How a support network helps the family of a 10-year-old Corby boy who has a condition that’s so rare it doesn’t have a name

Syndromes Without a Name (SWAN) UK are today calling on people to spread the word and help more families find them sooner.

Today is Undiagnosed Children’s Day, their annual awareness day, where they spread the word about what it means to be affected by a syndrome without a name.

SWAN UK work with families of children and young adults up to 25-years-old who are affected by an undiagnosed genetic condition, including Laura and Steve Parkes from Corby, whose 10-year-old son Charlie is a ‘SWAN’.

Charlie’s issues started in Laura’s pregnancy, where she and Steve were told at their 20-week scan that he looked to have an abnormality in his brain and also excess fluid surrounding it.

After further tests and more in depth scans they were warned at 30 weeks that there was a high chance he would struggle developmentally with things like walking and talking.

He spent the vast majority of the first two years of his life in hospital about an hour away from home, which was a huge strain on the family.

They’ve travel;ed all over the country to see various specialists and get second opinions and multiple appointments/therapies a week are not uncommon.

Although as he’s grown he has become stronger and more robust, along with Laura and Steve becoming much more knowledgeable and confident in dealing with his medical/health issues, he does still get poorly a lot more than other children.

With Charlie’s condition having not been diagnosed it can make it very difficult for people to understand.

Laura said: “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. It’s not easy, in fact it’s exhausting.

“We’ve learnt to laugh rather than cry and appreciate the smallest things and that actually it’s okay to do things our way that works for us as a family.”

Charlie struggles with the world on a daily basis due to anxiety, sensory processing issues and the need for decisions and control to feel safe, but he continues to push himself to ‘fit in’ and do what his friends and peers are doing.

He previously attended a mainstream school but at the end of the academic year in 2022 they made the decision to leave school and start home education.

Laura said: “We are so very proud of both Charlie and Chloe (Charlie’s sister) in the way they cope with what is our ‘normal’. I’m 100 per cent sure that Chloe at 12 knows more about Charlie’s medical conditions than some professionals.”

SWAN UK is the only dedicated support network in the UK for families affected by a syndrome without a name – a genetic condition so rare it often remains undiagnosed.

The aim of SWAN UK is that every family gets the support that they need, regardless of whether or not they have a diagnosis.

Laura discovered SWAN UK on Facebook. It’s given the family a chance to connect with other families who are going through a similar situation.

She said: “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.

“Having an undiagnosed condition has made us stronger as a family and is taking us on a journey we’d never expected.

“We’ve met people, made friends with other wonderful families and experienced things we may never had got the chance too thanks to SWAN UK.”

For more information about SWAN UK, visit their website.