PC Project Patient Meeting

I've just got back today from the European Pachyonychia Congenita (PC) Support Meeting 2010 which was in Edinburgh. I've never been along to a patient support meeting like this before but it was a great experience. The PC Project has now grown from an one person's idea to a worldwide support group for patients affected by the ultra-rare skin disorder. It is a keratin disorder caused by a genetic mutation, inherited as a dominant trait.

The best parts of the meeting were undoubtedly the discussion sessions. Several talks were given which were intended to be the springboard for discussion. It got very emotional at times, particularly in the Sunday morning session, where one of the mothers read out a selection of patient experiences. It was interesting to hear about how many people had lived for many years, some of them almost their whole lives without a diagnosis for their condition. Some had to just 'got on with it' while others were misdiagnosed and poorly managed by their doctors. With a condition as rare as PC, many consultant dermatologists will never have heard of the disease or seen a patient with the condition at all in their professional lives. Patients would often find that their doctors didn't know what their disease was and had to just take the advice they were given, these were the experts after all.

The PC Project enables a bridge to be made between research and clinical practice, now commonly known as 'Translational Medical Research'. It allows the people doing the lab work to find new treatments to meet the people who they are trying to help in an informal setting, and offers the opportunity for the patients to find out first hand about new developments and treatments for their condition. Although the PC Project is small, involving only a few dozen patients in the UK, I think that this kind of model could be applied to informing people about much more common diseases. It works particularly well for PC because most doctors do not know about the disease, therefore meeting the experts is really required for patients to have an understanding of the disease.

The whole experience was very rewarding, and it was great to put a human face to the name 'PC'. It puts some of the work that I did during my BMSc into perspective and gave me the chance to meet some of the people who may one day be receiving the benefits of all of the hard work that's gone into PC up until now.