July 25, 2026
Hello everybody! Unfortunately, because of my current cancer diagnosis, I am not able to attend the conference in person. However, I still wanted to share my story. I hope it may inspire others, and perhaps my experiences and the way I have faced cancer can be helpful to the Bloom syndrome community, to parents, and to other people living with Bloom syndrome.
We had hoped to record a video message, but unfortunately I am not able to speak well at the moment because I had just undergone a three-day chemotherapy treatment and the tumor in my tonsil has grown again and is affecting my speech. Ben has very kindly offered to read my story on my behalf.
My name is Kerstin Hofstetter. I am a physician, 41 years old, and I was born and raised in Munich, Germany.
I have been married for 11 years. One and a half years ago, after my most recent cancer diagnosis, my husband and I emigrated to Iceland. We now live in Akureyri, the second-largest city in the far north of the country, about a five-hour drive from the capital, Reykjavík. There, I worked part-time as a physician in the emergency department of a small hospital.
For the past year, I have been serving as the Global Ambassador for Germany for the Bloom Syndrome Association. Together with my colleague, Tanja Obermeier we are the contact persons for patients with Bloom syndrome in Germany.
Emigrating to Iceland was a consequence of my breast cancer diagnosis three years ago. The cancer also brought many positive things.
It was only five years ago, in 2021, that my sister and I were finally diagnosed with Bloom syndrome. So very late. My sister’s gynecologist was familiar with the syndrome and specifically tested her because she was unable to have children. Having children was never quite as important to me as it was to my sister. My husband and I had accepted that it probably wasn’t going to happen. After my sister’s diagnosis, I was tested for Bloom syndrome as well.
When we were children, in the 1980s my sister and I had already been tested for a genetic disorder called Silver-Russell syndrome, but it never really matched our symptoms. My sister is doing well today. However, just last month she had to undergo surgery to remove her uterus and ovaries because cancerous tissue was found. Fortunately, she did not need chemotherapy. This is her first cancer diagnosis at the age of 43, so she is doing very good.
My own first cancer diagnosis came when I was just four years old in 1989. I had a nephroblastoma, also known as a Wilms tumor, in my right kidney. The kidney was removed together with the tumor, and ever since then I have taken great care of my remaining kidney. Fortunately, the cancer was detected at Stage I. However, the surgery and the six months of chemotherapy that followed were extremely hard on me, and I barely survived the treatment at the beginning.
My second cancer diagnosis came three years ago, when I was 37. I was diagnosed with an aggressive triple-negative breast cancer (TNBC).
And now, at the age of 41, I am facing my third cancer diagnosis. Since February, I have been fighting a very aggressive and difficult-to-treat lymphoma affecting my right neck and tonsil.
Bloom syndrome has had a profound impact on my life. This genetic disorder has been relentless. When I finally received the Bloom diagnosis five years ago, I felt both relieved and shocked at the same time. In many ways, I studied medicine because I wanted to understand what was wrong with me. My sister and I were both unusually small, I developed type 2 diabetes at a young age despite being slim, physically active, and eating a healthy diet. I also have a lipid metabolism disorder, infertility, and had cancer as a child. Deep down, I always knew that something wasn’t right, and I chose to study medicine so that I could better understand my own health and help myself.
On the one hand, I was relieved to finally have an answer. On the other, I was terrified, knowing that another cancer diagnosis was, in all likelihood, only a matter of time. My greatest hope was simply to finish medical school before cancer returned.
Unfortunately, it came much sooner than I had expected. At the time, I was a medical student preparing for the second major state examination. The exam required six months of intensive study, covering 42 subjects, followed by three consecutive days of five-hour examinations. I had just made it halfway through my study plan when I was diagnosed with breast cancer.
I have to admit that breast cancer did not come as a complete surprise. It is common in people with Bloom syndrome, and my grandmother had also had breast cancer. I had deliberately scheduled all of my routine screening appointments during my study period because my schedule was more flexible at that time. A breast MRI revealed two lesions in my right breast. After that, everything moved very quickly. A core needle biopsy confirmed the diagnosis: a highly aggressive triple-negative breast cancer.
