South Yorkshire toddler follows path to faster treatment

Dan Machin with Jae, and Jennifer Machin with younger son Jed, five months old.
Dan Machin with Jae, and Jennifer Machin with younger son Jed, five months old.

A toddler has been diagnosed with a rare disorder after becoming the first patient to benefit from a new ‘gene machine’ in Sheffield.

Jae Machin, aged two, was found to have glycogen storage disease - a serious but treatable metabolic disorder - after his blood was tested with hi-tech gene sequencers at Sheffield Children’s Hospital.

The £500,000 technology allows experts to screen up to 100 genes at once for mutations that cause diseases, instead of one at a time.

That means results can be returned in a matter of weeks - unlike the previous system, where the process could take up to a year.

Glycogen storage disease is caused by mutations which affect different tissues, such as the liver, muscles or heart, impairing their ability to function normally.

Jae’s mum Jennifer Machin, 36, from Conisbrough, said: “Identifying the gene that caused the problem is making a difference, as we can make changes to Jae’s diet and manage the condition effectively. It will also make it much easier when it comes to testing other members of the family.”

The Sanger Sequencing equipment will prove most useful for patients who display symptoms, but it is unclear what the cause might be.

Dr Sufin Yap, consultant in metabolic medicine, said: “Before the sequencer arrived, finding the correct gene was like looking for a needle in a haystack.

“Under the old system it would have taken at least six months, whereas with the new system it took just two months.

“This means our patient will receive definitive treatment faster than before.”

The sequencers are two of around 15 at NHS trusts across the country, and were funded by the Children’s Hospital Charity.