Child Of The Month

Robert
by Marion and Steve Mitchell
West Sussex , England

Rob’s diagnosis is Inverted Duplication of Chromosome 15, now known as Isodicentric 15 or Idic15. He is not your regular idic15 though; He has a 48 chromosome karyotype, which results in two identical markers, (two additional pairs resulting in six copies). He was born with a hole in his heart, which healed by 6 months of age, and dislocated hips which he has to have checked biannually. He is not able to speak and for communication he uses objects of reference and some PECS (although he is not brilliant at this). Rob has very poor fine motor skills.

When he was young he had some strange episodes of staring into space, and went into hospital for investigation but this was shown to be inconclusive. However, 3 days after his ninth birthday he developed absences and he now requires medication. An MRI when he was 6 years old showed that at some point (probably in-utero) he had a brain haemorrhage. He also has Eczema, which at times has been very severe; when it is really bad he has to have bandages and creams applied to his skin. His doctor gave him a prescription for Evening Primrose oil capsules when he was about 5 or 6 years, which he still has every day in his cereal milk. They have helped a lot. He has been admitted to hospital with pneumonia three times. He also spent time in hospital when he caught chicken pox and it made him very ill; it was because the chicken pox had infected his eczema.

Rob is now 10 and a half years old and goes to a special school. He likes school and loves Swimming and Horse Riding. For years he wasn't able to go swimming because when he was really small he kept getting lots of ear infections and also had a perforated eardrum. Getting water in his ears was very painful, but they are much better now. He doesn’t sleep all night; he likes to have a reassuring cuddle in the night.

He likes his food and drink. He loves being outside and going for walks, I have to take his wheelchair because he doesn’t always want to walk far and because of the seizures I need to be able to transport him. He isn’t a great TV watcher but he recognises the music to certain programmes and likes to watch Teletubbies and Thomas the tank engine and sometimes motor racing or football (mainly for the noise).

Robert was born by elective caesarean in April 1994, two weeks prematurely because he was in breech presentation. He weighed 61b 13oz. He was born with a small hole at the base of his spine and was taken straight to x-ray. They could see to the bottom of the hole and therefore called it a dimple and said it was nothing to worry about. Three days after Robert was born, doctors were examining him and noticed that he had a heart murmur, so when he was six days old we were taken to Royal Brompton Hospital in London where he had all the chambers of his heart examined. It was then that they discovered a small VSD. The specialist thought this was just down to immaturity and after 6 months the hole had closed. We left that hospital and on returning to our local hospital were discharged with what we then thought was a perfectly “normal” little baby.

Robert slept a lot and most of the time I had to wake him up to feed him. He was however a very colicky baby for about four months. On attending his eight-month check at the local health clinic he wasn’t able to do any of the tasks set before him and I was asked to bring him back one month later to see if there was any change. There wasn’t. After seeing our family GP we were referred to a paediatrician at our local hospital where Rob spent a few hours undergoing tests. It was some months before we got the results back. When Rob was aged 12.5 months we were given the news that he had this very rare chromosome disorder, it was written as Inverse Duplication of Chromosome 15. His disorder was even more rare because he didn’t just have the extra pair as seen in most idic 15 children, but two identical markers, giving him a 48 chromosome karyotype.

At the time of diagnosis Rob could only lay on the floor. He wasn’t able to roll over/ sit/ stand or crawl. We were referred to all sorts of different professionals: Physiotherapist, Occupational therapist, Speech therapist. Suddenly our lives became an endless round of appointments. It was like being on a roller coaster ride that just kept going round and round. By the time Robert was 18 months old, the help that we had been given by these professionals was starting to improve Robert’s life. He started to crawl. He spent a long time trying to pull himself up the furniture and eventually succeeded. He started to walk at the age of three although he couldn’t understand how to get back up from the floor to the standing position and this took him about another 4/6 months to work out. Now aged 10, he doesn’t walk brilliantly well, he has an abnormal gait where his feet turn inwards and he also has subluxating hips (they dislocate). He also has severe dorsi-flexion (he can bend all his joints backwards), and hypotonia. He can be wobbly and falls over a lot; we used to spend a lot of time at the local A&E dept. with head injuries when he was younger because of this. His understanding of inclines and declines, or kerbs or different surfaces (although he is getting better with the kerbs) is difficult at times and he doesn’t really know the difference between the road and the pavement. He has severe learning difficulties and absolutely no fear!

It can be very difficult to take him out, and it is virtually impossible to use public transport because I can’t get his wheelchair on board a bus and certainly not on my own. And although he doesn’t talk, he is very noisy, which means we get stared at a lot. I haven’t as yet tried a train, but I suspect we would have to travel in the guards van in his wheelchair on some trains – and I don’t want that. As he gets older and more strong-willed his behaviour has changed slightly. It can be very difficult to understand his needs and the worst thing about that is not knowing when he is in pain. Except that he screams very loudly! On the whole though, he rarely cries and is very content most of the time.

Rob cannot do a lot for himself such as washing and dressing, although he will push his arms into his sleeves when given a bit of prompting. Feeding himself has improved slightly; he will use a spoon sometimes but he needs constant supervision as he likes eating with his hands regardless of what is on the menu, and on occasions he has eaten cat food, coins, sweets with their wrappers on, used teabags, soap, and snails in the garden!!! He is doubly incontinent and he dribbles constantly so occasionally I have to change his clothes more than once a day. He attends a school for children with severe learning difficulties - the staff there have been very good with him and he is slowly learning basic social skills. Before he went to school full-time he used to have Portage - which is a home learning programme for children under 5 with special needs. This was very beneficial to us and I cannot recommend it highly enough. He also used to attend the child development centre where he took part in an occupational therapy class for a very small group of children, which was also beneficial.

Rob is a climber, climbs on anything and everything, he bangs on the windows, switches lights on and off constantly, opens and shuts doors, tries to escape out of doors and windows. He loves water, and bath-time is a favourite, but you have to watch him constantly around any sort of water, he is constantly turning on taps and letting the water run. Taking him to the beach is a nightmare because he just wants to go into the water all of the time, or if he sits on the beach he has been known to put pebbles in his mouth (or anything else he sees that takes his fancy). He loves having a bath but I can no longer put bath preparations in the water because he drinks big mouthfuls of the water.

Despite the challenge of having a little boy with idic 15, I have to say he is a lovely loving boy who likes a cuddle and a kiss, and I am so glad he is mine, I wouldn’t be without him. He is a very special little boy.

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