From that moment on, I was no longer able to concentrate on studying. Instead, I focused on organizing my treatment and surgery. By then, I had progressed far enough in medical school to understand the medical details, and thanks to the network I had built through my doctoral research, I was able to develop a treatment plan very quickly.
However, I ultimately chose a treatment approach that was completely contrary to the clinical guidelines. Normally, patients with this type of breast cancer begin with chemotherapy. Instead, I decided to undergo a radical mastectomy without breast reconstruction. I also chose to have my healthy breast removed as a preventive measure. My priority was to heal as quickly as possible.
After surgery, I had just three weeks left before my state examination, so I returned to studying. Sitting the exam was incredibly difficult. By the third day, I almost did not show up because I was physically and emotionally exhausted. But based on my scores from the first two days, I realized I still had a chance of passing. The final day was one of the hardest experiences of my life, but I answered all 360 questions and, in the end, passed this immensely important examination by the narrowest of margins.
Afterwards, my doctors wanted me to begin chemotherapy immediately. But first, I needed time to recover from the shock of the diagnosis, the surgery, and the enormous stress of the examination.
Originally, my husband and I had planned to spend four weeks trekking around the Annapurna Circuit in Nepal. Naturally, that was no longer possible. We needed an alternative, and my husband suggested Iceland. I had never been there before, and its landscapes are every bit as breathtaking as Nepal’s. We booked a ten-day trip to Iceland—and that journey ended up changing our lives completely.
My life changed profoundly during and after my illness. Instead of spending four weeks trekking in Nepal, I found myself spending just over a week in Iceland. Yet this unexpected change turned out to be life-changing. I was captivated by the country, its people, and, above all, its horses. For the first time in years, I felt as though I had regained a real sense of vitality and joy for life.
After riding at one particular farm, I booked an eight-day horseback riding tour for the end of my chemotherapy. 8 days riding on the beach Having that journey to look forward to gave me a powerful source of motivation throughout my treatment. It became a clear goal that carried me through the difficult months of chemotherapy.
However, the goal of being physically fit enough for such a long horseback expedition just three months after chemotherapy was an ambitious one. It was constantly at risk because my treatment was repeatedly delayed due to poor blood counts. In the end, though, it worked out. I was just fit enough to go, and every single day of that journey became an unforgettable experience. During that time, I developed a close bond with the farm and with the Icelandic people there. They became my very first Icelandic friends.
It was also important for me to finish medical school. I arranged a clinical placement at a small hospital in Akureyri, where I received a very warm welcome. My time there strengthened my conviction that I wanted to move to Iceland permanently. In fact, it was the only place where I could truly imagine working as a physician.
And that is exactly what I did—until my current cancer diagnosis.
Looking back, I have to say that my experience with breast cancer was, in many ways, a success story. By then I was far enough along in medical school to understand my disease, advocate for myself, and make informed decisions. I had an excellent medical network, I was able to stand up for what I believed was right, and everything followed the plan I had made. I felt in control. I even had the opportunity—although it may have seemed a little crazy—to present my doctoral research at a scientific conference because my blood counts were too low to receive my next round of chemotherapy. I also attended a concert and a horse-riding seminar during treatment. If you are not too afraid to stay active, and you know your own body well, you can often do much more during cancer treatment than people expect.
Most importantly, Iceland gave me hope and a vision for my future. Before beginning work as a physician, I wanted to do something completely different. I returned to the farm and worked as a tour guide, as well as in the hotel and kitchen, alongside twelve much younger men and women. It fulfilled a dream I probably never would have dared pursue without having gone through cancer. I was by far the oldest member of the team, and before long I also took on organizational responsibilities. That season on the farm last year was the happiest time of my life. The work was physically demanding, but the spectacular nature, the horses, the dogs, and the cheerful tourists were exactly what I needed.
After that, I moved to Akureyri to work as an emergency physician, and that was incredibly challenging. I only started medical school at the age of 30 and it took me many years to complete my degree. I think that is an important part of my story. I had to admit to myself that, at 40 years old, living with Bloom syndrome and after a previous cancer diagnosis, I simply could not work like most new resident physicians. I was not in my mid-twenties anymore, and with my medical history I could not sustain that workload—at least not without enormous physical and emotional effort. It was simply too exhausting.
