldn't move his neck properly. When the osteopath had restored full movement in Paddy's neck, we took him to a private clinic in London to have a helmet fitted as his head was still severely misshapen. He wore a plastic white helmet for 23 hours a day for more than a year! We used to get lots of looks when out and about. And lots of disapproving comments from medics when we were in hospital. We weathered the storm and were delighted when it was removed.

Our precious baby was lying there with wires and machines everywhere!

Paddy after heart surgery one year oldIn the following months Paddy had constant recurring chest infections including pneumonia and bronchiolitis again. Every time he was hospitalised and needed oxygen. The difficulty leaving Finley at home was almost too much to take, but Paddy was so poorly. Paddy was given anti reflux medicines and different formula milks to try and help the constant nasal regurgitation.
His heart needed surgery, but they were waiting to see if it would close on its own. Just before the surgery, the cardiologist asked if he could test Paddy for a syndrome called 22Q 11.2 microdeletion syndrome or VCFS or DiGeorge Syndrome. There are 180 known medical conditions associated with the syndrome. The cardiologist assured me that he was 99% sure that it wouldn't be positive, but he didn't want to compromise him in theatre if it was positive. Two long weeks later on a Friday afternoon, the call came. At just 10 months old, Paddy was diagnosed with 22Q. We were totally distraught. It felt like the world was crashing down around us. I had a house full of friends. I remember walking around the garden on the phone, just sobbing. We were going to meet the consultant on Monday morning at 9am. It was the worst weekend of our entire lives. The whole family spent the weekend trawling the internet reading horror story after horror story. By the time Monday morning came (and we hadn't slept) we had a list of questions and things we wanted Paddy checked for. These include palate malfunctions, submucous cleft palate, calcium levels, immunity and speech. We had a family wedding a few weeks later, and I remember being an emotional wreck! He still wasn't feeding properly and the nasal regurgitation was dreadful. Not just liquid, but food now too! We spent our days going from hospital to hospital for various appointments.

Two days after his first birthday Paddy had open heart surgery. They struggled to put a line in him again. So we asked them to stop and asked to see the anaesthetist, we asked for a gas induction. They could then put a line in when he was asleep. The anaesthetist agreed. We got a phone call after what seemed like days of waiting. We walked into PICU and the sheer emotion was overwhelming. Our precious baby was lying there with wires and machines everywhere! We spent some hours with him, before we were asked to leave as he wasn't passing urine and they were concerned. After an hour outside we went back in, but before we were supposed to. The curtains were round him, and so were six doctors and nurses. We thought they had lost him. They said he had to have another general anaesthetic as they needed to insert a catheter through his tummy. After a few days he was back on the ward and was allowed to drink. His first drink was a whole cup of water. We just couldn't stop him from finishing it, he was so thirsty. The noise in his stomach was unbelievable and we all thought he was going to be sick. Everyone stood back and he let out the most humungous burp, then smiled, we remember thinking that we had our little boy back at that point. The next day he sat up unaided for the first time! He was so much stronger straight after the surgery.

After a week we went home, Paddy started to crawl. But by 18 months old, he still couldn't speak. He made grunting noises. We started signing with him, to help to prevent frustration, and he was amazing! By the age of two, he had mastered signing 'chocolate cake please!' He had an operation on his palate to try and straighten out the muscles, which didn't help the speech. He had weekly speech therapy sessions. These were sometimes local, but sometimes a two hour drive away which was really hard work. We worked at home on sound production four times a day and no improvement after a year, was depressing. Our poor little boy, couldn't communicate with anyone who didn't sign. Going out was a real challenge. People would see us sign to each other and ask 'How long has he been deaf?' or 'It must be hard for you.' But Paddy wasn't deaf, he just couldn't speak. In the end I found it easier just to smile. I didn't want Paddy to have a complex about it.

