For 18 years the James household got skilled steerage for his or her son’s prognosis. Now that’s gone
Marie James and her husband have spent greater than three many years caring for his or her son Trystan, who lives with a uncommon genetic situation that would result in his untimely loss of life. His care at their house in Cross Palms in Carmarthenshire is fixed, advanced, and important – and now the specialist help that after helped him has been taken away.
Trystan was simply three months previous when he had his first seizure – a second that may mark the start of an extended and unsure journey for the James household.
“Again in 1987 there was just one CT scanner in the entire of Wales,” Marie recollects. “We needed to look forward to our flip and as soon as he lastly had the scan they instantly noticed a number of mind tumours. He nonetheless has them. They can not be operated on… there are simply too many.”
At eight months previous Trystan was formally recognized with tuberous sclerosis advanced (TSC), a lifelong dysfunction that places him at fixed danger of extreme seizures.
TSC causes non-cancerous tumours – referred to as hamartomas – to develop in very important organs together with the mind, kidneys, coronary heart, lungs, and pores and skin. No two instances are the identical and for Trystan the affect has been profound. His signs embrace epilepsy, autism, studying difficulties, and ongoing well being problems that require round the clock care.
In a single dialog the longer term Marie and her husband had imagined for his or her son shifted utterly. Life turned about managing the unknown hamartomas studying, adapting, and caring for a kid whose wants had been each advanced and lifelong.
“His prognosis is what’s known as a brand new mutation so there is not any household historical past of the genetic dysfunction,” Marie shares. “Your priorities change when you may have a baby with particular wants. You are thrown right into a world of language that’s unfamiliar and it is a steep studying curve.
“With the social companies, schooling, and well being organisations – you need to study their standards and insurance policies and procedures to have the ability to get what’s wanted to fulfill recognized wants.”
As we speak 38-year-old Trystan additionally lives with a kidney tumour measuring 27cm. However his biggest day-to-day problem is the severity and unpredictability of his seizures.
“He has seven various kinds of seizures,” Marie says. “He has every day seizures and weekly generalised seizures, that are essentially the most critical ones. However all seizures is usually a critical danger.”
Managing this takes fixed vigilance and a posh care plan.
“He has six drugs to attempt to management his seizures however his seizures are drug-resistant and he nonetheless has seizures. He has two drugs that we use on an emergency foundation when both the seizure would not cease or when there are cluster seizures when he has one seizure and slight restoration after which has one other one. Managing is kind of a accountability.”
With an epilepsy prognosis additionally comes the chance of sudep – sudden surprising loss of life in epilepsy. Sudep refers back to the sudden, unexplained loss of life of an in any other case wholesome particular person with epilepsy the place no different explanation for loss of life is discovered after an post-mortem.
Annually a couple of in 1,000 folks with epilepsy die from sudep making it the main explanation for loss of life amongst these with uncontrolled seizures. It is a concern that Trystan’s household – and 1000’s of others – face each time their beloved one experiences a seizure.
Marie described the emotional toll this takes on the household. “I’m hypervigilant, watching out for seizures, and have been so for a lot of, a few years. I believe that is half and parcel of getting a baby who has seizures. You by no means get used to witnessing them and 30 seconds can really feel like a lifetime.
“We’re really helpless for the primary three minutes. After three minutes if he is nonetheless seizing we can provide him emergency remedy to attempt to cease the seizure. There’s after all the fear of whether or not it should cease or when it should cease. And that is for each seizure that he has. In order that’s relentless, which in flip brings on hypervigilance. That can by no means go whether or not he’s asleep or awake.
“Trystan has numerous wants and requires two-to-one care across the clock due to his seizure burden. However when every little thing is nicely in his world it is a pleasure to be in his firm.”
Regardless of the relentless routine Trystan’s life is stuffed with humour, creativity, and love. He lives at house along with his dad and mom who’ve formed his world round what brings him pleasure and luxury.
