Living with a rare chromosome disorder

The first Rare Chromosome Disorder Awareness Week has launched this week (2-8 June) to help combat the isolation and alienation many families experience living with a rare diagnosis. 

Marion and Robert
Marion Mitchell a family support officer for the rare chromosome disorder charity Unique, with her son Robert

Robert is 20 and has a rare chromosome disorder called idic 15. He has learning difficulties, epilepsy, scoliosis and he is non-verbal. His mum, Marion Mitchell is a family support officer for the rare chromosome disorder charity Unique, which offers support to over 10,500 families in 95 countries.

“Robert was diagnosed when he was a year old,” says Marion. “I joined Unique in the early days and I continue to be amazed at how the group has grown in numbers. “

An estimated 30 per cent of all children diagnosed with significant developmental delay in the UK have a rare chromosome disorder, according to Unique. Rare Chromosome disorders affect at least 1 in every 200 people, making the incidence higher than Down’s Syndrome and Cerebral Palsy combined.  Yet rare chromosome disorders remain relatively unknown.

Rapidly improving genetic testing techniques means that children, who would previously have been labelled with developmental delay, autism or other learning disabilities now have a formal diagnosis. However, as Marion explains: “So little is known or understood about rare chromosome disorders that many families come to Unique distressed, struggling to come to terms with their child’s diagnosis, often feeling isolated and confused.”

Which is why Unique has launched the first Rare Chromosome Disorder Awareness Week 2–8 June to help increase understanding of the challenges of living with a rare disorder. This week Unique families will be telling their communities, doctors, teachers and MPs all about the difficulties they face. They will also be encouraging professionals and parents to get a diagnosis as early as possible, so support is available early on.

Sophie Sainty, Chair of Trustees at Unique, and herself a mother of 12 year old Max who has a rare chromosome disorder, says: “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.”

To find out more about living with a rare chromosome disorder take a look at the video below. Or to get involved in the first Rare Chromosome Awareness Week visit Unique’s website.