At the age of three Paddy still wasn't feeding properly and was regularly sick and choked a lot. We were told that there was an operation they could do, to reconstruct his palate, which should help with speech. But, he needed to have a 'talking x-ray' in order to determine exactly how his palate moved, and what changes the plastic surgeon needed to make. The next few months seemed like a constant battle to try and get him to sit still and talk in training for this 'talking x-ray'. We were still having speech therapy and saw no improvement.
Paddy and FamilyAt this time I remember having very emotional conversations with my husband about the future. It was hard to think straight, but we decided to have another child. Finley used to think that all babies had tubes and operations. He had no normality in his life. I very luckily fell pregnant quickly. Speaking to geneticists, we decided to have a cvs test to determine whether the baby also had 22Q. I was so poorly in pregnancy. I had hyperemisis gravardium (severe sickness). I spent three days every week in hospital on a drip and four days at home in bed for 20 weeks! I began to think this was a bad plan after all. I was totally useless, in fact I was a burden. I used to worry about the unborn baby and all the drugs I was taking and about Paddy's speech therapy. My husband and my parents took over the care of the boys. The cvs test was so traumatic, I was so poorly and we went to London to have it done. We asked for the results to come back altogether. The 22Q test takes longer than the other chromosomes they check. So, the long two week wait started. But after three days we were told that the other chromosomes that were checked were normal. I was so upset, as we felt like this was false hope. Finally on December 13, the geneticist phoned with the results. We were so shocked that the baby was fine, and it was a girl. We were so delighted, and once I felt better, we were all looking forward to welcoming a little girl to the family. Finley had been so desperate for a sister, he felt like we were doing it for him, which we were! During the pregnancy Paddy finally, after lots of battling, had his 'talking x-ray' and it was decided that he needed the velo pharyngeal flap operation on his palate.

Baby Phoebe was born three months before Paddy was four years old. She came out screaming, which made me rethink Paddy's birth. He was so quiet and still. She was just three months old when in October 2011 Paddy had the surgery. We were all so excited that he would start to talk! We were told that the operation wasn't always successful and they wouldn't be able to say if it was or not, for two years. We remember feeling crushed. I'm an early years teacher and I knew how impossible it would be for him to catch up on four years of friendships and speech when he was six years old. And that's if the operation was a success. The operation went smoothly and the surgeon was hopeful. We had a break from speech therapy for three weeks, which felt like a holiday! Holidaying was something we just couldn't do as a family as Paddy was too poorly. His low immune system meant regular antibiotics, his heart needed regular monitoring and he couldn't be exposed to infectious diseases.

After Phoebe's first Christmas, which was lovely, Paddy still had no speech (and he was four years and three months old). My amazing parents went to The Gambia to do their development work for a month. When they returned, they phoned and Paddy answered, he said 'hello!' They thought they were talking to Finley. But Paddy had started saying a few words. He went from strength to strength. We were having regular speech therapy and it was a success. Something we only dreamt of. We got him a statement to start school with. Paddy had a communication aid and needed speech therapy. Some professionals wanted him to go to a 'special' school. But we wanted him to go to school with Finley. Paddy was improving so fast. He started school in September 2012 with his communication device and a big smile! We were so nervous, but he seemed to excel. In fact, we had to have a meeting with the staff to tell them his recent history as we think they thought we were fibbing! We had to show them a video we have of him reading 'The Gruffalo' a few months previously, no words were recognisable.
Things were finally starting to become a little bit more normal in our family. We even went on a little holiday, which was fabulous. Paddy is the kindest, gentlest six year old we have ever known. He is genuine, loving and our little superstar. He now doesn't need his communication device, and we don't have any more regular speech therapy! He can read and write as well as talk! In fact, he doesn't know when to stop! It is wonderful to see the relationship between the three children. Finley is still very protective of Paddy, and they both adore Phoebe. When Phoebe is told off, Paddy says 'You can't tell her off, she's only two, she doesn't understand!'
The most remarkable thing is that at school Paddy has been graded 'A' for attainment and effort in personal, social and emotional development. Which I believe is the most important part of learning and growing up. He has self-confidence, and self-belief. In fact, he'll talk to anyone! That's not to say that there won't be challenges and hurdles in the future, but just now, we feel very blessed. How can it be, that a child who has been through the things he has been through, could turn out to be so magical and well-rounded? He is our little ray of sunshine. He makes everybody smile.

If you can relate personally to this article, please don't give up. There are others going through the same as you, and there are plenty of people willing to help.

Amy and Bruce O'Connor
(Proud Mum and Dad of Finley, Paddy and Phoebe)