Sophie Umhofer, 44, was diagnosed with stage 4 bowel cancer in 2018 at the age of 36. She was told she would be unlikely to see her 40th birthday. However, later this year, she will be celebrating five years with no evidence of disease - thanks to an experimental immunotherapy trial, for which she was eligible because her tumour had a faulty BRAF gene.
My symptoms first started in August 2017. I was suddenly sick for no reason. I hadn’t eaten anything strange or been drinking. I didn’t feel unwell. It just came out of the blue and seemed odd to me. A week later, it happened again, and then other random episodes of vomiting followed over the next few weeks.
Eventually, I went to the GP who did a load of blood tests. These revealed that I was very anaemic and I was put on iron tablets. Until then, I had assumed my constant exhaustion was down to the fact that my son, then aged two, was a terrible sleeper, barely sleeping more than 45 minutes at a time each night. In hindsight, I had also lost weight, but this did not ring any alarm bells for me as I had been trying to get in shape and was going to the gym a lot. Other than the vomiting, nothing felt off to me.
The GP sent me for further tests, including an endoscopy and tests for various food allergies. I saw a gastroenterologist who felt that my anaemia was probably due to the fact that I was a young woman of menstruating age. There was never a suspicion or any mention that this could be cancer.
By February 2018, I was starting to get more bowel-related problems: cramps, the occasional bout of diarrhea, but nothing consistent. Then, during a trip to Disneyland Paris with the kids, I experienced very bad stomach pain and noticed that my stool looked red. On my return home, I had a stool test, but there was no indication of anything unusual. However, a short while later, I experienced another flare up and this time, my stool sample showed that my inflammatory markers were high. I was referred to the Inflammatory Bowel Disease (IBD) clinic for investigation into suspected Crohn’s Disease.
“I never expected to be told I had cancer”
In June 2018, I had a colonoscopy. It was a Friday. At this point, I was feeling really bad with sickness, diarrhea and pain. The procedure itself was painful and I was told that it could not be completed because the camera could not get past a lesion in my bowel. I was sent home with no further information and was told to come back for an MRI scan on the Monday. Following this scan, I got a call from the IBD doctor telling me that I needed to have a CT scan before our follow-up appointment that Thursday.
I was not told to bring anyone with me to the follow-up appointment, but as I was feeling so unwell at that point, my husband had taken some time off to look after me and he fortunately came along with me. We were taken to a room at the end of a corridor and there were three people there. I don’t remember being introduced to them, but before I could even sit down, I was told that I didn’t have Crohn’s Disease - in fact, I had bowel cancer that had spread to my liver. It had also reached my lymph nodes, right up to my neck.
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To hear those words was a terrible shock. I had never expected to be told I had cancer. I was young, fit, ate a healthy vegetarian diet, and my symptoms did not obviously fit the bowel cancer profile. I had been convinced (as had the doctors) that I had Crohn’s Disease. Cancer had never even been mentioned.
I don’t remember a huge amount of what was said in that room. I was so shocked. It almost felt like everything just faded out, I wasn’t really hearing what people were saying. The colorectal nurse handed me some information and told me that I would be referred to an oncologist.
It was very scary not knowing what was happening or how serious the situation was. I don’t remember crying myself, but I do remember hearing my husband crying behind me and feeling that I had to be the strong one. My role in the family was to make sure everyone was OK. I think I knew what I would be able to tolerate – and I felt I would rather be the one going through it all than having to watch someone I cared about going through it. At that point, I didn’t know exactly what I was dealing with, but I didn’t feel optimistic at all.
“With successful treatment, I only had two or three years to live”
The following week, we saw the oncologist. I was told that as my tumour was so large, I would need to have surgery first, followed by chemo. It was explained to me that my cancer was stage 4, it had spread extensively to my back, lymph nodes and liver. I had already done some Googling and was aware that this was not a great diagnosis.
My surgery took place in July 2018 - on Friday 13th. I had convinced myself I would not wake up from the surgery and made sure that I had written letters to my children (then aged 3 and 6) and had given my husband all my passwords.
They managed to remove most of the tumour during the operation, although some cancer still remained in my liver. Several lymph nodes and part of my stomach were removed too – and the tissue was sent for biopsy.
Two weeks later, I saw the oncologist. The biopsy revealed that my cancer had a faulty BRAF gene, which plays a role in cancer development. I was asked if I wanted to know my prognosis. I said yes, and was told that with successful chemo, I had two to three years to live. Without treatment, it would be a matter of months.
It was awful to hear. I couldn’t face telling my parents as I knew they would take it very badly. My children were so young that it was hard to know what to say to them. I sought advice from friends, books and their schools, and we decided to be as open as we could in language they could understand. My son was only three so there was very little I could explain to him. My daughter was six. I remember telling her that there was something bad in my body that needed to be taken out because it was making me poorly, and that I would need to take medicine to get rid of it that might also make me poorly. That’s as much as she could understand at the time and to be honest, I was grateful for that. I have friends who have had similar conversations with their teenage children and it seems so much more difficult when your children are older, understand what cancer is, and what you might be facing.
