Wednesday, 21 August 2013

Delayed scan result

I was expecting to get the result of my latest scan at my oncology appointment tomorrow, however the hospital decided to move my appointment to next Thursday even though I'd asked them not to. They made this change as part of scheduling my next chemotherapy appointment so I understand how it happened but it is still frustrating. I've asked that the oncologist give me a call to tell me the results so that I don't have to wait an additional week. It's not ideal as I'd much rather get the news face to face.
Regular readers of my blog will know that I've got a rare genetic mutation that results in a massive increase in the risk of developing certain cancers. People carrying this mutation have Li-Fraumeni Syndrome (LFS). This mutation is almost certainly the primary reason why I have developed LMS at a relatively young age.
The mutation is to a gene, TP53, which is responsible for a critical mechanism inside of cells that causes cells that become damaged to self destruct. Without a functioning TP53 gene damaged cells survive and often go on to become cancerous - at least that is the accepted theory as to why people with this mutation have such a high risk of developing cancer. Very recently however a new theory has been put forward by Pan Pantziarka. Pan's theory offers an explanation as to why people with LFS are at increased risk of some specific cancers (including LMS, the cancer I have) but do not seem to be at increased risk of others. More importantly, and if correct, Pan's theory holds out the hope that there may be ways in which the risk of people with LFS developing cancer can be greatly reduced. Potentially some drugs might be able to significantly reduce the risk level. This would represent a huge step forward for those diagnosed as having LFS.
Pan's theory is currently untested, however he is to be congratulated on having come up with new and potentially highly beneficial ideas relating to this condition. I hope he gets the support needed now for his theory to be investigated further. For those interested in the detail two papers are available, one for the lay reader here and one for those wanting a more in-depth scientific explanation here.  
A few weeks ago Katie and I visited Gigrin Farm in Wales. This is a tremendous place to see and photograph red kites. The farmer feeds the kites every afternoon, sometimes the easy meal attracts well over three hundred of these magnificent and once endangered birds.

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