My son could die at any time - he's been failed by the system

MARIE James and her husband have spent more than three decades caring for their son Trystan, who lives with a rare genetic condition which could lead to his premature death.

- LOIS MCCARTHY

His care at their home in Cross Hands in Carmarthenshire is constant, complex and essential - and now the specialist support that once helped him has been taken away.

Trystan was just three months old when he had his first seizure - a moment which would mark the beginning of a long and uncertain journey for the James family.

“Back in 1987 there was only one CT scanner in the whole of Wales,’ Marie recalls. “We had to wait for our turn and once he finally had the scan, they immediately saw multiple brain tumours. He still has them. They can’t be operated on... there are just too many.”

At eight months old Trystan was officially diagnosed with tuberous sclerosis complex (TSC), a lifelong disorder which puts him at constant risk of severe seizures.

TSC causes noncancerous tumours - known as hamartomas - to grow in vital organs including the brain, kidneys, heart, lungs and skin.

No two cases are the same and for Trystan, the impact has been profound. His symptoms include epilepsy, autism, learning difficulties and ongoing health complications which require round-the-clock care.

In a single conversation, the future Marie and her husband had imagined for their son shifted completely.

Life became about managing the unknown hamartomas, learning, adapting and caring for a child whose needs were both complex and lifelong.

“His diagnosis is what's called a new mutation so there’s no family history of the genetic disorder,” Marie shares.

“Your priorities change when you have a child with special needs. You're thrown into a world of language that is unfamiliar and it's a steep learning curve.

“With the social services, education and health organisations you have to learn about their criteria and policies and procedures to be able to get what's needed to meet identified needs.”