A LOVING Colne mum whose little boy has a rare chromosome disorder is speaking out as part of Trisomy Awareness Month.
Emma Crosby (25), of Granville Street, was told her son, Jacob Murray (4) had trisomy 8 syndrome (T8M) back in July.
Trisomy 8, which affects only one in every 25,000 to 50,000 babies, 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.
The Newtown Nursery School pupil had suffered with various health problems, such as speech difficulties and issues with his kidney, since he was born. Although he did not look out of place when surrounded by other children, he did show some physical symptoms, such as feet creases, and did have more extreme behaviour.
However, as each problem was initially being treated separately, it was only after three-and-a-half years that Emma was finally given a diagnosis by geneticist Dr Kay Metcalfe from St Mary’s Hospital, Manchester.
While Emma does admit that living with the symptoms “can be hard at times”, she is also keen to prove how youngsters with the disorder can go on to lead happy, healthy and normal lives.
She said: “He is doing really well now — his main problem at the moment is speech delays.
“Just because he has a genetic problem does not mean it is all doom and gloom.
“If I could describe Jacob in a sentence I would say he has an amazing zest for life.
“We nearly lost him when he was a baby, and he seems to be thankful every day. He is a really happy little thing.”
While T8M does not have a cure, Emma said that Jacob, a fan of music, dancing, and playing outdoors, is helped through scans, as well as occupational and speech therapy.
The youngster, who suffers with asthma, has also learnt makaton, a form of sign language, for the times he is most frustrated.
Now, Emma is hopeful that her story will encourage other parents to be persistent if they feel their child has a genetic disorder.
She added: “I would say to anybody follow your motherly instinct.
“If it wasn’t for me pursuing the problems, I never would have got a diagnosis.
Emma, who has set up a Facebook page called “Our t8m star! — Jacob’s story”, is given plenty of support from her family, friends, the “Unique” support group and Jacob’s nursery.
Children and staff at the West Street site are today (Friday) dressing in purple and green, the trisomy awareness colours, so that they can “celebrate differences and what makes them unique”.
For more information visit www.rarechromo.org.