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Drugs trial's success brings hope for Hayley
A teenager with a rare genetic condition has received the results of a five-year drug trial which has so far proved a success.
Hayley Okines’ proud mother Kerry said it was the first ever effective progress which doctors have made in tackling the rare ageing illness Progeria which her daughter suffers from.
The 14-year-old has put on and maintained weight, her height has increased and her blood vessels have thickened and become stronger as a result of the trial.
Kerry said: “It has not reversed the disease but it has slowed it down.”
Progeria is described as an ageing illness because sufferers fast-forward in years and are particularly prone to heart attacks.
Hayley, who was told she would not reach her 13th birthday, is not free of Progeria but Mrs Okines said it was the best news the family had received since she was diagnosed as a toddler. Bexhill High School pupil Hayley was one of 28 Progeria sufferers internationally selected to take part in the drugs trial and was the third person in the world to receive the drugs.
Her mother received the wonderful news at the end of last month following gruelling trips to hospital in Boston, America, every four months where she underwent numerous tests including jabs, MRI scans and other procedures.
Mrs Okines was forbidden from discussing the results until they were published in a medical journal, as they have now been.
The 38-year-old, of Sidley, near Bexhill, told The Argus: “Five years ago when we started the trial we were quite nervous.
“Hayley was effectively a guinea pig but we thought we had nothing to lose. It was a lot for Hayley – there was a lot of travelling and medical procedures but it was worth it.
“When the doctors told us it was good news we were so pleased. The tablets won’t just help Hayley, they will help other people too including those with heart disease.
“It was definitely worth it.”
Hayley, who has permanently dislocated both hips and is now in a wheelchair, had to take two tablets twice a day. There are enough tablets left for a further 18 months of treatment and it is hoped more will be approved.
The study said: “Primary outcome success was predefined as a 50% increase over pretherapy in estimated annual rate of weight gain, or change from pretherapy weight loss to statistically significant on-study weight gain.
“Nine patients experienced a 50% increase, six experienced a 50% decrease, and ten remained stable with respect to rate of weight gain.
“Secondary outcomes included decreases in arterial pulse wave velocity and carotid artery echodensity and increases in skeletal rigidity and sensorineural hearing within patient subgroups.
“All patients improved in one or more of these outcomes. Results from this clinical treatment trial for children with Progeria provide preliminary evidence that lonafarnib may improve vascular stiffness, bone structure, and audiological status.”
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