Author: Alexandra Frederikke

In the spring of 2022, my then 23-year-old nephew was experiencing pains in the side of his abdomen. He visited the doctor who, at first, thought it was an STD, then a kidney stone. When he started peeing blood, the doctor still suspected kidney stones, but finally ordered an ultrasound which showed inconsistencies. A few weeks later, he was sent for a scan which showed a large mass on his right kidney. The results were emailed to him, but no doctors got in touch with him. I ended up calling a friend who was in the system, asking her to please make them call or meet with us to explain the results. They called the same day and said the next step would be a biopsy. The time we spent waiting for the results of his biopsy was unbearable. But the doctors finally seemed to take this seriously. Due to his young age, they suspected Wilms tumor and lymphoma with mets to the kidney. They explained that these would most likely require systemic treatment rather than surgery, but to be on the safe side, they had us meet with the surgical team if the results came out as kidney cancer.

I still remember standing on the beach when the surgeons called and said it was kidney cancer, and that my nephew was scheduled for a radical nephrectomy surgery 2 days later. We took a photo of his body, which we knew would soon have a scar for life.

The surgery went smoothly. One of the surgeons said they had gotten it all, but that there were some enlarged lymph nodes left, which might need to be removed after a few months with another surgery. The right kidney, adrenal gland, and a few regional lymph nodes had been removed. She sounded confident, so I felt relieved.

A few weeks later, we went to meet with the doctor to receive the results of the biopsy of the primary mass on the kidney. At that point, I had googled kidney cancer and read about the main types and looked at their prognosis. The doctor told us he had a very rare and aggressive type of kidney cancer called Hereditary Leiomyomatosis and Renal Cell Carcinoma associated Renal Cell Cancer. The name was so long she had to write it down on a slip of paper for us. She said it was inherited from one of his parents. None of them ever received such a diagnosis though. We then asked her a bunch of questions to which she mostly couldn’t give an answer. The key takeaway she said was that it was all gone and might not come back. She then sent us off and asked us not to google the disease as it was a complicated disease. So the first thing I did when leaving the hospital was to google it. Naturally.

Everything I read was so shocking. All I could do for the next many days was sit with my phone and read through article after article. Realizing this was a serious diagnosis, I decided to start organizing my notes and the knowledge I was gaining into a fat folder. I told my nephew to focus on his recovery and enjoy some downtime. I got access to his medical journal and started freaking out when I saw that they had the HLRCC diagnosis already from his first biopsy and had known during surgery, but had still decided to leave some of the affected lymph nodes. This sounded very inconsistent with the advice I was reading about being aggressive in surgery with HLRCC cancer.

A few weeks later, my nephew had another scan to check on the lymph nodes, and it looked worse than before. I couldn’t believe that the surgeons had said they had gotten it all when this was clearly not the case. I was feeling more and more distrustful of the doctors and their lack of clear communication.

My nephew was transferred to the oncological department, where he met a doctor who told him he was the second known case in Denmark. I spent most of my time trying to contact the doctors to inquire about the treatments they were considering. I got in touch with a friend who has BHD, who told me about the NIH in the US. I also got in touch with the amazing, late Bruce Lee from Driven to Cure, who responded so quickly and got me into the HLRCC Facebook group. I was able to get in touch with NIH, who, unlike the Danish doctors, actually answered their phone, took their time to talk to me, and passed me on to a specialist who was able to guide me regarding treatments. Bruce Lee and the staff at NIH were the first people who took their time to speak with me and were able to give me any information on this. It was a load off my shoulder speaking to someone with knowledge. When I then started speaking to members of the HLRCC Facebook group, I felt like we were no longer alone in this.

I had all of my nephew’s reports sent to NIH and quickly received confirmation that he should be started on Bevacizumab plus Erlotinib. I sent emails to the doctors in Denmark, asking whether this combo would be made available, as I had read the Danish Medical Board’s regulations on kidney cancer treatments and found that this was not an option in Denmark. We finally got to speak with the oncologist, who said that Beva plus Erlo was indeed the right option, and that he had received special permission to start my nephew on this treatment. We were finally going in the right direction.

At that point, it had been seven weeks since the results of his biopsy. We had not received much information or guidance. I had spent many nights reading and researching and feeling like I had to save my nephew. He had enough going on coping with his disease, so I felt that it was my responsibility to get on top of things and make sure he was treated correctly. I put pressure on his doctors, while mentioning that I was not a doctor, but that, unlike them, I only had one patient I needed to save. So, I was there to do the admin, “networking,” and making sure they stayed on top of his case. This wasn’t always well-received, but I have no regrets being a pushy pain in the butt after a very slow start on their behalf. They finally agreed to collaborate with the NIH and take their recommendations, knowing that they were the global specialists.

After my nephew received his first course of Bevacizumab and Erlotinib, we went out to celebrate with a fun-filled day, realizing that he was now actively fighting the cancer in his body, also knowing that side effects were likely to kick in soon. And they did. Severe rash on the face, chest, neck, and on the hands, mouth, and throat ulcers, stomach ulcer, fatigue, hair thinning, liver problems, diarrhea, and nausea. He was living through hell. But at the first check scan, only two months after starting treatment, we received amazing news. The mets were getting smaller. It was the first meeting we had where he received good news. The next scan showed the same amazing result. The third scan showed basically no cancer left. It’s now been over eight months since he started treatment, and he is so close to being determined NED.

It was the toughest months of my life, and I wasn’t even the patient. It’s hard to imagine what my nephew was going through when he started realizing what his diagnosis entailed. I was so stressed, often crying, not sleeping, and only feeling OK when I was deep in medical papers and feeling like I was understanding more and able to plan out the best courses for first, second, and third-line treatments. We are beyond grateful and feel very lucky that my nephew responded so well to his first-line treatment and can now feel hopeful that he will have a long life ahead of him.

I’ve realized that you must advocate for your health and help those close to you by taking the lead (or supporting them if they feel up to it themselves) while they are battling. Arm yourself with knowledge, and don’t be afraid to ask for second opinions. It is overwhelming, even if you are not the one with the disease, so make sure you look after yourself as well. And do reach out to any network you can find. It helps to speak to others, and you will be surprised by how kind people are in sharing their knowledge and experience. I feel grateful to be able to share my nephew’s story of success, and I’m so proud of his battle!