Where we identify a need for change we will campaign for our community and develop strategies to resolve issues. Our current projects are currently focused on ALD and our intention is now to use these learnings to extend into new project work for other leukodystrophies.
Contact us if you see a pressing issue, we’ll be happy to discuss it and consider for a future campaign or project.
Newborn Screening for Adrenoleukodystrophy in the UK
Newborn screening is a process whereby newborn babies are tested for a selected group of rare diseases to help prevent symptoms and allow for early treatment.
In 2017 ALD Life submitted an application to the National Screening Committee (NSC) to add adrenoleukodystrophy Adrenoleukodystrophy to the panel of conditions screened for in the UK. Unfortunately it was initially rejected, but with the assurance that it would be added to the list of conditions for review and reassessed in 2019/20. We are working hard alongside experts to ensure we can submit the new evidence required to influence a change in this decision.
To find out more about progress in newborn screening both in the UK and worldwide see our news section.
Raising awareness of the link between Addison’s Disease and Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy (ALD) and Adrenomyeloneuropathy (AMN) are important potential underlying diseases to consider in boys and men with primary idiopathic (unexplained) adrenal insufficiency (Addison’s Disease).
The majority of boys with adrenal insufficiency are routinely tested to see if ALD is the cause. However, this does not always happen, particularly for adult males.
We are working with specialists and the Addison’s Disease Self Help Group (ADSHG) to ensure testing for ALD in all males with adrenal insufficiency becomes routine practice in the UK.
To find out more about progress on this project see our news section.
The Addison’s Disease Self Help Group (ADSHG) has medically verified information to help you live with this condition, including downloadable information for your GP, hospital emergency department, school or work place.
Project Bostock is a memorial to our former Chair and dear friend, Mark Bostock, who sadly lost his life to cerebral ALD on 30th March 2017.
The aim of Project Bostock is to look specifically at the issues faced by males with adrenomyeloneuropathy (AMN).
In collaboration with Raremark, an online service for people living with rare diseases, we surveyed males living with AMN in 2018 to learn more about the impact of symptoms, services used, and future concerns.
This information will be used to influence future treatment policies, particularly around adult transplants.
To find out more about progress on Project Bostock see our news section.