Marie James


My husband Perry and I first heard the words ‘Tuberous Sclerosis’ 30 years ago, when Trystan our youngest son was diagnosed with TSC in 1987, writes Marie James, TSA Ambassador. 

He was 8 months old. 
 
We don't forget the days that alter the course of life forever.  
A day that shattered our future dreams for him. 
 
We have always regarded ourselves fortunate that we learned on diagnosis of the existence of the TSA. I made immediate contact, whilst holding my baby close, holding back the tears threatening to engulf me. The future seemed bleak, frightening, unknown. So much yet to learn about TSC; So much that could go wrong; So many hurdles to jump & obstacles to overcome.   
 
Ann Hunt, a TSA founder Mum, Campaigner & Researcher was the first mum I spoke to, quickly followed by contact from Janet Medcalf and Anne Carter.   
 
Ann, Janet and Anne gave of themselves and their time so willingly to help TSC families who reached out for help and support. Together they were three extraordinary TSC warriors, who worked voluntarily for the Association for many years. 
 
We gained accurate information & wonderful enduring support and valued friendships.  Although it was, of course, devastating to learn of all of the potential difficulties associated with the condition we were greatly encouraged to learn of the Research Work that was being undertaken by the Association and immediately began our Fundraising & Awareness Campaign to support research into TSC.  The TSA was celebrating its 10th Anniversary and the work had begun to try and identify the genes involved. It gave us a focus to channel our energies & much needed hope! We embraced the opportunity; being pro active and involved has, and continues to be, both therapeutic & rewarding. Life with TSC can be tough for many, frequently the only control we have is how we react when faced with difficult situations.   
 
Thirty years ago we hardly dared dream of TSC treatment becoming available in Trystan's life time; this is now a reality, he & many others are benefitting from emerging treatment options. TSC Research development in the past three decades has been remarkable, much of this work from the dedicated long term commitment of TSC Researchers in Wales and the UK.  
 
Local support to our TSA fundraising Campaign over the years has been wonderful & very much appreciated. We are indeed indebted to our long-term supporters, the generosity and kindness shown to us is indeed humbling. 
 
Together Perry and I initially became TSA Regional Representatives in 1989, various voluntary roles followed including TSA Welsh Organisers. We both served 19 years as Trustees. Currently Perry is a member of the TSA Research Committee; I am a TSA Ambassador and Wales Support.   
 
Over the years we have had the pleasure of attending several TSA Press Conferences & Campaign events – TSC2 Identification (Cardiff 1993) and the TSC1 Identification (London 1997); TSA Gingerbread event at the Dorchester Hotel; Launch of £5 million TSA Appeal at the London Apollo Theatre at the Dr Doolittle Event; the TSA Siblings Celebrity launch in Planet Hollywood supported by the South African Rugby Team 1999 and the 25th Anniversary Reception at No. 10 Downing Street, hosted by Cherie Booth QC, to name but a few!  All of which generated considerable media attention.   
 
Volunteering brings great opportunities to engage and raise awareness via Press articles and Radio & TV Interviews. Fortunately Trystan has always enjoyed being filmed. He loves to see himself on TV and has hours and hours of unedited footage from a number of TSC linked NHS Care, Education & Autism documentaries of him - to watch, on repeat, almost constantly!  
 
There have also been numerous occasions to share a little of our TSC Journey, when invited to speak at various conferences and venues and to raise issues of barriers to accessing services and treatment – from Westminster to the Welsh Assembly to Local Authorities and at related Third Sector Events. Great to have the opportunities to enlighten and inform: from an audience of 1700 to smaller groups of Medical Students at the Genetic Institute in Cardiff.   A Highlight was being invited to speak at the TSC International Research Conference in Windsor in 2015 and too a recent invitation to join the Welsh Rare Diseases Implementation Group. 
  
As the years advance, the personal experiences of raising a child who is now a young adult, have not only increased naturally but have been diverse. In addition to our own experience, active engagement with TSA Members and the wider TSC Community is key in gaining a better understanding of TSC and how it affects individuals. It is a privilege to learn and have a little insight of other’s experiences. 
 
It was a great surprise and an honor for us both to receive the first Maggie Smith Challenge Award in 2003 for prolonged and sustained commitment to TSA fundraising and awareness. 
 
Life with TSC & all it throws at families like ours is a rollercoaster; one minute in the depths of despair holding on for dear life helplessly witnessing a seizure or fighting to access treatment of services; the next minute soaring high on the simple pleasure of a smile or achievement of a long hoped for milestone.  
 
For TSC Families the waiting can often be the worst – for added diagnoses, for referrals, for appointments, for assessments, for scans, for reports, for treatments, for therapies, etc., the list seems endless. Once we have pathways or plans, holding onto treatment, provision or services can cause further anxieties and stresses. 
 
We know that often there are no answers to our questions. Our life is one of complex health and diverse social needs.   
 
Thirty years on and in hindsight we recognize how far we have come, the struggles he has endured just to be here. Trystan amazes us how he battles on almost regardless of how poorly he sometimes can be. He has a highly individualized and tailored personal package of care which enables him to live at home with us. He has intractable epilepsy, complex autism, a severe learning disability, behaviors that may be perceived to be challenging and serious health concerns. He requires 24/7 care with 2:1 or 3:1 support. 
 
The future cannot be predicted, TSC can be a cruel disorder and it has a ripple effect that dictates so much of what we do and how we do it.  
 
We consider ourselves fortunate for the support Trystan has; our close supportive family who adore him, the professionals who go above and beyond, and the wonderful families who share a similar journey that we are privileged to meet.  
 
Social media does facilitate links with others in the TSC Community and on a worldwide platform and life is possible a little less isolating. However the TSA events are always eagerly anticipated here, just as much nowadays as the very first AGM Conference in 1987 - The connections and friends made are our life lines.  
 
Diagnosis at 8 months of age didn’t change our adorable baby son.   

It simply changed us.  

Forever. 

The years have taught us to celebrate the amazing, unique & complex young man Trystan has become and how important it is to appreciate and enjoy the good periods!