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.
Lisa Hawker says 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.
When Jaydi was nearly one, Dr Kivuva offered a place on the Deciphering Developmental Disorders study. This large study aimed at diagnosing rare genetic disorders ultimately helped in identifying the mutation affecting Jaydi.
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