Highlighting porphyria this Rare Diseases Day

The RMH is not only home to Australia’s only multidisciplinary clinic for porphyria, we’re the state’s only testing centre for the condition.

Porphyria is a build-up of a chemical called porphyrins in the body. Porphyrins are needed to make red blood cells, which carry oxygen to the body’s organs and tissues.

Some people with porphyria may have pain when they go out in the sun, which is why you may know porphyria as “the vampire disease” or the “Bubble Boy syndrome”. The RMH Dermatologist A/Prof Gayle Ross is quick to correct that preconception.

"There’s actually eight different types of porphyria, so not all ‘look’ the same way," she said.

"Porphyria can be difficult to diagnose as some people look completely normal when they present to their doctor or the emergency department, but complain of pain on their skin or in their abdominal region."

Diagnosis of porphyria is complex, and requires special equipment and different tests to get an accurate diagnosis. Blood, urine and faecal samples for the tests need to be transported wrapped in foil as to preserve them. This means people with porphyria may have to wait years for a diagnosis, which can be frustrating and isolating.

"Although living with porphyria is challenging, we’re so glad to be able to give people an accurate diagnosis after what can be years of waiting," Yoke said.

Gayle also remarked new treatments being currently trialled at the RMH are giving people living with porphyria new hope.

"We’re currently trialling new medication at the moment which allows people living with porphyria the opportunity to spend more time in the sun than they usually would have been able to previously," she said.

"This means for some people, they’re able to finally enjoy an Australian summer outdoors."