I am 34, a stay at home, homeschooling mom to 3 small kids and Air Force wife.
My dad has had 3 lung surgeries and we knew that he had “blebs” in his lungs. However at age 33 my lung also collapsed. After a chest tube, then another collapse, I had the VATs with mechanical and talc pleurodesis. Since then I found the information about BHD and was tested…it was positive. No one else in my family has been officially diagnosed (my dad’s doctor blew it off as a skin disease only), but my uncle also has had a lung collapse and VATs and has the tell-tale bumps on his face. My diagnosis showed it to be on one copy of chromosome 17 rather than on both…my understanding is that when it is on both copies you are more likely to develop kidney tumors. I don’t believe there is any family history of kidney problems.
Hi and thanks for getting in touch.
I’d like to address a few of the issues you raised but I’d like to point out that I’m not a Medical Professional.
With regards to your diagnosis, the majority of individuals with BHD have one mutated copy of the gene, as you do. This is in no way an indicator of what symptoms you will get – it is unlcear why some people with BHD develop kidney problems and why some don’t. Current research indicates that approximately 34% of BHD patients develop kidney tumours and the best thing to do if your concerned about this is to talk it over with your doctor.
I hope this has helped.
Thanks! I am getting kidney ultrasounds once/year just to be sure. For this reason I hope my family members who have had lung issues will get tested, so that their docs will be checking their kidneys regularly too!