Michael Conway, a full-time shipbuilding estimator, was wrongly diagnosed with multiple sclerosis on Christmas Eve in 2015. His correct diagnosis, five months later, was adrenoleukodystrophy (ALD), a rare genetic disorder that affects approximately one in 15,000 individuals. The disease is frequently misdiagnosed because it is so rare. A faulty gene on the X chromosome causes ALD, which destroys myelin, the protective cover that shields the nerve cells in the brain and spinal cord. Michael has a slow-developing adult form, which still enables him to work and lead a relatively normal life, but he fatigues easily and struggles with balance and memory.
ALD is one of ten rare conditions that are not part of the heel prick blood test for newborn babies in the UK. Elsewhere in the world, such as in the Netherlands, Taiwan and the US, policymakers are taking a different view, adding ALD testing as part of newborn screening schemes. Sara Hunt of the charity Alex TLC knows first-hand the difference early detection can make. Her eldest son Alex was not diagnosed until he was seven, by which time the disease adversely impacted his brain. Sara’s younger son Ayden benefited from early stem cell treatment and can lead a relatively normal life.
The UK is guided by the UK National Screening Committee, whose experts must weigh up both the benefits and possible harms of adding ALD to the heel prick blood test. The committee decided in 2021 that there was no sufficient evidence on the outcome of treatment or the accuracy of screening tests for ALD. However, a study has estimated that adding ALD testing to the UK’s newborn screening programme for boys would cost just over £400,000 and detect an estimated 18 affected boys a year, ten of whom would have the most serious childhood form of the disease. The savings in lifetime health, social care and education are estimated to be £3m annually if newborn screening tests include ALD.
There is no cure for ALD, but outcomes can vary significantly depending on when it is detected. A bone marrow transplant can stabilise the condition and allow sufferers to live a relatively normal life if detected early enough. Michael, now an ALD campaigner, wishes for ALD newborn screening to become standard practice in the UK to prevent others going through a similar experience. Michael’s motto is “Treat every day like it’s Christmas Day” because he wants to inspire other people to approach life with a similar positivity to his own
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