I'm planning on putting myself through the 26 miles of hell for a member of our family, this is Tommy's Story, written by his mum, Emma.
'My name is Emma Salisbury and in 2005 my then 4 year old son Tommy was diagnosed with a rare eye condition called Choroideremia. My grandad had this condition and I only every remember him blind which normally happens mid 30’s to early 40’s. After getting over the devastating news I decided that I could just not let this happen to Tommy and started my fight in finding a cure or treatment. I set up the Tommy Salisbury Fund within the charity Fight for Sight and started to fundraise. I found out that research into the condition was currently taking place at The Imperial College in London and we began to support their studies.
We are now 10 years on and the fund has given £450,000 to research and what an amazing journey it has been. Full of tears, laughter, fun, hard work but most of all success. After supporting Professor Miguel Seabra and his team at Imperial College, the good news came, in 2011 they had found a treatment that they believed would halt the progression and stop the condition from continuing to deteriorate. This was mainly due to our money that we had given to them over the years. As they are scientists and work in laboratories they needed to find a surgeon to carry out this procedure on people. Professor Robert MacLaren from John Radcliffe Eye Hospital in Oxford came on board in 2009 to start the clinical trial for the treatment of Choroideremia. This was the first worldwide trial ever for Choroideremia and the Tommy Salisbury Fund had helped make this happen. The first patient had the operation on 11 October 2011 in one eye and it all went to plan, final results would be two years down the line as they watched for the treated eye to remain stable and the untreated eye to continue to deteriorate. Professor MacLaren released a statement “This clinical trial marks a major step in developing gene therapy treatments for retinal diseases. It would not have been possible without the scientific funding provided by Fight for Sight through the Tommy Salisbury Choroideremia Fund. In my opinion, this is the single most significant factor that has enabled us to lead the world in starting the first clinical trial for this disease. We shouldn’t under-estimate the power that individuals can have in influencing the course of research through their fundraising activities.”
Following this the clinical trial continued with 11 more men taking part. It has now been two years for over half of these brave men and every one of them has not only showed the progression has stopped but there has also been a slight improvement in the treated eye. With Phase I behind us Phase II is about to start. This will be 24 men and will be carried out in 6 different hospitals around the world all headed by Professor MacLaren. Once Phase II is complete and the results are in it will be time to apply to the department of health to get this treatment approved and become available for Tommy and all the other Choroideremia sufferers. It sounds easy but there is still a lot of work to do.
The Wellcome Trust has awarded £18 million pounds to set up a company called NightstaRx a clinical-stage company developing genetic cells for retinal diseases. This company will produce the cells for the operation, work out the dosage depending on age, how much damage etc. Our clinical trial is their first project, they will continue to develop treatments for other diseases after.
In order for this to be passed without any problems any risk during the operation needs to be reduced. This is where the Tommy Salisbury Fund is needed to help. Professor MacLaren needs to purchase a state of the art microscope. This will enable him to see a 360◦ 3D image of the eye, he will be able to see every cut that is made and also watch the cells being injected into the eye in real time. This will reduce the risks massively and therefore paramount in getting this passed. We have so far donated £25,000 for this project with hopefully a similar amount available by the end of the year from our fund. It total the cost of this microscope is £190,000 other sources of finance have been applied for by Prof. MacLaren.
We will also still continue to support Imperial College and the team looking at Choroideremia, they are working on various studies looking at the carriers as well as the sufferers.
It has been truly amazing to be involved in something that seemed only a miracle or a dream 10 years ago. Even when I type something like this it all still feels too good to be true. However, we are still not there yet and the Tommy Salisbury Fund is working harder than ever to make this a reality and save any sight left for our Choroideremia boys.
Of course I would rather that I was never in this situation but our journey has enabled us to do things that a normal everyday family like us didn’t even know about before. We’ve met the most amazing talented people who have dedicated their lives into finding a treatment for others, I carried the Olympic Torch, went to the Paralympics Opening Ceremony, been to Buckingham Palace, Downing Street and I am currently Tesco Mum of the Year. We have all pushed ourselves and done things out of our comfort zones especially the kids who have done mud runs, triathlons, Yorkshire Three Peaks and lots more but mostly we have learnt that with hard work, kindness, generosity and working as a team you can achieve and really make a difference.
If you would like any further information please contact me.
Thank you for taking the time to read this letter.