Rachel's story: GIST (sarcoma)

GIST tumours form in the gastrointestinal tract, a long tube running through the body, which includes the stomach and intestines. In Rachel’s case, she had more than 16 stomach tumours, which combined, were the size of a melon. In 2017, she had genome sequencing of her sarcoma – a way of looking at all of your genes in one test, giving better insight to doctors and researchers.

Getting a diagnosis

A promising 15-year-old gymnast, Rachel saw her GP after feeling increasingly dizzy and tired – she also had stomach pain. After treating her for low iron, her haemoglobin continued to fall to dangerously low levels and following an endoscopy, she was diagnosed with GIST. Doctors discovered that she had been bleeding internally from the tumours for up to five years and she had developed secondary cancer on her liver.

Rachel says: “They initially thought the low iron and stomach pain were due to heavy periods – I just thought I had done too many sit-ups as part of my gym training! When the doctors told me and my parents I had GIST, they said there wasn't much hope. They suggested taking part in a forthcoming clinical trial at Addenbrookes Hospital in Cambridge would give me the best chance of survival. They had to apply on compassionate grounds, as I was below the 18-year-old minimum age to take part.”

Living with GIST

Since then, Rachel has had three different types of chemotherapy in five rounds of treatment and in 2012 had 90% of her stomach removed, making eating incredibly painful and difficult. She still has tumours on her liver which rub internally and cause pain.

Having GIST has been life changing for Rachel. Training for 30 hours a week after school and at weekends, she dreamed of representing Great Britain in gymnastics. After starting chemotherapy, she became too ill to train or to sit most of her GCSE exams. She is not currently well enough to work and devotes her time to raising awareness about cancer on social media channels.

Life can be lonely with incurable cancer and the cat-lover says it’s hard to find a partner or sometimes to maintain friendships. The lockdown restrictions proved very isolating with Rachel being forced to stay indoors for around 1.5 years, as she has very little immunity and no private garden to exercise in.

She says: “I do have my ‘down days’ where I think about what I used to be capable of and now I can barely walk to the end of my road. I have been struggling with cancer and in pain for 20 years and sometimes I feel ‘stuck’. But I have found that allowing myself to be fed-up for long, just isolates me more and makes things worse. My mission is to help to reach as many people as possible to raise awareness about cancer, to help others to spot any warning signs and to get checked by their GP.

“One of the signs of having GIST is your poo turning black, because you are bleeding internally. We all know about checking for red blood, but it’s also not normal for most people to have black poo all the time. I hope that by me sharing my experience, it will help others in a similar situation to seek medical help earlier than I did.”

What having genome sequencing meant for Rachel

“GIST doesn’t usually affect young girls like me, so my doctor suggested genomic sequencing to try to find out more about my cancer," Rachel says. "I had GIST for about 15 years at that point and the treatments I had tried had only kept it stable for so long, then I would have to switch to another. So they suspected that a diagnosis at my age, meant I may have a rarer form of GIST that wouldn’t respond as well to the usual treatments.”

Results revealed that Rachel had ‘wild-type’ GIST, a rare sub-type, caused by a glitch in her genes. This indicated that it could be hereditary, meaning that her family was eligible for screening on the NHS. It also showed that Rachel was at a higher risk of developing other rare cancers, which she is now screened for annually. The new information also helped her doctors to identify which treatments would be the most effective for her.

She says: “Testing has been really helpful to me and my family. It’s been reassuring to be regularly screened for other cancers and to know that my doctors are using the best information available to them to treat me, as sometimes in the past, treatment would make me really sick. It may also be useful for my family to be screened to see if they are more at risk of developing cancer.”

Rachel hopes to take part in a new, clinical trial at Addenbrookes in July, the outcome of which should offer personalised treatment for GIST. She says: “I feel excited about the possibilities of the trial and more positive than I have in a long time. I am hoping it will be the resulting treatment that cures my cancer and that I will finally get better. I’m hopeful too that agreeing to donate my sample to the National Genomic Research Library as part of my genomic sequencing will help researchers to find a cure for all sarcoma one day.”