For 18 years the James family were given expert guidance for their son’s diagnosis. Now that is gone
Marie James is a full-time carer to her youngest son Trystan(Image: Marie James)
Marie James and her husband have spent more than three decades caring for their son Trystan, who lives with a rare genetic condition that could lead to his premature death. 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 that 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 that puts him at constant risk of severe seizures.
TSC causes non-cancerous 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 that 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.”
Today 38-year-old Trystan also lives with a kidney tumour measuring 27cm. But his greatest day-to-day challenge is the severity and unpredictability of his seizures.
“He has seven different types of seizures,” Marie says. “He has daily seizures and weekly generalised seizures, which are the most serious ones. But all seizures can be a serious risk.”
Managing this takes constant vigilance and a complex care plan.
“He has six medications to try and control his seizures but his seizures are drug-resistant and he still has seizures. He has two medications that we use on an emergency basis when either the seizure doesn’t stop or when there are cluster seizures when he has one seizure and slight recovery and then has another one. Managing is quite a responsibility.”
With an epilepsy diagnosis also comes the risk of sudep – sudden unexpected death in epilepsy. Sudep refers to the sudden, unexplained death of an otherwise healthy person with epilepsy where no other cause of death is found after an autopsy.
Each year more than one in 1,000 people with epilepsy die from sudep making it the leading cause of death among those with uncontrolled seizures. This is a fear that Trystan’s family – and thousands of others – face every time their loved one experiences a seizure.
Marie described the emotional toll this takes on the family. “I am hypervigilant, watching out for seizures, and have been so for many, many years. I think that’s part and parcel of having a child who has seizures. You never get used to witnessing them and 30 seconds can feel like a lifetime.
“We’re actually helpless for the first three minutes. After three minutes if he’s still seizing we can give him emergency medication to try and stop the seizure. There’s of course the worry of whether it’s going to stop or when it’s going to stop. And that’s for every seizure that he has. So that’s relentless, which in turn brings on hypervigilance. That will never go whether he is asleep or awake.
“Trystan has diverse needs and requires two-to-one care around the clock because of his seizure burden. But when everything is well in his world it’s a joy to be in his company.”
Despite the relentless routine Trystan’s life is filled with humour, creativity, and love. He lives at home with his parents who have shaped his world around what brings him joy and comfort.
“We adore him,” Marie smiles. “He’s our youngest son. He has an older brother and while he struggles with anxiety and has been housebound for several years he is generally happy and content.”
To help him feel safe and stimulated at home the family made a remarkable decision. “He used to love going to arcades so we built him one of his own at the bottom of the garden,” Marie says. “He will leave the house to go there, which is absolutely wonderful.”
They even brought in a boat, adapted for wheelchair use, to create more joy in his garden sanctuary. “Sometimes we use a wheelchair to make things easier, especially when he was going out. He may occasionally use his wheelchair to get to the arcade or get onto his boat.”
Trystan enjoys retro game consoles, jigsaw puzzles, and laughter. “He has a great sense of humour,” Marie says. “He’s bubbly and very content. But he’s a night owl. He avoids bedtime because he fears having seizures in his sleep. So bedtime can be anywhere between 4am and 7am.
“He’s aware he has seizures but can’t tell us when they’re coming.”
The family is supported by a highly personalised care package and dedicated carers. “We’re lucky. We’ve got wonderful carers who support us in our home and whom Trystan loves. Of course it means our lives are under constant scrutiny but it’s the only way we can manage and keep going.”
A crucial part of their support was the Learning Disabilities Epilepsy Service (LD Epilepsy Service), which Trystan had attended for 18 years.
“It was fantastic,” Marie says. “It was led by an expert in the field who we fully trusted, who was familiar with each and every case, who was able to provide us with emergency cover plans when these breakthroughs of emergency episodes happened – they essentially kept us out of hospital.”
The service also provided highly-trained knowledgeable nurses who offered epilepsy training to carers like Marie. “They trained us in administering emergency medication, managing prolonged and cluster seizures, and following protocols. That gave us confidence. We could manage these episodes because we had a service we could call – one that gave us near-immediate responses. It was truly life-saving and life-enhancing.”
But in June 2021, without warning, Hywel Dda University Health Board withdrew the service following the departure of the lead consultant. The impact was immediate – and devastating – for more than 150 families including the James family.
“It was a massive shock,” Marie says. “We’d faced threats to the service before but funding had always been restored. When we heard rumours again we assumed it would be like previous times. But this time it was gone.”
There was no consultation, no continuity plan, and no transition support for patients with highly complex needs. “We were left on our own – in the dark, struggling,” she adds.
The service had supported 163 patients, many at high risk of sudep. After its closure families say patients were transferred to general neurology or GP care often without risk assessments, specialist oversight, or clear care plans.
