“We have the most wonderful of teachers in Trystan; he motivates and inspires us on a daily basis.”
“Trystan, our youngest son, lives at home with his dad Perry and I. Trystan has one brother, Robert, who is five years older than him.
In the mid 80’s, the University Hospital of Wales in Cardiff, some 60 miles from our home, had the nearest CT Scanner. At the time, it was probably the only hospital in Wales that did have one.
It was just before lunchtime when the Paediatric Neurologist quietly slipped into our side room on the Children’s Ward and closed the door. She closed the door. That one, simple act instantly significant. We’d spent four nights in that hospital room waiting for the scan and results. Trystan was 8 months old, fast asleep in his hospital cot.
Backtrack to five months earlier when Trystan, who appeared totally healthy and was thriving, started having little seizures. It was my grandmother that first recognised them as such. They became frequent, multiple daily ones that got progressively stronger and longer. Diagnosis of epilepsy was swift. Medication didn’t control these seizures and the wait for the CT scan to identify or rule out the underlying cause was our first experience of countless subsequent ‘waits’.
The diagnosis was a blunt telling: Tuberous Sclerosis Complex, strange sounding and totally unfamiliar words. The neurologist scribbled them on a piece of paper for us. She explained that the CT scan had shown brain tumours, I asked in a shaky voice if surgery was possible and was told that there were far too many tumours, I asked would there be development delays and was told yes, more than likely.
Crushing words that stifled immediately our ability to ask anything else. And that was it; no one could, or would, tell us any more. We left the hospital holding tight our beautiful little baby boy and that little piece of paper on which, mercifully, the neurologist had also written the telephone number for the TSA.
The following weeks were surreal. We were functioning on automatic pilot, from what felt like a bubble. Surrounded by family and friends yet isolated, helpless and lost. The first call to the TSA set us on the road to gain valuable factual information. I will always be grateful that the TS Association was established. Three incredibly determined TSC Mums had organised an inaugural meeting of the Association ten years earlier, in 1977. We immediately benefitted from the warm welcome and the staunch support of Ann Hunt, Janet Medcalf and Anne Carter, all Volunteer Mums. Contact was initially by telephone and letters. I counted down the days to the first opportunity of meeting them all at the TSA Conference that November.
We were drip fed information by post about TSC, the multisystem issues and how it can affect any system of the body, how it can be degenerative and of the complexities that can be life threatening. It was long before the days of home computers, the Internet and social media. There were no TS Clinics and there was little medical understanding of TSC.
Learning of the newly established TSA Research Fund gave us much needed hope and it empowered us. We put our energy into awareness and fundraising. The response locally was enthusiastic and we benefitted from fantastic support. The amount raised over the years is phenomenal, thanks to the kind help of family, friends and that of strangers. It was particularly therapeutic in those early years and remains so. The ripple effect of having such a rare diagnosis as TSC has kept our family close, united from the onset in seeking best outcomes for Trystan.
Volunteering for different organisations such as the TSA and the National Autistic Society (NAS) is empowering and rewarding. Perry and I both served as TSA Trustees for two decades. Perry remains on the Research Committee and having undertaken various TSA roles, I am currently a TSC Ambassador. Sharing our story of family life with TSC with talks to students and the media and getting involved in campaigns is part and parcel of life. Volunteering as parent/patient representatives for key Organisations and on a number of Steering and Implementation Groups has given us an insight into how services are organised and of structures, all whilst giving opportunities to push for improvements and change.
Social Media and the links we can now make with other TSC families worldwide widen our network of support and access to information of benefit, particularly around emerging treatment options and Research developments. For the past few years I have been fortunate to co administer the Tuberous Sclerosis Mums & Dads UK Facebook Group, along with Jo-Anne Dale, another TSC Mum.
Over the years, there have been good periods when life has been kind to Trystan. When all is well in his world he is a happy contented young man. He has a huge delight in clocks, mini cars, coin slotting and his computer games. His face beams with delight when he gently holds little babies in his arms.
On diagnosis we were given a bleak prognosis; Trystan is now 33 years old.
Trystan has always needed 1:1 (and by now 2:1) support 24/7. His current lifestyle is unconventional, but it is as best suits his needs and is as he choses. His self-isolation and anxieties curtail so much of what used to please him. There have been numerous concerning periods over the three decades that somehow he has overcome. His strength and resilience in facing head on what TSC throws at him is incredible. I am so proud to be his mum.
We hardly dared hope of treatments becoming available within Trystan’s lifetime. Remarkable, groundbreaking progress in scientific developments has made this a reality. Emerging treatment options give Trystan and others with TSC a fighting chance against some of the issues. Delays in accessing opportunities for all who need to try these treatments, however, are prolonged and frustrating. In many respects the ‘waiting’ has always been the worse – for appointments, for results, for appropriate treatment, for assessments, for services to meet identified needs and for the added diagnosis that can all be part and parcel of having TSC. The list is endless and often seems relentless. The lack of resources and understanding of needs and hoops to jump through to try and ensure best possible care and support for families like mine is an invisible, but hard barrier, nonetheless. The learning curve has been a continuous one. Thankfully, one of thirty-three years… and counting for us. We have the most wonderful of teachers in Trystan; he motivates and inspires us on a daily basis.
The best words of advice we had in those early days were: ‘One Day at a Time’.
It continues to hold us in good stead.”
– Marie James