Birt-Hogg-Dubé syndrome also called BHD is a rare genetic condition that may cause skin bumps, lung cysts, collapsed lungs and kidney cancer. Most people with BHD live normal lives. However, we know that being diagnosed with a rare condition can feel lonely and it can be hard to find information about it.
At the BHD Foundation, we provide advice on being diagnosed and living with BHD. Find out about the symptoms, hear from other people with BHD and take part in our events. You can also help us raise awareness of BHD. Together we can inform, empower, and connect the BHD community worldwide.
In this blog, Roxana shares her experience of attending our recent symposium. As someone living with BHD, she hoped to share her story, along with the barriers and challenges she faced throughout her journey.
Jenny Marlé-Ballangé received a grant from the BHD Foundation to attend a Health Democracy training course. Jenny tells us more about the work she has done and the advice she would give to other patient advocates.
BHD International Registry
We want to reach a stage where there are treatments and eventually a cure for BHD. We believe that the BIRT registry is the first step to reaching that goal.
People with BHD are at risk of developing kidney cancer. To develop new drugs to treat BHD kidney cancer, we need to understand how FLCN (the specific gene mutated in BHD) affects the kidneys.
In this blog, we look at two cases of BHD. One focuses on colon cancer and the other on being diagnosed with both congenital contractural arachnodactyly (CCA) and BHD.