I'm writing because my husband's family has BHD.
BHD has changed our lives, but it hasn't disrupted our plans - just maybe made us think more about how we make choices and how we want to live our lives. People with BHD generally live a long time.They have found 80 & 90 year old people with BHD who had large kidney tumors and didn't even know it- they felt great. The majority of kidney cancers caused by BHD are slow growing and never spread outside the kidney.
So far there are 11 identified members in our immediate family who have BHD. (Everyone had the gene test). My husband, brother-in-law, mother-in-law & nephew all have kidney cancer due to BHD. My niece has a spot on her kidney. The other 6, including my 2 children, have BHD, but no kidney symptoms have been found to date. Almost all have the skin bumps - fibrofolliculomas. A cousin (she would be #12) has had a collapsed lung.
Everyone in our family has been able to go on with their plans, their vacations, their dreams, their jobs. We wouldn't have chosen to have BHD in the family, but we decided it isn't going to stop us. The idea is to manage your BHD so you can get on with the things you want to do.
(Most BHD kidney cancer can be managed , too.) The first reactions we had were fear, anger, disbelief - then probably fear again - but now we have learned to live with it. It's a shock to be sure when you first find out, and it takes time to work out all the feelings. It's hard to believe that you get used to it, but you do.
My mother-in-law retired from her part time job at age 75 to take care of my father-in-law, who is actually ill. They had to cut back on travel due to his disease, not hers. She had a kidney removed when she was 69, and has tumors growing in her other kidney.
The gene test is, I think, really important. In our family, BHD comes from my mother-in-law's side of the family. Each of her children had a 50% chance of having BHD. Without the gene test, we would not know who needs to be followed & scanned. Not everyone with BHD gets kidney cancer, but so far we don't have any way to know who will and who won't. (Many families never even get the cancer.).
Symptoms vary a lot. In our family one person has too many fibrofolliculomas to count, another has 5 and you have to look really hard to see them.
Since BHD does put you at risk for kidney cancer, regular scans for the rest of your life are vital. CT scans and MRIs are the only reliable ways to find BHD kidney tumors and cysts. Ultrasound does not work for BHD tumors- it can miss them. If you know you do not have BHD, you do not need any kidney scans at all. So it's important to know for sure - and having the gene test is the only way to know.
In our family, kidney cancer was found in my nephew at age 31. My niece, 29, has a spot on one kidney - it's too little to know what it is yet. People who have BHD should have kidney scans approx. every 2 years, starting at about age 21. BHD kidney cancer has been found in people in their 20's. The typical BHD kidney cancer is slow growing, so my nephew's tumor probably started to grow when he was in his 20's. The scan/MRI should show the abdomen and lungs. Normally you would not get x-rays on a regular basis. You should have blood and urine tests as well. If you ever develop cancer, the tests you need may change according to the treatment you may need.
Having BHD does mean you should probably not scuba dive, or fly in small unpressurized planes, or do mountain climbing. It could be hard on the lungs, and a really large percentage of people with BHD have the tiny benign lung cysts that could cause a lung collapse. They are hardly ever serious if you do get them due to BHD.
There are a lot of doctors who don't know about BHD, or who may have outdated information.
When we first heard about BHD, we couldn't find much information. That's when we decided to start the Birt Hogg Dube Family Alliance. We wanted to help people who were in our situation. We've had lots of glitches , especially technical ones, in getting an organization started, but hopefully we are working through the final stages of that.