Carers Week: Fighting to help others

MANDY’S two sons were teenagers on the cusp of independence when they were diagnosed with a rare genetic disease.

Timmy, 17, was in his final year of school, while Matthew, 19, was at the beginning of his working life.

As a mother, Mandy from Benalla had always played a caring role in her boys lives, but when they were both diagnosed with Niemann Pick Type-C (NP-C), sometimes referred to as childhood Alzheimers, it took on another dimension.

“It was a big change, you have a life plan, you have your beautiful children, you love them and you see them grow up and watch them go into the community.

“There’s a big grieving process: I had to become their mum, their friend, their carer.”

NP-C is an incredibly rare genetic disease affecting about 1 in 95,000 births and when Mandy’s sons were diagnosed there was very little in the way of support available.

Doctors told her to go home and “make memories” because there was nothing they could offer her boys but Mandy refused to give up.

“I don’t take lightly to being told that so I put my head in the sand and my bum up and thought I’m going to fight it,” Mandy said.

Two years after the diagnosis, Mandy started the Australian NPC Disease Foundation Inc to provide support for other families who had received a diagnosis in Australia.

“I didn’t want anyone else to have to go through what I did on my own and have no one to speak to,” she said.

The organisation has also raised more than $500,000 for medical research at the Florey Institute in Melbourne.

They started small with Bunnings BBQ and cake stalls before holding their first charity gala event in 2019.

“ I know that our Foundation’s research is not going to help my boys, as sadly time won't be on our side, but it’ll help other families who are newly or yet to be diagnosed,” Mandy said.

“We'll have better treatment options: we’ve already got trials coming to Australia now, because of our work, that is helping other families.”

• This month is Australian NPC Disease Foundation Inc Awareness month visit: npcd.org.au for more information.

• Tickets have also just been released for the organisation’s key fundraising event, the NPC Gala, at Flemington Racecourse on February 3. Bookings here: https://www.npcd.org.au/gala