Mum calling for more understanding of son’s rare genetic condition
THE mother of a little boy from with an extremely rare genetic disorder is calling for greater understanding of the daily struggles children and families like hers face.
Amy Walker was so desperate to help her son Dante, she resorted to home-schooling him for a whole year while fighting to get him the support he needs.
Dante’s condition is so rare it doesn’t have a syndrome name, it’s just called a ‘7q11.23’ duplication – meaning part of his 7th chromosome has been duplicated.
Amy, from Aberdare, said: “Dante started having fits at age two and noone knew what was going on.
“It was his epilepsy doctor who noticed that there was more going on, noticing his facial features among things although he hadn’t had any diagnosis at the time apart from epilepsy.”
From there, Dante was referred to a genetics specialist, and it was years before he was finally diagnosed. Amy added: “It’s been a struggle for Dante to fit in, he has no friends and struggles with school.
“He can’t verbalise his feelings or needs and becomes very frustrated, with regular meltdowns and it’s especially hard being a single parent.”
Despite Dante’s challenges, Amy says that he is funny and cheeky and she would not change him for the world.
“Looking after someone with such a rare condition is demanding and tiring but very rewarding as well.”
Conditions like Dante’s are so rare that doctors and other professionals often have little knowledge or understanding about them and aren’t able to provide many answers to the questions Amy and families like hers have. This often happens and leaves parents feeling lost, confused and very isolated. Like many others, she
left feeling extremely is worried about the future. Despite a worldwide database of thousands, even the rare chromosome disorder support group Unique know of just 60 families with children who have a similar condition to Dante’s, but help parents by providing specialist information and by putting the family in touch with those in the same boat, especially local families.
Amy said: “Unique helped us begin to understand Jack’s condition and what it means.
“The thing about rare chromosome disorders is that they are so rare that no one can really tell you what life will be like and that can be really difficult.
“Unique offers you support and information which really helps.”
To raise awareness of the daily challenges of having a child with a rare chromosome disorder, Amy is supporting the charity Unique and their Rare Chromosome Disorder Awareness Week which runs from June 1117.