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Family who dismissed ‘weird marks’ on a wife’s head before she died from an ultra-rare disease

A fit, avid sailor died just weeks after mysterious marks began appearing on her body, with no clue that they indicated a rare and fatal disease. 

Sydney woman Marcia Ferguson-Roa, 59, developed a persistent dry cough when she started to feel more lethargic than usual last October.

Then ‘weird’ ulcerating marks suddenly appeared on her forehead and other parts of her body.

Doctors had no answers until late November when she was rushed to St Vincent’s Hospital in Sydney, where she was diagnosed with a rare autoimmune disease called dermatomyositis, which affects nine in a million people worldwide. 

Heartbroken husband Kris Ferguson recalled his last happy memory of his wife of almost 40 years, around the time she was diagnosed.

Marcia Ferguson-Roa (right) was an avid traveller and sailor before she was struck down with a rare disease which claimed her life four months ago. She’s pictured with husband Kris on a trip in Uluru in 2017

‘She was watching (the movie) Out of Africa eating Chilean chicken soup and looking like a million dollars,’ Mr Ferguson told the Sydney Morning Herald.

Later that night he sent her a text message which he could not have guessed would be the last one she would ever read from him.

‘I told her I loved her and that we would talk tomorrow. There was no tomorrow,’ he said. 

Ms Ferguson-Roa’s condition rapidly deteriorated overnight, forcing doctors to place her in a medically-induced coma.

Her family snuck in her beloved greyhound Matilda via the hospital’s fire escape for a final goodbye before Marcia died, just a week after being diagnosed.

Dermatomyositis is a variant of myositis, a broad term for any condition that causes muscle inflammation.

Ms Ferguson-Roa had an uncommon and more life-threatening form called MDA5 antibody-positive dermatomyositis, which often affects the lungs and is harder to diagnose.

Malaysian construction engineer Khaidir Abu Jalil, 34, spent much of 2020 critically ill with the same rare variation of the disease at St Vincent’s Hospital while in Australia on a working visa.

He has since been discharged from hospital and is on the road to recovery as he continues to seek treatment in Australia. 

Marcia Ferguson-Roa, 59, (pictured right) was admitted to hospital in late November, where she was diagnosed with a rare autoimmune disease called dermatomyositis. Her condition rapidly deteriorated and was placed in a medically-induced coma before she died a week later

Marcia Ferguson-Roa, 59, (pictured right) was admitted to hospital in late November, where she was diagnosed with a rare autoimmune disease called dermatomyositis. Her condition rapidly deteriorated and was placed in a medically-induced coma before she died a week later

Between nine and 50 people per million worldwide have a form of myositis, according to the Myositis Association Australia.

The underlying cause of this group of inflammatory muscle conditions is unknown.

The muscle cannot be regenerated once its gone, which can result in a progressive and cumulative loss of muscle that leads to a state of weakness and disability. 

Symptoms include pain, fatigue, trouble swallowing, shortness of breath, lung disease, fevers, and weight loss.

‘Patients often have difficulty climbing stairs, rising from a seated position, turning over in bed, raising their arms over their head and grasping items with their hands, and many become prone to unexpected falls,’ the Myositis Association-Australia Inc states on its website.

Many symptoms appear gradually, over months or years – or like Ms Ferguson-Roa’s case, develop rapidly within days or weeks.

Marcia Ferguson-Roa (left) developed a  persistent dry cough before 'weird' ulcerating marks suddenly appeared on her forehead and on other parts of her body

Marcia Ferguson-Roa (left) developed a  persistent dry cough before ‘weird’ ulcerating marks suddenly appeared on her forehead and on other parts of her body

Some patients were initially diagnosed with motor neurone disease or muscular dystrophy, and others simply put early symptoms put down to ageing.

‘The average time to diagnosis is around five years,’ Myositis Association Australia president Christine Lowe told newsGP.

‘Patients diagnosed with the treatable forms of dermatomyositis, polymyositis or necrotising are known to respond more quickly if treated early in the disease.

‘Those diagnosed with IBM, for which there is no current treatment, will cope better overall if they’re encouraged to undertake and maintain daily exercise from an early point.’  

St Vincent’s Hospital is now looking into dedicating more research into autoimmune diseases to find out why the body attacks its own tissue.

Read more at DailyMail.co.uk