Malini Raj’s struggle to get her Cushing’s disease diagnosis amid calls for more government funding

Malini Raj has lived with pain for 20 years and she’s been to every doctor — she was even once misdiagnosed with leukaemia. She has a rare disease and wants the government to act.

It took an agonising 20 years before a specialist could finally diagnose what was leaving corporate high-flyer Malini Raj in such agonising pain.

“I have just always been unwell, I just couldn’t pinpoint what was going on. I went to every ologist, like literally every ologist, like gastroenterologist, immunologist, haematologist, gynaecologist, endocrinologist, cardiologists, psychologists, natural practitioners, allied health,” the 43-year-old banking executive said.

“There were so many ambiguous symptoms … I tried everything.”

Sometimes a diagnosis would come along – polycystic ovarian syndrome, coeliac disease, Hashimoto’s disease, hypothyroidism, irritable bowel syndrome or insulin resistance. She was even diagnosed with leukaemia at one point.

Watch the video above to learn more about Malini’s story.

Malini Raj, from Sydney, suffers from Cushing’s disease. Picture: Supplied

Ms Raj finally learned she had Cushing’s disease – a rare pituitary condition – after a haematologist addressing questions about the leukaemia diagnosis suggested she might have it.

Ms Raj, who spends up to $70,000 a year on medical bills, is one of up to 1600 Australians diagnosed with the rare condition, with experts warning thousands more could potentially be suffering without a diagnosis.

Malini Raj recovers in hospital after brain surgery. Picture: Supplied

Malini Raj in hospital after her second brain surgery in St Vincent's Hospital in Sydney in 2018. Picture: Supplied

Cushing’s disease occurs when your body is exposed to high levels of the steroid hormone cortisol. It made headlines earlier this year when actor Amy Schumer revealed her diagnosis.

US actress and comedian Amy Schumer has Cushing’s disease. Picture: Getty

Causes include a pituitary tumour that causes the body to make excess adrenocorticotropic hormone (ACTH), which in turn leads the adrenal glands to produce too much cortisol.

Pituitary tumours can also affect patients with rheumatoid arthritis and a brain injury like Chronic Traumatic Encephalopathy (CTE).

Medical experts and sufferers have now joined voices calling on better training of GPs to spot warning signs and more funding for specialists with some patients forced to wait on average 12 months for surgery.

Malini Raj in a consultation at St Vincent's Hospital in Sydney in 2018. Picture: Supplied

Malini Raj in hospital after her second brain surgery in St Vincent's Hospital in Sydney in 2018. Picture: Supplied

Endocrine Society of Australia President Professor Ann McCormack said it’s hoped the establishment of a National Pituitary Disease Registry is the crucial first step of getting sufferers medical help they are not getting.

“We can’t prove to the government, we can’t prove to anyone what is needed because the data just isn’t here in Australia,” Prof McCormack, who is based at St Vincent’s Hospital’s Department of Endocrinology in Sydney, and also leads the Hormones and Cancer Group at the Garvan Institute of Medical Research.

Professor Ann McCormack, who is based at St Vincent’s Hospital’s Department of Endocrinology in Sydney. Picture: Supplied

Malini Raj on her wedding day in 2014 when she was unwell living with undiagnosed Cushing's disease and had a larger, round face as one of her symptoms. It was after her first failed brain surgery in 2013. Picture: Supplied

She built the Garvan’s biobank of patient tumour samples for research, but limited funding means the research stops.

“If you knew exactly how many people have it, then you could make much more of a case [for things like funding for research, clinical trials and PBS listing for medications].

“They automatically discount you because you’ve got no data, and that’s one of the things that we’re trying to change. When you’ve got good, hard data you can make more of a case,” Prof McCormack said.

An anonymous Melbourne man bequeathed his entire estate to the Endocrine Society of Australia, enabling them to make the registry a reality.

“We need government funding for all of these things that we need. We need nurses. We need probably more surgical fellows. We need training pathways,” she said.

“We need more funding for research. We have to get that buy-in from the government. But we haven’t got the data so it’s a hard fight.”

In the last 43 years, the National Health and Medical Research Council (NHMRC) spent just $1 million on four research grants for pituitary related tumours or cancer.

In the last 23 years, the NHMRC said it had spent just over $20 million on 32 research grants for pituitary disease, but it was “unclear whether all of these grants are directly relevant to pituitary diseases or disorders”.

To donate and for information, go to the Australian Pituitary Foundation.