Mum speaks of son's genetic disorder for charity day
A Wigan mum has spoken movingly of the daily struggles of coping with a child who has a genetic disorder.
Joanne Martland was speaking in support of the national Jeans for Genes charity day which takes place next month.
Every year an annual fundraising campaign is held for Genetic Disorders UK, the national charity that supports individuals and families affected by a genetic disorder.
Monies raised on Jeans for Genes Day, fund the work of the charity and provide grants to organisations for projects that aim to transform the lives of children with genetic disorders.
This year the campaign is also being supported by a range of household name celebrities including: Rachel Riley, Mollie King, Warwick Davis, Vogue Williams, Lydia Bright and Ashley James.
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Joanne’s 10-year-old son Louie is forced to wear a back brace for 20 hours a day after being diagnosed with the genetic disorder Smith-Magenis Syndrome (SMS) at the age of eight.
The main features include intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioural problems, and it occurs in one in 25,000 births.
Louie’s diagnosis, in October 2014, came after years of intervention from medical professionals about the youngster’s development and behavioural problems.
Once the family had a diagnosis, Louie went through investigations to see if he had any cardiac or renal conditions, which can sometimes be associated with SMS. He didn’t, but he was diagnosed with scoliosis (curvature of the spine).
Louie now wears a back brace for most of the day, taking it off for four hours after school and then puts it back on before he goes to bed. The brace is to stop the curvature progressing and it is working successfully. Louie still takes melatonin to help him sleep because he naturally wakes at around midnight every night.
Joanne said: “Louie’s biggest symptom of SMS is his impulsiveness.
“He will bite, pull, punch, and no-one can advise us on what to do.
“We have asked for anti-anxiety medication for him to help with his violent outbursts, but we are pushed from pillar to post between the paediatrician and the Child and Adolescent Mental Health Service (CAMHS).
“Louie has learning disabilities; his speech is good, but his understanding is not. He has meltdowns, he hugs people, skin picks and he has even pulled his own fingernails off.”
Half a million children in the UK are affected by a life-altering genetic disorder. Support their cause by joining in Jeans for Genes Day on September 22. For more information visit www.jeansforgenes.org