Sue Armstrong meets Pan Pantziarka, whose son George had Li–Fraumeni syndrome and lived with cancer from early childhood.

One of the bleakest moments in Pan Pantziarka’s long struggle with Li–Fraumeni syndrome was when doctors at Great Ormond Street Hospital in London told him there was nothing more they could do for his little boy. They had exhausted all options for treating his son’s cancer, “and at the age of four George was sent home to die,” he says.

George had been diagnosed at the age of two with rhabdomyosarcoma, a rare tumour of muscle tissue that appeared as a hard lump beside one eye. He had been through several bouts of surgery and many rounds of chemotherapy, and then radiotherapy as the original tumour returned, but nothing would shift the last traces of his disease, and his prospects looked grim.

In fact, George had 11 years of remission and regular childhood, and his family’s paralysing anxiety was beginning to lift. Then, he developed skin cancer. His doctors attributed the small lesion behind his ear to the radiotherapy he had received a decade earlier.

At this stage, no one except his father was prepared to link George’s cancer to his mother’s death from ovarian cancer just a year after he was born. For such a long time, says Pantziarka, “the mindset was just that we were an incredibly unlucky family”. It was not until George developed a third cancer, in his jawbone, within months of his skin cancer diagnosis, that alarm bells began to ring. The family was sent for genetic testing, and they heard of Li–Fraumeni syndrome for the first time. George, it transpired, had a mutant copy of p53, most likely inherited from his mother, and was extraordinarily susceptible to cancer.

While it was a relief to know at last what they were up against, the diagnosis of Li–Fraumeni was devastating. “The level of paranoia is just unbelievable,” says Pantziarka. “A child comes down with a bit of a cough, and most parents think, ‘Oh, it’s just a chill’. But for a Li–Fraumeni family every cough could be the harbinger of something terrible. The paranoia is isolating. But even more isolating is the fact that many of the professionals they come into contact with – you know, GPs, school nurses – have no understanding of what this is.”

Pantziarka was worried too about his daughter, Despina, seven years older than George: was she also a carrier of the mutant gene? The wait for her results was gruelling, but the news was good. For George, however, things got steadily worse. Within two years of developing osteosarcoma in his jaw, he had reached the end of the road again with conventional therapy. But he refused to give up hope. He and his father travelled to China, where novel ideas for treating cancer were being trialled. The expedition – involving interminable journeys on trains, planes and local buses for the very sick boy, tedious weeks in spartan accommodation and cheerless hospitals, the loneliness of an alien culture, and mighty struggles to communicate – sapped the strength and morale of father and son. And in the end it was too late for George. He returned home even more ravaged by disease and now suffering the side-effects of his many treatments, including a dropped foot from nerves damaged by the therapy. He died in 2011 at the age of 17.

“Most people, when they hear my family’s story, think it’s absolutely horrendous,” says Pantziarka. “But actually it’s not untypical of Li–Fraumeni syndrome. There are families in crisis, and then there are families who are waiting for the next crisis… It’s horrible, it really is.”

Since George’s death, Pantziarka, a data scientist by training, has used the expertise he developed from voracious reading about his son’s condition to apply his skills to cancer. Today he works for a non-profit foundation, the Anticancer Fund, set up by medics and scientists to encourage research into promising new treatments for cancer – especially the repurposing of existing drugs – that are ignored by pharmaceutical companies because they are a poor financial proposition. The Fund also offers direct support to patients, helping them to navigate the wealth of information on treatments and understand the best options for themselves.

Pantziarka is coordinator of the repurposing drugs project. “When we first started talking to people it felt like we were banging on a closed door,” he says. But as word has spread about trials with drugs like metformin, originally designed to treat diabetes and now being tested against cancer, things have begun to change. “It feels like we’ve turned a corner and there’s a massively increased interest in this idea.”

An extra from Brazil’s cancer curse

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