Quesnel resident Rita McKee is currently waiting on results from the Vancouver Children’s hospital on her oldest child. Her eldest son has ADHD and mild retardation, but McKee is having the tests done to find out if her son is actually affected by Fragile X.
According to the National Fragile X Foundation, Fragile X is a family of genetic conditions that effects individuals across generations and can range from learning disabilities to memory problems to infertility.
These cognition impairments are all caused by gene changes in the FMR1 gene. There are three disorders in the family: fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI).
FXS is the most common cause of inherited intellectual disabilities, causing behavioural disorders, speech and language delays and is seen early in childhood. FXTAS is adult onset, and is a neurological disorder that causes tremors, balance and memory problems and cognitive decline in males. And finally, FXPOI is a condition that manifests in women, causing irregular menstrual cycles, infertility and premature menopause in young mothers.
If one family member is affected by Fragile X, it is possible for other members to also carry the gene damages. It can also be passed on in a family by individuals who have no apparent signs of this genetic condition.
McKee said the testing came at the suggestion of the hospital. She also said there’s a lot of misdiagnoses of autism and ADHD in individuals when Fragile X is the actual problem.
“We need to raise awareness,” she said.
“We just need to get it out there that kids like that need help.”
A major problem with this misdiagnosis is that the public doesn’t know the proper way to interact with the affected individual.
Because of the individuality of the disease, each person is affected in a different way and needs to be treated accordingly.
“You have to study your child to know the type he has,” McKee said.
She added misunderstandings can cause major problems.
“It’s shocking because if the kids get in a mood and you want to hug them but they can’t be hugged – it tells them that if it’s okay for you to hug them then it’s okay for them to touch someone else.”
Speak to your doctor about Fragile X to set up an appointment through the children’s hospital if you are concerned that your loved ones might have the disorder.