Monday 30 January 2012

Li Fraumeni Syndrome - New Surveillance Protocol

Many people who have Li Fraumeni Syndrome (LFS) or other TP53 abnormality are often diagnosed when they are suffering cancer - sometimes for the second or third time, as happened with our son George. They are in the thick of cancer treatment and are focused on the immediate problems at hand. However, for people who are not suffering from cancer, a diagnosis of LFS or other TP53 abnormality is likely to be a huge shock. All of a sudden the future becomes uncertain and frightening. The stress is immense.

The answer to the obvious question of 'what happens now?', is most often a variation on 'wait and see'. Currently, in the UK at least, the key thing is to put in place a system in which any LFS patient gets high priority should symptoms crop up. No waiting around for appointments for investigations, no hanging around while one doctor after another mulls things over.

However, a team of doctors in Canada and the United States have trialled a more active program of clinical surveillance. This program consists of regular blood tests and scans, trying to catch things before they become symptomatic. This is a major step forward for LFS patients.

I have written about it on the George Pantziarka TP53 Trust website here:

It's required reading for anyone interested in TP53 and Li Fraumeni Syndrome. If you are a sufferer it's something you really need to know about, and, just as importantly, it's something that your doctors need to know about too.

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