#worldTSCconference - 'Empowering the global TSC community' by Carole Hagan

Dallas, Texas –  July 26th- 29th  2018

The TSAlliance 2018 world conference had a colourful logo which had Knowledge, Inspiration and Unity emblazoned on it.

The conference certainly achieved those aims from the very first session to the last.

800 people, mostly in families, attended from all over the world, 27 countries were represented including Canada, Spain, Mexico and Israel. It was possible to meet the families at meal times and organised events such as meet and greet sessions. The first session I attended was the day before the conference and was a meet and greet with parents of adults with TSC. We might live thousands of miles apart but we shared stories about our adult children and the challenges they face medically, psychologically and socially. I have since become Facebook friends with a couple of these families.

This was followed by the first conference dinner and I met up with Clare Kassa, Head of Support for the TSA, Annemarie Cotton, a TS mum from the UK and Sheila Cook, a TSC grandmother.  I was struck by the atmosphere which reminded me of the Family Weekends we used to hold in the UK. The community spirit, the bond and affection between families was moving and uplifting -the shared experiences, the highs and lows of living with TSC -nothing compares to these face-to-face events.

What did I learn?  I learned that the future is bright.  I learned that we can be confident that the TSC Clinical Consensus Guidelines for diagnosis, surveillance and management of TSC for health practitioners are revised with expertise and seen as international gold standards for TSC.  I learned that there are huge advances in therapies for epilepsy, lung (LAM) and kidney (AML) involvement, as well as TSC neuropsychiatric disorders (TAND) and there are now more reproductive options for parents who already have TSC.

 I heard about trials for 'Epidiolex' –a purified biological cannabidiol (CBD) drug for intractable epilepsy in TSC. This drug will soon be available in the US.  The amazing ‘Seizure Tracker.com' App designed by a TSC parent, Robert Moss is giving researchers a lot of information about people's epilepsy and helps people to record when their seizures happen and to notice any patterns, thereby enabling thinking about triggers. I met wonderful service dogs that alert patients of oncoming seizures.

There is growing evidence of the impact of 'Everolimus' -an mTOR Inhibitor - on tumours in the brain, lungs and kidneys. Other organs are involved in TSC, like the teeth, bones, liver, pancreas, eyes and ovaries. In fact tumours can appear anywhere. My own daughter takes the mTOR inhibitor Sirolimus for a tumour in her jaw bone.

Petrus de Vries, from South Africa, spoke about 'TAND' and how people with TSC should be screened once a year using the TAND checklist and receive treatment for mental health problems if identified.

I also attended a session on how parents might deal with challenging behaviours, American clinicians were recommending 'Time Out' as a solution, I personally feel there are many other strategies that parents could use including positive reframing and positive verbal reinforcement while staying calm and in control.

We heard that parents should advocate strongly for their children with TSC and don’t be put off by medics thinking you are an overbearing parent!

We heard about the major projects that are happening with international cooperation:  TSC International TSCI,  ‘PReVENT’ - Preventing Epilepsy using Vigabatrin in infants with Tuberous Sclerosis &  ‘TSCure’  focusing on early intervention and prevention of TSC manifestations in children and adults.

We heard about the positive consequences of identifying TSC before birth if possible and beginning a course of the AED Vigabatrin to prevent epilepsy and challenging behaviours from commencing. This is of course a particularly exciting development. Previously only the heart tumours (cardiac rhabdomyomas) could be picked up prenatally but now the brain tumours can be seen because of MRI scans and so parents can know before their babies are born that they have TSC.

Throughout the conference people shared their own stories which were always very emotional and moving. Of course one of the challenges that families face in the US is accessing and paying for medical treatment.

Families pay differing amounts for health insurance, one family was paying $1000 a month!  We have our own battles accessing appropriate treatments but we don't have as much stress as some of our American TSC families in that respect.

I wanted to know about gene therapy and was told that gene therapy is complex for multisystem disorders like TSC - but in the future gene therapy might be used to target a particularly troublesome tumour, for example. 

During the conference we were reminded that the success of clinical trials depends on having willing volunteers to take part in them and we were also told about the benefits of collecting tissue samples for research. Also we have to accept that animal models like mice and rats are used in the first stages of a clinical trial. These animals are often genetically modified to mimic human gene mutations. 

The speakers were experts in the field of Tuberous Sclerosis Complex from all over the world including our very own Dr Chris Kingswood and Professor Julian Sampson from Cardiff University. Currently a team from Cardiff are working on drug combinations to not only shrink the TSC tumours but to kill them. Julian Sampson thinks that continuing to develop new drug therapies for TSC will have more success for TSC than perhaps gene therapy. 

This was not a scientific conference but a conference for families, to give them knowledge, to inspire them and to develop links and unity across the world, -the future is bright.

Clare, Annemarie and myself will be working to disseminate the main points from the conference on the TSA’s website for the TSC community to include therapies for epilepsy, kidney and lung involvement and reproductive options.

I think this world TSC conference was very successful and achieved the aims of knowledge, inspiration and unity. The programme and organisation was stunning and the conference went without a hitch!  TSAlliance staff were always on hand to support and help out.

Thank you to the TSA for funding my attendance at this world TSC conference, a once in a life time experience.

Carole Hagan

Lay member of the TSA Research Committee and East Midlands Regional Coordinator