Married with three grown-up children, the retired medical secretary, who is of Ashkenazi heritage and belongs to Muswell Hill Synagogue, had already lived under the shadow of cancer for decades. She had seen her mother and three aunts all die of breast or ovarian cancer, and she herself had tested positive for the deadly gene mutation BRCA2.
“I had dodged a bullet with the breast cancer,” she says, “how it didn’t come I don’t know.”
If people have heard of the BRCA gene mutation, they usually associate it with breast and ovarian cancer, but it also brings a heightened risk of other forms of the disease. For men there is an increased danger of prostate cancer, and up to 5 per cent of all BRCA2 carriers will develop pancreatic cancer during their lifetime, compared with about 1.7 per cent of the population in general.
Steph was right to think that the outlook was bleak. “Pancreatic cancer, by its nature, is usually a very aggressive cancer,” says expert Professor Debashis Sarker. “In about 70 per cent of patients, at the time of diagnosis, the cancer has already spread. It spreads very insidiously, it can spread to multiple organs quite quickly without patients knowing about it.” According to Cancer Research UK only 10 per cent of patients survive a year after diagnosis.
After undergoing radical surgery, Steph was given between five and eight months to live. She then started an intensive programme of chemotherapy. Struggling with the side effects and knowing that there was no chance of a cure, she wondered if it was worth it. “After the third round, I didn’t want to have it any more. I wanted to withhold treatment,” she says. It wasn’t the doctors who convinced her to continue but her family. “I saw my daughters’ faces, so I went back for the fourth one.”
Eventually, Steph managed to get through eight gruelling rounds of chemo, after which she qualified for the drug Olaparib, which is only given to BRCA carriers. The transformation has been nothing short of miraculous.
“I’ve got an amazing quality of life,” says Steph, who is now 71. “I’ve had PET scans and CT scans once every three months, and blood tests every month.” So far the results are clear. She says her specialist is “absolutely stunned. He’s really amazed. He’s so happy. He said, other people last a long time, but not with the quality of life that I’ve got.” Steph and Keith go to the theatre and art galleries, they socialise with friends and at their synagogue, she enjoys shopping, and they spend many happy hours traipsing round London or the countryside with a guidebook in hand. “We just do what retired people do, really,” she says. Even in a telephone conversation her joie de vivre is palpable.
Stunned: Prof Sarker[Missing Credit]
Professor Sarker says Olaparib has been available for around 20 years, though initially it was only used to treat breast and ovarian cancers in women who have the BRCA gene mutation. He explains that the role of a healthy BRCA gene is to repair faults in DNA. In people whose BRCA gene has mutated or changed and is now faulty, those repairs do not happen correctly, and the build-up of incorrect repairs can lead to the cells becoming cancerous, which in turn can lead to the development of malignant tumours.
PARP is an enzyme that helps to make the kind of faulty repair which can lead to cancer in people whose BRCA gene isn’t working properly, and Olaparib is a type of drug known as a “PARP inhibitor”, blocking the action of that enzyme and thus preventing the early cell level changes that will eventually lead to cancer. But it only works for those 3 to 4 per cent of pancreatic cancer patients who carry the BRCA mutation.
Unlike chemotherapy, which attacks all the cells in the body, both healthy and faulty, Olaparib and drugs like it are much more selective, says Prof Sarker. “And because it’s only really acting against those cancer cells that can’t repair DNA properly because they’ve got the BRCA mutation, there’s a relatively healthy sparing of your body’s normal cells.” That means much fewer unpleasant side effects than chemo.
Though Prof Sarker says you can acquire a BRCA gene mutation during your lifetime, it is the inherited form that is more common in people of Jewish descent. According to the charity Jnetics, while around 1 in 250 people in the general population inherit a BRCA gene mutation, for people of Ashkenazi Jewish heritage it is 1 in 40 and for Sephardi heritage 1 in 140.
“The current estimate is that by 2030, pancreatic cancer will be the second biggest cause of cancer-related death in the United States,” says Professor Sarker. The commonest cancers are breast, lung, prostate and bowel, with pancreatic cancer coming eighth in terms of its incidence in the UK, according to the World Cancer Research Fund.
Prof Sarker was one of the researchers on a recent trial that found though Olaparib doubled the length of progression-free survival, it didn’t improve overall survival. But some patients are the exception, and luckily Steph is one of those.
Prof Sarker says: “It’s a miracle drug for Steph, yes, you can’t put it any other way. But is it a miracle drug for the majority? I think, sadly, we can’t say that. Why she has done exceptionally well compared to the majority, we don’t know the answer to that.
“It’s obviously fantastic to see, and it’s a privilege to be able to contribute in some way to a patient’s overall health and wellbeing.” His next hope is to be able to get the same results in many more patients, though he concedes, “Sadly, we’re still a little way off.”
As for Steph, she is profoundly grateful. “I’ve been so blessed, I just can’t believe it how blessed I am. I don’t have any side effects at all.” And we end the call, because she’s a busy woman with stuff to do, enjoying life.
