Baby screening programme hailed a success

The NHS Newborn Blood Spot Screening Programme, which diagnoses rare diseases in babies, has been hailed a success.

Public Health England said the system, which screens for the potentially fatal condition medium-chain acyl-CoA dehydrogenase deficiency (MCADD), saves the lives of about a dozen babies every year while more than 1,000 are identified as having a high risk condition.

Marking World Rare Disease Day today (28 February 2014), Dr Anne Mackie, director of programmes for the UK National Screening Committee, part of Public Health England, said: “Last year over 650,000 babies were screened through the programme and 1,287 were identified as high risk for conditions that include sickle cell disease, cystic fibrosis and MCADD.

“Screening for MCADD saves approximately 12 children’s lives a year. Early identification, leading to treatment, helps ensure these babies can go on to live full and happy lives.”

MCADD makes it hard for the body to break down fats and produce energy. It affects 1 in 10,000 babies born in the UK and if left untreated the condition almost always causes severe developmental problems, including serious mental disability or even death.

Sasha Hing was diagnosed with MCADD after she was tested through the NHS Newborn Blood Spot Screening Programme.

Sasha’s mother, Karyn Hing, said: “Sasha was diagnosed following the newborn test. I can recall the phone call from our GP to say that Sasha had something called MCADD. I phoned my husband and was, as you can imagine, quite distressed trying to explain what it was.

“Once we had our consultant appointment the next day we had a clearer explanation and felt more in control. We were given a treatment plan and were reassured that our local hospital would be ready in case of any urgent concerns. Our consultant is great and the support offered by The National Information Centre for Metabolic Diseases has been a huge help.

“Sasha is a very warm hearted, happy girl. She attends nursery four days a week and as a result of the treatment plan, is able to enjoy a ‘normal’ life.”