BHD is extremely rare; there have only been roughly 500 families reported worldwide. Furthermore, there are estimated to be between 6000 to 8000 rare diseases. Therefore, it’s not surprising that many doctors will not have heard of BHD, and that experts are few and far between.
However, so long as your doctor is willing to learn about BHD, there is no reason your health should be put at risk if you can’t find a doctor who already has specialist knowledge.
To help you educate your doctor, we have written and compiled some documents that might be useful for you to print off and give to them.
Firstly, we have written a Clinical Introduction leaflet, which is a 1 page summary about BHD, and suggests further reading.
There are also three clinical recommendations papers listed below. These were all written by clinicians and researchers who are BHD experts, and provide an excellent introduction for doctors who are new to BHD. For each paper, there is a link to the original paper, and a link to a lay summary that we have written.
Publication date: December 2014
Review date: December 2017