Lisa HawkerThe family of a young girl say her life was saved after a pioneering study was able to diagnose her incredibly rare genetic disorder, leading to better treatment.
Jaydi Hawker, 11, has a form of dwarfism thought to affect fewer than 50 people in the world.
There are thousands of such genetic disorders and, collectively, they affect one in 17 people in the UK.
Jaydi was part of a study pushing the limits of genetic analysis to get families a diagnosis.
The disorders are caused by mutations in our DNA, which damage crucial instructions for how our bodies should work.
Parents and doctors will spot something wrong with a child’s development but discovering the cause – the specific mutation in our entire genetic code – is often elusive.
Jaydi’s mum Lisa Hawker says she first knew something was wrong when a pregnancy anomaly scan highlighted unusual brain development.
Jaydi was born at 31 weeks, weighing just 2lbs (0.9kg) and continued to grow and develop slowly.
“She was so tiny, smaller than a doll, even dolls' clothes were too big,” says the single mum from Seaton, in Devon.
Jaydi left hospital only a week before her first birthday.
Lisa HawkerJaydi was fed via a nasogastric tube to provide food and liquid into her stomach"She just wasn’t putting on weight despite having tube feeds, extra calories, and also her development was delayed and we just didn’t know what was going on," says Dr Emma Kivuva, clinical geneticist at the Royal Devon University Healthcare NHS Foundation Trust.
A genetic disorder was suspected but no amount of testing confirmed it.
Lisa says: “It was not knowing why she wasn’t growing, why her head was so little.
“It was really stressful, I blamed myself, did I do something wrong? Did I not eat enough or drink enough or wait too long in life? And just driving yourself crazy not knowing.”
