The range of views on breastfeeding an asymptomatic baby with questionable
galactosemia screen results has been considerable!  Let's see if I have
understood all the different comments.
-- An asymptomatic baby can keep nursing till the next test results are in.
-- A baby may have true positive results and genuinely impaired (though not
absent) enzymatic activity, yet may continue well and need little
supplementation with lactose-free formulas.  (If I understood correctly...)
-- Positive results on the screen may indicate carrier status in the baby,
which may or may not be accompanied by some degree of the illness itself.
(Ditto...)
-- Galactosemia will manifest immediately with severe symptoms.
-- Permanent severe damage may occur very quickly even in an asymptomatic
baby, meaning that immediate (hopefully temporary) weaning to a
lactose-free formula is advisable if the screen results are questionable.

It's hard to reconcile all these statements.

Lawrence (5th ed p408) defines galactosemia as "a hereditary disorder of
the metabolism of galactose-1-phosphate" and states, ***"The lack of
galactose-1-phosphate uridyltransferase activity may be relative or
partial."***  Similarly, "The definitive diagnosis is the identification of
absence ***or near absence*** of galactose-1-phosphate uridyltransferase
activity in RBC hemolysates."  (My emphasis obviously.) She describes a
spectrum of symptoms ranging from "fulminating" to "subtle" and recognizes
the existence of "mild cases".
        She does say that upon diagnosis the treatment requires "prompt weaning
from breast milk to prevent further insult to the liver, kidneys, and
brain."  However, this seems to me to apply to the severe cases and not the
mild ones.  After all, every successfully breastfed infants will receive
breastmilk anyway until the first screen results come back, say at 6 days
as in the case mentioned by Lisa Marasco.  Lawrence's description strongly
implies that the level of symptoms indicate the severity of the disease.
Thus, a baby who remains asymptomatic after several days of breastmilk is
not secretly suffering horrific damage but rather has a less severe
deficiency of that liver enzyme whose name I decline to type in one more
time.
        And, of course, an apparently thriving healthy baby with no jaundice,
liver/spleen enlargement, vomiting, cataracts etc. may simply have a false
positive result.  The Breastfeeding Answer Book p308 says that false
positives are common especially in warm weather, because the enzyme is
sensitive to heat and may go poof, or something, in blood samples that
aren't kept cool.  (Note that Lisa Marasco's post is about a false positive
in May or June in Santa Maria, California.)
        To sum up.  (1) Galactosemia is very rare.  (2) It is not absolute but
appears in different degrees and can be mild, with minimal or no damage
resulting from a week or two of exclusive breastfeeding in the newborn
period.  (3) In severe cases, damage will be blatant, not sneaky.  (4)
False positive test results can occur and are far more common than the
illness itself.  (5) All formulas have extensive, well-documented
deleterious consequences for the baby, and interruption of direct
breastfeeding has a negative impact on the new mother as well.
        Given these facts (subject to correction/further information) I really
doubt that every positive newborn screen result should, in and of itself,
mandate several days of soy formula.  Wouldn't it make more sense to
suggest that course only for babies with a double whammy: some symptoms,
*plus* a positive or questionable test result?
        This is suggested by the Breastfeeding Answer Book p309: "***After
evaluating the baby's health***, the baby's doctor can advise the mother
***whether or not*** she should wean her baby to a special galactose-free
formula until the baby's second test results are received."

Elise
LLLL
Bath, New Hampshire, USA

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