Living with a rare disorder and screening – an introduction

6Newborn Screening helps to diagnose babies with rare metabolic disorders in the first few days of life. These conditions can cause serious illness, which can result in death or serious disabilities. Screening offers a window of opportunity to keep these children well, and with support they can live normal lives.

This film was made as part of a pilot project to evaluate whether five new conditions should be tested for in England. As a result of the project screening for four of the conditions (MSUD, GA1, HCU and IVA) will be available in England from early 2015.

Please click here to view the full video

Please click here to view Noah and Ruby’s story.

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