‘Absolute trauma': Family of 28yo Aussie woman issue plea in rare cancer fight
Janine Aqil has been diagnosed with stage four cancer, but her family say her doctors are unclear on the original source of the tumours and suspect it is a rare form of gene fusion cancer.
'She had countless rounds of chemo but didn't positively respond to it,' her husband Arsalan Aqil told NewsWire.
'Her oncologist said it's a fusion between two genes (FUS and CREN).
'This is her third diagnosis. They first thought it's a bowel cancer, then bile duct cancer, now after more in-depth findings they say it's an unidentified type of gene fusion cancer, which has spread into her liver.
'They need to do more research and study to find out the clues.'
Mrs Aqil's family say the cancer was discovered by a routine blood test, though further tests proved inconclusive before a liver biopsy finally unearthed cancerous cells.
The NSW woman has given up studying to be a teacher's aide. Her husband has stopped working to be his wife's full-time carer, and he himself has been hospitalised 11 times with extreme panic attacks.
'We are going through an absolute trauma,' Mr Aqil said.
He says after his wife's disability payments cover the rent, not much is left even for food, let alone travelling to medical appointments.
'We have several upcoming appointments with different surgeons regarding a possible surgery, but it's not guaranteed as they have never dealt with this type of case before in Australia,' he said.
'All the surgeons want to have consensus and be very sure before going ahead with the surgery, as any error or inaccuracy could be life-threatening.
'We as a family have decided to take my wife overseas for treatment if nothing works out here.'
The couple have sunk into $25,000 of debt and are surviving on food parcels from local charities.
They are now trying to fund a last-ditch trip to the US for more advanced diagnostic attempts, with a rough goal of raising $100,000. Earlier fundraising efforts by Mrs Aqil's mother raised $11,000.
A 2016 study looking at tumours and gene fusions says the prevalence of gene fusions varies widely between cancer types. Gene fusions occur in and frequently drive 90 per cent of all lymphomas, more than half of leukemias, and one-third of soft tissue tumours, a study published in Nucleic Acids Research says.
In prostate cancer, one specific fusion is the most common genetic alteration, being found in over 50 per cent of patients.
However, many recurrent gene fusions occur at low frequencies, such as one specific fusion which is present in 1-2 per cent of lung adenocarcinomas.
Fusion genes are created when one part of the DNA from a chromosome moves to another chromosome. Proteins created by this change may lead to the development of some types of cancer, the US National Cancer Institute says.
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