ALD: Mum's fight to stop others watching their children die 'horrific' death with rare disease

  • Karen Harrison speaks to ITV Anglia News' Callum Fairhurst

A mum whose twins' lives were destroyed by a rare genetic condition is calling for screening to be introduced to stop other families having to watch their children's “horrific" deaths.

Karen Harrison's twins Alexander and Cameron were both diagnosed with adrenoleukodystrophy (ALD) at the age of six, just weeks after they had been playing around outside like other boys their age.

The disease led to Alexander dying at the age of eight, and identical twin Cameron, who is now 26, being left blind, deaf and unable to move.

Now Mrs Harrison wants the government to introduce screening tests for newborn babies that can detect the disease at an early age, which could lead to treatment and allow people to live an ordinary life. 

The mum, who works for a charity supporting people with the condition, said: "Alexander had gone from being a normal little boy to being almost blind, and hard of hearing. He was finding life really quite difficult.

“You never, ever expect to be told that your child has a disease which can't be treated, let alone a disease that's going to rob absolutely everything from them.”

Mrs Harrison, who lives in Hitchin in Hertfordshire, added people should be screened to “save their lives and save these families from having to watch their children die in the most horrific manner".

The identical twins were happy growing up Credit: ITV Anglia

What is adrenoleukodystrophy, or ALD?

According to Great Ormond Street Hospital, ALD is a rare inherited disorder affecting the adrenal glands and white matter of the brain, causing a progressive loss of physical and mental skills.

ALD is linked to the X chromosome, which means that only boys (XY) are affected and the mother may be a carrier of the disease. As females have two X chromosomes, the fault can be completely or partially overcome by the other healthy X in the pair but in males, who only have one X, there is not another X to provide a functioning gene.

Over the course of several months or years the boy will become increasingly unsteady, lose skills and, eventually, his vision will deteriorate and epilepsy will develop.

The brain’s control of the muscles responsible for chewing, coughing and swallowing eventually become affected so that assistance with a feeding tube may be needed. Chestiness will develop and may lead to infections and increasing physical weakness. Eventually the child will die. 

It affects roughly one in 20,000 males, says the NHS.

ALD destroys the white matter in boys' brains. Women who carry the faulty gene for ALD can develop some symptoms later in adulthood.

It presents differently in different people, but the most severe outcome is death.

There is no cure for the disease but, according to children’s neurologist Dr Alasdair Parker, bone marrow transplants can prevent almost any complication, but only if it is caught early enough. 

“It's a very severe condition. If you diagnose it before the child starts to deteriorate, it's likely that they will not significantly deteriorate for many, many years, if at all," he said.

He said that a test would be an additional element on the heel-prick test that children in the UK already have done at five days old.

“If you identify that the child is likely to develop this disorder, it gives you the possibility to intervene and survey the child to check whether any further deterioration is happening," he added.

Cameron and his mum, Karen. Credit: ITV Anglia

The UK National Screening Committee, which falls under the Department of Health and advises the NHS on which screening programmes to offer, currently does not recommend the screening.

While many states in the USA already offer the tests, the committee said there is a lack of evidence relating to incidence of ALD in the UK, how ALD might present over time and the accuracy of screening tests. 

A review of this decision is set to take place next year. 

But Mrs Harrison wants action sooner, to prevent other families enduring heartache.

"My sons were diagnosed 20 years ago,” she said.

“But I'm still supporting families who are getting the same diagnosis with the same prognosis. It's 20 years on, and that just feels wrong.”

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