Living with SMS can present a variety of challenges for families. During infancy quite often there are feeding problems, failure to thrive, weak muscle tone, prolonged napping and lethargy.
Then later in childhood and adulthood, there can be the development of disturbed sleep patterns (regular waking throughout the night and sleepiness in the day), as well as behavioural problems including: frequent temper tantrums, impulsivity, anxiety, distractibility, aggression and self-injurious behaviours including self-hitting, self-biting, and skin picking.
When Katherine Barnwell, 39, gave birth to her second daughter, Mia, it was clear almost from the outset that there were problems. ‘From the age of give weeks, she was in hospital for two months with bronchiolitis – inflammation of the lungs’ small airways – and reflux,’ says Katherine, an intensive care nurse from West Bridgford in Nottinghamshire. ‘She kept going grey and floppy and her heart rate would drop – it was as though she was trying to die all the time. We’d have to rub her or get help to keep her going.’ Katherine and her husband, Giles, took it in turns to stay by their baby’s bedside, a harrowing time for the couple, who also had to juggle care of their two-year-old daughter, Lily, now nine.
A geneticist carried out tests on Mia, telling her parents they’d be in touch if there were any problems. But by the time Mia was ready to leave hospital, they’d heard nothing. ‘So we assumed the tests had been fine,’ says Katherine. Mia still had some bowel problems so Katherine and Giles took her back to the hospital for a planned appointment with the gastroenterologist when she was four months – and it was then they were given the shocking news. ‘The gastroenterologist mentioned the blood tests and said one had come back positive for a genetic disorder. It wasn’t at all what we were expecting to hear. He showed us the home page for Smith-Magenis Syndrome. I saw pictures of children looking very different, all with a certain “look”. The consultant couldn’t tell us anymore – he just said we’d have to go home and google the condition. We were shell-shocked and felt completely on our own.’
The couple looked at the Smith-Magenis Foundation website and learned there are only 700 cases in the world, and about 100 in the UK. ‘Giles got in touch with one of the governors, who rang him, and they had a long call the same day of the diagnosis,’ says Katherine. ‘But I didn’t want to hear too much at that point as the governor had an older child and I didn’t want to know about the future. I needed to come to terms with what we were dealing with then and there.’
For some time, Katherine tried to plough on as normal with family life. ‘I didn’t want us as a family to be defined by Mia’s condition,’ she says.
But more recently I’ve started to realise we are isolated and need some support. We get judged when we’re out because of Mia’s behaviour. People think she’s very naughty and admittedly her behaviour can be quite severe. But we know it will fuel the fire if we try to control her. So we know we’re handling it the best way.
Recently, the couple have met other families affected by Smith-Magenis Syndrome through the Smith-Magenis Syndrome Foundation. ‘We were ready to meet others fighting similar battles, those who understand how hard it can be, and not to be judged. All the kids were so different with a variety of different needs, both physical and mental. We look forward to attending our first conference next year where we hope to learn even more about the condition.’
Mia has traits of autism and attention deficit hyperactivity disorder (ADHD) –so her behaviour is all that merged into one, Katherine explains. ‘She can be a little poppet but can then have a huge meltdown over almost nothing, such as me sneezing. We’re not sure of all her triggers yet but it can be like walking on eggshells. Mia is in mainstream school with one-to-one support but at the moment we’re having a battle getting her to school – she won’t get dressed and shouts and screams. I have to get her into the car any way I can.’
Night-time is also difficult. ‘Mia’s melatonin spikes at midday so she’s sleepy then and at night, we have to put her to bed in a locked tent or she’d go wandering. Taking some extra melatonin when she wakes up helps her go back to sleep.’ Mia is strong and can be violent, especially to Lily. ‘That’s really hard,’ says Katherine. ‘For about a year, Lily wasn’t eating properly and was having tummy-aches. Doctors didn’t find anything physically wrong – it was anxiety due to the environment she lives in with Mia. She helps look after Mia and loves her sister but I know it’s tough on her. Giles has taught her some stress-relieving techniques to cope.’
The situation has been a strain on Katherine and Giles’ marriage – but, says Katherine, they make a good team. ‘We love each other and have learned to cope together.’ They both go to the gym and run regularly. ‘Exercising gives us some release. We’re doing our first Tough Mudder event soon and are raising money for the Smith-Magenis Syndrome Foundation. It’s also good for me to build my strength. Already, Mia is very strong and when she’s kicking and flailing it can be hard for me to handle her. That’s going to become more difficult as she gets older.’ Katherine gets some respite when Mia’s at school, and says her work as an intensive care nurse gives her a break. ‘That might sound really odd but when I’m at the hospital I’m totally focused on my patients and don’t think about anything else.’ The family have just been given some money for a buddy for Mia, so once a month they get six hours away from her, when she goes to a friend who looks after her. ‘The three of us have a family day and it’s so helpful to have that to look forward to. Recently, we took Lily to the circus. We felt so guilty but knew we couldn’t take Mia because of her behaviour.’
At other times, though, Mia is a happy, loving little girl who adores her sister and parents. ‘She gives the best hugs and tells you she loves you,’ says Katherine. ‘She can be so cheerful, loves doing new things, being tickled, dancing, parties and music. Mamma Mia is currently her favourite song in the world so we have Abba on all the time. She loves CBeebies Land at Alton Towers and going to new places. Christmas is her favourite time of year! Mia looks like an angel, too. She loves playing with her sister and walking her baby doll to the shop in her pram – so there are lots of positives.’
Case study courtesy of Genetic Disorders UK.