Living with Li-Fraumeni syndrome: 'I've had cancer twice and lost three family members to the disease'

Sophie Power, 32, has a rare genetic condition that comes with a 90% chance of developing certain types of cancer by the age of 60. She's already had cancer twice and sadly lost her brother, mum and grandma to the disease. Here she explains why she is determined to live life to the full.

"I don’t ever want to get to a point where I feel I should have done something more, or that I had an opportunity I didn’t take. My brother never had that chance, so I feel like I owe that to him," says Sophie, from Staffordshire.

Before they had even heard of Li-Fraumeni syndrome, Sophie was the first in her immediate family to be diagnosed with cancer at just five years old in August 1996, followed by her brother at the same age a couple of years later.

It all started when Sophie's reception teacher raised concerns to her parents about her eye and one side of her face drooping. After having some scans done, within days she was referred to hospital. Horner's syndrome (another rare condition affecting the eye) was picked up first, which then led to the cancer diagnosis.

Cancer in the family

"I had a neuroblastoma [a childhood cancer that typically starts in the tummy] and my brother had a brain tumour. He was diagnosed when he was also five and passed away when he was seven in 2001. Soon after losing him, my Mum and Nan were diagnosed with breast cancer, which they recovered from but then developed secondary cancers.

"It was all very quick.”

Power’s Mum Michelle was diagnosed at 31 and died at 39 in 2010, when she was just 18, three months before going to university. Her Grandma Jenny then later died in 2014.

Since her own diagnosis at five, Sophie only officially went into remission at around 24. In January last year (after first getting scan results the Christmas before), she was officially diagnosed with breast cancer at 31, just like her mum. She is now thankfully starting this new year cancer-free, though the risk of it affecting her again remains.

Diagnosing Li-Fraumeni syndrome

Sophie’s family found out about Li-Fraumeni syndrome (causing the high cancer risk on her mum's side) quite late.

"There were a lot of patterns that nobody could really quite work out what was going on," she recalls.

"Once my Mum and my Nan were diagnosed with cancer, we started piecing it all together. There had been other relatives who'd also had the disease."

It was only after her brother passed away, that her mum and nan had genetic testing. "When it was identified in our family in the early 2000s we were one of only a few hundred families worldwide. It's still not massively known but it's better than it was [there's now 500-700 known people in the UK alone, though likely more undiagnosed]."

Sophie was only formally tested and diagnosed with Li-Fraumeni syndrome three years ago. Some members of the family on her mum's side have chosen not to be tested.

"My cancer earlier in the year was thankfully caught really early due to all my screenings from knowing I have Li-Fraumeni. It was just a case of some surgery so I'm back to normal now," she says.

Sophie now has annual MRI scans to check her brain and body. "I also know my own body so well now. I'm not a hypochondriac in the slightest, because if I have a cold or something, I'll just crack on because I know I've had a lot worse."

What the diagnosis means

Unfortunately, there aren't any treatments to cure Li-Fraumeni syndrome or lower the cancer risk it comes with (though one trial is now looking into this).

"All l I feel like my diagnosis has done, especially now that I'm married and a little bit older, is give me some options to consider if I wanted to have kids. It's just helped me plan my life a little bit better. And obviously there's the increased screenings."

Sophie and her supportive husband Joe have both decided neither of them want children enough to try the options available. "The geneticist ran through everything with us. And we both looked at each other and said, 'Every one of those just sounds awful. Either for me or the baby'.

"But aside from that, it's not really one of those diagnoses that you can treat."

Where possible, for some with LFS who develop cancer, radiation should be avoided, though this is on a case-by-case basis. Instead of following her breast cancer surgery with radiotherapy, Sophie is on hormone therapy, and unbeknownst to her family or their medical team at the time, the radiation her little brother had sadly ended up multiplying his cancer cells.

Dealing with Li-Fraumeni and cancer

"People are always surprised at how casually I can talk about it. From my perspective, I've never known any different," says Sophie. While she has always been labelled as ill, she sees she has only been unwell as a result of treatment and recovering from surgeries.

