Teenager refuses to be defined by rare disease

Wednesday, May 29, 2019
Kiama Birrer Bendigo Health patient Kiama Birrer has a fortnightly enzyme replacement infusion at Bendigo Health.
Around 60 Australians suffer from Pompe Disease - a rare metabolic disorder which damages muscle and nerve cells.

As a 13-year-old Kiama Birrer’s legs began to give way during netball matches.

Soreness and unusual tiredness prevailed, which her parents attributed to growing pains and a poor diet.

Months passed and the symptoms worsened, with Kiama feinting after matches, her eyes beginning to yellow.

“Young girls shouldn’t have yellow eyes, but we couldn’t figure out what was wrong with her,” mother Toni said.

At 17, Kiama was diagnosed with Pompe Disease, an extremely rare metabolic disorder which damages muscle and nerve cells throughout the body.

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.

“We just felt very alone and I just felt very guilty because I had given her this disease. I still deal with it, I feel so mean,” Toni said.

“Mentally it was a struggle and to think there’s not a lot of people that have it, you start to think ‘is she going to survive’?”

People living with the incurable disease have an average life expectancy of 65, a fact Kiama initially found extremely daunting.

“It was very tough at the start, a lot of tears. I was thinking ‘why me’, I was struggling at school and very tired. I had a lot of time off,” Kiama said.

Fewer than 60 people across Australia live with Pompe Disease, two of whom come from Central Victoria and the surrounding region.

Kiama, from Cohuna, used to travel to Melbourne to have her fortnightly five-hour infusion of an enzyme replacement therapy drug, but two years ago Bendigo Health agreed to mix the drug locally to support Kiama and her family.

At $25,000 a go, the infusion is not cheap. But fortunately for Kiama’s family it’s fully subsidised under the Federal Government’s Life Saving Drugs Program.

The drugs have helped Kiama, 19, live a normal life. She continues to play netball and works.

“It took me a while to accept that it’s for life and it’s not going to go away. It doesn’t matter how much of the drugs you have, you still need more every two weeks,” she said.

The Birrer family hope to raise the profile of the less well-known disease, and have suggested newborn or pregnancy screening might better prepare families.

Pompe Disease can manifest at a number of stages of life, infantile Pompe Disease is fatal, while adolescent and mature Pompe Disease are more manageable, but still incurable.

The family hope greater awareness and more funding for research could provide a more efficient way of administering the drug, or perhaps even a cure.