Debra’s Story – My Birt-Hogg-Dubé Syndrome
Debra Ramsey Adams had multiple lung collapses growing up. However, no one considered BHD until an unrelated scan diagnosed her with kidney cancer. Debra shared her story below.
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 labelled 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. Around 15 years ago (it is now 2021) I was diagnosed with fibrofolliculomas on my face. A biopsy confirmed this diagnosis. However, BHD was never a red flag to this doctor. Through 2019, no skin doctor that I saw made a diagnosis based on my skin symptoms.
Spontaneous pneumothorax, fibrofolliculomas and kidney cancer are symptoms of BHD. Pulmonologists and dermatologists are the 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 issue. He ordered a brain MRI that revealed a brain tumour behind my left eye. Another MRI of my lower back revealed a kidney tumour. This led to a third MRI of my abdomen revealing tumours 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 tumour 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 tumours at this time.
I am grateful to my urologist for connecting the findings (kidney cancer, lung collapses and fibrofolliculomas) and suggesting and performing a genetic test for me.
Our journey continues but with knowledge and a plan
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.
If you think you might have BHD, it is very important that you consider getting tested. Visit our map of BHD experts to find a doctor near you. Or you can contact us directly with any questions.