Hello everyone,

My name is Drew. I am just about to turn 50 and I was diagnosed with BHD about four years ago. I’d gone in to the dermatologist to have a mole removed and he noticed a bunch of white bumps on the skin of my neck and face. Out of the blue, he asked if I’d ever suffered from a collapsed lung. I was a bit amazed and replied that yes, I’d had three episodes of collapsed lungs–my right one collapsed twice, when I was 22 and 27 years old, and my left one collapsed when I was 37. He then stated that he thought I had BHD, a condition he had recently seen some research on. He also stated that I should have an ultrasound to see if my kidneys had any tumors.

As luck would have it, my left kidney did indeed show a large mass. At first, the doctor merely kept an eye on it but over time, it gradually became more complex. In December of 2008, I had the entire kidney removed because the tumor had become so intertwined with it. So now I’m down to one kidney.

 The number of white bumps on my skin has also increased over time. At first, I assumed they were the result of sun damage, as I was outside a lot growing up on a farm. But now I know what they really are.

My maternal grandfather died of cancer at the age of 66. He, too, had the white bumps on his skin but no one had heard of BHD back in the 1960s and early 1970s when he was undergoing treatment. My mother (his daughter), also had several bouts with collapsing lungs over the years and now she is 78 years old–and recently had her breast removed for cancer (may not be related to BHD). Neither of her two siblings show any signs of BHD, nor does my 58-year-old brother.

Anyway, I’m happy to see the forum is going.

Happy Fathers Day to all of you who are dads. My wife and I have a 14-year-old who’s adopted, so I certainly hope she doesn’t have any BHD in her background!

Drew

Hi.  I thought I’d post here with my family’s experiences of BHD.

At least a dozen of my (paternal) family have recently been diagnosed with BHD.  My paternal grandfather had problems with collapsed lungs back in the 1950s.  Then 4 of his 5 sons had the same problems as they went through their 20s, 30s and 40s.  Then in my generation several of the grandsons, including me, have had the same problems with collapsed lungs.

In the end we were diagnosed with BHD by two separate medical professionals in 2007.  Now each of us in the family has had the genetic tests and we now know about BHD and which of us has it.  Prior to then the doctors who’d treated us in hospital had thought it was weird we had this family disposition to pneumothoraxes, but didn’t connect it to anything.  Interestingly enough, only the men in our family have had pneumothoraxes, while the women who’ve now been confirmed with BHD have had no symptoms so far.

We’d always known that as a family we had a problem with pneumothoraxes, but didn’t know to look for kidney cancers until the BHD diagnosis.  Since then most of us have had CAT scans, and 3 of my father’s brothers (aged from mid-50s to mid-60s) have been found to have renal cancers.

Given the odds I suspect we are the only family in New Zealand with BHD.  We have heard that there may be a few families with BHD in Australia (one in Queensland?) but we don’t know any details.

Today, the next generation of our family is between 10 and 1 years old.  We don’t know which of them may have BHD yet, but the odds are that a significant number of them will do.  So, like all parents, we’re very keen to hear about any developments in diagnosis and treatment.

I would be happy to hear from any others with BHD, and happy to contribute more on this site.  Please feel free to contact me at mark_donnell@hotmail.com .