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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 
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