Frances' story: High grade serous ovarian cancer

When Frances began to feel tired and noticed a small pain between her ribs, she put it down to a fall on her recent skiing trip. When the tiredness became worse and she began to feel breathless over a few weeks, Frances arranged to see a GP online. The doctor told her to go straight to hospital suspecting a pulmonary embolism after recent flights.

It was found that Frances had fluid around her lungs, causing the pain and breathlessness. As a veterinarian, Frances had treated this condition before in animals, but didn’t consider cancer as a cause initially.

She said; “Once the fluid around my right lung had been drained, I felt so much better that I didn’t dwell on the potential sinister cause.”

Frances returned home and was told to wait for a respiratory consultant appointment, but the symptoms quickly returned.

Frances said; “I called my friend who is a nurse, and she asked me if I’d been on a run because I sounded so out of breath, but actually I was just lying on the bed. That’s when she encouraged me not to wait for an appointment, but to go back to the hospital to get re-assessed.”

Upon her return, a sample was taken from the drained fluid. Cells in the fluid were found to be cancerous, but from a cancer type not originating in the chest. Following this finding in March 2023, it took another month of multiple scopes, X-rays, CT scans, ultrasounds and biopsies to determine the cause.

Frances was diagnosed with high grade serous ovarian cancer.

The life changing impact of whole genome sequencing

After her cancer diagnosis, Frances received whole genome sequencing through the NHS Genomic Medicine Service.

The initial results showed a genetic change in her BRCA2 gene within the tumour tissue. This meant she was eligible for a new type of treatment known to be effective for her specific variant. The treatment had only recently been recommended by NICE for the maintenance of serous ovarian cancer patients like Frances a few years prior.

Frances said; “Getting a genetic diagnosis had huge benefits for me, because I knew it meant I would qualify for treatment which increased time free from progression of the disease, and overall survival time. However, I had concerns about what it would mean for my daughter and other female relatives.

Fortunately, the blood tests showed that the mutation was somatic, meaning it happened spontaneously in the tumour cells and wasn’t in my germ cells.

This felt like a win-win because I qualified for the treatment, and I was relieved that it wasn’t a hereditary genetic variant I may have unknowingly passed to my daughter”.

Further information from the whole genome sequencing also showed a change in her RAD51D gene. This is also involved with tumour DNA repair and is hereditary.

Frances is currently having maintenance therapy for her cancer, with both genetic variants responding very well to her specific treatment pathway. The treatment involves an infusion every 3 weeks and tablet medication twice daily. She has been on this maintenance protocol for 8 months.

Spreading the word

Though Frances now gets fatigued and has some muscle pain, she still enjoys being active and spending time with friends and family.

She said; “I have to be more selective about what I choose to do, but I still love walking and cycling, and now I use an e-bike so I can cycle with my family. Yoga is very helpful too for the muscle stiffness and mental wellbeing.”

Frances is also part of the Ovarian Cancer Overcome walking group, made up of women with ovarian cancer who share a passion for walking. Frances said; “We share photographs when we’re on walks. It’s a great way to help recovery and it motivates those still in hospital or unable to walk, especially on those days that the treatment or disease is incapacitating.

Out of 15 ladies in the group, only 3 have had whole genome sequencing. I always share with them how much whole genome sequencing helped me, and encourage them to get a referral for it. “

Frances doesn’t just advocate for whole genome sequencing; she is also passionate about raising awareness around ovarian cancer.

She said; “70% of patients with ovarian cancer only present symptoms after it has spread, by which point it cannot be cured, only maintained. As of yet, there is no regular screening programme for it, so it’s difficult to spot early.

Whenever I talk to people about it, I say ‘tell 3 other people you know’, that way we can help to raise awareness. The symptoms to be aware of include bloating, changes in eating, feeling full afterwards and change to toileting behaviour. Sadly, it is often initially misdiagnosed a UTI or irritable bowel syndrome. Then the opportunity for a cure is missed. By highlighting the disease and its symptoms, more women and GPs will be looking out for it.”