Callum is a happy, sociable 11-year-old boy with a loving and gentle nature. He has a fantastic sense of humour and never fails to put a smile on the face of anyone he meets. He is enthusiastic about everything her undertakes and relishes his successes. Callum is the youngest of our two children and has a wonderful big ‘Sis’, Ellie, (13 years).

Callum remains, however, highly dependent upon adult intervention, with his greatest needs being self help (dressing and personal care), stability and danger awareness. His behaviour can be challenging at times and is often presented by frustration outbursts. This may be because he is unable to express a feeling, is anxious about something, or if a routine is changed without prior warning.

We have deliberated over how to tell his ‘case history’ as it has been troublesome. But, many characteristics of his difficulties have been unique (or in our terms, just ‘bloody bad luck!”)

We hope that by sharing our experiences, we can offer support to others and raise awareness of ‘potentials’ associated with caring for a child with MWS.

DIAGNOSIS:

• Mowat Wilson Syndrome
• Severe learning difficulties with obsessive behaviours
• Epilepsy
• Hirschprung Disease
• Colostomy, following surgical complications
• Heart conditions – pulmonary stenosis (narrowing) and Bicuspid Aortic Valve (two flaps instead of 3)
• Hearing impairment – total loss of hearing in his left ear and reduced hearing in the right ear
• Hypospadias
• Previous episodes of pancreatitis related to Sodium Valproate

LIKES - shouting, laughing, squeezing his fingers when excited, flicking and clicking things, sirens, dogs, crisps, coke, mayonnaise and sauces.

ABSOLUTELY OBSESSED WITH – Jeremy Clarkson and ‘Top Gear’, Grand Prix, Trains, 999 vehicles, buses, planes, etc. Video’s and DVD’s (he will stop, rewind, and play favourite bits over and over again!), and the computer.

DISLIKES – brushing teeth/hair, washing, having feet touched, scary monsters and things that make him jump.

Callum was born in May, 1995 at Bridgend Hospital , South Wales . He was in no rush to greet the world, arriving 2 weeks late, as a whopping 9lb burly bruiser!

Initially, no ‘major’ concerns were flagged up, other than a diagnosis of Hypospadias (two holes under his willy – affectionately called by family as his double barrel shot gun!), and single palmer creases on both hands (often found in children with Downs Syndrome). His ear lobes were very curled and his head was an odd shape, but we laughed it off at the time and nick-named him “Ugly Bug!” To us, he was gorgeous anyway!!

24 hours on, Callum had been reluctant to feed, never passed meconium and his stomach became distended. At this point he was admitted for close observation to the special care baby unit. By day 3, his condition deteriorated and he was transferred to Cardiff University Hospital of Wales Intensive Care Unit. Over the next few days he was closely monitored and a trip to theatre for bowel biopsies, under general anaesthetic, confirmed that he had Hirchsprung Disease (lack of nerve endings in a segment of bowel). On day 7, a second trip to theatre was made. A colostomy operation was performed and a stoma created. A few weeks of special care in hospital followed, introducing Callum to milk and Mum and Dad to colostomy bags… and lots of poo!!

Callum came home after 4 weeks in hospital and cruised his first year fairly trouble free (other than recurring chest infections and terrible temper tantrums when he was not receiving one-to-one attention from anyone and everyone!)

The day before his first birthday, Callum was admitted to hospital for his ‘pull-through’ operation and closure of his colostomy. Sadly, and unluckily, this op was unsuccessful and after 9 days, his bowel perforated (this is not typical, - Callum, unfortunately, developed a cyst which burst and blew a hole in the bowel). He spent a very wobbly 6 weeks on a life support machine, in the Intensive Care Unit, dealing with septicaemia and peritonitis and was ‘refitted’ with an ileostomy. After 2 months recovery in hospital, Callum came home.

Over the next two years we spent a great deal of time in hospital with Callum, in terrible pain with stomach cramps, rectal bleeding and constant dehydration problems. After months of trialing different medication techniques, nothing seemed to control the problems he was experiencing. Eventually Callum was referred to Bristol Childrens Hospital, and then on to Great Ormond Street Hospital, where an exploratory examination proved that he had many adhesions and leaks in the bowel, following complications from his perforation 18 months earlier. A five-hour operation was performed in London where Callum’s bowel was completely ‘re-plumbed’. This transformed our little man and the way that he was feeling and he was able to begin to enjoy and explore his world around him.

At the age of 3½ years we were unsure how much of Callum’s developmental delay was due to so much hospitalisation, or the fact that he had significant learning difficulties. He had not sat independently until the age of 1½ years. He had worn AFO hinged splints on his legs to correct his inturned feet and weak muscle tone and was only just beginning to walk with the aid of a mini ‘zimmer’ frame. He had no speech at all and was only able to communicate through gestures. Independent walking was achieved just before he was 4 (and boy, did we shed some tears of joy over that!!).

Between the age of 3-4, Callum received home visits from a Portage Worker who suggested that we try using Makaton Sign Language with him. This proved a significant ‘breakthrough’ for Callum’s communication and helped calm some of his frustration tantrums! Through sheer perseverance over the years, he is now a fantastic signer – claiming an impressive word bank of about 150 signs. We always talk with every sign and he tries too. We may not always understand his spoken words, but when supported by signing, he can make himself understood most of the time. Nevertheless, Callum appears to understand everything spoken to him even without signing.

Callum began to experience febrile convulsions (temperature related) from the age of 2 and at the age of 5 he was diagnosed with Myoclonic Epilepsy. The seizures have become less frequent, now that he is older, and the epilepsy is mostly under control with his current medication (Topiramate).

Glue ear has been an on-going problem over the years. Callum has had 3 sets of grommets and a life-time of perforated ear drums! One particularly nasty oozing infection, lasted, intermittently, for about 18 months. Callum, with his typically tolerant and placid coping mechanisms, put up with this infection with very little fuss. Having had the infection cleaned out under general anaesthetic three times, it still remained. Unfortunately, this resulted in Callum’s inner ear bones becoming so rotten with infection that they were eventually removed. Sadly, this now means that Callum has lost the hearing in his left ear. He now wears an aid in the other ear to boost that side – something he treats somewhat as a toy, as he loves to make it ‘whistle’!

Callum attended our local mainstream Primary School with one-to-one support, until the age of 10. In January, 2006, he transferred to Mayfield School , Torquay, (for children with profound learning difficulties). His transition went without a hitch and he is now settled and extremely happy in his new and ‘stimulating’ school. He has delighted in being part of their happy, friendly environment and surrounds himself with many friends. His wicked sense of humour has, at times, got him into trouble at school for playing the class clown and distracting others. He has just experienced his first 3-day residential trip away from his family with his classmates on Dartmoor .

For 8 years, Callum carried a label of ‘undiagnosed Dysmorphic Syndrome with complex medical complications’. Finally, in 2003, our Geneticist sent Callum’s blood samples to Paris and a diagnosis of Mowat Wilson Syndrome was confirmed.

As a family, we strive to lead as much of a ‘normal life’ as possible and include Callum in everything we do. We encourage him to lead a full and active life and always ensure that he succeeds, in some way, at everything he tries. We relish his every achievement and celebrate every goal he meets. Having Callum has taught us a lot in life. We try not to dwell on the past, or the future, but just live life for today!

He is loved, and knows how to love, and the rewards we receive from him, far out-weigh any negatives.

Hayley and Ian Noon (Callum’s parents).