After a lifetime in the shadows, Dan can finally see the light

The dad from Western Australia suffers from a rare disease called erythropoietic protoporphyria (EPP).

Porphyria is a group of rare disorders that affect the skin and nervous system. Patients like Dan who have EPP have an extreme sensitivity to sunlight, meaning they have to avoid the sun to stay symptom-free.

“I spent my life shadow jumping and observing, but never able to live my life,” Dan, who was diagnosed at age three, said.

But a trial led by the Royal Melbourne Hospital (RMH) is helping Dan step into the light and live free of fear. The RMH is home to Australia’s only multidisciplinary clinic for porphyria, and is Victoria’s only testing centre for the condition.

Growing up, Dan endured severe symptoms, making even a glimpse of sun through a window a painful experience.

“I would feel nauseous and in a lot of pain, I just couldn’t be anywhere near sunlight at all, as soon as I was exposed, I immediately felt the symptoms,” Dan said.

It has been a long wait, but almost 45 years since his diagnosis there is hope for Dan with the trial showing positive results at treating the condition. Called Disc 1459, the trial is using Bitopertin to reduce protoporphyrin levels.

“I take two tablets a day, and ever since I started the trial I have been able to spend time in the sun with no symptoms,” Dan said.

Dermatologist A/Prof Gayle Ross said she was thrilled to see the success the medication is having on those involved in the trial. It’s the first trial of its kind in the world, with the RMH leading the study.

“The trial here is proving a great success,” A/Prof Ross said.

“It has been life-changing for those with this condition. For most of them it is the first time they have been able to enjoy an Australian summer.”

A/Prof Ross said so far, nearly all participants reported improvements in quality of life and everyone had been able to enjoy time in the sun.

The trial is now underway in the US following its success in Australia, offering hope and potential relief for many others affected by EPP Porphyria worldwide.