Adam Bancroft, age 10, with his mum Georgina from Swansea. Adam has a rare chromosome disorder called Idic 15.
Unique, the rare chromosome disorder charity, announced today that the rate of diagnosis of children with rare chromosome disorders has seen a sharp increase, with an estimate of around 30% of all children diagnosed with significant developmental delay in the UK having a rare chromosome disorder.
As the first Rare Chromosome Disorder Awareness Week launches today 2 June 2014, Unique advise that rapidly improving genetic testing techniques are seeing many
children, previously labelled with developmental delay, autism or other learning difficulties, now having a formal diagnosis.
Rare Chromosome Disorders remain relatively unknown, while chromosome disorders such as Downs Syndrome are more recognised and understood. Yet Rare Chromosome Disorders affect at least 1 in every 200 people, making the incidence higher than Down’s Syndrome and Cerebral Palsy combined. By raising awareness, Unique hopes to help families beat the isolation and alienation of having a rare disorder that few others understand.
Chromosome disorders can cause physical and learning disabilities and complex medical issues, including heart defects, epilepsy, autism or other types of challenging behaviour. Some people are profoundly disabled while others appear outwardly normal but have problems with infertility or recurrent miscarriages, learning impairments or behavioural issues.
Many families come to Unique distressed, struggling to come to terms with their child’s diagnosis, often feeling isolated and confused. Membership is free, and offers families a helpline they can call at any time from that traumatic first moment of diagnosis and throughout their lives; by linking up families with others affected by similar disorders, and providing families and medical professionals with guides written by experts explaining their child’s condition.
During the Awareness Week, Unique families will be telling their communities, doctors, teachers and MPs all about the challenges they face living with a little known diagnosis, in accessing services from education to health, and in planning for their family’s future, often with complex medical problems and/or disabilities. Fundraising events will take place such as cake sales and fun days.
Sophie Sainty, Chair of Trustees at Unique and mum of 12 year old Max who has a rare chromosome disorder, commented, “The shock of having a child diagnosed with any disability or disease is devastating. But having a child diagnosed with a rare chromosome disorder, often with no name to it, makes it even more difficult. Doctors don’t know how the children will be affected; families, neighbours and the public don’t understand it. We are left feeling very, very isolated. We hope Rare Chromosome Disorder Awareness Week will help to spread the word and reach new families who need support.”