Northants 10-year-old is one of 6,000 children born every year with an undiagnosed genetic condition

On Friday 26 April 2024, SWAN UK (syndromes without a name), the only UK support community for these families, will be calling on people to spread the word and help more families find SWAN UK sooner.

Laura from North Norhampstonshire, whose 10-year-old son Charlie has an undiagnosed genetic condition, says: ‘Over the last 10 years We’ve had to battle and fight for everything, every service, every bit of extra support and equipment. Not having a diagnosis very often means you don’t tick boxes, and not ticking boxes means it isn’t straightforward for funding etc . It’s not easy, in fact it’s exhausting... and oh boy, there is so much paperwork! We’ve learnt to laugh rather than cry and appreciate the smallest things and that actually it’s OK to do things our way that works for us as a family.

‘We’ve lost family and friends, I’m sure of it, and have been accused of making up Charlie’s problems because we don’t have a diagnosis people can just google. This has undoubtedly led to struggles with my mental health as a result. I have been accused of “it all being in my head”, “lying”, “making it up” and even actually making Charlie ill for the attention.

‘We are so very proud of both Charlie and Chloe in the way they cope with what is our ‘normal’. I’m 100% sure that Chloe at 12 knows more about Charlie’s medical conditions than some professionals. SWAN UK means we are not alone, we don’t have to fight the battles that come with having a “complex” child without a diagnosis on our own. There is always someone at the end of a phone, email or message to give advice or even just an ear.’

SWAN UK’s Communications and Engagement Manager, Miriam Ingram says: ‘We know that for families like Laura’s, life can be extremely difficult as medical professionals can’t give them any answers and this can be a very lonely place to be. Without a diagnosis it can be hard to access all kinds of support because families can’t tick a box as to what is wrong with their child and it can mean they have to fight even harder to make sure that their child gets the help and support they need.

‘SWAN UK is a lifeline to these families, offering peer-to-peer support, events and opportunities, information and a sense of belonging.’

About Undiagnosed Children's Day

Undiagnosed Children’s Day is a nationwide event to raise awareness of children with undiagnosed genetic conditions, also known as syndromes without a name

About SWAN UK

SWAN UK, run by the charity Genetic Alliance UK, is the only dedicated support community for families affected by an undiagnosed genetic condition in the UK. We offer support and information to families affected by undiagnosed genetic conditions. We work with healthcare professionals educating them about undiagnosed genetic conditions and sharing with them the challenges that people in the SWAN UK community face.