Genetic Testing Diagnoses 30 Percent Of Children With Rare Conditions
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Sources · 7 independent
“the NHS says there are around 6,000 children born each year in the UK with genetic conditions. So rare, they remain undiagnosed and unnamed.”
“it's children and young people that are diagnosed, undiagnosed with a sort of rare genetic condition, but we don't have a name for it yet”
“It's helping sort of emotional support, it's advocating for the families, helping empower them to sort of be able to sort of navigate the system as well because it's so complex.”
“It's helping sort of emotional support, it's advocating for the families, helping empower them to sort of be able to navigate the system as well because it's so complex”
“It's helping sort of emotional support, it's advocating for the families, helping empower them to sort of be able to navigate the system”
“It was thanks to a nurse who knew about her position and recommended that we speak to her.”
“with the genetic testing that they have now, just over 30% of children find diagnosis so that's still such a large portion of children that never find a diagnosis.”
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