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Erythropoietic protoporphyria kept man out of the sun for 50 years, but an experimental drug helps

The simple pleasures in life are not always so simple.

A walk on a sunny day or a coffee under a ray of winter sunshine were neither easy nor pleasant for Dan Buss.

He has a rare genetic condition that involves extreme sensitivity to visible light, which affects the skin and nervous system.

Ordinary sunlight can cause burning, blisters, bloodshot marks on the skin, and even nausea.

“Almost instantly I start feeling pain,” Buss said.

“You can be in a yard that has a perfectly good cover, with no direct sunlight, yet if there is a reflection coming from the fence, you still feel pain.”

Long before he could speak, his parents knew something was wrong.

“Mom tells a story about how she realized I was worse off in the front of the car instead of the back,” he said.

“Because there was more sunlight coming in through the front window.”

A man stands near a window, wearing a hat and face covering.

Previously, Buss prepared to go out by protecting as much skin as possible from the sun.(ABC Great South: Samantha Goerling)

After months of consulting doctors, at the age of two a dermatologist diagnosed him with erythropoietic protoporphyria (EPP).

It is estimated that it will affect between one in 75,000 and one in 200,000 people.

“Poor mom and dad, just out of their teens, they were told their son wouldn’t cross the street without paying,” Mr. Buss said.

When her sister was diagnosed with the same condition, the family moved from Manjimup to Albany in search of cloudier conditions.

“When we were kids, we didn’t want to leave…we look back and realize it was about getting as far south as we could,” he said.

Lost training experiences

Despite the risk, the sun was always on Mr. Buss’s mind.

“I remember watching my best friend play in the vacant lot next to our house,” Mr. Buss said.

“The sun was shining and I was asking Mom, ‘Why can’t I go out and play with him?’ And mom explains to you that that’s how it is, that you’ll have to wait until later in the evening.”

A man lines up a pool cue.

Mr. Buss acquired different hobbies, such as billiards, which he could practice away from the burning rays of the sun.(ABC Great South: Samantha Goerling)

As the years passed, it was the adventures of adolescence that fell by the wayside.

“I missed those really good times with friends that make memories,” he said.

“Every time you had a moment, at night, with your friends it was almost like you were always trying to make up ground.

“I was always weighing how much pain I want to endure over the next week and how much I want to participate.

“Sometimes I kept going; sometimes I just couldn’t.”

Charging…

When limitations became apparent, he adapted and traded in his rarely used soccer cleats for a pool cue.

He later married his wife Sandra; Together they run a successful business and have had their own family.

Despite his achievements, Mr. Buss was plagued by one question.

“Was I going to be someone different? I felt like I am now, I don’t think I was meant to be that person.”

An experimental drug

Then, in 2022, a trial for a possible treatment was given the green light in Australia and would take place in Sydney and Melbourne.

After 50 years avoiding the sun, Buss began the trial at the Royal Melbourne Hospital (RMH) with low expectations.

A white bottle of tablets.

Bitopertin is an investigational drug developed by Disc Medicine as a possible treatment for erythropoietic protoporphyria.(ABC Great South: Samantha Goerling)

After the first session, he and his wife flew back to Washington and had a family barbecue.

As the temperature hovered around 30 degrees, Mr. Buss decided to venture out into the sun.

“It didn’t sting me, but every fiber of me wanted it to go in,” he said.

“I had to literally hold on to the balustrade to stay out there.”

While his family urged caution, he took off his shirt.

A man and a woman are on the terrace of their house in Albany.

Dan Buss with his wife Sandra at their Albany home.(ABC Great South: Samantha Goerling)

“I stayed out there, I think up to an hour… I walked in and we sat there amazed,” he said.

“It changed my life. It really happened that day.”

Since then, he has been able to spend hours in the sun and continued to travel regularly to RMH for treatment.

“What motivates me most about this essay is thinking about a boy in his early teens, when it really became apparent to me that it was going to affect my life,” Mr. Buss said.

“I want to tell you: get ready, you have a future. You are not going to live like you are living now. I promise you that.”

A woman stands near a window.

Royal Melbourne Hospital dermatologist Gayle Ross says almost all participants report improvements in their quality of life.(Supplied: Royal Melbourne Hospital)

RMH senior dermatologist Gayle Ross said the trial results had been unparalleled in her career.

“I’ve been seeing patients with this condition for 20 years and I’ve never seen anything like this,” Dr. Ross said.

“For the first time, our patients discover that they can truly enjoy a normal life.”

The Australian trial is ongoing and, due to its success, another has been launched in the United States.

For his part, Buss looks to the future.

“We’ll plan a vacation. I want to go somewhere tropical, I want to sit and enjoy the sunshine, the warmth and the beach,” she said.

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