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The South Australian Neonatal Screening Centre has produced an "Information for parents" booklet that can be downloaded by clicking here or on the image to the right. |
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In 1999, the South Australian Neonatal Screening Centre launched an expanded Neonatal Screening Program. This expanded program meant that babies could be screened much earlier for a larger range of inherited health problems known as ‘Inborn Errors of Metabolism’. By undertaking early testing for these inherited health problems, babies who would have gone on to develop serious health problems in the first few months of life are able to be treated much earlier to either prevent entirely, or greatly reduce, the effects of the problem on the baby for the rest of his/her life. As a baby, Jackson was the first child identified with a condition detected through the expanded neonatal screening program. Jackson suffers from an inherited disorder known as MCAD deficiency. This disorder affects the ability of the body to process fats. In times of stress or sickness, Jackson is unable to use his stored fat for extra energy. Having MCAD disorder means Jackson is at very high risk of serious illness if he gets sick with a cold or flu, or if he goes for a long time between meals. Once Jackson was diagnosed via his screening test, he was placed on a special dietary intervention – his parents know he must not go for long periods between feeds and if unwell, is fed more frequently on a special diet. As a result of this treatment and regular check ups with Dr Fletcher at the Metabolic Clinic at the Women’s and Children’s hospital, Jackson is growing up into a normal, healthy child. Without diagnosis and early treatment, 20% of babies with MCAD deficiency are at risk of coma and death.
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