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Children's Health

EVERY BABY BORN IN THE UK IS SCREENED FOR INHERITED METABOLIC DISEASES

Because of techniques we helped develop.

Disease screeningEvery year, of the 800,000 babies born in England, 600 of them will have an inherited metabolic disease (IMD). This can lead to dangerous imbalances of chemicals in the body, and ultimately, result in organ damage and disabilities. 

One of the major technical advances in newborn screening has been the development and increasingly widespread use of the tandem mass spectrometer. 

Evelina London Children's Hospital is internationally renowned for our work in using this device. As a result of this pioneering work, each baby born in the UK is now screened for IMD, so that treatment, if needed, can begin immediately. 

At Evelina London, donations allowed us to buy a state-of-the-art tandem mass spectrometers to develop new rapid diagnostic tests for newborns and acutely ill patients, and tests to improve treatment management. 

We are the regional IMD service for the South Thames region, which covers south London, Kent, Sussex, Surrey and beyond. We have outreach clinics as far afield as Plymouth, Cambridge and Norwich, and see more than 300 new patients each year. Our doctors treat patients with all types of IMDs, and at all stages, from prognosis to acute and long-term disease management. 

We're also working closely with our partners in the King’s College London genetics department to further our knowledge about IMDs and improve diagnosis and treatment. Because Evelina London is part of King's Health Partners (KHP), our work is supported by work done in the Division of Medical and Molecular Genetics at King's.

An important pilot we’re part of is to explore the potential of using mass spectrometer technology to expand the range of diseases screened for to include five more metabolic disorders. Though some of the diseases screened for are rare, as a group they are likely to affect one child in every 30,000. 

We're only able to do this screening because of the two tandem mass spectrometers we were able to buy through the generosity of supporters like you. 

Please help us carry on our work to improve the health and treatment of babies and children by making a donation today

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