Wednesday 25th

I really can’t
quite believe I am in the airport on my own. 
No airport Special Assistance (daughter!), no last minute unpacking
because of large bottles of shower gel in the hand luggage (teenage son!) or
panicky conversations about locking the back door (husband!).  Instead I am wandering around the duty-free
shops trying to find a balance between excitement of heading off to the TSC
World Conference and the growing sense of “oh my goodness what do you think you
are doing?” if I even let myself think about how far away I am going to be from
my family.

Any of you who
have attempted an airport, a family holiday, a day out or possibly even a trip
to shops with the whole family will understand how strange it felt for me to be
sitting on a plane with only myself to think about – well, myself and the three-year-old sitting next to me (with her mum on the other side).  A three-year-old who was very excited and had no
intention of sleeping for any of the 8 hour flight.  Ah well that hadn’t actually been part of my
plan…..still, nothing a set of headphones and a determined effort to catch up
on some films that do not involve Disney princesses couldn’t deal with.

And so to the
USA and more specifically Dallas, Texas. 
It is about 40 degrees and I am being called ‘maam’ and told to ‘have a
nice day’ so I certainly feel Iike I am far from home.  The hotel is massive and I can already see
signs of the conference being set up but jet-lag and the long day take over so
any exploring will have to wait.


Thursday 26th

At breakfast
when I ask for tea the waiter checks that I want ‘hot tea’ – I guess as opposed
to the iced tea that is more often drunk here (not surprising given the
heat).  Exploring the hotel I bump in to
Carole who is here also supported by a TSA bursary.  We recognise each other from our photos
shared beforehand and together with Sheila (also from the UK and who’s grand-daughter
has TSC) we start to make plans for when the conference starts.  Registration is easy and I am starting to see
more and more people who look like they are here for the conference – the
giveaway is the big name label everyone is given which says your name and where
you come from – not sure if I feel like an evacuee or Paddington Bear but it
does make it easy to know who is part of the TSC Community and to start a
conversation.  It is however testing my
knowledge of USA geography – I am ok with Florida, California, New York and
Texas but that leaves a lot of states for me to learn!


There are lots
of professionals’ meetings going on during the morning but the first session
that I can go to is a “Meet and Greet” – I choose the one for parents of
Transitioning Young Adults as my daughter is 14 so starting that process.  I meet a lovely group of parents all with
children from 13-21 and who come from all over the States, Canada and beyond.  It’s great to hear all of their stories and
it just emphasises how wide a spectrum the diagnosis TSC can cover.  I meet a lovely couple from Canada who seemed
to not stop smiling, they have 4 teenagers the youngest of whom are 15 year old
girls who are twins and both have TSC. 
They were telling me how much support they get from their wider family
and wouldn’t manage without it.  I also
meet a lady from Mumbai, India who has a 13 year old son with TSC and who
travels Cincinnati every year to go to the TSC Clinic – I will never complain
about travelling to our nearest clinic!  I
find it interesting to hear the American parents talk about accessing support
and how much of the conversation is about what their medical insurances will
pay for – it seems like a minefield and whilst I know that in the UK there can
bit a bit of a ‘postcode lottery’ to access clinics/therapies I can’t imagine
what it would be like to have to wrestle with medical insurance policies on top
of everything else and to know that if you moved to a different state the whole
system would be different. 

The Conference
Welcome and opening dinner followed – amazing to see so many people all with
TSC in common (nearly 900 attendees) and also to meet Clare from the TSA and
Liah and Katie also from the UK.  There
was also an International Attendees Social in the bar where I chat to a lovely
lady from Canada who has TSC as does her son and granddaughter.  That only leaves time to send some photos
back home – shouldn’t have sent the one of the cowboy boots in the hotel shop,
they are pink and green and the message comes back that my daughter says “yes
please to the boots”……they cost $240 so tomorrow I will send photos of some
sweets and hope they get the same response!


Friday 27th

A full on day
today and it is hard to choose which talks to go to as they all look so
interesting.  I think that between us
Carole, Clare and I are covering most of them so that we can bring as much
information home as possible.  The
welcome session is packed and couldn’t have had a better opening that the TSA’s
own Dr Chris Kingswood speaking on a personal level about what motivates him in
his TSC research.  A theme that will run
throughout the conference – the passion that the researchers have for the TSC
community as a whole and the people they meet through their research and
clinical work.  We also hear about the
2018 Update of the Consensus Clinical Guidelines for Diagnosis, Surveillance
and Treatment that will be published at the end of this year – exciting to be
at the conference where the world leaders in TSC research are meeting to agree
those guidelines.

