Jaydi Hawker, a young girl with an extremely rare genetic disorder, has had her life saved thanks to a pioneering study that allowed doctors to diagnose her condition and provide better treatment. With fewer than 50 people thought to be affected by her form of dwarfism in the world, Jaydi was part of a study pushing the limits of genetic analysis to provide families with a diagnosis. Thousands of such genetic disorders affect one in 17 people in the UK.
Jaydi was born at 31 weeks and weighed just 2lbs, growing and developing at a slow pace. Her mother, Lisa, first suspected something was wrong when a pregnancy scan highlighted unusual brain development. Despite numerous tests, identifying the specific mutation in Jaydi’s genetic code proved elusive. It was not until she was four that a detailed analysis of her DNA found she had lig-4 syndrome.
The diagnosis allowed clinicians to compare Jaydi’s symptoms with other cases of lig4 from around the world, and to establish that she was at increased risk of leukaemia. Rather than wait for this eventuality, an immediate bone marrow transplant was agreed, and Jaydi and Lisa spent six months in a sterile room to reduce the risk of infection. Today, with her bloods back to normal and at school, Jaydi is described as “really happy and healthy at the moment”.
Jaydi and Lisa were among 13,500 families that have taken part in the Deciphering Developmental Disorders study, the largest ever of its kind. Conducted between the NHS, universities, and the Sanger Institute, the study identified 60 new genetic diseases and provided a diagnosis for the first time to around 5,500 families. A more recent study, led by the University of Exeter and the Royal Devon University Healthcare NHS Foundation Trust, found that, in 28% of families, diagnosis prompted changes to how the condition was clinically managed, and in 3% of cases led to specific new therapies.
As genetic testing and whole genome sequencing become more widespread, it is hoped that more families will be diagnosed as early as possible, leading to greater possibilities for genetic therapies. However, Jaydi’s future remains uncertain. The lig-4 syndrome increases the risk of tumours in other parts of her body, making regular follow-up and monitoring a necessity
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