Despite suffering from a rare condition that went undiagnosed for eight of her 10 years, a young Isle brownie has a list of achievements under her belt.
Her brownie group, the 1st Belton Brownies, recently donated their subs of £50 from one meeting to the Smith-Magenis Syndrome Foundation UK, to help towards research in to this rare genetic condition and to support their pack member who has the syndrome, Elizabeth Dudley.
There are only 700 known cases of Smith-Magenis across the world. It is a genetic disability due to a microdeletion or abnormality of chromosome 17. Its features include some learning disability, delayed speech and language skills, sleep disturbances, and behavioural problems.
November 17 is a Smith-Magenis Awareness Day, and linking in with that, Elizabeth’s mother Christine is keen to help educate and inform people about it, so that they might support the charity that funds research in to its cause, and help those who suffer from it.
Mrs Dudley explained that it was eight years before Elizabeth was diagnosed with the condition, but now that they do have a diagnosis and so a better understanding, it has made a big difference. It has allowed them to have their daughter statemented and to receive vital one to one help at school.
She continued: “Elizabeth achieved her 100m swimming certificate recently, and she’s a keen member of brownies and evening clubs including Cheeky Chimps at Scunthorpe, a church youth club, street dance and ten-pin bowling. She has a great deal of energy which means she doesn’t sleep a great deal and as she’s getting bigger it’s harder to direct her energy.”
Smith-Magenis is also dubbed the ‘hugs and kisses syndrome’ as its sufferers are very affectionate physically but can be less inhibited than most other people.
“It’s a round-the-clock job keeping an eye on her,” said Mrs Dudley. “She doesn’t have the same restraint as other children and it is becoming more of a worry.
“Hopefully one day the scientists will be able to do something about the missing gene that is linked to the condition, as research moves forward and more becomes known.”