“Early screening saved my son’s life”

"Early screening saved my son's life"

Sara Hunt's story is bittersweet. Both of her sons were born with a rare disease affecting the brain called adrenoleukodystrophy (ALD), but only one survived. On World Brain Day, Sara shares her story.

"Alex was born healthy. Everything was going well and he was thriving at school. When he was seven, just after Ayden was born, we noticed a few uncharacteristic changes in Alex's behaviour that summer," Sara tells This Is MedTech. "When he went back to school, he was squinting at the board and wasn't following instructions."

This was the start of many visits to the GP, but they couldn't find anything wrong. When Alex continued to deteriorate, his school requested assessment by a paediatric neurologist, who said that he needed more testing. "By Christmas, he could barely see and he couldn't walk in a straight line," notes Sara.

A magnetic resonance imaging (MRI) scan, which is medical technology that uses a large magnet, radio waves and a computer to produce detailed images, helped doctors identify abnormalities on Alex's brain. "That's when they told us that Alex had an incurable hereditary disease called ALD," explains Sara. "They said that there was nothing they could do and he was given a year to live."

Doctors did a genetic test by using medtech to analyse a blood sample and this confirmed his diagnosis. As if this news wasn't devastating enough, Ayden was tested at the same time and Sara was told that her younger son had the disease, too.

ALD is the most common form of about 100 identified leukodystrophies, a group of genetic disorders affecting the white matter of the brain and spinal cord. The nerves in a person's brain stop working properly, causing progressive deterioration in their physical and mental abilities. Functions such as reasoning, speech and mobility are lost. Eventually, they become completely dependent.

Once a person with the disease starts showing symptoms, there is no treatment. However, if it's caught in the early stages, it's usually possible to stop the disease from progressing.

"Ayden wasn't showing any signs of the disease, but he had regular MRIs from age two. When he was eight, doctors spotted signs of ALD progression on the scans and he went straight for a bone marrow transplant," says Sara. "It's a risky procedure but it can be highly successful. There were some scary moments and Ayden lost nearly a year of his childhood, but it saved his life."

Alex lived until he was 19. "For 12 years, he was tube fed and he couldn't walk, talk or see," Sara points out. "The loss of him being able to communicate was the hardest part."

She set up her charity Alex, The Leukodystrophy Charity (Alex TLC) in 2004 to help people affected by leukodystrophy as she found that having a supportive community and speaking to others who truly knew what it was like to live with leukodystrophy was a lifeline.

As for Ayden, he's now 24 and has lived a normal life with no signs of ALD except for adrenal insufficiency. Like his mum, he's turned his circumstances into a positive. He also works for the charity, which hopes to see genetic screening of all newborns in the UK to ensure early diagnosis and stop disease progression before it's too late.

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