A conversation with her cousin may have saved her life. It had been years since Debbie Grenier of Conway, South Carolina, had spoken to her relative, but when she did, she learned something that lit a lightbulb.
“I found out that she has Birt-Hogg-Dubé (BHD) syndrome,” Grenier said. “It manifests in three ways – you can have a spontaneous lung collapse; You can get small bumps on your skin, or you can get tumors on your kidney. And it touched me because when I was 25 I had a spontaneous collapsed lung and they couldn’t figure out why.”
Now, more than 40 years later, Grenier thought she might finally have an answer. BHD is a rare condition caused by mutations in the folliculin gene, which makes a protein that can help control cell growth and other important cell functions. Mutated forms of this gene can encourage the growth of abnormal cells. Only one in about 200,000 people is affected. Grenier had herself tested by Gurpur Shashidhar Pai, MD, director of the Department of Genetics at MUSC, and found it was her.
“The test came back positive and I was like, ‘Oh my God,'” Grenier recalls. “That’s why they do preventative CT scans of my lungs once a year, because what happens is you get little sacs or blisters on your lungs, and they can just suddenly burst for no particular reason.”
Debbie Grenier relaxing on her porch just a month after surgery. Photo provided
These blisters, to which Grenier refers, are air-filled cysts that appear on the surface of the lungs and can rupture, resulting in spontaneous lung collapse. People with BHD also have an approximately 25% to 35% increased risk of renal cell carcinoma.
Three years ago, during one of her checkups, doctors discovered a small nodule on her lung, only about an inch in size, and began keeping an eye on it. In November 2022, they found that the knot had doubled in size in just eight months.
“For me, it’s still only 2 centimeters. That’s tiny. Why are they worried about that,” Grenier recalled.
Doctors sent her for a PET scan to see if she had cancer, and the scans were unremarkable. To be on the safe side, Grenier’s pulmonologist decided to do a lung biopsy.
“And the biopsy revealed that I have an adenocarcinoma in situ,” Grenier said, referring to a condition in which abnormal cells are found in the glandular tissue that lines internal organs and produces substances like mucus and digestive fluids in the body. Carcinoma in situ is the earliest form of cancer or stage 0.
“Everything went so fast. November was the scan. They did the biopsy in December. And then I met Ian Bostock, MD,” Grenier said. Bostock, a cardiothoracic surgeon, treats patients with lung or esophageal cancer, mesothelioma, and chest wall tumors at MUSC Hollings Cancer Center. “He recommended robotic surgery to remove the lump and gave me an operation date in early January.”
Robotic surgery was what really impressed Grenier. When she had a spontaneous collapsed lung and two unsuccessful chest drains at the age of 25, she had to have an operation. Grenier recalled how they had to remove the upper and lower lobes of her right lung and then scrape the surface of the lung to attach it to the chest wall. It took her three months to recover from that surgery — all the while taking Valium.
“That time was very blurry,” Grenier recalled. “It also involved breaking two ribs and a scar that runs down my back and under my armpit to my chest.”
“Such a huge difference from 45 years ago. I was told that I would be in the hospital for three to four days after the operation, when in fact I was only discharged 28 hours after the operation. Craziness!”
Debbie Grenier
So Grenier was thrilled to learn that Bostock planned to perform her surgery robotically with just four small puncture holes.
“I have a computer background, so that really appealed to me. I was really looking forward to it.”
Grenier was operated on on a Monday at 2 p.m. Later that day she got up and walked around. On Tuesday at 5 p.m. she was on her way home.
“Such a huge difference from 45 years ago,” she said. “I was told I would be in the hospital for three to four days after the operation, when in fact I was only discharged 28 hours after the operation. Perplexed!”
A day after arriving home, Grenier stopped taking prescription painkillers and relied on Tylenol with ease. A month later she was back at her favorite pastime – swimming.
During her surgery, Bostock removed the tumor and 12 lymph nodes to make sure it hadn’t spread. All came back clear. Grenier is now considered cancer-free, and her only follow-up consists of CT scans every six months for two years, and then once a year until she crosses the five-year mark.
“I’m like a ‘before and after’ of what 45 years of technology can achieve,” Grenier smiled. “One lung – big scar and broken ribs, the other lung – four small holes and walking around in the same day! I still find it amazing that I got up and walked around just a few hours after the robotic surgery. Such a wonderful experience. I couldn’t have asked for more!”
