Wednesday 24 April 2013

George - Second Anniversary

One of the many doctors who treated George described him as a miracle child. And it was true. He had survived a rhabdomyosarcoma diagnosed at two and which was aggressively treated for about a year, followed by a few months in remission. When the disease recurred it was treated hard again but the last scan showed there was still evidence of disease. With no options left on the table we were sent home to prepare for the worst. George was just four years old. We refused to accept the news, and he was just a kid who wanted to play. And play he did, for the next eleven years. He really was a miracle child. But when he was fifteen he was diagnosed first with a basal cell carcinoma and then, a little later, with osteosarcoma. For us the miracle ended two years ago, when the osteosarcoma finally defeated our wonderful, lovely child, after the hard years of battle.

On this second anniversary it’s time to take stock of where we are with the Trust formed in his name. One of the things we wanted to focus when we started was on encouraging more research in Li Fraumeni Syndrome. We never imagined that we would be responsible for some of that research, but that is precisely what has happened. Over the last year I have developed a new theory about cancer initiation in LFS, one that is subtly different from the mainstream view. The first test of a new theory is to see if it can stand the peer review process and be published in a reputable peer-reviewed scientific journal. I am happy to report that the paper ‘Li Fraumeni Syndrome, cancer and senescence: a new hypothesis’ has been published in the journal ‘Cancer Cell International’. There will be more to say in the coming weeks and months about this paper, but for now it’s available for download at the journal’s website.

In addition there has been progress on one of our other major objectives, which is to create the world’s first LFS patient registry. This will be a database about the patients, not about the detailed analysis of their gene mutations. I am happy to report that we have been approached by an international consortium of LFS doctors and researchers who are keen to work with us to make this happen. Again, more details will be published in the coming weeks as we work to make this a reality.

Some things haven’t been so successful. Our website gets a lot of traffic, but the forum is little used. We could do with some more input. If anyone has ideas on how we can make this work better then please post a message here or on the forum. We want it to be a useful resource for people with LFS, but it needs more input if that’s going to happen.

We will also be announcing details of our online fund-raising page soon, which means we can raise a bit more money to do more of the things that will make things change for the better. None of these things will lessen the pain or make us miss George any the less. He is constantly in our thoughts and the ache of being without him is hard to take at times. But making the Trust a success is our way of remembering him is a positive way, and, we hope, a way of lightening the load for other people traveling the same journey that we have.

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