The Discovery That Changed My Life

For Rocco Falchetto, stepping into the sun was extremely painful. Then one day, everything changed.

When Rocco Falchetto was a child, he developed a fear of sunlight. And with good reason – diagnosed with an ultra-rare disease which causes extreme light sensitivity, when his skin was exposed to the sun’s rays, he would be left in agonizing pain.

Rocco, who is a Director in NIBR Analytical Sciences & Imaging at Novartis, is just one of the about 10,000 people living with erythropoietic protoporphyria (EPP), a rare metabolic disorder which results in phototoxic reactions being triggered by certain kinds of artificial light and sunlight, for which sunscreens are ineffective.

“As a patient this is all very life-limiting,” he tells. “You have to work your life around the light conditions to try and protect yourself. It impacts everything – your professional life, social life, family life – and everything around you also has to adapt to your condition.”

An invisible disease, EPP is often misdiagnosed for years as an allergy or a mental health issue, causing patients trauma as they are forced to spend springtime and summers covered in protective clothing, gloves, hats and sometimes even face masks, rather than shorts and T-shirts.

Increasingly, he avoided being outside, hiding from both the glare of the sun and judgmental looks of others.

As he shaped his life around EPP, Rocco gravitated towards science, studying biochemistry and then moving into the pharmaceutical industry, joining Novartis 23 years ago.

“Everything I did was influenced by the disease. As a kid you ask yourself, ‘Why me? What causes this?’ I developed a thirst for scientific knowledge, as it is the domain of answers.”

Despite working in research, he chose not to focus in his own disease as it simply felt too personal, however, he spent some of his spare time looking for new treatment options.

“I was always on the lookout for treatments – I tried all kinds of remedies and nothing ever worked. Then, one day I saw that an Australian pharmaceutical company was making a product for another condition, and I immediately wondered if it could help us EPP patients.”

At that time, all Rocco knew about the compound was that it stimulated the natural pigmentation of the skin.

“When you go into the sun, you develop a tan – it’s the natural mechanism to protect us from the harmful effects of light. This company had modified the hormone that triggers the pigmentation so that it was in pharmaceutical form.”

After speaking to his doctor, a porphyria specialist in Switzerland, things started to snowball. Within just a few months she had organized the first clinical trials and Rocco was enrolled as one the first five EPP patients to receive the medicine.

The results were immediate. “What I experienced was nothing short of amazing – it was a miracle. When I finally gathered my courage and exposed myself to the sun, I realized the treatment was working.

The effect on his life was equally remarkable. “It changed everything; finding out at the age of 41 that the sun doesn't only mean pain but can be warm and pleasant. It was mind-blowing. I suddenly realized that my life could be different, that it could be free of the pain.”

His incredible journey didn’t end there; the phase II clinical trial was so successful that it was halted early to move straight onto phase III trials across Europe and the US, leading to a marketing authorization application.

“That's where I started learning about the challenges in drug access,” says Rocco. “EPP is very difficult to measure – there were no objective measures of the severity of the symptoms and of the efficacy of the compound, and much was based on real-world patient-reported outcomes, which however made it difficult to convince the authorities that this compound was efficacious in patients.”

Rocco started advocating for EPP patients, and a year later helped facilitate the invitation of patient representatives to speak to the European Medicines Agency (EMA) in London.

“We were the first patient community in the history of the EMA to be invited to the formal meeting where they were voting on whether or not to grant recommendation for marketing authorization. Thanks to our testimonies as patients, the drug was finally approved under exceptional circumstances. That's something I'm very proud of.”

As he continues his work, Rocco draws from his EPP journey. “To experience the process as a person and a researcher – to see how an experimental drug can change a person’s life, my life – was incredible. Being a subject gives you a totally different perspective – you realize how important the work is that we do behind the bench.

“It’s a privilege to work to discover and develop drugs. If you're successful, you're going to change people's lives. I recently told my story to our ethics, risk and compliance group, who are not even directly involved in research, to help them see that each one of us is contributing to helping patients gain a better quality of life. It’s very important to bring us back to our purpose by hearing human stories.”

Thinking back over the scale of his achievements, Rocco will always remember 21 January 2006 – the day he showed his doctor a printout of his internet search. “A lot of people were involved in bringing this medicine to patients, but I am very proud that I was the catalyst for the first clinical trial.”

Twelve years on, “It's almost like I don't have the disease anymore,” he says. “It is truly life-changing.”

Click here to read our previous Patients in Pharma articles