Karen Harrison- Alex, The Leukodystrophy Charity

I am the Director of Support for Alex, The Leukodystrophy charity in the UK, I am also a carrier of adrenoleukodystrophy and have two affected sons.

Adrenoleukodystrophy (ALD) is a rare genetic metabolic disease which affects the white matter of the brain and spinal cord, there are several different phenotypes affecting mainly males.

We, (Alex TLC) have applied to the National Screening Committee to have adrenoleukodystrophy added to the list of conditions screened for at birth in the UK, but to date have been unsuccessful.

In my work with the charity, I support families who have been given a diagnosis of leukodystrophy. This has life-changing effects on not just the individual who has been diagnosed but the whole family. Therefore, screening at birth for these conditions is of utmost importance to ensure timely intervention and treatment.