The charity has five strategic objectives. Below we summarise how we progressed against these objectives in 2023.

Awareness & standards of care: as part of the Rare Bone Collaborative Network, we have been supporting the establishment of a new NHS Rare Disease Care Network (RDCN) of over 22 hospitals across the UK. Together we have developed a networked service model for care of adults with rare bone conditions in England.

Access to new treatments: We contributed as a lead patient group to Health Technology Assessments for burosumab for adults, both in England and Wales and in Scotland. The charity welcomes the recent news that adults with XLH will now be able to access burosumab in Scotland.

Information and support: We have improved the information available on our website and consolidated our social media presence. We held a patient family day in Bristol in May 2023 which got positive feedback and engagement from a number of new volunteers. We produce a newsletter – XLH UK Navigator – which reaches over half of the UK XLH population.

Research and evidence generation: We built evidence on Quality of Life for adults with XLH based on an extensive survey of UK patients, and a series of in-depth qualitative studies into the lived experience of XLH.  This evidence has been presented to the Scottish Medical Consortium and to NICE as part of the ongoing Health Technology Assessments on access to burosumab.

High performing, sustainable organisation: XLH UK and International XLH Alliance have achieved operational independence and clarity about their respective areas of focus. Our charity has developed and shared a strategic plan with volunteers and reviewed its policies, risk management and fundraising plans to enable it to thrive into the future.

XLH UK has been active with the UK community and well connected to international developments since it was founded as a charitable trust on November 18th 2017. The trust was formed by Oliver Gardiner, Nicholas Papé and Amy Lee.

2018 was a momentous year for XLH UK, when we were able to contribute to the Health Technology Assessment that led to NICE guidance recommending burosumab for treating X-linked hypophosphataemia in children and young people which you can read more about here. 

In contrast, the years 2019 – 2021 saw support limited by the pandemic. Most activity was conducted online, including webinars with medical experts and updates on the Early Access Trial for burosumab in the adult population.

XLH UK is a founding member of International XLH Alliance, a network of national patient groups for those with XLH around the world. Working together internationally with medical experts from multiple disciplines has accelerated research and knowledge transfer for all concerned. XLH UK supported IXLHA with accounting, IT and administration services whilst it was forming and contributed financially to a successful international medical symposium in Dublin in 2022. In 2022 it was agreed that the two organisations should become more independent from each other and legal and financial separation has now been achieved.

Our values – accountability, integrity and transparency – underpin everything we do.

The XLH UK Board of Trustees are volunteers who are legally responsible for the organisation fulfilling its charitable objectives.  If you believe you have the time and interest to become a trustee, please contact the Chair in confidence at sarah@xlhuk.org 

The XLH UK Board is supported by wonderful volunteers and freelancers, whom we would like to thank below.

XLH UK is lucky to have the support of a selection of multi-disciplinary experts who are knowledgeable about XLH. The Committee’s role is to connect with other experts in UK and abroad, to shape necessary research and advise on how to optimise treatment and care pathways.