Colne toddler diagnosed with rare disorder (From Lancashire Telegraph)

Colne toddler diagnosed with rare disorder

11:30am Wednesday 15th August 2012 in Pendle By Kate Jackson, Reporter

A BRAVE little boy is battling a rare genetic condition which has left doctors baffled for three years.

Jacob Murray, of Colne, has the chromosome disorder Mosaic trisomy 8 syndrome (T8M) which has no cure. The condition, which affects between 25,000 and 50,000 worldwide, can be life-limiting, according to health experts.

Jacob's parents Emma Crosby and Ben Murray were only told he had the condition last month after fighting for medical tests.

Since he was born, Jacob has suffered a catalogue of health problems including problems with his vision, glue ear, his left kidney isn’t working properly, he has a heart murmur and he problems with balance. He also has speech and learning difficulties.

Emma, 24, of New Bath Street, Colne, said it was 'devastating' to hear he has the disorder.

She said: "People said that I was worried over nothing but as a mum you have an instinct when something isn’t quite right with your child.

“It is devastating to know that there is no cure for the condition.”

The condition is caused by the presence of an extra chromosome number eight in some cells in the body.

Lancashire Telegraph expert Dr Tom Smith said the serious condition was so rare, he has never met anyone who has suffered from it.

He said: "Mosaic trisomy 8 syndrome is a very serious condition, which is not curable.

"Sufferers will have a low immune system making them prone to illness, they will also have various problems with their organs which won’t develop properly.

“Some sufferers have problems with the valves in their heart which means that they need heart surgery.

"It is unlikely that sufferers will develop properly physically and mentally. It can be life-limiting in some cases."

Emma, who is a nursery nurse at Toddle In Nursery in Colne, said doctors were unable to identify Jacob's condition because it is so rare.

Doctors treated each of the problems individually but Emma and Ben believed there was a more serious underlying cause to his condition.

After three years of fighting, consultants carried out genetic testing which came back normal.

However they insisted that something else was wrong and he was referred to specialist geneticist Dr Kay Metcalfe at St Mary’s Hospital, in Manchester, who came to Burnley General Hospital to see him and found he had the condition.

She said: "With all these problems I pushed for the doctors to carry out genetic tests. The results came back that this chromosomes were normal, however they had only tested a selection of his chromosomes, so I insisted that I wanted to see a geneticist.

“The geneticist said that looking at him there was something wrong. After further tests it was found that he had Mosaic trisomy 8 syndrome.

“I felt so upset and worried but also a sense of relief that people were listening to me at last.

"I always knew that there was something wrong and that feeling never left me."

Emma and Ben have set up a Facebook group called Our t8m star! - Jacob’s story to raise awareness about raise awareness of genetic conditions and to promote research into them.

Emma added: “I wanted to make the Facebook group to make awareness and to tell the story of my brave little man who has fought throughout his life from the word go.

“More research needs to be done into rare chromosome disorders to stop parents having to fight to get diagnosed. My advice to other parents is to trust your instinct, if you have a feeling that something isn’t right with your child, pursue it.”