A project offering support and information to families of children with undiagnosed genetic conditions has launched the UK's first National Undiagnosed Children’s Awareness Day to raise awareness of rare conditions which affect those in contact with Genetics Centres.
SWAN UK (Syndrome Without A Name) estimate that 30-50% of children with severe learning disabilities and 50% of children in contact with NHS Regional Genetics Centres may never get a diagnosis to explain the cause of their difficulties.
Lauren Roberts, SWAN UK Coordinator, said: “Since the SWAN UK project started just under 2 years ago we have been amazed at how quickly our community of
families has grown.
"Parenting a child with an undiagnosed genetic condition is tough. Many families are extremely isolated and their life is often made harder by the general lack of understanding that it is even possible for disabled children to be undiagnosed.
‘Undiagnosed Children’s Awareness Day’ will take place on 13 April and aims to raise awareness of families’ experiences, to reach out to others who might need support and for families to come together in celebration of their children.
"Without a diagnosis life can be very isolating," Roberts continued. "Families often feel like they don’t “fit in” and without a diagnosis it can be very difficult to answer questions about their child.
"They don’t know what the future holds for their child – Will they walk? Talk? What will their life expectancy be? There are probably hundreds of parents,
grandparents and carers with children without a diagnosis out there feeling the same. We hope ‘Undiagnosed Children’s Awareness Day’ will help them find us so they know that we are here for them, that they aren’t alone."
SWAN is a term used to describe disabled children who are thought to have a genetic syndrome or condition that doctors have so far been unable toidentify. Many of these children have had lots of tests including blood tests, microarrays, lumber punctures, EEGs, ECGs and MRIs but they have all come back negative.
Posted 28/03/2013 by firstname.lastname@example.org