We have heard from several people who have had clinical diagnoses of Birt-Hogg-Dubé syndrome on the basis of their matching symptoms. Many were diagnosed before the cause of BHD syndrome was recognised. Now that the BHD gene has been identified, these people can go back and be tested for known BHD mutations. As of 2011, there are approximately 91 disease-causing mutations in the BHD gene.
However, what do people do when they have no identifiable BHD mutation – but still have all the symptoms? How does this diagnosis affect their lives?
Lost and looking for answers- Barbara in Manitoba, Canada:
First off, I have been living with the title of “Birt-Hogg-Dubé syndrome” for 14 years. Two kidney cancer surgeries and now a 3rd diagnosis of kidney cancer. Clinically, I am confirmed as “Birt-Hogg-Dubé” but molecularly the blood results from Bethesda came back NEGATIVE. So, the question is WHAT AM I?
The balance of my history is as follows:
- Researched via imaging CT scans and MRI’s for possible Multiple Myeloma in 2006-2007. Result: No confirmation of Multiple Myeloma. No cancer is present at this time. Follow up’s in 6 months via CT scan and then in 1 year if all goes well.
- Cystic breasts with lumpectomies performed over the last few years. All of them benign except for one which showed a tiny, tiny, microscopic invasion outside the duct. Hence, I am listed as having had breast cancer. No treatment was ever received. A radical mastectomy was recommended. My surgeon at that time and myself agreed for the amount there was present we would not do surgery. This was almost 10 years ago.
- Lupus or acute thrombocytopenia and anti-phospholipid syndrome and osteoporosis. Degenerative disc disease in my neck.
- Small mass the size of a dime is in my neck between C5 and C6. This cannot be removed as the location of same with surgical removal will cause paralysis. This was discovered 1 1/2 years ago.
Molecularly the result [for BHD syndrome] is negative. I have gone back as far as I can to trace the genetic carrier and have come to the conclusion the carrier was my Mother, as she and I were both diagnosed with kidney cancer the same year.