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Working with patients

Rare Disease Day 2025

Mereo marks Rare Disease Day by welcoming experts in osteogenesis imperfecta (OI).

Rare Disease Day is a global annual event dedicated to raising awareness about rare conditions and the challenges and achievements, of those living with them. This year’s theme, ‘more than you can imagine’, highlights the resilience, strength and individuality of people living with rare diseases. To mark the occasion, Mereo BioPharma hosted a special internal event to spend time with members from the osteogenesis imperfecta (OI) community to learn more about the experiences and opinions of people living with this condition; and the healthcare professionals who care for them.

We were pleased to welcome Martijn Dillen and Ferre Castrel, two young men living with OI and members of the Belgium OI association, ZOI, alongside Professor Nick Bishop, a specialist in paediatric bone disease at the University of Sheffield, for an inspiring discussion. The conversation offered a unique opportunity to learn more about life with OI and hopes for the future for the best outcomes for people living with this condition.

More than you can imagine: marking Rare Disease Day 2025 with perspectives on osteogenesis imperfecta

Diagnosis and early experiences with OI

Martijn and Ferre shared their journeys to being diagnosed with OI. Martijn described how he was diagnosed with Type 3 OI whilst still in the womb as it was discovered during a routine ultrasound scan that his bones were not growing as expected, with the condition later confirmed through a biopsy of the umbilical cord. Ferre recounted that his diagnosis came when three weeks after birth he suddenly stopped eating and began crying. When his family took him to the hospital, an X-ray revealed he had a broken arm. At first, they suspected that he might have been abused by the night shift nurse, but his doctor quickly identified that Ferre had OI.

Growing up with OI

Despite living with a condition that can present physical challenges, Martijn and Ferre have continued to live fulfilling lives. Both spoke candidly about their childhoods and adolescence – balancing medical needs with school, friendships, and personal growth.

Speaking about his experience growing up, Ferre shared, “The most important thing in my childhood – and even now – was not falling. As a child, this could sometimes be difficult when playing with other kids, but I didn’t suffer. You develop a resilience and search for your own way of doing things.”

Care and transition

Transitioning from paediatric to adult care can be a daunting process for individuals with rare conditions like OI.

Speaking on transition of care, Professor Bishop reflected, “Things have improved a lot in the last 20 years and that’s because adult services have greatly improved. Previously, there was no system to support young people transitioning into adult care, with many parents feeling their children had been abandoned in the process. Now, we start preparing our young people from age 14 for the transition into adult care, discussing what they are likely to experience in adolescence. From age 16, we then introduce them to our adult colleagues. This approach can help ensure they continue to be supported as they get older.”

Evolving perspectives and 'more than you can imagine'

The diagnosis of and care for people living with OI have evolved over time.
“When I first started at Montreal 25 years ago, bisphosphonates were being used sporadically as the only option available. Returning to the UK, I moved to Sheffield because they were open to having a rare bone specialism. We now have four highly specialised OI centres here in the UK, offering comprehensive care for children and young people living with OI. We’re also slowly starting to see improvements in care for adults living with OI. But the very near future in the field of OI care looks better than anything we’ve seen in the past 20 years,” said Professor Bishop.

This year’s theme of ‘More than you can imagine’ resonated throughout the discussion, with panellists highlighting that its meaning is very personal to each individual living with a rare condition.

“It’s difficult to say who I would be if I didn’t have OI – the condition shapes you not only physically, but mentally. The condition doesn’t define me, but it has given me resilience,” said Ferre.

Martijn agreed, saying, “When you are born with OI, when you have been in a wheelchair most of your life, you don’t know anything else. It’s important to stay positive, to always search for options and solutions that work with you. You don’t have to be limited by this condition.”

Conclusion

The discussion concluded with reflections on how companies like Mereo can better serve communities affected by rare diseases like OI, and their hopes for the future of OI.
Speaking on what companies should do, Professor Bishop said, “Keep listening to patients. What we are all here for – physicians, nurses, pharmaceutical companies, researchers – is to make a difference in the lives of people living with OI. To do that, we need to listen to them.”
Discussing their hopes for the future of OI, Martijn and Ferre described a life less limited by the condition through support and advances in treatment and diagnosis.
“I would like for the genetics to be better understood and to fix OI before it happens, but that’s a very long time from now. At this moment, I’d like for people living with OI to not be limited by the condition and to have support from their doctors, families, and friends,” said Ferre.
“I would like for the symptoms of OI to be reduced and for those living with OI to have good support around them. Especially for children living with OI, it’s important they aren’t limited and that they can grow and be themselves,” said Martijn.

To close the meeting, Denise Scots-Knight, CEO of Mereo, said to Martijn and Ferre: “Today has been an inspiration for all of us at Mereo. Thank you for sharing your hugely inspiring stories and personal experiences, how you have been pushing the boundaries and building resilience. Coming back to the theme for this year’s Rare Disease Day, I know that you two are going to be much more than you can imagine.”

Hear more from Martijn, Ferre and Professor Nick Bishop.

For more information on OI and to find support resources from your local country OI association, please visit the websites of the Osteogenesis Imperfecta Federation Europe (OIFE) and Osteogenesis Imperfecta Foundation (OIF). For those living in Belgium where Martijn and Ferre are based, please visit the ZOI website, a country-specific support group for those living with OI; and one of the national member associations of the OIFE (Members - OIFE - Osteogenesis Imperfecta Federation Europe).