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Discussion with Parents

Response to a reported newborn screening result must be undertaken in two parts;

1. Initial contact with the family, often by phone, to inform them of the newborn screening result.
2. Meeting with the family at the office.

Initial communication
Many parents want to know what the result is testing positive for and are reassured if their doctor has knowledge of galactosemia or has taken the time to find out about the condition when informing the family (see commonly asked questions).
An elevated GAL level of 6 -13 mg / dL may mean that the infant has galactosemia or that the infant has a benign variant such as Duarte galactosemia. Galactosemia is a disease in which galactose, a sugar in milk, is not converted to glucose. It is TREATABLE and if managed appropriately will save the childıs life. However, if not treated preventatively, children can develop mental retardation, liver failure, clotting defects, cataracts and have a very high risk for developing E.coli sepsis which can result in meningitis or death. As the mainstay of treatment is prevention, it is essential that they arrange to see a metabolic doctor as soon as possible.
The Duarte variant appears not to cause disease and does not require treatment. This condition occurs when the infant has one gene for classical galactosemia and one for the Duarte variant. It is picked up in newborn screening as the enzyme activity is reduced to approximately 25% of normal and therefore elevated galactose levels occur. However, it is important to emphasize that this appears to be sufficient enzyme activity, (and insufficient galactose levels to cause harm!).

In the office
Many parents do not understand newborn screening or the need to treat their apparently healthy baby.

Parental anxiety will be high and it is important to reassure them that
   •Treatment is available.
   •Treatment may be instituted while the diagnosis is confirmed. If the baby is found to have a benign galactosemia variant it will be quite safe to return to breast feeding or regular formula and no harm will have come to the baby by having a milk free formula during the interim period of confirmatory testing.
   •But note that failure to treat a baby with galactosemia may result in life threatening illness that could produce mental retardation, visual deficit or death.

Treatment for galactosemia is based on ensuring that plasma levels of galactose, and its derivatives, Gal-1-P and galactitol, are kept as low as possible through having a lactose, and hence galactose, free diet.

Further counseling, treatment and a more detailed assessment and testing of the infant is required;
therefore contact metabolic physician for elevated GAL

 

Instructions
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