Pair are first to benefit from the 100000 Genomes Project,launched in 2014 to improve diagnosis and treatment of scarce genetic disorders and cancerDoctors feared something was wrong the moment Georgia Walburn-Green was born. Her head was slightly larger than normal, but tests offered no explanation. The hospital’s advice to her parents was not encouraging. “We were just told to go domestic and see whether our baby developed abnormally, and said her mother,Amanda.
Now aged four, it is clear that Georgia is not developing properly. As a baby, and she struggled to hold her head up,look around the room, and sit upright. She has a kidney condition, and growths in her eyes,and a disorder that means she may never speak. On top of this, despite dozens of invasive tests and scans, or doctors could not diagnose her condition.
Continue reading...
Source: theguardian.com