Ask the Expert: Why can't my daughter's condition be diagnosed?
Q: MY THREE-year-old daughter isn't developing at the same rate as other children her age but she's had tests and doctors haven't found what's wrong with her. I feel so frustrated because I want to help her and don't know how. How common is it for a child to clearly have something wrong with them, but for it to remain undiagnosed?
A: Speaking to highlight Undiagnosed Children's Day (April 26), Jayne Spink, chief executive of Genetic Alliance UK (geneticalliance.org.uk), which runs Swan UK (Syndromes Without A Name UK), says: "It can be really difficult and frustrating for families when they have no answer to the question, 'What's wrong with my child?' or, 'Why is my child always ill?'
"It's estimated that around 6,000 babies are born every year affected by a syndrome without a name (Swan) – a genetic condition so rare it can be very difficult to diagnose.
"This might be because the condition is so rare that the underlying cause has not yet been identified, or because the child's symptoms might be different to those of other children with the same condition. Currently around half of all children having genetic testing through NHS regional genetic centres won't get a confirmed diagnosis.
"Some children affected by a syndrome without a name have learning disabilities and/or physical disabilities and may not develop at the same rate as other children their age. The range of physical symptoms children have may include problems with muscle tone, joints, feeding and swallowing, and breathing difficulties – each child is likely to be affected differently.
"For most families, getting a diagnosis remains just as important as their child grows up. Without a diagnosis families can struggle to access the right support. They have no idea what the future holds for their child or if other children they may have in the future could be affected.
"For families with an undiagnosed child, being able to access support and information is vital. Swan UK (undiagnosed.org.uk, or call 0207 831 0883) is a unique specialist support network that gives families support and information in hospital, at home and in their local communities."