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