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


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Naomi

NaomiPregnant for a second time, only the routine two scans were required and everything was quite uneventful (unlike my first pregnancy which required lots of scans and a F.I.S.H. test and my son Sean was born perfectly healthy). We joked that this baby would make up for it when she was born how prophetic!!

During labour I was completely caught out and I gave birth to Naomi on the driveway (luckily it was private!) with my husband, Robin, at hand to catch her 7lbs 8oz and seemingly healthy. Once the midwife arrived myself and Naomi were tucked up in bed and we thought the drama was over. Naomi slept for most of the first 24 hours and I looked forward to settling down to motherhood once again.

We were in rented accommodation having just moved from Scotland and about to move into our new home in North Hampshire, when Naomi was 6 weeks old.

Looking at our newborn, we were struck at how much hair Naomi had, she did not have the usual 'depression' in her top lip between the nose and mouth, her ears protuded and the midwife instantly noticed they were low set. She had long tapered fingers and her nose looked a bit squashed at the top.
NaomiOn the first day the crying started. I tried to breastfeed her but she really struggled to 'latch on', sucking in short bursts unable to feed and breath at the same time. When she did feed, it all refluxed back through her nose quite dramatically she was constantly hungry and very difficult to cuddle and constantly wriggling. I had to ensure that she was kept at an 45 degree angle to try and keep the milk down.

For the first year I was surviving on two hours sleep with a two year old to look after as well - I was shattered.

When we moved I immediately registered with the new doctor and at 9 weeks old Naomi had her check-up. Immediately the doctor picked up a heart murmur and suspecting a hole in the heart we were referred to the Children's Centre at Frimley, Surrey. There the paediatrician monitored her heart, checked her over and listened to our concerns about the reflux when feeding. Luckily, a cardiac consultant from Great Ormond Street Hospital (GOSH) was doing a day clinic at Frimley and agreed to check her out during his lunch break. Using an ultrasound, he quickly found a small hole in the heart of no concern but kept checking everything else and asking us various questions eg about how she was feeding.

I wondered what all this had to do with a hole in the heart and was impressed with how thorough he was. We later found out that both doctors had suspected DiGeorge Syndrome (DGS) immediately. During this consultation they found that Naomi's Left Pulmonary Artery (LPA) was not connected to her Main Pulmonary Artery and so she was functioning on one lung hence the breathlessness when feeding. The Consultant couldn't find the LPA but said it was rare to be missing so we were referred for further checks at GOSH.After several visits to GOSH they finally found the artery and decided to wait until she was at least a year old before operating.

In the meantime, on Christmas Eve, we received a letter informing us that our next appointment with the Paediatrician had been brought forward to the first day back in the New Year. Both parents were to attend and discuss Naomi's blood results. On arrival at the appointment Robin and I were both asked to give blood we were wandering what was going on. The New Year began with the news that Naomi had DiGeorge syndrome (later Robin & my results were negative) .

As the paediatrician gave us more information, I knew we were already lucky as Naomi hadn't had any of the serious medical problems at birth that some children had. We were also give the contact details of Max Appeal who provided us with a very informative handbook. Looking at the stories on their website, I was again relieved that Naomi's situation didn't seem to be as serious as others. Over the next few weeks we had test after test. Again we counted our blessings, she had both kidneys, her immune system was fine and everything else seemed OK.

At 13 months Naomi had her cardiac surgery at GOSH and the effect was immediate. I was amazed at the speed of her recovery her surgery was Tuesday afternoon, she was in intensive care until Wednesday evening then home on Friday! On Saturday it was as if nothing had happened and now she had the use of both lungs her energy levels were much higher (she hasn't stopped moving since) and she started eating proper meals instead 'grazing' through the day she cried more loudly too!.

Once a year she goes back to have tiny balloon insert via a catheter to wider the artery which isn't growing at the same rate. Maybe when is she is much older they will fit a stent to keep the artery open
NaomiDuring the first year she lacked expression but now is able to laugh, smile (and tantrum!) normally. I had done baby signing with my son so naturally started signing with Naomi and I'm glad because speech did not come, just strange sounds. Because of her feeding difficulties we had visits from the Speech & Language Therapist who realised Naomi had speech problems and I quickly extended my signing vocabulary (thanks to Justin on Something Special).

The feeding problems subsided over time in the end I breastfed for 11 months although it took her 4 months to figure it out! I was too stubborn to give up. When I needed to use a bottle, I used a Haberman feeding bottle which worked much better than a normal bottle, later she progressed to a Doidy cup. However, she still, at the age of 3,has to use a cup with a sports top because she regularly spills drinks as she can often be a bit clumsy.

Recently, she has been diagnosed with a sub-mucous cleft palate which they hope to operate on once she is 4 years old. Currently, she is unable to say her consonants but tries really hard to talk and we now are able to understand some phrases without signs. She has a vocabularly of 90+ signs and loves Something Special, particularly the episodes where they are out & about at the Theme Park with Nell, who also has DiGeorge.

Our other major challenge was her lack of sleep. We have a good bedtime routine but several nights a week, she would wake up about midnight and be crying, impossible to comfort and just buzzing until about 5.00am. I eventually figured out that it must be connected to her food. We were referred to a Dietician and after keeping a detailed food diary we found out that she reacts to artificial colour/flavourings/preservatives and Salycilates which are naturally occuring in most fruits, many vegetables, nuts, seeds, herbs, spices and chocolate. Her biggest trigger was tomatoes essentially 80% of her healthy diet was sending her over the edge!! Once we eliminated these foods she changed and, at the age of two, we finally had some normality in her sleep, behaviour and general family life - and a more boring diet!. Although she is still full of energy she is able to sit down and concentrate much better, is less manic, very cuddly and affectionate. I now get to have a good night's sleep and so feel human again.

Toilet training has proved to be non-existent. After 5 weeks I contacted the chat room at MaxAppeal to discover that she probably won't succeed until she is nearer 4 or 5 so we now have her pull ups and still encourage toilet visits as often a possible. Sometimes she tells us she has performed and ask to be changed which is progress.

Naomi is now 3 years old and recently started mainstream pre-school, two days and two mornings a week. She loves it as she is able to be constantly stimulated. One of the members of staff has learned Makaton but Naomi is very good at making herself understood through sounds, body language and signing her understanding is very good too.

She also loves attending a local kindergarten music school, specialising in the Kodaly approach, and enjoys 'playing' her electronic keyboard.

Her social skills are very good, managing to charm everyone with her mischievous, cheeky looks. She's fearless and determined so manages to get into all sorts of scrapes I'm sure we will see much of A&E when she figures out how to climb trees!! In the meantime, she's quite the escape artist and, despite our best efforts, has succeeded on several occasions to find her way into neighbour's gardens and once we found her on her way to the park because she wanted to go on the swings! At pre-school she makes a dash for the door when it starts raining and sits in the puddles and at home loves digging in the garden and getting very muddy.

Our main concern now is her schooling. Her birthday is late August so she is due to start school two weeks after she is 4. We want to keep her in pre-school until she is 5 and for her to start in Reception which doesn't normally happen. The Educational Psychologist has recently visited Naomi at pre-school to start her assessment of how to move forward and along with the medical experts such as the Geneticist and Speech & Language has agreed to support us.

We feel very lucky that Naomi is at the milder end of the spectrum for her condition and so far she is able to lead a normal life. On the bright side, we note that golf is a recommended sport being a golfing family we'll be delighted if she takes up the game who knows maybe we'll see her on tour one day!