BHD affects skin, lungs and kidneys, so it is important to find a skin specialist (dermatologist), lung specialist (pulmonologist), and kidney specialist (urologist) who can give you the correct advice for each symptom. It is also advisable to talk to a clinical geneticist or a genetic counselor who will be able to discuss any issues caused by having a genetic disease, and find out who else in your family might also have BHD. Your usual doctor should be able to help you put together this team of specialists.
Alternatively, if you find a doctor that is very knowledgeable about BHD, or if you have access to a treatment programme like the one at the National Institutes for Health in the USA, you may only need to see one doctor.
Although it is preferable to find specialists with expertise of treating BHD, experts are few and far between because BHD is so rare. We have designed a range of information pamphlets, a clinical introduction leaflet, and a medical education kit, all of which you can print off to give to your doctors.
So long as your doctor is willing to learn about BHD with you, there is no reason your health should be put at risk if you can’t find a doctor who already has specialist knowledge of BHD. But if you would like to find out where your nearest specialist is, please have a look at our interactive map of specialised centres or email us at contact@BHDSyndrome.org.
Publication date: December 2014
Review date: May 2021