After a year of dating, Jane Gunther’s boyfriend reveals that his family has a rare disease.
Story Transcript
In 2007, Bruce and I met through an outdoor club and clicked immediately. We were the strong hikers, always looking for the next adventure. Bruce, being a car enthusiast, was also intrigued that I wanted to buy a Westfalia camper van to explore California. He volunteered to help me shop for one, even traveling near and far with me to inspect several vans until I settled on the right one.
About eight months after I bought it, Bruce held up a toothbrush and asked almost shyly, “Can I keep my toothbrush in your Westy?” That was when I knew we had moved past being friends. That question said everything to me about where we were headed.
I worked in drug development, my head crowded with data and deadlines, and the Westy was my escape to recharge. It took me to trailheads, ski slopes, anywhere I could be out in nature. Letting Bruce's toothbrush live there felt like letting him into that part of me as well. I had joined the club to find people to share the outdoors with, but with Bruce, I found my adventure partner.
Together, we climbed Mt. Shasta and Half Dome, ski Tahoe, and once woke up in the Westy surrounded by a majestic herd of tule elk. The peacefulness of our backpacking lunches laid out in the granite slabs of Tahoe was as much a part of our joy as carving turns through fresh powder. Just the two of us high in the mountains was a deep exhale from the long hours I poured into my work. Being out on adventures in nature together was where we felt most alive and was our shared love language.
We were together for about a year when Bruce and I were stretched out on a couch on a warm summer morning, the windows open, a soft breeze drifting through. It was one of those rare moments where my whole body felt completely relaxed. That's when Bruce turned to me and said, “My family has a rare disease.”
My blood ran cold. Then, like a switch flipping back on, my brain restarted and grabbed onto the only hopeful thought it could come up with, and that was, “Genetic diseases are recessive.” I asked but Bruce shook his head no.
“No,” he said. “It's dominant, and I've inherited the mutation.”
CADASIL is a rare genetic disease that damages the small blood vessels in the brain. It can cause migraines with aura, strokes, gradual physical and cognitive decline. There's no treatment, no cure.
And then nothing happened because Bruce, he was active and, honestly, healthier than most people in their 40s. Over the next couple of years, it became surprisingly easy to forget about the disease, and I felt no urgency, no need for me to get actively involved. At most, he had an aura or two, brief episodes when his vision blurred and he felt disconnected from the world around him, temporary disturbances from reduced blood flow in those tiny vessels. There was little impact on our weekend adventures, so we rarely thought about it.
Then the call came from Bruce's family. They told him his sister Leanne, who also had CADASIL, wouldn't be around much longer. Bruce flew to Seattle to spend time with her and everything seemed okay. She walked with a cane to meet him for breakfast at Denny's. She was in some pain, but was laughing and sharing a meal. If anything, that visit made the family's warning feel less urgent.
Three weeks later, a second call came. Leanne was gone. We couldn't understand how she had gone from breakfast with Bruce to no longer walking among us. Only then did we learn the truth. Leanne had chosen death with dignity.
I was stunned. For years, I had kept the reality of the disease at a distance, but her choice made the disease real in a way I had been avoiding. I could only make sense of her choice by imagining the terror she must have felt, the slow erasing of herself, the future she couldn't bear to face. To choose to leave when she still could live, that shook me to my core.
Suddenly, I pictured Bruce facing the same decline his sister feared. For the first time, I felt something I couldn't outsmart, the helplessness of knowing this disease is going to happen regardless.
CADASIL is a rare disease whose name you'd think would make it stand out. It's an epic stream of syllables known as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. It's considered the most common form of genetic stroke. It is still rare in the general population, affecting 2 to 5 people per 100,000 worldwide.
But in a family with a mutation, it's everywhere. Each child has a 50‑50 chance of inheriting the altered NOTCH3 gene. In Bruce's family, three of the four siblings had inherited CADASIL.
I had spent my career developing drugs for diseases of the brain, Alzheimer's and multiple sclerosis, conditions with no shortage of researchers or companies working on them. But with CADASIL, only a handful of researchers and no companies were working on it. With a PhD in neuroscience and a career spent developing drugs for brain diseases, I was in a rare position to help. So why was I doing nothing for people like Leanne, people living in fear of CADASIL?
You might assume that with my science background, I would know exactly what to do. But the truth was, I didn't trust that I could help. I knew how impossibly hard it is to identify a drug, let alone develop one. And in CADASIL, the very first step to finding a drug felt completely out of reach. There was no roadmap, no leadership, no momentum.
Still, my problem‑solving brain kicked in. I started searching for a way to help, driven by a quiet promise rising in me to look for a way, to not look away from this disease, but a promise to Bruce and to families like his.
The opportunity came in the most unexpected way through my 85‑year‑old mother's water aerobics class in Florida. Against all odds, a woman visiting from Seattle mentioned CADASIL, and my mother said, “My daughter's boyfriend has CADASIL.” That watery conversation led to a phone call, and that call pointed me toward the cureCADASIL association, a patient‑led organization.
I started volunteering with them and, from there, things began to move. The organization was small, but it was determined to live up to its name, cure CADASIL. They wanted to change the story of this disease, but they didn't have a roadmap for how to begin.
My intuition told me that if we were ever going to make real progress, we would need a way to bring researchers, clinicians, and families into real conversation. So I started creating places for those conversations to begin. At first, it was simply getting the scientists in the same meeting. But once they started talking, they kept talking and collaborations formed. Conversations deepened, not just among the scientists, but with our organization too. And a community began to take shape, a space where the CADASIL world could find each other and build shared momentum.
From that growing network came something I had dreamed of, a major grant that put patients and scientists at the same table and positioned our organization as a leader in patient‑partnered research. I stepped into leadership roles I never imagined for myself, helping build partnerships, shape strategy, and connect opportunities that could accelerate the science.
As cureCADASIL strengthened its voice, we began to establish our presence in the field and contribute to the growing momentum.
Over the next eight years, while all of this progress was happening, life kept happening too. CADASIL caught up with Bruce. He has had several life‑changing strokes. While we can no longer climb every mountain, we still hike a mile or two on a good day. For Bruce, it's painful and slow, but the outdoors still holds our love language. We just practice it differently now.
Nearly a decade after that first reach out to cureCADASIL, I found myself sitting at my desk, tears welling as I typed the title of the grant proposal, “Developing a Disease‑Modifying Therapeutic for CADASIL”. We had already won a major grant that helped build the patient research community, a partnership between cureCADASIL and a research clinician, but this second grant was different. I volunteered my time to help another researcher apply for funding aimed directly at developing a therapeutic, something that could finally change the course of the disease. And for the first time, I was stepping in as a scientist, bringing together my expertise in drug development with my passion to change the future of CADASIL.
It wasn't just a grant I was helping to prepare. It was my promise finally taking shape, a promise I had made to Bruce, to Leanne, to every CADASIL family who had ever lived with the fear of what might come next. The implications of this grant were overwhelming, not because the work was done. It wasn't. But because CADASIL research is accelerating. We are moving strategically and collectively towards something that could change the future for Bruce's family and for others.
Somewhere along the way, I became the person who could make a difference by trusting the part of myself that knows from my weekends in the mountains that the hardest moment is finding the trailhead. Once you step onto the path, you learn the way as you go.
Thank you.