That said, the fear that my three-year-old would not even remember me and that my six-year-old might barely remember me either, was very real. These thoughts caused a deep ache in me and I did a lot of things to try to prepare them and to make sure that I would not disappear for them over time. I made videos, wrote them letters and cards, and created a memory box.
I was told I would need to start palliative chemo straight away and that I would be on it for the rest of my life. It was a very difficult time. My husband was a contractor at the time and was unable to take lots of time off work. I was in bed for much of the time.
I had a port fitted in my chest and in August, four weeks after my surgery, I started my chemo. Every two weeks, I had to be in hospital for eight hours and then had the rest administered over two days at home via a pump. Initially, it worked well, but after three or four rounds of chemo, I started to get very sick. I was taking large numbers of antiemetics to combat this, but I was scared to tell the doctors quite how bad it was. I knew the chemo was the only option for me and I was terrified that they would want to stop it, knowing how unwell it was making me.
“I thought that was it for me – my world collapsed”
On Christmas Eve, I had a scan. By now I was in hospital, unable to keep anything down. The scan showed that the chemo had stopped working. My tumours were growing again and there was too much toxicity in my body. I had no other option but to stop the treatment after only eight cycles.
Being positive at that point was very hard. I thought that was it for me, and my world collapsed. I really thought I wasn't going to live much longer and everything revolved around preparing the kids for me not being here. Because of what I had been told about the BRAF mutation and the prognosis I’d been given, I always had in my head the thought that I’d live two to three years max.
However, from the time of my diagnosis, we had been working on something in the background. My husband had done a lot of reading about possible options and he had mentioned to my oncologist an immunotherapy that he had heard about in Germany. It was not available on the NHS and would have cost us around £100,000 to have it in Germany. We had already started to fundraise for this.
At the same time, my oncologist had been in talks with colleagues at another hospital who were seeking candidates to trial an experimental immunotherapy that had previously been used successfully to treat patients with BRAF-positive melanomas. They were now looking for patients with BRAF mutations in cancers other than melanoma, and who had exhausted all other treatment options. I was lucky (or unlucky) enough to fit these criteria, so was put forward for the trial under the ‘compassionate use’ protocol, which allowed me to access the treatment due to the seriousness of my condition.
I started immunotherapy in February 2019. I was given a combination of the drugs nivolumab and ipilimumab for the first four cycles and then just nivolumab every two weeks for the next two years. I was told there was a 40% chance I would develop an auto-immune disease as a result, and after four cycles, I was diagnosed with Addison’s disease, a long-term endocrine disorder which left me with symptoms like fatigue and muscle weakness.
“Immunotherapy brought my cancer markers down”
I was aware that I was a guinea pig and there were not many people ahead of me on this trial. But starting immunotherapy made me more positive and hopeful, and as it continued, I felt even more so. The drugs brought my cancer markers down, but my regular CT scans were still showing tumours in my liver. However, a PET scan later revealed that these were not cancerous. Eventually, after two years of immunotherapy I was found to have no sign of cancer in my body.
In March 2021, I had a liver resection to get rid of the abnormalities picked up on the CT scans. A biopsy confirmed there were no cancerous cells present. My final immunotherapy session was in July 2021. Since then, its effects have thankfully continued to work. I have had no further treatment and my regular scans continue to show no evidence of disease. I have been told I will have regular scans for the next 10 years, but for me this offers some reassurance. The thought of no monitoring at all is scary.
“Without cancer research, I wouldn’t be here”
In July, I will be five years cancer-free. It’s hard to explain exactly how I feel about everything. I definitely feel more and more optimistic - and hopeful too, but there is always that thought in the back of my mind that the cancer may return. I think that is something I will have to deal with for the rest of my life, no matter how long I am cancer-free. These days, I am able to compartmentalise it somewhat, in order to protect myself. But I still get very emotional when I think back to my diagnosis and treatment, and how I felt about the kids growing up without me. Looking back, I was an absolute wreck during chemo…
I still find it hard to think too far ahead. For such a long time, I could only dare to plan my life two weeks ahead and I stopped thinking about the future entirely, so it has been hard to adjust. I know someone who is a year ahead of me and she is still cancer-free. This has helped to give me hope. I am aware that in life, you never know what is round the corner, so I am conscious about not getting ahead of myself. But for the first time since my diagnosis, I am starting to make plans, and we have already booked a holiday for later this year which is something to look forward to. I tell myself that I have got this far, so I have to continue to be positive. And I will hopefully continue to feel more and more optimistic once I reach that milestone of five-years cancer-free.
I know that without cancer research, I wouldn’t be here. Research and scientific developments happen so quickly and they are so important. Had I been diagnosed six months earlier, I know that I probably would not have had the immunotherapy available to me that saved my life. I have benefitted directly from new scientific developments. Research, experiments, scientists thinking outside the box – it is all so important. I wouldn’t be here today without it.
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