UK Annual Meeting

Peter Richardson opened the day giving some insight into his life as a neurosurgeon and the issues he faces in his work. He delicately managed to discuss some of the factors around those critical operations, with which many in the group will be familiar, in an entertaining, light hearted and informative way.

Dr. Richardson talked about the “balance of decisions” he deals with every day, evaluating when to operate and balancing ‘benefits versus risk’. The aim of surgery he saw as to control the disease, not to cure it. He described his job as ‘plumbing’ – although, as members saw it, of a very skilled nature.

Eamonn Maher, spoke about the state of genetic research on VHL. Since the finding of the VHL gene in 1993, the genetic implications and the understanding of VHL has accelerated. Identification of the gene has led to diagnostic testing, facilitating earlier screening and treatment, and thus an enhanced prognosis. Pre-natal screening is also an option. Progress has been made toward drug treatment, hoping to slow the development and growth of VHL tumors.

The moving and inspiring contribution given by Dora and Andy Beeforth is also on the website under ‘Articles.

Gillian Crawford presented the outcome of her qualitative survey into how the diagnosis of VHL has affected patients’ lives. It touched on the psychological impact of clinical monitoring and was welcomed by patients as an insight into how the diagnosis had affected their lives.

For her study Gillian Crawford had identified fourteen people of whom ten had responded. The material came from structured interviews, which were taped and transcribed. These revealed how ‘not knowing’ is a worry and the extent to which a diagnosis brings a ‘certainty’ and gives the condition a ‘legitimacy’.

All the participants were actively employed. The diagnosis though raised other ‘uncertainties’ about the future in this context. It brought about a change in the view of an employer – ‘my illness defines me in the eyes of others’. It becomes a threat to my self-esteem. No financial issues were raised.

The four participants who had children were having to consider the issue of sharing their knowledge with their offspring.

This research will be reported in more detail at the Symposium in October.

As printed in the VHL Family Forum 14:2, August/September 2006. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org