Screening for ALD at birth could save the lives of those identified with ALD, identify wider family members who are at risk and allow options for having future children free from ALD.
If we take an average of published incidence rates from US screening programmes (1:21,548) this means there should be 3,100 individuals with ALD in the UK today.
The Alex TLC database holds records for just 365 individuals with ALD, alive as at 24th November 2020 in the UK. Although we appreciate not everyone with ALD will seek our services, nevertheless this indicates there is an unacceptable number of unidentified individuals living with ALD in the UK.
The risks are multi-faceted, from preventable death to unwittingly passing on the condition, which can cause immense psychological trauma, with many parents who have received a diagnosis after having children expressing feelings of guilt and anxiety. In adults developing cerebral ALD, we fear there are many “lost” in the system due to the nature of initial symptoms, usually behavioural. From anecdotal beneficiary evidence, we know these initial symptoms can lead to relationship breakdown, homelessness, inability and/or unwillingness to access medical services and isolation.
From our surveys and experience we know that clinical diagnosis of ALD is incredibly difficult, in both children and adults, with misdiagnosis and unacceptably lengthy waits for a correct diagnosis (diagnostic odyssey) common.
This is why newborn screening for this horrific condition is so very important to everyone affected by ALD and AMN and why we want to ensure no one else has to go through this pain and suffering in the future.