A woman told she was unlikely to live beyond the age of 12 has stunned doctors by reaching 33 – almost three times as long.
Emily Chanter was diagnosed with a rare genetic condition known as ataxia-telangieectasia when she was a child.
Her family were warned that people with the same degenerative disorder rarely saw their teens.
The condition, known as A-T, affects the parts of the brain which co-ordinate movement and the body’s immune system.
It can lead to problems swallowing, difficulty talking, lung and posture problems – and also carries an above-average risk of cancer.
But to the delight of her family Emily has lived for 21 years since the grim diagnosis in her childhood.
She knows she is virtually living on borrowed time but does not let it stop her from living life to the full.
Her mother Marian Barber, 53, said: “If you have no A-T protein we were told you are not likely to live beyond the age of 12.
“In Emily’s case we have found that she does have a little bit of A-T protein.
“She has lost friends and people she has known at college who had A-T. She has lost far more people than I have done and I am much older than she is.”
Marian first noticed signs that something was not right when Emily was a toddler but it took another 11 years for A-T to be diagnosed.
It was not until she went to a special secondary school for children with physical disabilities that a teacher suggested she might have it.
By 1991, when Emily was 12, a blood test for the condition had been developed and her teacher’s suspicions were confirmed.
Other people of her age with A-T have died from complications with eating and problems with their lungs but Marian said Emily was fortunate not to suffer a lot of coughs or colds.
She could walk as a toddler but by the age of seven or eight had trouble getting around and now needs a wheelchair all the time.
She can still hold a phone but her mother said that within a few years she will probably lose that ability due to the weakness of her muscles.
Marian said: “One of the difficult things is that, as her body degenerates, it’s not the same as premature ageing but the effect is the same.
“It is what most of us hope won’t happen until we are in our 90s.”
She said despite her uncertain future Emily remains upbeat.
She added: “Emily is a very positive young woman. She says ‘there are several things I regret in my life and one is that I’m disabled’.
“She really is so happy. She certainly wants to live her own life and wants to do stuff.
“Emily has a fine brain and went through school and college but isn’t able to speak all that clearly.
“There is a sense of being trapped in a body that doesn’t work.”
Marian, of Weston-super-Mare, Somerset is a trustee of the A-T Society which promotes research and awareness into the condition and says the charity is a lifeline.
With increased understanding of the condition, precautions can be taken to reduce its effects and give people more chance of living longer with a better quality of life.
Marian said: “With A-T there is a much increased risk of various cancers, particularly breast cancer.
“Another problem is that if Emily does develop cancer she cannot have radiotherapy because one of the features of A-T is that you suffer greater damage from radiation.”
For more information about the A-T Society visit www.atsociety.org.uk