“Some time after the clinic was withdrawn we received ‘easy read’ letters sent to our loved ones,” Marie recalls. “They said we’d be referred to neurology, psychiatry, or GPs and that a doctor would be in touch. That doctor never came. So no one knew what was happening or who was responsible for care.”
In December 2021 the health board commissioned a formal review led by Professor Rohit Shankar. His interim report, published in June 2023, described the previous service as a “gold standard.” He raised serious concerns about its withdrawal and the absence of a suitable replacement, warning that families were “feeling their way in the darkness” and that preventable deaths could occur.
Despite this, and despite the original consultant offering to return, the service was not reinstated.
“We’ve never been given an explanation,” Marie says. “We don’t understand why the health board has chosen to put our loved ones at increased risk of preventable premature death. That’s the cold hard truth. Our loved ones have been disregarded and we still don’t know why.”
The health board initially described the change as “temporary.” But families say that, despite multiple meetings with senior officials, no action has been taken.
Since then many families have reported worsening health outcomes: more emergency hospital admissions, unmanaged seizures, and long-overdue risk plan reviews. Concerns are especially high for those in residential care or young adults transitioning into adult services – many of whom have no one to advocate for them.
While a handful of patients, including Trystan, have been referred to epilepsy services in Swansea Bay most remain under GP care facing long waiting times and no specialist input.
“Trystan now sees a very good neurologist and I feel guilty, in a way, that we have that safety net,” says Marie. “Other families I know don’t. Some see neurologists who aren’t epilepsy specialists. There’s very little understanding of the intersection between epilepsy and learning disabilities.
“To my knowledge some families get 10 to 15 minutes with a neurologist – if they’re lucky. But our appointments with the old service were often half an hour, sometimes an hour. That depth of care made a huge difference.”
Frustrated by the lack of progress, Marie and six other mothers took their case to the Public Services Ombudsman.
“We didn’t want to go down that route,” she admits. “But we realised it was our only chance to get the health board to take our concerns seriously.”
Their worries are both immediate and long-term. Stay informed on the latest health news by signing up to our newsletter here.
“What if there’s an emergency? What if new types of seizures appear and families can’t get timely advice? The link to the expert service is gone.
“And we, as parent-carers, are getting older. Many of our children will eventually live in supported environments. Some already do but we still manage much of their care. When we’re no longer around who will advocate for them?
“We worry deeply about the vulnerable young adults who’ve moved from children’s services into adult care since 2021. Where are they now? What kind of support are they receiving? Are they safe?”
She continues: “We’ve been put into the general neurology system. There’s no guaranteed epilepsy specialism. Some have seen only locum consultants – no consistency, no continuity.”
One saving grace Marie highlights is Sudep Action, for which she serves as a policy champion. “Sudep Action is a charity that supports bereaved families but in doing so they also gather vital information to identify both risk factors and risk-reducing measures for families like mine,” she explains.
“They provide us with checklists and produce invaluable reports, such as the Clive Treacy report, which help ensure that we, as carers, can provide the best possible care.”
These resources have been extremely helpful to Marie and the six other mothers – especially during times when they have felt alone in light of the health board’s failings.
The need for support has become even more apparent in recent weeks. The ombudsman’s recently-published report found serious failings by the health board and laid out specific recommendations. Now families are demanding urgent action.
“We’re no longer willing to wait for vague promises,” says Marie, speaking for the group. “Epileptic seizures are unpredictable. We live with that reality every day and need the right support to keep our loved ones safe.”
“We need access to appropriate care, risk assessments, and information about sudep. Specialist services for adults with learning disabilities and epilepsy must be restored not just for some families but for everyone.”
“The health board must put right the injustice caused to all those affected. They must act now – not with words but with meaningful change. Vulnerable lives matter and it’s time they proved it.
“We lost a valued service but we know what good care looks like. That gives us strength. We’ll keep fighting until what’s right is done.”
In light of the ombudsman’s report Sharon Daniel, director of nursing, quality, and patient experience at Hywel Dda University Health Board, said: “We acknowledge the findings of the ombudsman’s report and we are deeply sorry for the distress and upset caused to learning disability epilepsy patients and their carers. This is not how we want to perform as a health board and will strive to do better.
“We recognise that the way that we approached the removal of the specialist learning disability epilepsy service and the way in which we dealt with patients’ complaints has led to a break-down in trust in the health board and we must rebuild this trust with patients and carers.
“We accept the ombudsman’s recommendations and have started working on ways we can improve. We have appointed a learning disability epilepsy nurse specialist (LDENS) to support patients and a learning disability pharmacist who works alongside our community team for learning disabilities and LDENS.
“We are also working on a learning disabilities service improvement plan and are developing a new service model which will ensure that people with learning disabilities receive fair, equal, and person-centred access to health care.”