Son's battle inspires mother

Leschenault resident Pam Bianchi's eldest son Domenic was diagnosed with Duchenne muscular dystrophy in 1993 when he was just three years old.

The rare genetic disorder affects one in every 3500 newborn boys, causing slow muscle degeneration which limits overall mobility while also weakening the respiratory system.

At the time of the diagnosis, Pam and her husband Jim were told Domenic would be lucky to live past the age of 18.

"You know where you were, what you were doing," Pam said when reliving the moment she was informed that Domenic had the disorder.

"Even though the diagnosis changes everything in your life, everything still stays the same.

"Life just happens and you have to cope with life as well (as the emotions from the diagnosis)."

Pam - who was a nurse - stopped working so she could stay at home and care for Domenic full-time when he was 10 and lost the ability to walk.

With many people often confusing Duchenne muscular dystrophy for other disorders, Pam joined the Duchenne Foundation - then known as Parent Project Australia - in 2005 to help create awareness.

Starting as an organisation member, Pam quickly moved into a secretary role, before becoming a board member and then the WA director.

After more than a decade with the organisation, Pam now occupies the operations manager's role and is still committed to making others more aware of Duchenne muscular dystrophy.

"Through awareness comes funding and support," Pam said.

"Without that funding and support we cannot continue to do what we do."

The Duchenne Foundation works to help the families of people living with the disorder to acquire vital equipment, including wheelchairs and cough assistance machines.

Pam said the foundation also provided information and support to parents whose children had just been diagnosed.

"Our biggest aim is to also inform parents," she said.

"The more information they get, the more informed decisions they can make."

Now 25, Domenic has exceeded his diagnosed life expectancy and achieved much more.

He has become a passionate DJ - performing under the pseudonym DJ Rolling Dom - and played at many South West venues including the 2013 Groovin' the Moo festival in Bunbury.

He has become a talented photographer, using camera equipment controlled by a tablet to help overcome his restricted movement to capture many shots which depict the region's vast landscape.

On top of his many accomplishments, Pam and Jim were made even prouder of Domenic earlier this year when he married his girlfriend Kathy.

The couple tied the knot in an intimate ceremony, with Domenic's younger brother Nicholas and close friend Daniel by his side.

Pam said she hoped Domenic's triumphs would be influential to those who are battling Duchenne muscular dystrophy.

"He has got married for crying out loud. I think other parents are going to find that very inspirational," she said.

"It's something none of us really envisaged and I guess that's what makes it so special."

Now Pam has finished helping to plan Domenic and Kathy's wedding, she is busy organising the Duchenne Foundation's annual Gala Blue Ball at the Hyatt Regency in Perth on August 20.