Supporting a rare disorder foundation
A Wigan mother is urging borough residents to help raise awareness of an incredibly rare condition her son suffers with.
Jo Martland’s son Louie was just eight-years-old when he was diagnosed with Smith Magenis Syndrome (SMS), a genetic condition affecting one in 25,000 people.
Jo and her husband Ian first noticed all was not well with their 11-year-old son after years of intervention from paediatricians and other support agencies, failed to curb Louie’s irregular sleep patterns, self-injuring behaviour, mental breakdowns and learning difficulties.
After several medical professionals were at a loss, the Martland family received the shock of their lives when little Louie was diagnosed with the life-altering condition in October 2014.
But Jo spoke of her relief at finally understanding what was wrong with her boy.
She said: “Researching all the information was very scary and overwhelming, and although there is a spectrum of symptoms, we could now tick the boxes and start to try to understand it all.”
The Shevington mum added: “Life is very unpredictable. It’s extremely stressful at times and it’s like living with Jekyll & Hyde, but the good side of SMS is an endearing personality, loving nature, good sense of humour and the frequent hugs that can make all the bad days melt away.”
Jo has now turned her attention to championing the cause of the Smith Magenis UK Foundation, which she says provided “a lifeline” and support for the family in what she described as “a very isolating situation to live with.”
She added: “The condition is difficult to explain and sometimes difficult to manage, so certain activities are best avoided so as not to exacerbate Louie’s sensory issues.”
The SMS UK Foundation provides advice & guidance, up-to-date medical information, and informal get togethers for families to share their experience.
Jo and Ian have become active members of the Foundation, raising much needed funds into research to help Louie and all the other children and adults with the condition. And now they want Wiganers to get involved through National Jeans for Genes Day, which the foundation benefits from greatly.
This year it will take place on September 22, and the family is urging schools, nurseries and workplaces to get involved by simply wearing jeans for the day and making a small donation to help support the 500,000 children in the UK that have a life-altering genetic disorder such as SMS.
For more information, visit smith-magenis.co.uk