'Amazing' DNA test diagnoses baby's rare condition
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'Amazing' DNA test diagnoses Harlow baby's rare condition

The parents of a baby who became seriously ill at six months old said a state-of-the-art genetic test to diagnose her rare illness was "amazing".

Ellie-Rose, now 18 months, from Harlow, Essex, developed breathing problems and spent a month in intensive care but doctors struggled to work out what was causing her paralysed diaphragm.

They then used whole exome sequencing, a form of genome sequencing only available to intensive care babies on the NHS since January, which diagnosed Methionine Synthase Deficiency - a genetic condition that affects fewer than one in a million people.

Her father Lee Vincent said: "Coming home with a happy child was something we didn't know we'd be able to so, so it's amazing."

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  • 08 Jul 2020
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