I also found working with patients emotionally difficult because I empathize with them so deeply. Even during my doctoral research on patients with inoperable lung cancer, I became very emotionally invested, which made the work even harder. Letting go of something I had worked toward for so many years was not easy, but it had fulfilled its purpose, and I knew it was time to follow a different path.
Now I am facing a much greater challenge.
Since February, I have been living with an aggressive, treatment-resistant peripheral lymphoma. I had just moved to Iceland and had only worked as a physician for a few months when Bloom syndrome confronted me with yet another cancer. It came far too soon. I had hoped for more time in Iceland without cancer—especially because this lymphoma has been particularly aggressive, persistent, and painful.
Ironically, February was also a time of major change in my life. I had already decided that I no longer wanted to work full-time as a physician. Instead, I wanted to become a part-time Assistant Professor at the university while also working in tourism. I was planning to obtain licenses to drive buses and horse trailers and had already attended several job interviews when the signs of another cancer became impossible to ignore. Once again, everything I had been building was suddenly taken away.
Three years ago, breast cancer inspired me to choose a different path. I approached my treatment in a way that was entirely tailored to my own needs. For reasons I cannot fully explain, I always knew exactly what I wanted and how I wanted to proceed, and I did not allow others to pressure me into different decisions. Of course, that also meant accepting that, if the cancer ever returned, I would have to live with the responsibility of having chosen a treatment that did not strictly follow standard guidelines.
So when the first enlarged lymph node appeared in my neck this February, my immediate thought was, “Oh no—it’s a recurrence of my breast cancer.” Strangely enough, I felt relieved when it turned out to be something entirely new caused by Bloom syndrome. It meant that I had treated my breast cancer successfully. At least I could hold on to that.
This lymphoma, however, has demanded absolutely everything from me since February—above all, my independence. Every plan I had made for this summer has disappeared. Unlike my previous cancer, where I felt I was holding all the threads in my own hands, this time I am completely dependent on my physicians and on the available treatments. I have experienced numerous side effects as well as repeated treatment delays. I have now received my fourth line of therapy, and unfortunately it has still not been effective enough. It remains a very difficult situation.
From the very beginning, my medical team in Iceland has worked closely with the virtual tumor board of the Bloom Syndrome Association, and their treatment recommendations have been incorporated into my care. Through UCLA’s Second Opinion Program, additional tissue samples have recently been sent for further testing in the hope of identifying another possible treatment option that may prove more effective.
Cancer is always a tremendous challenge. At its best, you survive and it changes your life. You stop waiting for the “right time” and begin seizing opportunities much sooner. You come to know yourself better and, ideally, gain a much clearer understanding of your own wishes, priorities, and needs.
For me, breast cancer became the catalyst that pushed me beyond what I thought I was capable of. It taught me to take responsibility for my own treatment, motivated me to finish medical school, enabled me to spend three unforgettable months in Iceland working as a horseback tour guide—a lifelong dream come true—and ultimately gave me the courage to emigrate to Iceland.
After nearly ten years of medical training, I finally fulfilled my dream of working as a physician in a small hospital in northern Iceland, even though I eventually realized that clinical medicine was not the path I wanted to continue. For all of those experiences, I am deeply grateful to my breast cancer.
I know that I am in the right place. My husband and I have bought a house here, and this is where we want to build our lives. If I overcome this lymphoma, I hope to work as an Assistant Professor at the University of Akureyri during the winter and as a tour guide during the summer. Those are the plans I still hold on to.
At this point, I do not know what the future will bring. I would have loved to attend this conference in person. At the very least, I had hoped to record a video message, but even that was not possible.
My medical team in Iceland is continuing to explore every possible treatment option. They are holding another multidisciplinary tumor board meeting together with specialists at a referral center in Lund, Sweden, to discuss potential new therapies for me. In addition, the repeat molecular testing may still reveal further treatment options. Unfortunately, the outlook remains uncertain, and for now, all I can do is wait patiently and hope that another option can still be found.
I would like to sincerely thank Ben for telling my story on my behalf and for all of you. The Bloom Syndrome Association and my connection especially with Ben, Mary Beth, and Todd mean more to me than I can express. Their support and this community are incredibly important to me.
Thank you for listening to my story and for being part of this community.