Shoalhaven News

Rare disease doubly hard for family


This Sunday is Rare Disease Day, an opportunity to raise awareness for the estimated two million Australians living with a rare disease.

Lake Tabourie woman Niele Stas and her 15-year-old son Fletcher are in the even more unusual situation of living with two different forms of the rare auto-immune disease, myositis.

After battling a range of symptoms which baffled medical professionals for nine years, and waking up in hospital after falling into a coma, Niele was pleased to finally have a diagnosis.

She says, when she discovered her son would have to live with a similar life-changing and debilitating condition, she was devastated, but having a support network has helped them both.

"The support network is fantastic," she said.

"Sometime if you don't understand something, you can talk to someone that understands and may had the same experience.

"For Fletcher it was great for him to meet other kids in the same situation."

Myositis is a collective term for rare autoimmune conditions caused by the body’s immune system turning against itself and destroying healthy muscle tissue instead of building new muscle tissue.

In the early stages of the disease, weakened thigh muscled are usually the first sign of trouble.

It makes it difficult to walk any distance, especially up stairs. Standing up from a chair or getting up from the floor
is challenging.

It is not just the large arm and leg muscles affected but can also impact the heart, lungs, swallowing muscles, hands and fingers and lower legs (causing foot drop).

The longer the inflammation persists, (or is allowed to persist) the more damage is caused to the muscles. Over time there can be a significant loss of muscle tissue with a proportional reduction in strength, dexterity and mobility.

The motto for Rare Disease Day is: Rare is many. Rare is strong. Rare is proud! 

Christine Lowe, President, Myositis Association Australia, says the objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on people’s lives. 

“Myositis is when the body’s immune system turns against itself and destroys healthy muscle tissue instead of
building new muscle tissue," she said.

"As you could imagine, it can be quite debilitating in everyday life.”

In February 2020, the Minister for Health launched the National Strategic Action Plan for Rare Diseases
(the Action Plan). 

The Action Plan is the first nationally coordinated effort to address rare diseases in Australia.

A rare disease is one that affects less than five in 10,000 people and there are more than 7,000 different rare diseases.

For more information about Rare Disease Day, see the official website:

Photo supplied.