I guess my journey of involvement
with the TSA started in the same way as many people reading this: A child is diagnosed with TSC – or TS as it was then; no one you know has ever
heard of the condition; the prognosis is, at best, uncertain. Then the clinician throws you the life-line. He says that there is a group called the Tuberous
Sclerosis Association - there are other people who have now got their heads round the news that has knocked you sideways and would be happy to offer support.
So I rang the number he gave us and one of the founders of the TSA rang me back. That was 30 years ago. As a result, I joined the organisation, took out
an annual Standing Order to pay my subscription and followed the progress of the Association by reading SCAN. Over the years it became an increasingly
professional communication and told the story of us all. Little did I imagine then that this was a story in which I would one day play a small part.
Nearly twenty years later, I was approached by Janet Bower, a friend from another life, who had also been the TSA Adviser for large part of the North
of England including Yorkshire. On retirement she had become a trustee. Would I consider joining the Support Services Committee she was now chairing?
On a sunny afternoon in York, she and Chris Naylor convinced me I had something to offer and I began to get into the organisation of the TSA.
Those were the intermediate days for the Association. The TSA had moved from being a small group of passionate people who ran things from their kitchen
tables to having a small and dedicated team of professional workers, most of whom were Advisers offering the front line support in person that I had once
received over the phone. The Support Services Committee was a sort of management group which sought in various ways to provide the policy framework and
guidance that the Head of Support Services and Advisers needed. On the basis of that contribution, I received an invitation to join the Board of Trustees
and from there I was asked to become Deputy-Chair and then Chair. If ever I’m asked how I came to be Chair of the TSA, I usually reply - by continuing
to say ‘yes’!
That said, the last ten years have been a fascinating time to be at the heart of our Association. As I joined the Board the big question, initiated by
Chris Naylor and followed up by Philip Goldenberg, was whether or not we had reached the place in our organisational development where the TSA would best
be served by employing a Chief Executive. It was a good question, a good debate and a good outcome. The consensus emerged that we should to look
for a CEO who would lead the day-to-day running of the Association. We had grown to the point where all the work we were trying to do needed greater co-ordination
and there were all sorts of legal and good practice issues which needed careful attention. It was heartening to have scores of applications for the
post from which Dr Jayne Spink emerged as our first CEO. The TSA was beginning a new phase of its life. Our 2012 Membership Survey was to lead to the development
of volunteering and the establishment of regional groups.
Two years later, as I took the chair, much of the hard work of transition had been completed. I supported Jayne in her desire to have a logo that
would communicate more of who we were to the outside world. The designers offered up options and we worked with them to offer the Board a choice of ideas.
Having an ash leaf – sometimes an indicative skin de-pigmentation of the condition -as the heart of the ‘a’ was a refinement I suggested along the way.
At my first Family Day as intended chair in 2013 it became clear to me that access to medicines was going to be a key issue for us. It was one thing to
have increasing evidence that Everolimus was an effective mTOR intervention in managing the condition; it was another to get the drug licensed for use
and funded. We would need to become a campaigning organisation. It was at this stage that we were beginning to ponder what our strategic aims ought to
be for years 2015 -2020 and the campaigning theme came into its own as the Board adopted a programme based on 3 TSCs; TSCare, TSCure and TSCampaign.
TSCare hoped to extend the ways in which we offer support to families. At that stage we were looking to set up some sort of a helpline service – we are
still working on this. Our team of Advisers are based across the UK – in the four English regions, Scotland, Wales and Northern Ireland – to support
people living with TSC and their families directly when they need help and advice.
TSCure is generally used by the TSA as our umbrella term for all the research we do. We had already updated our strapline to say that the TSA looked to
offer ‘hope for today and a cure for tomorrow’ and it seemed that this was within our grasp. At the 2014 Family Day, in the light of the 70th anniversary
of D-Day, I asked Dr Chris Kingswood if our quest to find a cure for TSC was compared to the progress of the Second World War, would it be fair to say
that we had reached D-Day? Chris’s reply was both memorable and encouraging beyond all my expectations. He said that we were well beyond D-Day. We had
crossed the Rhine and were racing towards Berlin. This was my most memorable moment in the TSA. It still brings tears to my eyes.
It is a difficult balance to keep, between being excited by the prospect of a cure tomorrow and acknowledging th e great difficulties many of our members
face and need support with today. We continually wrestle too with the long time-lines associated with research and not raising expectations that we cannot
yet deliver. We may not have been able to offer a cure to our founder generation’s children or grand-children but there is every hope that we may have
‘reached Berlin’ in time to transform the outlook of their great-grand-children.
If a cure for TSC is defined as stopping its adverse effects, then this is almost within our grasp. Current treatments (the mTOR inhibitors
Everolimus and Sirolimus, and early control of infantile spasms with Vigabatrin) are already beginning to show great benefit, and a low risk of serious
harm in the very young. We need drug studies to show us exactly what the benefit/risk ratio is before recommending their routine use for infants and children
when they are first diagnosed. However, it is likely that many of the worst problems caused by TSC could be prevented in this way. International
TSCure, the international early-intervention programme supported by the TSA, is being designed to trial giving Everolimus at diagnosis, itself made so
much easier by the genetic research work that identified the gene mutations TSC1 and TSC2.
TSCampaign, which had been brilliantly led by Jayne Spink who understood how NICE and NHSE worked, and dynamically supported by Emma Damian-Grint and
our social media communications has delivered real success. Our #fight4treatment, has delivered access to Everolimus for SEGA and AML. We are currently
working on securing access to Everolimus for epilepsy and Louise Fish, our CEO appointed to succeed Jayne, has submitted a compelling case to NICE.
The arrival of Louise confirms the wisdom of the decision to let the TSA develop into a CEO-led organisation. She has been able to pick up a set of structures
and team of people who have direction and purpose. She is also able to review our strategic plan and re-focus it in the light of our progress to date.
It looks as if the great progress we have made with TSCure and TSCampaign will enable a greater focus on delivering TSCare in the years leading up to 2020.
Our 2016 Membership Survey has highlighted the need of many in our community for emotional support. This is a need we are now urgently looking to address.
All in all, I have had the privilege of being Chair of the TSA at a most exciting time in its 40 year history. It has been a time when we have had
the resources and organisation to make bold strides in taking the Association forward. More exciting times lie ahead. Recent advances in genomics
will soon help us work out why some of our community are more seriously affected than others. The recent developments in gene editing offer the prospect
of repairing the cause of the TSC at source rather than medicating the consequences of the mutations. So whilst I am sure there will be plenty of challenges
ahead, I am convinced that we are well placed to take them on and look forward to supporting my successors in doing so. We will be even better placed if
you have gifts and skills to offer and are prepared to say ‘yes’ too.