I'm not a MD, but my understanding is that if a baby has "true" Galactosemia,
there will be signs (including liver damage, possibly cataracts) from birth, and
unmistakable milk intolerance.  (Duarte Galactosemia may be more difficult to
identify at first.)  I'd have to go along with this Ped's instinct and recommend
continued breastfeeding in an otherwise normal, healthy baby.

This actually happened to me 6 years ago; my Family Practitioner/Pediatrician
advised me to stop breastfeeding my newborn, even though she was perfectly
healthy and tolerating milk fine.  (I followed my gut instinct and didn't wean
at the time, although I did for about 2-3 days after a repeat screen.)  It
turned out that our middle daughter is a *double* carrier of both "true"
Galactosemia and the variant Duarte Galactosemia.  Her enzyme activity was
significantly decreased (to about 25% of normal), but she had sufficient
activity to carry on *almost exclusive* breastfeeding (no more than 1-2 bottles
of lactose-free ABM per week) until she started adding solids at about 6 months
and weaned soon after her birthday.  I have heard that other children with this
carrier status have had to maintain restricted milk intake, but Leah absolutely
LOVES milk and dairy products and has never had a problem.  We did continue to
check her galactose-1-phosphate levels until we knew she was "out of the woods."

As far as state screening goes, I'm glad it exists, but I FIRMLY believe that
before ANY information is given to parents from a state screen, the practitioner
should know what he or she is talking about.  It is one thing to know what
Galactosemia is and to know that babies with it shouldn't drink milk, but it is
another thing to realize that a positive *screen* does NOT mean that a baby HAS
Galactosemia or necessarily should wean, when all other signs and symptoms are
negative.  I think the liability of misinterpretation is too significant for a
"NB Screening Nurse" to be calling parents and giving advice about feeding
methods -- (my opinion.)  Although our doctor made an unnecessary recommendation
to wean, he also did make an immediate referral to a Pediatric Endocrinologist,
which I highly recommend to any others in this situation ... the testing and
information we got with this MD was VERY helpful and comforting.  (Ours happened
to be a formerly breastfeeding Mom who knew how significant breastfeeding was to
us!)

This may seem elementary, but it might be helpful to assure the parents that
Galactosemia is a genetically inherited disorder, and its presence or absence is
determined at conception; just because a baby has a positive screen (which
usually indicates some variation of a carrier status) doesn't mean that he/she
can develop it later ... they either have it or they don't.

As far as the unnecessary advice and the parents' distress, this could have been
avoided with a different *process* in place.  I would recommend this incident be
reported as a patient and/or staff complaint/adverse outcome to the Performance
Improvement or similar person at your facility so that the facility as a whole
can look at the *process* of receiving information from state newborn screens
and how they handle this information (including *who* handles it) ... hopefully
more appropriately in the future than was done in this case.  If you don't do
something about the process, you can expect it to happen again.

Been there, done that,
Sandra McMillan, RD
Saint Eugene Medical Center
Dillon SC

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