“We love him,” Marie smiles. “He is our youngest son. He has an older brother and whereas he struggles with nervousness and has been housebound for a number of years he’s typically comfortable and content material.”
To assist him really feel protected and stimulated at house the household made a exceptional determination. “He used to like going to arcades so we constructed him certainly one of his personal on the backside of the backyard,” Marie says. “He’ll go away the home to go there, which is completely fantastic.”
They even introduced in a ship, tailored for wheelchair use, to create extra pleasure in his backyard sanctuary. “Generally we use a wheelchair to make issues simpler, particularly when he was going out. He could sometimes use his wheelchair to get to the arcade or get onto his boat.”
Trystan enjoys retro recreation consoles, jigsaw puzzles, and laughter. “He has a fantastic sense of humour,” Marie says. “He is bubbly and really content material. However he is an evening owl. He avoids bedtime as a result of he fears having seizures in his sleep. So bedtime might be wherever between 4am and 7am.
“He is conscious he has seizures however cannot inform us after they’re coming.”
The household is supported by a extremely personalised care bundle and devoted carers. “We’re fortunate. We have fantastic carers who help us in our house and whom Trystan loves. In fact it means our lives are beneath fixed scrutiny nevertheless it’s the one method we will handle and hold going.”
An important a part of their help was the Studying Disabilities Epilepsy Service (LD Epilepsy Service), which Trystan had attended for 18 years.
“It was incredible,” Marie says. “It was led by an skilled within the subject who we absolutely trusted, who was accustomed to every case, who was capable of present us with emergency cowl plans when these breakthroughs of emergency episodes occurred – they primarily saved us out of hospital.”
The service additionally offered highly-trained educated nurses who provided epilepsy coaching to carers like Marie. “They skilled us in administering emergency remedy, managing extended and cluster seizures, and following protocols. That gave us confidence. We might handle these episodes as a result of we had a service we might name – one which gave us near-immediate responses. It was actually life-saving and life-enhancing.”
However in June 2021, with out warning, Hywel Dda College Well being Board withdrew the service following the departure of the lead advisor. The affect was fast – and devastating – for greater than 150 households together with the James household.
“It was an enormous shock,” Marie says. “We would confronted threats to the service earlier than however funding had at all times been restored. Once we heard rumours once more we assumed it will be like earlier occasions. However this time it was gone.”
There was no session, no continuity plan, and no transition help for sufferers with extremely advanced wants. “We had been left on our personal – at midnight, struggling,” she provides.
The service had supported 163 sufferers, many at excessive danger of sudep. After its closure households say sufferers had been transferred to basic neurology or GP care typically with out danger assessments, specialist oversight, or clear care plans.
“A while after the clinic was withdrawn we obtained ‘straightforward learn’ letters despatched to our family members,” Marie recollects. “They stated we might be referred to neurology, psychiatry, or GPs and that a health care provider could be in contact. That physician by no means got here. So nobody knew what was taking place or who was answerable for care.”
In December 2021 the well being board commissioned a proper evaluate led by Professor Rohit Shankar. His interim report, revealed in June 2023, described the earlier service as a “gold commonplace.” He raised critical issues about its withdrawal and the absence of an acceptable alternative, warning that households had been “feeling their method within the darkness” and that preventable deaths might happen.
Regardless of this, and regardless of the unique advisor providing to return, the service was not reinstated.
“We have by no means been given a proof,” Marie says. “We do not perceive why the well being board has chosen to place our family members at elevated danger of preventable untimely loss of life. That is the chilly arduous reality. Our family members have been disregarded and we nonetheless do not know why.”
The well being board initially described the change as “short-term.” However households say that, regardless of a number of conferences with senior officers, no motion has been taken.
Since then many households have reported worsening well being outcomes: extra emergency hospital admissions, unmanaged seizures, and long-overdue danger plan critiques. Issues are particularly excessive for these in residential care or younger adults transitioning into grownup companies – lots of whom have nobody to advocate for them.
