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 .

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