Blog

Due to the nature of the condition, almost all people with achondroplasia will experience orthopaedic issues at some point during their lives and will likely require surgical interventions. It is important to establish which orthopaedic interventions are required, and whether they can be managed through other means.

During our workshop, Chair Dr Philip Kunkel lead our expert faculty, Drs Carmen Vleggeert-Landkamp, Simone Riganti, Antonio Leiva-Gea as they discussed whether orthopaedic interventions in achondroplasia could be avoided, common issues with orthopaedic surgeries, and practical guidance for lead physicians on providing optimal post-surgery care.

As our understanding of achondroplasia progresses and new therapeutic options are developed, it is important to evaluate whether the tools we use in practice are still suitable to accurately assess outcomes.

During our Spring workshop Assessing Outcomes in a New Era of Achondroplasia Treatment Dr Melita Irving lead the discussion  with doctors Geneviève Baujat, Sérgio de Sousa and Antonio Leiva-Gea on whether current achondroplasia outcome measures are fit for purpose in the era of therapeutic management, therapeutic management in the real world, as well as the new treatment options in development.

Workshop Video and Minutes Now Available!

There had been numerous unresolved questions in Advances in Achondroplasia concerning sleep studies, highlighting a gap in our collective knowledge in caring for individuals with achondroplasia. Consequently, we chose “Understanding Sleep Studies” as the theme for our last virtual workshop, held on Tuesday, October 24th. Chaired by Professor Brigitte Fauroux, we reviewed different types of sleep studies, their suitability, the importance of interpretation, and available treatment options for children and adults affected by sleep-disordered breathing due to achondroplasia.

Recording and Minutes Now Available!

Chaired by Encarna Guillen-Navarro, our esteemed faculty led some great discussions on the clinical challenges and outcomes of importance in infancy and early childhood, from both the healthcare professional and family perspective. There were some differences, and we discussed the potential reasons for these. Geert Mortier then led a review of the recommendations available in this age group and asked whether clinical practice is in alignment. You can watch the discussions and read our minutes from the meeting now!