Our Thoughts on the 3rd Annual Achondroplasia Research Conference

Our Thoughts on the 3rd Annual Achondroplasia Research Conference

The 3rd Annual Achondroplasia Research Conference allowed us to learn in a safe environment that encouraged curiosity and discussion. We thoroughly enjoyed learning about new research and treatment options, both surgical and pharmaceutical, for achondroplasia and skeletal dysplasias from a perspective that isn’t typically shown or discussed in the media. Vosoritide and limb lengthening surgery do have some benefits, and may be the right treatment option for some individuals. It was refreshing to gain a different perspective on treatment in achondroplasia. An open, honest approach to discussing these topics is important. Discussions around treatment options must be free from judgement.

The biggest takeaway for us was that everyone in that room was working toward developing and offering new treatment options for patients and their families. No one set out to make patients taller. The goal has always been to improve a patient’s quality of life, health and function. Cosmetic appearance never crossed researchers’ mind.

Hearing how passionate the speakers were about helping achondroplasia and skeletal dysplasia patients do what they love in life was so promising and satisfying. The specialist teams build deep relationships with the patients enrolled in their clinical trials. Professor Ravi even said how one child came to talk to him about all the things he wants to do, but can’t without treatment. His patient is looking forward to the day when a treatment improves his quality of life, as are Professor Ravi and his team.

The narrative of this hybrid event was spot on; what works for one, may not work for another. Patients and their families need to be informed so that they can make the decision that’s right for them. No one has the right to judge a person based off their personal decision. Talking openly about every option is crucial and should not be hindered when there is clear evidence of safety and patient benefit.

We left the conference even more inspired to repurpose carbamazepine to treat MCDS patients. We want to be the ones who bring a new treatment option to MCDS patients and their families. Thank you, Chandler, for a memorable weekend full of insights and inspiring speakers. We hope to be back next year!