A Wiltshire family with a child with a rare genetic disorder have been chosen as the face for the online campaign #dreamforgenes.
The campaign is to encourage schools to sign up for Jeans for Genes Day – when children and adults wear jeans for the day in exchange for a small donation to the charity.
Mum-of-three, Leeann, and her eldest child Lily, who has Smith-Magenis syndrome (SMS), recorded a short video to raise awareness around SMS and genetic disorders.
Leeann said: “There definitely needs to be a lot more inclusion and acceptance around children with genetic disorders. And it’s crucial that starts at school.”
The freelance website designer, continued: “It’s really important for me to shed light on Lily’s condition. It’s such a rare condition – there are fewer than a 1,000 diagnoses globally.”
“Also it’s important for me to raise awareness of genetic disorders generally – to help the wider cause.
“It feels as if the world is very familiar with autism but there is still a lot of catching up around genetic disorders.”
Leeann, who is married to Will, 44, also has two sons, William, six years old, and Teddy, three years old.
She explained: “It is so important to understand how living with genetic disorders affects whole families.”
Smith-Magenis syndrome is characterised by mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, heart and kidney problems, substantial sleep disturbances, and behavioural problems including self injury.
Children with Smith-Magenis syndrome are often awake in the middle of the night and want to sleep in the middle of the day.
The impact of regular sleep deprivation day in, day out for many in itself proves completely debilitating.
Leeann explains: “We have had our sleep affected for 10 years – the impact this has had on us as a family is immense.
“For the boys it is hard. They very rarely get woken up in the night – the problem starts the next day when Lily has had a bad night she will be more challenging so there is a knock on effect. Lily gets the lion share of attention and as much as I try to give them all time – it can be impossible.
“I worry about Lily – her long term health – how the sleep disturbance will affect her.
“We know how it affects us over the long term, I’ve definitely experienced increased stress, anxiety, chronic fatigue – I am always tired – and have experienced depression at times.”
Thankfully Leeann has learned how to take care of herself, and in turn her family, under such demanding circumstances.
“I am a very pro-active person and I’ve made sure that I eat healthily and live healthily,” she explains.
“For us connecting with other families living with the same condition helps us massively – being part of a community that understands definitely makes a difference.”
Lily was diagnosed at three years and 5 months.
Leeann explains: “She’d had delayed speech and delayed walking but I wasn’t prepared for the diagnosis. From two years old the gap just kept widening.”
In the #dreamforgenes campaign which asks parents with children affected by genetic disorders their dreams for their children, Leeann explains hers: “That we should all be able to have a good night’s sleep so that we can all dream again.”
To register for Jeans for Genes Day on Friday September 22nd, go to jeansforgenesday.org
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