Friday, November 8, 2024

Drug trial allows man with rare sunlight ‘allergy’ to take first pain-free steps outside

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Life’s simple pleasures are not always so simple.

A stroll on a sunny day or coffee in a winter ray of sunshine were neither simple nor pleasant for Dan Buss. 

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

Ordinary sunlight can cause burning pain, blistering, bloodshot marks to the skin, and even nausea.

“Pretty much instantly, I start to get pain,” Mr Buss said.

“You can be in a patio that has a perfectly good covering, no direct sunlight, however, if there’s a reflection coming off the fence, you’re still getting pain.”

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

“Mum tells a story about her noticing that I was worse in the front of the car instead of the back of the car,” he said.

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

Previously, Mr Buss would prepare to go outside by shielding as much skin from the sun as possible.(ABC Great Southern: Samantha Goerling)

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

It is estimated to impact between one in 75,000 and one in 200,000 people.

“Poor Mum and Dad, they were just out of teenage years, told their son wouldn’t cross the road without paying,” Mr Buss said.

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

“As kids, we didn’t want to leave … we look back and realise it was to get as far south as possible,” he said.

Formative experiences lost

Despite the risk, the sun was always at the front of Mr Buss’s mind.

“I have a memory of watching my best friend playing on the vacant lot next to our house,” Mr Buss said.

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

A man lines up a pool cue.

Mr Buss picked up different hobbies, such as pool, he could pursue away from the sun’s burning rays.(ABC Great Southern: Samantha Goerling)

As the years rolled by, it was adolescent adventures that fell by the wayside.

“I missed out on those really good moments with friends that create memories,” he said.

“Whenever you got a moment, so at night time, with your friends it was almost like you’re always trying to make up ground.

“I was always weighing up between how much pain over the next week do I want to put up with and how much do I want to participate?

“Sometimes I would push through; sometimes I just couldn’t.”

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As the constraints became evident, he adapted, he swapped his sparingly used football boots for a pool cue.

Later, he married his wife Sandra; together they run a successful business, and have had a family of their own.

Despite his accomplishments, Mr Buss was nagged by a question. 

“Was I going to be somebody different? I felt like who 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 green-lit in Australia and would run in Sydney and Melbourne.

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

A white tablet bottle.

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

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

While the temperature was in the mid-30s, Mr Buss decided to venture into the sun.

“It didn’t sting me, but every fibre of me was wanting me to go inside,” he said.

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

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

A man and a woman stand on the deck of their house in Albany.

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

“I stayed out there, I think for up to an hour … I went inside, and we just sat in amazement,” he said.

“Life-changing. 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.

“The thing that drives me the most with this trial is the thought of a child in their early teen years, when it really became apparent to me that it was going to affect my life,” Mr Buss said.

“I want to say to them, get ready, you’ve got a future. You are not going to live like you’re living now. I promise you.”

A women stands near a window.

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

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

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

“For the first time ever, our patients are finding they can actually enjoy a normal life.”

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

For his part, Mr Buss is looking to the future.

“We will plan a holiday, I want to go to somewhere tropical, I want to sit and enjoy the sunlight and the warmth and the beach,” he said.

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