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| Baby screening: Life-saving scheme expanded | Baby screening: Life-saving scheme expanded |
| (about 4 hours later) | |
| Newborn babies across England will be screened for more debilitating genetic diseases from Monday. | |
| Cystic fibrosis and sickle cell disease are already picked up in the heel-prick blood test. Four rarer conditions will now also be tested for. | Cystic fibrosis and sickle cell disease are already picked up in the heel-prick blood test. Four rarer conditions will now also be tested for. |
| Public Health England expects 30 cases will be identified each year, allowing life-saving treatment. | Public Health England expects 30 cases will be identified each year, allowing life-saving treatment. |
| Wales will follow suit later this month, while Scotland and Northern Ireland have yet to make a decision. | Wales will follow suit later this month, while Scotland and Northern Ireland have yet to make a decision. |
| Babies currently have the heel-prick test at between five and eight days old to check for: | Babies currently have the heel-prick test at between five and eight days old to check for: |
| The baby's heel is pricked and drops of blood are collected and analysed, so babies can get the treatment and support they need from the earliest stage possible. | The baby's heel is pricked and drops of blood are collected and analysed, so babies can get the treatment and support they need from the earliest stage possible. |
| The extra conditions which will now also be tested for are: | The extra conditions which will now also be tested for are: |
| They are all inherited conditions where babies have problems breaking down amino acids, the "building blocks" of proteins. | They are all inherited conditions where babies have problems breaking down amino acids, the "building blocks" of proteins. |
| For example, maple syrup urine disease is caused by a build up of three amino acids: leucine, isoleucine and valine. | For example, maple syrup urine disease is caused by a build up of three amino acids: leucine, isoleucine and valine. |
| Too much protein in the diet can lead to coma and permanent brain damage. However, early detection means a low protein diet and food supplements can reduce the impact of the disease. | Too much protein in the diet can lead to coma and permanent brain damage. However, early detection means a low protein diet and food supplements can reduce the impact of the disease. |
| Life-saver | Life-saver |
| A year-long pilot programme of expanded screening, run by Sheffield Children's NHS Foundation Trust, found 20 confirmed cases of the four extra conditions, in 700,000 babies. | A year-long pilot programme of expanded screening, run by Sheffield Children's NHS Foundation Trust, found 20 confirmed cases of the four extra conditions, in 700,000 babies. |
| Dr Anne Mackie, director of programmes for the NHS Screening Programmes, said: "Screening for these rare disorders has the potential to benefit around 30 children in England each year. | Dr Anne Mackie, director of programmes for the NHS Screening Programmes, said: "Screening for these rare disorders has the potential to benefit around 30 children in England each year. |
| "The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions." | "The early identification of these conditions can prevent death and significantly improve the quality of life for those living with these conditions." |
| Wales has committed to starting screening on 12 January. | Wales has committed to starting screening on 12 January. |
| Public health minister for England Jane Ellison added: "This is really welcome news. | Public health minister for England Jane Ellison added: "This is really welcome news. |
| "Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders. | "Expanding the screening has the potential to make a huge difference to the lives of babies born with rare genetic disorders. |
| "Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected." | "Detecting the disorders early can help prevent babies being severely disabled or even dying, which is absolutely vital for the families affected." |
| Case study | Case study |
| Poppy Bell-Minogue was nine months old when she became unwell. | Poppy Bell-Minogue was nine months old when she became unwell. |
| Unbeknown to her parents, she had maple syrup urine disease, which had lead to a harmful build-up of amino acids in the blood and was affecting her brain. | Unbeknown to her parents, she had maple syrup urine disease, which had lead to a harmful build-up of amino acids in the blood and was affecting her brain. |
| For Poppy's mum, Samantha, and her husband, an early diagnosis of the disease would have made a huge difference. | For Poppy's mum, Samantha, and her husband, an early diagnosis of the disease would have made a huge difference. |
| Instead, they had to undergo several months of tests and brain scans before doctors diagnosed the rare disorder. | Instead, they had to undergo several months of tests and brain scans before doctors diagnosed the rare disorder. |
| In the meantime, Poppy's parents were told they would probably lose her. | In the meantime, Poppy's parents were told they would probably lose her. |
| Samantha says Poppy's diet from birth would have been different, if they had known: "We wouldn't have given her breast milk, formula milk or food high in proteins after she was weaned." | Samantha says Poppy's diet from birth would have been different, if they had known: "We wouldn't have given her breast milk, formula milk or food high in proteins after she was weaned." |
| Eating these foods made her condition worse and led to high levels of harmful amino acids in her body which may have damaged her brain. | Eating these foods made her condition worse and led to high levels of harmful amino acids in her body which may have damaged her brain. |