Welcome to a new year and a new newsletter!

First things first - we have news regarding our next Family Day!

In this edition of Navigator, you will find...

  1. An overview of XLH UK's strategy
  2. The Health Technology Assessment process
  3. Our third patient story is out!
  4. Help Hub - all about connections

Progress report from XLH UK Chair, Sarah Mitson

2022 was a busy year for XLH UK as everything started to open
up after the pandemic.  

  • The three trustees visited Dublin to attend the XLH Alliance
    group meeting and the Medical Symposium which brought
    together specialists from many disciplines and countries.  

  • Our Family Day in Manchester was a great success and we were able to launch the first two of four patient stories, bringing to life the experience of living with XLH.  

  • We contributed to the process for access to burosumab for adults in England and Scotland, supported by evidence that you provided in our specially designed survey.  

  • We also completed our transition to a Charitable Incorporated Organisation and of course, we launched this newsletter! 

    The trustees have shaped an ambitious plan for 2023 and shared this with volunteers just before Christmas for their input.

    XLH UK has five strategic priorities..

1. Awareness & standards of care:
Our aim is to improve awareness of the condition and best standards of care, to ensure all patients are diagnosed promptly and get immediate and ongoing access to high quality, multi-discipline treatment and care.  
2. Access to new treatments:
We will advocate for new treatments to be developed and for those available to be widely and freely available. We will also work with XLH specialist centres and promote prompt referral for all XLH patients.  
3.   Information and support:
Our aim is to ensure that everyone affected by XLH has access to the information and support they need. We will provide clear and up to date information about XLH for free and facilitate platforms and events which develop peer support networks.  
4. Research and evidence generation: We support research on XLH and related disorders, so that medics and pharma companies can better address the burdens of the condition. This includes scientific research across disciplines and sociological research into the experience of individuals and their families.  
5.   High performing, sustainable organisation:
XLH UK will develop into a sustainable, respected patient group which represents and supports those affected by XLH and related disorders across the UK.    
With a big plan for a small charity, we need your support. If you can help by volunteering, with donations or in any other way we would love to hear from you. Please contact sarah@xlhuk.org with an outline of how you would like to contribute.  

A summary of the Health Technology Assessment process.  

Oliver Gardiner, XLH UK Trustee 

*Breaking News* - For the latest news in Scotland, please visit 

What is a Health Technology Assessment? 

A Health Technology Assessment (HTA) is the process used to evaluate the effectiveness, safety and cost of new medical treatments. The goal of HTA is to help decision makers determine which treatments are the most effective and cost-efficient for their health system. With this information they make informed decisions about which treatments to adopt and which to avoid, ultimately leading to better and more cost-effective healthcare for patients. HTA's are used in England, Wales, Scotland, NI, Republic of Ireland and the Channel Islands. 

What is the HTA status in Scotland for adults? 

XLH UK submitted data to the Scottish Medicines Consortium (SMC) in December and we met with the SMC in early January to answer questions for their review of burosumab for adults. We used the opportunity to remind decision makers of the burden of living with XLH. Initial feedback has been positive; however, it will be some months before we hear the outcome. 

In England, Wales and Northern Ireland, the National Institute for Health and Care Excellence (NICE) carries out the HTA process, providing guidance on the use of new and existing treatments within the NHS. 

The Department of Health & Social Care has asked NICE to conduct their appraisal of burosumab for treating XLH in the adult population. XLH UK have been invited to participate in the process, starting February 2023 and we will keep our community informed of the progress as this moves forward. 

New Patient Story - Sally

Sally is from Manchester and is a Compliance Manager for a medical research consultancy. Sally was diagnosed as a spontaneous case of XLH at around 18 months old and so has no family history of XLH. Sally struggled growing up without knowing anyone else with XLH and so started an Instagram account - @Sally_XLHLife - to try and connect with others with similar experiences, particularly young people.  

Sally first found XLH UK in 2017 and discovered a passion for patient advocacy, volunteering to become a trustee. Sally has taken part in numerous awareness campaigns to highlight the challenges for those living with rare and less-visible chronic conditions. Her story follows her as she recovers from surgery on a stress fracture which would not heal.  

 To view Sally’s story in full, please visit Patient Stories – XLH UK 

XLH Help Hub
Our Help Hub is where our community can share what they find helpful in managing XLH. Please do send us your thoughts and ideas – it can be physical, emotional or practical things that make your day a bit brighter.

XLH UK, Helping you to support each other

As illustrated by Sally’s story, the value of talking to people who understand your health condition cannot be overstated. 

From our research we know that people who have XLH themselves, or those supporting them, can face a lot of uncertainty with this complex condition. They often feel that they are trying to manage their health with gaps in their knowledge and gaps in the provision of care.  

Whilst there is no substitute for support from a medical specialist, sharing across our community can help to connect people to the right care and provide tips for managing symptoms and procedures on a day-to-day basis.  

Our website has a wealth of resources, including contacts to help find the right specialist, https://xlhuk.org/resources/ 

Our closed Facebook group is a good place to reach out to others with everyday problems. You can find it at XLH UK Charity; a private group with 320 followers who share a common interest – you can join by request at XLHuk.org 

Please send us your thoughts on how to best shape future newsletters by emailing the team at contact@xlhuk.org
XLH UK © 2022. Registered Charity (England and Wales) 1196811. This information should not serve as medical advice or instruction. Please always consult your healthcare professional in the first instance.

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