The rest of the
day is a whirlwind as I hear experts talking about the more unusual
manifestations of TSC (teeth, bone, liver) and then after lunch go to talks on
the treatment options for SEGAs and then Skin Involvement.    Finally a session on The Path to New Drugs
for TSC – so much great research and so exciting to hear about the potential
for progress towards a cure with mTOR inhibitors.  What an exhausting day but at the end of it I
do feel positive about the future for TSC and think that if I had been
attending this conference as the parent of a baby there would be a huge amount
of hope for treatment options which simply did not exist when my daughter was
born only 14 years ago.  There really has
been so much progress in that time.  It
left me with mixed feelings as I couldn’t help but think ‘If only these
treatment options were available back when she was born’.  But they are there now and that is something
to feel positive about. 


Saturday 28th

If I thought
yesterday was busy… we don’t even get a lunch break just a packed lunch
to eat during the sessions!  Another full
on day with the first talk starting at 8.30 and a chance to hear about
preventative trials and Cannabidiol for epilepsy.  Wow – this is definitely a talk that I
recommend people access through the TS Alliance website (most of the talks are
being filmed).  These researchers are
looking at babies who have been diagnosed before birth and are then being given
regular EEGs (monitoring brain electrical activity) and then being treated with
Vigabatrin BEFORE anyone even sees a seizure. 
And they are getting impressive results in terms of how these babies go
on to develop. 

The next
session I go to is about TAND (TSC Associated Neuropsychiatric Disorders) and
one of the speakers is Petrus de Vries – if you haven’t heard him speak search
for him on YouTube – he is a great speaker and really knowledgeable about
Autism and TSC.  Part of the session is
about early intervention for Autism and the results of a trial using an
approach called JASPER (Joint Attention, Social Play, Engagement, Regulation) –
definitely worth looking into further. 
The rest of my day is spent finding out about accessing mTOR Inhibitors
outside the USA; brushing up on my understanding of the genetics of TSC;
listening to another of Petrus de Vries’ talks this time on building and
sustaining relationships.  One of the
highlights today was hearing a TSC dad tell us about their family’s
difficulties in managing and living with his son’s epilepsy and how he developed
a web-based system to track his son’s seizures which is now publically
available ( and how he has gone on to liaise with epilepsy
reseachers so that they can use anonymised data from the app for research into
epilepsy and TSC.  That was inspirational
to hear.  At another talk I hear from
another inspirational TSC mum, this time a lady from Mexico who has a son aged
4 with TSC and when she found there was no protocol for treating her son’s
status epilepticus threw herself into getting a protocol written and also  set up the Mexican TS association.  I later meet a friend of hers from Mexico who
together with her husband and three-year-old daughter have spent 15 hours on a bus
to get to this conference – and I thought my journey was long!


Sunday 29th

Last day today
– time for a session on ADHD and Behavioural Challenges which reminds me to
make sure I get hold of the latest Consensus Clinical Guidelines when I get
home.  One of the speakers makes it clear
that TAND behaviours should be screened for at every clinic visit or at least
once a year as identifying clusters of behaviours means that they can be
treated.  She also underlines the
complexity of TS when she points out that ADHD can be hard to diagnose in TSC
as you have to take into account other manifestations of TS such as learning
disability, anxiety, depression, ASD, sleep disorders, epilepsy, medications!

I don’t make
the final session as I need to pack and catch some of the people I have met to
say goodbye.  I can’t believe the
conference is over – it has been so busy with so much to take in.  I have really felt part of a wider TS
Community here and that is something I will take home.   I know that before my daughter was born the
TS Community is one that I hadn’t known existed and would never have chosen to
be part of without my daughter’s diagnosis. 
However, what I need to remember is that it is her community and it is
up to us as her parents to make sure she can access that community.  I think she would have loved to have come to
this conference and to have been in a place where she was fully accepted for
who she is and where we as a family could have looked around us and seen lots
of people like her.  I think that is what
we all want – to be with people like us and going to TS events and meeting
other TS families is what will give her that chance to feel like ‘one of us’
and not ‘one of them’.

Attending this
conference has been a fantastic opportunity for me and one for which I am
immensely grateful to the TSA.  If anyone
gets a chance in the future to do the same I would say I absolutely recommend
it and that you should seize the opportunity if it comes your way.     

My daughter was
happy with the sweets I brought home – I didn’t mention the cowboy boots again!