Today marks one year since a proud Colne mum was told her little boy was living with a rare chromosome disorder.
And to highlight the date, Emma Crosby (25), of Granville Street, has spoken of the ups and downs she has faced since Jacob (4) was diagnosed with trisomy 8 syndrome (T8M).
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.
Emma was told her son had the syndrome by geneticist Dr Kay Metcalfe from St Mary’s Hospital, Manchester, 12 months ago. While she admits the news was initially difficult to absorb, and that Jacob does face many obstacles including extreme behaviour and speech difficulties, she has gone on to realise that her little star is as capable as any other child of living a healthy and happy life.
The mum, who has received plenty of support from friends, family and the “Unique” support group, said: “You get this diagnosis and you think it is the end of the world — but it is a label that you have to overcome.
“He still has his problems, like his asthma, vitamin D deficiency and issues with joints in his knees, but he is doing well.
“He is really really happy, really enthusiastic and keen to learn. I feel very lucky to have him, and he touches people’s hearts all the time.”
Since being diagnosed Jacob, a Newtown Nursery School pupil who is set to join Park Primary School in September, has been working hard to tackle his behavioural problems. This includes using a “Now and Then” board, to help him understand the concept of time.
For more information visit Emma’s Facebook page “Our T8M star! — Jacob’s story”.