It's time we screened babies for my faulty gene

On Christmas Eve 2015, Michael Conway was called into his doctor’s office.

Six years had passed since he first noticed he was shuffling his feet and struggling with balance.

It seemed he was finally to be given a diagnosis. It turned out to be a wrong one.

“I arrived with my wife and my neurologist told me I’ve got MS,” recalls Michael.

“And it felt strangely good to finally hear it called something.

“I woke up the next day, Christmas Day feeling a wee bit down – but I picked myself up pretty quickly. Finally, after all the tests, I had a name for it.”

But it took another five months of investigations before he finally had the right name.

Michael, from Renfrewshire, has adrenoleukodystrophy, or ALD – an inherited disorder believed by some researchers to affect about one in 15,000 individuals. It is so rare it is frequently misdiagnosed.

Those who have heard of it may have done so by watching the 1992 film Lorenzo’s Oil, based on the true story of Lorenzo Odone whose parents tried to find a cure for their son’s condition.

ALD is caused by a faulty gene on the X chromosome. Women, because they have two X chromosomes, can be carriers but are less likely to display severe symptoms and may never realise they have it.

But for males ALD can be devastating.

As with MS (for which it’s often mistaken) ALD destroys myelin – the protective cover that shields the nerve cells in the brain and spinal cord.

“Balance is the obvious symptom – the falling and the shuffling – but the other main way it affects me is fatigue,” Michael says.

“I’ll fall asleep at night in minutes but when I wake up in the morning I’ll feel like I’ve done eight rounds with a boxer. The tiredness in the morning is a killer.” His short term memory and concentration are also affected.

Michael, 56, has a slow-developing adult form of the illness and still works full-time in shipbuilding as an estimator, doing costings on billion pound warships for BAE Systems in Glasgow.

His work is important to him and he is grateful to his employer for adjustments like a ground floor office and a car parking space nearby.

What gets him out of bed each morning is a determination to make the most of each day but also a desire to help others born with the same genetic code.

There is currently no cure for ALD but the outcomes can be very different depending on when it is detected.

If picked up early enough, a bone marrow transplant can stabilise the condition, allowing a person with the faulty gene to lead a relatively normal life.

“It’s not going to make any difference to me because I’m already a sufferer but I don’t want other people to end up like me,” he says.

Michael and others affected by ALD want it added to nine other rare conditions currently screened for as part of the “heel prick” blood test for newborn babies in the UK.

The UK and devolved governments are guided in such matters by advice from the UK National Screening Committee whose experts must weigh up both the benefits and possible harms – such as false results causing families anxiety.

At its last review, in 2021, the committee decided there was insufficient evidence on the outcome of treatment or the accuracy of screening tests for ALD.

But elsewhere in the world – in the Netherlands, Taiwan and the majority of US states – a growing list of policymakers are taking a different view.

Sara Hunt, from the charity Alex TLC, has first-hand experience of the difference early detection can make. Her eldest son Alex was not diagnosed until he was seven by which time the disease was already attacking his brain.

“I had a very normal, healthy happy little boy who deteriorated at a rate of knots into somebody that couldn’t speak, communicate or even smile at the end,” says Sara, from south London.

Alex died at the age of 19 but his ALD diagnosis meant his younger brother Ayden was monitored and could receive early stem cell treatment.

“Ayden is now 23, he’s been to uni, he works full-time here at the charity. To look at him you wouldn’t know he has an underlying condition”.

A study has calculated it would cost just over £400,000 to add ALD testing for boys to the UK’s newborn screening programme, detecting an estimated 18 affected boys a year, 10 of whom would develop the most serious childhood form of the disease.

The savings in lifetime health, social care and education costs would be about £3m per year, the research suggested.

Hopes that Lorenzo’s Oil would be a miracle cure for ALD have not materialised – Lorenzo himself died a day after his 30th birthday in 2013 – though some believe it can slow the progression of the disease.

In the UK a bone marrow transplant is now the accepted treatment while in the US gene therapy is being developed.

For an already symptomatic adult like Michael Conway there is currently no treatment that will repair or slow the damage to his nerve cells but his disease has taught him to cherish the life he has.

He is no stranger to family tragedy. His father Alex, who worked at the Ferguson’s shipyard, died of motor neurone disease, aged 58. His brother Christopher died from a perforated duodenal ulcer at the age of 21.

“Maybe that’s part of it as well,” he reflects, “I’m still here – make the most of it.”

The evidence on whether to introduce newborn screening for ALD is next due for review at the end of 2024. Whatever the outcome, he plans to keep campaigning to raise awareness of his condition.

Michael often tells people his motto is: “Treat every day like it’s Christmas Day.

“What I mean by that is the only person who is going to get the best out of the day is myself – so I’ve got to approach it with some kind of positivity,” he says.

“I have my down days too, but you’ve just got to approach it with a smile.”

As he looks forward to spending the actual Christmas Day with his children and grandchildren, he has this piece of advice for others.

“Slow your life down, appreciate your family – appreciate the small things in life – small but important. Appreciate the small things.”

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