A marathon without shoes: the race of those challenging rare diseases

This is how Samuela Bellini, Vice President of the association "A Ray of Sunshine for Marty," describes the daily condition faced by Martina, a 17-year-old girl living with SPG50 – an ultra-rare form of hereditary spastic paraparesis affecting only four people in Italy and about sixty worldwide. A metaphor that conveys, with both rawness and sensitivity, a life marked by uncertainty, constant obstacles, and extraordinary resilience.

"Every day the marathon starts from scratch," explains Samuela. "With the uncertainty of whether Martina and her family will be able to take a step forward or if a new difficulty will arise. It’s an ongoing challenge, where the balance between hope and frustration is constant."

The diagnosis of SPG50 – a rare genetic mutation that affects the nervous system – arrived after twelve long years of diagnostic testing. A timeline that highlights the ongoing gap between the needs of families and the timelines of standardized medical practice. Twelve years navigating blindly, without clear references.

"When we finally had a name for the disease," recounts Samuela, "Jessica, Martina's mother, felt relieved. She believed that from there, a path could begin. But during a conference on AP-4 (a protein complex whose genetic mutation underlies Martina’s condition), we discovered there was no treatment. No cure, no experimental drug, no established protocol."

Jacopo reflects: "It’s one of those moments when you realize that having a diagnosis isn’t enough if there are no answers. A definition is not a solution."

That awareness marked a turning point. Samuela, with a twenty-year career in the pharmaceutical industry, chose to dedicate herself to the cause. "It was what gave meaning to my time," she affirms.

"I imagine it wasn’t easy," adds Jacopo. "When you realize that even a small gesture can have a huge impact for someone facing this daily marathon, you understand the true value of what you do. It’s not just about ethics: it’s about genuine fulfillment."

"Over the years working with companies and institutions in the field of rare diseases, I’ve always seen these realities as almost invisible archipelagos, composed of isolated expressions of rarity. Realities disconnected from one another, far from the mainstream routes of medicine focused on large numbers. But precisely for this reason, capable of generating new and unexpected connections."

"That’s why we founded 'A Ray of Sunshine for Marty,'" explains Samuela. "To build bridges, to ensure that these families no longer feel alone. To give them tools, language, and alliances."

Among the most significant of these bridges is the meeting with Terry Pirovolakis, a Canadian father of a child with SPG50.

"Terry is an extraordinary example," says Samuela. "When they told him nothing could be done, he raised funds, founded ELPIDA Therapeutics, and financed an experimental treatment in just two years. A story that defies all expectations."

Jacopo observes: "Personal urgency mobilizes energies that institutions often can’t. It’s as if individual need makes the impossible possible."

"Exactly. Companies don’t have a Michael or a Martina at home," comments Samuela. "The problem isn’t a lack of empathy, but the distance in objectives. And sometimes also the slowness of institutions."

The conversation shifts to a broader cultural and systemic level. "What do you think is missing to create a society more sensitive to these issues?" asks Jacopo.

"Two fundamental things," replies Samuela. "A culture of participation and concrete tools for those who want to help. Many people are willing, but don’t know where to direct their energy."

Jacopo smiles: "In our small way, at JSB we introduced 'quality time' years ago: 20 hours a year that employees can dedicate to cultural or volunteer activities. It’s a model that, if replicated, could have systemic impact."

"If every healthcare professional dedicated one hour a week to these causes," reflects Samuela, "we’d witness a quiet but powerful revolution."

Before turning to scientific research, a crucial ethical issue arises: the regulatory paradox affecting rare, and especially ultra-rare, diseases.

"It’s a paradox," observes Samuela. "Regulations, created to ensure safety and protection, end up blocking access to treatments that could change lives. It’s as if being an exception gets you excluded."

Jacopo adds: "This paradox reflects a broader dilemma in healthcare: sacrificing exceptionality to protect the majority, turning safeguards into barriers for those who most need flexibility. It’s a tough systemic contradiction."

"Exactly," confirms Samuela. "In Martina’s case, we faced rules designed for very different scenarios, built to manage numbers and statistics, not individual lives. But here we don’t have large numbers. Here we have Martina. We have Michael. And when no alternatives exist, perhaps every rule should have the courage to rethink itself."

"This calls for a mindset shift," adds Jacopo. "A maturing process that takes time, but that has already begun."

"We need ethical flexibility, not laxity," clarifies Samuela. "It’s not about cutting corners or bypassing science. It’s about adapting science to people, not the other way around."

A striking example of this paradox can be seen in the comparison between Canada and Italy. "In Canada," says Samuela, "Terry accessed the treatment for Michael through compassionate use. The state acknowledged the urgency. In Italy, instead, we encountered rigid regulation. The same principles that allowed flexibility elsewhere became nearly insurmountable barriers here."

Jacopo comments: "It’s surprising to see this ethical paradox between 'sister nations': Canada and Italy, despite sharing core values, handled Martina’s clinical scenario very differently. Even advanced healthcare systems can diverge significantly in balancing innovation and caution."

Samuela nods and adds: "This doesn’t mean denying the importance of rules. The regulatory system has a crucial role, and rigorous criteria are essential to protect patients. But balance is needed: recognizing exceptionality without compromising safety, adapting protocols without losing their integrity. It’s a matter of proportion and listening."

The urgency of scientific research re-emerges.

"Boston Hospital spent six years screening existing molecules potentially effective against SPG50," says Samuela. "Covid showed us we can do much more, much faster. So why not apply the same urgency for rare diseases?"

"Artificial intelligence and today’s technological arsenal can accelerate these processes," says Jacopo. "But we need willingness, trust, and the courage to rethink how regulation works."

The conversation closes with a focus on the transformative power of volunteering – not just as help, but as a meaningful human experience.

"Those who participate in our initiatives rarely step away," says Samuela. "They discover a rare kind of joy – powerful, lasting, and unexpectedly addictive."

Jacopo nods, thinking of Antonella and Giada, two JSB colleagues who initiated the company’s involvement in presenting the clinical study to regulatory agencies and played a key role in supporting the association.

"When I met Terry last year at the Madrid conference, he told me they were trying to bring the treatment to Italy, but everyone said it was impossible," recalls Samuela. "I was scared. I didn’t know what to do. Giada, with disarming simplicity, said: 'Samuela, don’t worry, we’ll take care of it.' Those words lifted a huge weight off my shoulders. After that call, I knew the road was still hard, but no longer impossible."

And from there, the journey continued. Together.

"It’s not a miracle," concludes Samuela. "It’s the result of constant effort: calls, emails, obstacles, and many small yeses. One step at a time, we’re building a bridge between these invisible islands. And we’ll keep building, because each bridge means a new possibility, a new voice breaking the silence. Each of us can help make at least one island feel less alone. All it takes is a gesture."

Jacopo adds with a smile: "In the end, all of this teaches us something simple yet powerful: you don’t have to be a hero to make a difference. You just have to be there. Even just to say, 'we’ll take care of it' and follow through with your skills, time, and resources. Real change happens when competence meets empathy – when companies stop only counting numbers and start measuring human impact. If we can place even one stone of that bridge, it’s already worth everything."

To learn about and support the association "A Ray of Sunshine for Marty": https://sites.google.com/

‍