The disease is a rare metabolic disorder that damages nerve and muscle cells.

There is no permanent cure and on-going treatment is expensive but the federal government's Life Saving Drugs Program has helped the 20-year-old manage the disease.

Kiama Birrer is one of two patients being treated at Bendigo Health for Pompe Disease.

"It started with muscle weakness but I went to the doctors because of yellow in my eyes. After a few tests I ended up having a muscle biopsy which showed Pompe Disease," she said.

"The disease builds up glycogen and the muscle can't break it down. It's fatal for newborns. I'm lucky to be able to work and play sport still but some people I have heard from can't walk, need help to breathe."

The disease was passed on through Kiama's parents, who were carriers of the abnormal gene. Both were unaware of their genetic makeup until after their daughter was diagnosed.

Kiama undergoes a five-hour enzyme-replacement infusion every fortnight at Bendigo Health. Her treatment in Bendigo saves her from travelling to Melbourne regularly and has left her optimistic about the future.

"My initial reaction was shock. I thought 'why me, I'm only 17'. (But) what's already been done can't be undone," she said. "I'm very grateful for this new treatment. I can see a difference in my body, I can run without my legs giving way. There's less muscle fatigue and a higher life expectancy."

Kiama will nee the fortnightly treatment for the rest of her life but she hopes to raise awareness for the disease in the future.

"There's people much worse than me," she said. "There's heaps of research going on but not much funding because it's not a well-known disease and not many people have it.

"We have the Pompe Association and meet up every two years. It's good to meet different people and hear their stories. I've got a lot of knowledge from that.

"It wasn't until I met them I thought how lucky I am. I saw people not able to talk without gasping for air, people who had aids and couldn't use stairs."

"I thinks it's very important for infants to be tested. They can be diagnosed from their first week and start treatment in the first to weeks."

Have you signed up to the Bendigo Advertiser's daily newsletter and breaking news emails? You can register below and make sure you are up to date with everything that's happening in central Victoria.