Colne mum’s battle for medics to recognise son’s rare genetic disorder

Emma Crosby and her son Jacob Murray who has been diagnosed with a rare chromosome disorder.'Photo Ben Parsons
Emma Crosby and her son Jacob Murray who has been diagnosed with a rare chromosome disorder.'Photo Ben Parsons

A MOTHER from Colne has set up a Facebook page to raise awareness of a rare genetic disorder which has affected her three-year-old son.

Emma Crosby, of New Bath Street, suspected something was wrong with Jacob soon after he was born, but it was only discovered last month that he suffers from Mosaic trisomy 8 syndrome.

The rare chromosome disorder affects one in 25,000 to 50,000 children was diagnosed by geneticist Dr Kay Metcalfe from St Mary’s Hospital, Manchester.

Emma said Jacob had suffered health problems since he was born. His left kidney isn’t working properly, he struggles to balance and has speech and learning difficulties.

Trisomy 8 is defined as the presence of three full copies of chromosome 8 in all of a person’s cells. Mosaic trisomy 8 occurs when only a portion of these cells contain three copies, while others contain the usual two. Emma said that, as a mother, she knew something was wrong with Jacob even though tests suggested everything was normal.

She was referred to Dr Metcalfe, who came to Burnley to see Jacob and found he had the life-limiting condition.

Emma said: “I pushed for genetic tests to be carried out but the results of tests on a selection of chromosomes came back showing nothing was wrong.

“I insisted on seeing a geneticist and when she saw him, she said there was something wrong. That was when they found he had the syndrome.”

“People said I was worrying over nothing, but I am so relieved I carried on and people were listening to me.”

The Facebook page set up by Emma is called Our t8m star! - Jacob’s story.

Jacob also gets lots of support from his dad Ben Murray.