Little Klara's Unyielding Spirit and Dr. Semler's Compassion
Cologne - Klara, a ten-year-old child, has broken a bone approximately thirty times in her ten-year existence. This isn't just an arbitrary figure; it represents her ongoing battle with 'osteogenesis imperfecta,' or brittle bone disease.
This illness leaves her bones fragile, prone to shatter at the slightest strain. Klara is one of around a thousand children in Germany to live with this condition, and despite its incurability, she's discovering ways to live with it.
Living with 'It'
Klara observes the feasibility of this firsthand every year during her annual check-up at the Cologne University Hospital. Dr. Oliver Semler, the Head of the Center for Rare Skeletal Diseases in Children and Adolescents, greets her with understanding and compassion. Semler himself shares her struggle with brittle bone disease.
He explains, "I comprehend why patients shy away from undergoing medical treatment, but I also perceive the medically necessary care which is irrespective of one's will. I recognize what can possibly be achieved."
The Professor Sheds Light and Hope
"Many parents fear the future, questioning their child's capacity for independence," Semler shares. "Then, I serve as an example of a life lived successfully despite the illness. Many patients gain hope through this."
Klara's father, Roland, shares, "Professor Semler has been encouraging and an immense source of comfort. We trust him completely and appreciate his interaction with the children, always treating them with respect."
Klara's Resilience
Klara, along with her twin sister, Ronja, recently transitioned from elementary to secondary school. Despite her physical challenges, she thrives in wheelchair sports and cherishes time with her siblings. Metal wires reinforce her legs, and regular infusions maintain the skeletal stability she needs.
Semler laments, "These drugs were never designed for children. While initial studies exist, none are focused on severe cases, particularly those afflicted children with the disease."
A Call for Support
Semler implores for targeted drug development, attempting to help those with severe forms of osteogenesis imperfecta. Through support from BILD, a 'heart for children' organization committed to aiding children worldwide, research and funding become more accessible to this cause.
Despite her personal struggles, Klara's spirit remains unbroken, drawing strength from Semler's own experiences with the rare disease and their profound connection.
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Enrichment Data:
The ongoing research to develop targeted drugs for children with severe osteogenesis imperfecta is supported by various organizations, including:
- BOOST Pharma:
- BOOST Pharma is leading a unique clinical trial (BOOSTB4) utilizing mesenchymal stem cells (MSCs) with high bone-forming capacity. With success in reducing fracture rates by 75% and proven safety, they are working towards more advanced clinical trials. In May 2024, they received funding from Karolinska Development and Industrifonden to further their efforts.
- Ultragenyx Pharmaceuticals:
- Ultragenyx's progression with setrusumab, a monoclonal antibody for osteogenesis imperfecta, is continuing in the Orbit study, aiming for a second interim analysis by mid-2025. Setrusumab's efficacy is under evaluation in both pediatric and young adult patients with osteogenesis imperfecta.
These ongoing initiatives demonstrate the commitment and investment in creating improved lives and fewer fractures for children suffering from severe osteogenesis imperfecta.
