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Brave Isabel inspires Jeans for Genes day
9:20am Wednesday 3rd October 2012 in News
WEARING their denims with pride in time for Jeans for Genes day is ‘one of the bravest girls’ Isabel Machin and her mum Andrea.
Eight-year-old Isabel is hoping to raise awareness of the charity tomorrow, Friday, after she was diagnosed with a genetic disorder so rare it does not have a name yet.
Doctors told Isabel’s parents Andrea, aged 40, and Matt, aged 36, their child may never walk or talk but the youngster has proved everyone wrong and now attends Green Lane Community Special School.
Andrea, of Stonehaven Drive, Cinnamon Brow, said: “She is the most amazing child, always happy and rarely cries.
“And she is the bravest child I have ever met considering what she has to put up with.”
Isabel was diagnosed with cataracts aged 18 months and then later cerebral palsy and a form of epilepsy.
Doctors thought the conditions could be linked but did not know how until after seven years a professor in Amsterdam found where the genetic abnormality was and that Andrea had the same one.
She said: “We couldn’t believe they had actually found something and then when I was tested that it must have come from me.
“We had come to terms with her disability by then so it was just trying to find a reason for it.
“We’re both unique because nobody else has got what we’ve got.”
The couple do not know what the future holds for Isabel, who currently has the mental age of a four-year-old and may need major surgery but have thanked Warrington charity Families United for their support.
As one of the benefitting charities of Jeans for Genes day, the charity have helped Andrea from the start and she is now charity chairman and enjoying helping others.
She added: “I was in a dark place and having counselling but nobody can understand unless you have been through it yourself.
“All the parents at the group have children with disabilities and provide a great support network and arrange group activities that you wouldn’t be able to do on your own with your child.”
For more details visit familiesunited.org.uk.
Jeans for Genes Day invites everyone to wear their jeans to work or school and make a donation to charity which supports families affected by genetic disorders.