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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).
A highly elevated GAL level of > 13 mg / dl usually means that
the infant has galactosemia. This is especially true if the infant
has any of the clinical signs associated with this disorder (see
under the "examination" section in introduction). 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 child's life. However, if not treated preventatively,
children can develop mental retardation, liver disease, 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.
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 milk free diet. Further counseling,
treatment and a more detailed assessment and testing of the infant
is required;
therefore contact metabolic physician
for markedly elevated GAL 
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