On 11th March 2010 I was seen by Dr Derek Lim, a specialist in genetics from the Birmingham Clinical Genetics Unit and he took blood samples for my genetic testing. This morning he telephoned me to confirm that I do have BHD. To be honest I was expecting this to be the case, I am just glad that I found out so that I can have regular screening. I will now have my first scans to check that all is OK.

This website is very helpful, particularly with the advice on telling your family about BHD, it was also the website that I initially looked at when I was trying to find out what the lesions on my face were and saw the photographs on here, so thank you for that.