Today is Undiagnosed Children’s Day, celebrating the bravery of children with undiagnosed genetic conditions. 6,000 children are born in the UK each year with a syndrome without a name – a genetic condition so rare that is likely to remain undiagnosed.
Without a diagnosis families can struggle to access the right support and have no idea with the future holds for their child. Will they walk? Will they talk? What is their life expectancy? How will it affect future children?

This is Laura’s story…
Can you imagine?
Before I became Brody’s mum, I had barely stepped foot inside a hospital. I rarely saw doctors. I had no experience of physiotherapy. I didn’t even know what an Occupational Therapist was. I couldn’t unfold a buggy, let alone a wheelchair. I didn’t loathe that Red Book. And the smell of hospital soap on my hands didn’t make me feel anxious, holding memories I’d rather forget.

Brody is six years old and has a syndrome without a name – a genetic condition so rare that doctors are unable to tell us what it is, despite numerous tests over the years. From chromosomal microarray testing, MRIs and EEGs to the Deciphering Developmental Disorders (DDD) study, the GACE study and the 100,000 Genomes Project (SGP here in Scotland). So far we have no answers except secondary diagnoses of epilepsy, autism and hypermobility.
No diagnosis means living in a land of limbo and no prognosis. We don’t know what the future will look like for Brody. A few years ago, Brody being undiagnosed meant weekly appointments and therapies, but these days we are grateful to average around two a month. Whilst this is without a doubt a blessing, I know as he gets older and as each health professional discharges him (despite no improvement in his disabilities) we are getting further away from ever finding out any answers.
I love Brody with all my heart but my worries for him are endless and at times, it can be quite overwhelming being the parent of an undiagnosed child.
All I can do is imagine how Brody must feel.
Imagine being six years old and unable to talk. Unable to let those around you know how you feel and what you want. Relying on others to guess when you’re hungry, tired, feeling unwell or what you want for birthdays and Christmases.

Imagine being six years old and taken to see numerous health professionals, but not understanding why or what they’re doing. Being expected to tolerate needles in your arms, things stuck to your head or someone taking a mould of your foot.

Imagine being six years old and being frustrated that your limbs tire easily and are unable to do the same things as others.

Imagine being six years old and doubly-incontinent but more often than not there is nowhere for your parents to change you when you’re out so they resort to using the car boot.

Imagine all of the above and then some.
Then imagine a six year old boy who more often than not has a smile on his face.

A six year old boy that loves to laugh.

A six year old boy that has always taken what life has thrown at him in his stride.

A six year old boy with the superpowers of strength, resilience and the ability to put a smile on almost everybody’s face (well there’s always one miserable person at the supermarket isn’t there?).
That’s Brody – a true superhero.

My superhero and beautiful boy.

SWAN UK (syndromes without a name) is the organiser of Undiagnosed Children’s Day, and the only dedicated support network in the UK for families of children and young adults with undiagnosed genetic conditions. SWAN UK runs free whole family events, give access to 24/7 support and put families in touch with each other so they feel less alone. If you have a child with a syndrome without a name, get in touch and see how they can help you. SWAN UK is run by the charity Genetic Alliance UK.