ECEESPE2025 ePoster Presentations Bone and Mineral Metabolism (142 abstracts)
The achondroplasia roadmap
Marco Sessa 1 , Josè Sim-Sim 2 , Nathalie Meunier 3 , Stephanie Birch 4 , Marta Skierkowska 5 , Kenia Rio 6 , Andrea Verónica Fraschina 7 , Rosa Brumberg 8 , Fernanda Cornejo 9 & Susana Noval 10
1AISAC Odv, MILANO, Italy; 2ANDO, EVORA, Portugal; 3APPT, PARIS, France; 4FEST, KIDWELLY, United Kingdom; 5Odblokuj-zycie, WARSAW, Poland; 6ANNABRA, RIO DE JANEIRO, Brazil; 7ACONAR, MAR DEL PLAT, Argentina; 8ACONUR, MONTEVIDEO, Uruguay; 9Associación Padres Acondroplasia, SANTIAGO DEL CHILE, Chile; 10ALPE, GIJON, Spain
JOINT383
Introduction: Achondroplasia is a type of skeletal dysplasia that effects the length and shape of bones, most apparent in the arms, legs and head. While it is the most common cause of short stature, only 1 in 25,000 children are born with achondroplasia, with about 250,000 people world-wide with the condition. Parents, healthcare professionals and others lack resources to support children in navigating the emotional and social challenges they face growing up.
Methodology: Leaders from 11 achondroplasia patient associations among them also parents and individuals with the condition participated in guided discussions to define the life milestones and related medical, emotional and social issues families and children often face. The co-created Achondroplasia Roadmap is an interactive, visual information tool that presents topics including genetic counseling, medical issues, navigating the social environment and promoting independence, presenting each topic at key phases of development: pre-natal, birth-2 years of age, 3-6 years, 7-12 years and 13-18 years. After 12 months, the same patient representatives were asked to report on key indicators to assess how and in what contexts the Roadmap has been utilized, along with metrics including number and type of events where it was presented, audience, and social media reach and impressions.
Results: Data will be presented on the utilization of the Achondroplasia Roadmap and feedback from the community in the first 12 months.
Conclusions: In addition to improving parents’ knowledge about the condition, expectations are that the Roadmap is an important resource for facilitating conversations with healthcare professionals, teachers, peers and others, in order to increase understanding about the challenges faced by families and children with achondroplasia. The Roadmap was developed by the International Council of Achondroplasia Patient Association Leaders, an ad hoc body representing 11 countries, with support from BioMarin.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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