Dear Mr Javid,
As today is "Rare Disease Day" I thought it would be opportune to write and ask for your support.
Thirty eight years ago my daughter Georgina was diagnosed with Tuberous Sclerosis (TSC) at the age of 18 months. She was suffering from delayed development and epileptic seizures. As worried parents we were pleased to be given a diagnosis (which was quite an achievement in those days as we were to discover) but when I asked the consultant - what is the treatment - none and is theatre any research going on - no, we were devastated. TSC can effect almost any organ and frequently results in epilepsy and severe learning disabilities.
About two weeks later we learnt of a parent support group that had just been started and immediately joined it. It was a great help to gain the support of other parents. We threw ourselves into fund raising and the Tuberous Sclerosis Association grew rapidly. Its inspirational Co-Chairman Ann Hunt was awarded an MBE for her efforts many years later.
We supported parents with information (pre-internet). I acquired a printing machine and for years churned out magazines and fact sheets and my late wife Janet eventually became the full-time secretary/ support services co-ordinator. As well as parent support we funded key research projects, specialist Clinics within the NHS and an international alliance of Tuberous Sclerosis Associations.
We organised the first international medical conference on Tuberous Sclerosis at Nottingham University in the late 80's where a young graduate student spoke on a research project that he was working on. Now Professor Julian Samson at Cardiff University he was part of an international collaboration that discovered the first Gene that caused TSC.
Gathering momentum in research has led to the discovery of a drug that reverses some of the worst effects of the disease (particularly relating to kidney and brain tumours - Georgina had a kidney transplant several years ago).
At a recent conference one doctor was asked where we were in the research and he said "if you liken it to the second world war we are over the Rhine and racing for Berlin".
With this history you can understand my dismay to learn that in spite of the amazing progress in 38 years and the discovery of a drug that is being talked of in "cure" terms that we have hit the wall of NHS funding. Talk about the "Battle of the Bulge"!
Whilst some trials have been undertaken on special funding arrangements it is not generally available to TSC suffers. What makes it particularly galling is that it is being funded by many countries that had no input to the research. In the UK, Wales is funding it and in Scotland there is a fund for treatments for "rare diseases", so both better than England.
NHS England has promised a decision on funding by the end of the financial year and I would ask for your support in pressing for a positive decision.
Whilst this treatment is not likely to be appropriate for Georgina it seems unbelievable that such a dramatic advance should be blocked in the country that has done so much to bring about its discovery and development. At present the answer to my question to the consultant 38 years ago as to whether treatment was available would be almost the same - NO - but with the caveat that there would be if you lived in the right country!
I really hope that you can use your good offices to ensure the correct decision is made now. This is not going to go away!!