Developments in Growth Restrictive Skeletal Dysplasia

Attending the Human Growth Foundation Event in London

This spring, members of the FEST community had the opportunity to attend an insightful and thought-provoking event in London, hosted by the Human Growth Foundation in collaboration with Dr. Melita Irving and her research team from Evelina Children’s Hospital. Although we were not the organisers, it was a privilege to be involved, and the experience highlighted just how important these kinds of events are for our community.

We played an active role in recruiting families to attend and were pleased to see a strong turnout from across the FEST network. It was also a valuable opportunity for us to introduce ourselves more widely as the Foundation Exploring Skeletal Dysplasias Together, and to share our mission with new families and professionals alike.

The day brought together patient advocates, medical professionals, pharmaceutical representatives, and most importantly parents and children from the rare skeletal dysplasia community. Many parents who joined us were particularly keen to hear updates about clinical trials and future treatment options. One of the key focuses of the event was the drug Voxzogo (vosoritide), which has already been approved for use in children with certain forms of skeletal dysplasia in the US, Europe, Australia, and other countries. The UK, however, remains one of the few developed nations yet to approve its use. Many families in our network are anxiously awaiting updates on potential trials and approval timelines, and the event offered valuable clarity on the current state of play.

As part of our ongoing advocacy work, FEST has been actively involved in the NICE (National Institute for Health and Care Excellence) approval process. We are contributing the patient and family voice to help ensure that the needs, hopes, and lived experiences of our community are fully understood and represented.

Dr. Melita Irving delivered an engaging and informative overview of the trial results and what’s on the horizon in the UK. Much of the research to date has focused on growth outcomes. However, as a patient advocacy group deeply concerned with proportionality and quality of life, what resonated with us most were updates on the potential for improvements in craniofacial development. Early findings suggest that Voxzogo may lead to increased airway space and fewer surgical interventions for conditions that inhibit breathing, such as adenoid issues. This is a particularly hopeful development for families facing the prospect of repeated and invasive surgeries.

In the long term, our community’s vision extends beyond growth. We are watching closely for treatments that might help reduce the risks of spinal stenosis, foramen magnum compression, and the associated apnoea, all of which can result in lifelong challenges and complex surgeries.

That said, the event was not without its challenges. One concern for us was how conversations about growth treatments were conducted openly in the presence of children, many of whom are still unable to access these medications. We would have preferred a more child-focused approach, where children were engaged in parallel activities while medical discussions took place. We feel strongly that future events must consider the emotional well-being of young attendees, especially when the subject matter is sensitive or may feel exclusionary.

Despite this, the children found joy in simply being together. The day concluded with a group excursion to the London Eye, which was a highlight for many. Watching the children bond and share laughs while we all enjoyed a lofty view, putting all of London in miniature, was a refreshing perspective and a reminder of the strength and resilience of our community.

Perhaps most powerfully, the event gave parents a much-needed forum to ask candid questions and hear direct answers from experts, something that is often missing from the usual support available to those living with growth-restrictive skeletal dysplasias.

Human Centred Advocacy for Skeletal Dysplasia

At FEST, we are more motivated than ever to continue building spaces where families feel informed, supported, and empowered. While we learned much from this event, we also gained valuable insights into how we might shape our own future events with a deeper commitment to inclusion, safeguarding, and relevance.

Thank you to the Human Growth Foundation, Dr. Irving, and all those who contributed to making this event a meaningful experience. We look forward to playing a bigger role in these vital conversations and, hopefully, to hosting our own thoughtful and inclusive gatherings in the near future.