Debra Ramsey Adams shares her experience being diagnosed and living with Birt-Hogg-Dubé Syndrome (BHD). The account discusses the challenges of being diagnosed correctly with a rare condition and how an incidental finding when being investigated for dizziness led to the diagnosis.
Please note that the only cancer shown to be associated with BHD is renal cancer. The other cancers in this account illustrate the complex medical history but are not indicative of any link to BHD.
My Birt-Hogg-Dubé Syndrome by Debra Ramsey Adams.
My story began in 1978*, at the age of 27, with a left spontaneous pneumothorax (lung collapse) and again in 1979 with a right lung collapse. Two different surgeons labeled my condition as a “birth defect”. In 1981 my left lung collapsed again, requiring major surgery by scraping blebs or lung cysts off the lung. In 1991 my right lung collapsed again requiring the same procedure.
My history with a dermatologist has not been going well either. Approximately 15 years ago (it is now 2021) I was diagnosed with fibrofolliculomas on my face (biopsy confirmed this diagnosis). However, BHD was never a red flag to this physician. Through 2019, no dermatologist that I have seen had further diagnosis referring to the fibrofolliculomas.
Spontaneous pneumothorax, fibrofolliculomas and bi-lateral kidney cancer are cardinal manifestations of BHD. However, pulmonologist and dermatologist are specialists most likely to see a BHD patient first. A urologist like a pulmonologist commonly would get called in when a problem has been found and requires immediate attention.
In mid 2019 I consulted with my neurologist about a balance issues**. He ordered a brain MRI that revealed a brain tumor behind my left eye. Another MRI of my lower back revealed a kidney tumor. This led to a third MRI of my abdomen revealing tumors on both kidneys and my pancreas. In December of 2019 & September of 2020 my urologist performed bilateral laparoscopic cryosurgery on each kidney. The pathologist confirmed bilateral kidney cancer. The brain tumor was calcified, considered old and is under annual observation. The spot on my pancreas was a benign pseudocyst. My continued kidney screens are good, revealing no new tumors at this time.
I am grateful to my urologist for connecting the findings (kidney cancer, pneumothoraces and fibrofolliculomas) and suggesting and performing a genetic test for me.
There is more to my story and I will now have a lifetime of screenings performed to be proactive about this rare syndrome. My family members are being tested at this time. Currently, my sister, one niece, and two of my children have also tested positive. Our journey continues, but with knowledge and a plan. With all of our different ages, we will continue to learn together as a family.
* Birt-Hogg-Dubé syndrome was first described in 1977.
** Past Medical and Family History: I have had thyroid nodules removed and papillomatous tumour removed from my left breast. My sister has continued treatment for parathyroid issues.