Trish Rainbow-Noack knew something was seriously wrong when the skin on her hands started peeling off "like bricks".

She was initially told she had lupus, then told she didn't.

"I was so frustrated that these changes were happening, I thought I was a hypochondriac," Ms Rainbow-Noack said.

"Walking, everything I did, it was so hard. I couldn't clean my teeth without having to sit down.

"Washing my hair, I couldn't get my hands up to my hair."

The 57-year-old slowly lost control of her hands which had started to stiffen, her fingers curled inwards and ulcers developed on her fingertips.

She also lost the muscles in her legs; her skin turned hard and lumpy.

Ms Rainbow-Noack works part-time as a government servant in customer relations. ( Supplied: Noack family. )

After 12 months of tests, she was diagnosed in June last year with scleroderma, an autoimmune and musculoskeletal illness that is known as "the disease that turns you into stone".

"I had never heard about it, neither had my GP," Ms Rainbow-Noack said.

"When I first read up about it, I got very teary because it's basically described what I was going through ... what I thought I had been imagining.

"I'm scared because there's a mortality rate, but I've got hope [too]."

It took doctors 12 months to diagnose Ms Rainbow-Noack with scleroderma. ( Supplied: Noack family )

That hope resides in a stem cell therapy program that Ms Rainbow-Noack will begin next week at St Vincent's Hospital in Sydney.

Without treatment she said she only had another three to five years to live.

What is scleroderma?

Scleroderma is a rare disease that affects between 5,000 and 7,000 people in Australia and has no known cure.

Females are more likely to be affected with the disease compared to males at a ratio of five to one.

It occurs when there is an overproduction of collagen in the body affecting connective tissues and leading to a thickening of the skin.

Instead of the collagen trigger switching off as the person ages, the body continues producing collagen in scleroderma patients and scar tissue multiplies rapidly and hardens.

Scleroderma symptoms Tight, shiny skin

Tight, shiny skin Red, blue and white fingers and toes

Red, blue and white fingers and toes Blood vessel changes

Blood vessel changes Chalky skin deposits

Chalky skin deposits Light and dark skin patches

Light and dark skin patches Joint and muscle pain

Joint and muscle pain Heart, kidney and lung problems

Heart, kidney and lung problems Swollen fingers and toes

Swollen fingers and toes Stiff joints Source: Autoimmune Resource and Research Centre

There are two forms of the disease: localised scleroderma that is more common in children which only affects the skin, causing hard and shiny patches; and systemic scleroderma that affects the joints, skin and organs.

Symptoms may include shiny and thickened patches of skin, tightness in joints, swollen fingers and hands, spider veins and gut problems such as difficulty digesting food.

Scarring of the lungs, heart and kidneys can also occur and lead to other complicated health problems.

Dr Maline Squance, chief executive of the Autoimmune Resource and Research Centre (ARRC) and former vice-president of Scleroderma Australia, said it could take a long time to diagnose the illness.

"Some of the symptoms, particularly in the limited form, can look like other diseases and so some doctors can be confused and cautious about diagnosing scleroderma," she said.

"There are some pathology markers but they aren't entirely specific to the illness ... you really have to have those medical symptoms come forward to confirm the diagnosis."

Treatment of the disease

With the right management Dr Squance said she had known patients to live with the disease for up to 40 years compared to old data where life expectancy was reported as being very low.

Some management practices include using moisturising creams to relieve the hardening of the skin and immune-suppressing medications such as methotrexate, non-steroidal anti-inflammatory drugs or corticosteroids to reduce inflammation and pain.

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Current research includes investigations into skin-softening agents like intravenous antibodies, treatment for pulmonary arterial hypertension and ways to reduce gut inflammations, which is a common association with the disease.

The ARRC has also been researching capillaroscopy, an emerging field that looks at capillaries near the cuticle of the nail to identify patients who have Raynaud's phenomenon, which is a symptom of scleroderma and other autoimmune illnesses.

Stem cell therapy was a fairly new field and on the "extreme" end of treatment, Dr Squance said.

Raising awareness

Ms Rainbow-Noack's diagnosis was the first time she and her family had heard of scleroderma and it galvanised them to raise awareness about the disease.

On May 26 her husband Steve and father-in-law, their daughter and son-in-law and Steve's barber, a close friend of the family, set out from their home in Campbelltown in south-west Sydney in an attempt to walk 500,000 steps, or 470 kilometres, to Ariah Park in the New South Wales Riverina region.

They expect to arrive at the finishing point on Wednesday.

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Ms Rainbow-Noack has accompanied the family by riding along in a travelling motor home.

"We felt so helpless, and given we've gone to hospital a few times and for the people at the hospital to not even know about scleroderma, there was obviously not enough awareness about it," Steve Noack said.

The family so far has raised more than $12,000 via a crowdfunding website and other donations which will go towards research by Scleroderma Australia.

Ms Rainbow-Noack said she would not have been able to cope if it wasn't for her family.

"I am so proud, so humbled," she said.

"If all goes well it would be great, but if anything happens I will know that I've had the best family — a father-in-law who looks after me, a husband who has been with me since I was 16 and two amazing daughters.

"Once upon a time cancer had no cure, now there's a huge success rate with cancer, so I'm hoping this disease will one day have a cure."