"When I was finally put into remission the first time, I did feel a bit weird because I'd never not been 'Sophie with cancer'. And so when I was diagnosed earlier in the year, I kind of like fell back into it. I was like, 'This is just what happens.'

"When we went into what everybody calls 'the crying room', and there was the box of tissues on the side, this consultant sat down and told me it was cancer in a softly spoken voice. And I was like, "Okay, what do you need to do next?"

While Sophie doesn't see what she deals with as her whole identity, she acknowledges she would be a very different person without it and the person she has the most sympathy for is her dad Mik.

"The rest of us were all going through it together. When me and my brother had cancer at the same time they actually used to put us in a room next to each other to have chemo over the weekend. But my dad just had to watch it all happen," she recalls, before joking: "We were the weird family that all had an appointment at the same time. It was like being in a strange little gang that nobody really wanted to be in."

Support from others

Firstly, Sophie hates being fussed over. "I am independent to my own detriment at times," she says, admitting she even refrained from telling family members about her breast cancer diagnosis for not wanting to worry them.

But while she has her husband, her dad will always be a good source of support too.

"I think it's one of those where you've just got a bond that nobody else has. No one else has experienced the same things that we have," she explains.

Now, her husband has taken on the role of ferrying her to the hospital and being there for her surgeries, which she acknowledges her dad probably struggles with, him offering anything he can to help.

"While I have accepted I have Li-Fraumeni Syndrome," says Sophie, "when I met my husband, I realised that's a lot for somebody else to take on." When they first started dating, she feared having to tell him over dinner, 'You're going to have to spend your life in an oncology unit.' But thankfully, after a sneaky Google, he'd seen some cancer charity work she'd done online and already knew everything.

"He is amazing. It doesn't matter to him whatsoever."

In terms of telling others, after everyone knowing her situation in school, Sophie chooses who she talks about her condition with. "University was a fresh slate. People knew I had lost my mum, but I wasn't ill and could appear to be absolutely fine. My really close friends from uni onwards know, but otherwise, I don't make a point of telling people unless it comes up, or I need to."

Sophie, deputy head of a PR agency, says her colleagues were particularly supportive with her breast cancer earlier this year. "I'm a massive workaholic. My career's like my baby. So a week after surgery, I was determined to be back on my laptop and they texted my husband saying, 'Do not let her!'"

Protecting her mental health

Between navigating her own health and grief, Sophie has obviously dealt with a huge amount.

"I think I've struggled more this last time with cancer because my mum was also diagnosed at 31. It's the little things like going into the oncology unit and everybody is like, 'Oh, you're far too young to be here.'

"I've heard that so many times. But I am here and it's hard not to feel like it's history repeating itself.

"As much as I try not to think about it, there is that little bit in my head that's thinking my Mum went at 39, so I've now got seven years left potentially. I think there's going to be that timer in my head.

"But generally, I just keep myself busy."

Sophie says she has received some psychological support, but despite her resilience, understandably still deals with anxiety. "I do struggle with that and I've had CBT therapy and hypnotherapy," she says.

Living for two

Along with her positive attitude, Sophie makes each day count.

"The one thing I've always wanted to be is normal. Yes, I've got to get some scans still each year, but I can live like any other 32-year-old," she says.

"If the worst should happen in a few years, I don't want to ever think, 'I should have done this or that.'

"I think it's all about just throwing myself into life."

And her brother is one of her biggest driving forces. "I was nine when my brother passed. And we were very close. And as much as I've had therapy and everybody always says it's not my fault, I deal with a lot of guilt about him. He never got to do all of the things that I've got to do.

"So with all the experiences I have, like travelling the world, I feel like I'm doing it for him because he couldn't. He would have just turned 30. I'm always doing stuff for both of us."

She feels grateful for the life opportunities she's had so far. "My parents were told that I wouldn't make it to secondary school. Then when I had my surgery at 13, they said I probably wouldn't make it to university.

"Obviously there's been medical intervention, but I think I've just been determined that if people say I'm not going to be able to do something, it makes me want to do it more.

"I always have a next goal in mind."

To find out more about Li-Fraumeni syndrome, see our expert-led explainer:

What is Li-Fraumeni syndrome? Testing, treatments and coping with an up to 90% cancer risk