Whereas a handful of sufferers, together with Trystan, have been referred to epilepsy companies in Swansea Bay most stay beneath GP care going through lengthy ready occasions and no specialist enter.
“Trystan now sees an excellent neurologist and I really feel responsible, in a method, that we now have that security web,” says Marie. “Different households I do know do not. Some see neurologists who aren’t epilepsy specialists. There’s little or no understanding of the intersection between epilepsy and studying disabilities.
“To my information some households get 10 to fifteen minutes with a neurologist – in the event that they’re fortunate. However our appointments with the previous service had been typically half an hour, typically an hour. That depth of care made an enormous distinction.”
Pissed off by the shortage of progress, Marie and 6 different moms took their case to the Public Companies Ombudsman.
“We did not need to go down that route,” she admits. “However we realised it was our solely likelihood to get the well being board to take our issues severely.”
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“What if there’s an emergency? What if new varieties of seizures seem and households can’t get well timed recommendation? The hyperlink to the skilled service is gone.
“And we, as parent-carers, are getting older. A lot of our kids will finally reside in supported environments. Some already do however we nonetheless handle a lot of their care. Once we’re now not round who will advocate for them?
“We fear deeply concerning the weak younger adults who’ve moved from youngsters’s companies into grownup care since 2021. The place are they now? What sort of help are they receiving? Are they protected?”
She continues: “We have been put into the overall neurology system. There isn’t any assured epilepsy specialism. Some have seen solely locum consultants – no consistency, no continuity.”
One saving grace Marie highlights is Sudep Motion, for which she serves as a coverage champion. “Sudep Motion is a charity that helps bereaved households however in doing so additionally they collect very important data to establish each danger elements and risk-reducing measures for households like mine,” she explains.
“They supply us with checklists and produce invaluable studies, such because the Clive Treacy report, which assist be certain that we, as carers, can present the absolute best care.”
These assets have been extraordinarily useful to Marie and the six different moms – particularly throughout occasions after they have felt alone in gentle of the well being board’s failings.
The necessity for help has grow to be much more obvious in current weeks. The ombudsman’s recently-published report discovered critical failings by the well being board and laid out particular suggestions. Now households are demanding pressing motion.
“We’re now not prepared to attend for imprecise guarantees,” says Marie, talking for the group. “Epileptic seizures are unpredictable. We reside with that actuality daily and wish the best help to maintain our family members protected.”
“We’d like entry to applicable care, danger assessments, and details about sudep. Specialist companies for adults with studying disabilities and epilepsy have to be restored not only for some households however for everybody.”
“The well being board should put proper the injustice triggered to all these affected. They need to act now – not with phrases however with significant change. Weak lives matter and it’s time they proved it.
“We misplaced a valued service however we all know what excellent care seems like. That offers us power. We’ll hold preventing till what’s proper is finished.”
In gentle of the ombudsman’s report Sharon Daniel, director of nursing, high quality, and affected person expertise at Hywel Dda College Well being Board, stated: “We acknowledge the findings of the ombudsman’s report and we’re deeply sorry for the misery and upset triggered to studying incapacity epilepsy sufferers and their carers. This isn’t how we need to carry out as a well being board and can attempt to do higher.
“We recognise that the best way that we approached the elimination of the specialist studying incapacity epilepsy service and the best way during which we handled sufferers’ complaints has led to a break-down in belief within the well being board and we should rebuild this belief with sufferers and carers.
“We settle for the ombudsman’s suggestions and have began engaged on methods we will enhance. We now have appointed a studying incapacity epilepsy nurse specialist (LDENS) to help sufferers and a studying incapacity pharmacist who works alongside our group group for studying disabilities and LDENS.
“We’re additionally engaged on a studying disabilities service enchancment plan and are creating a brand new service mannequin which is able to be certain that folks with studying disabilities obtain truthful, equal, and person-centred entry to well being care.”
