At the request of several people, I'm posting this article (it is
referenced-email me if you need them or see the LEAVEN issue)

To Breastfeed or Not: Galactosemia, PKU, Other Rare Disorders, and Possible
Misdiagnosis (published in Leaven 1998--I believe this past summer)
by Chris Hafner-Eaton, PhD, MPH, CHES, IBCLC

        I can just feel the lump in all your throats as though you just
received a call from a mother whose doctor has said "you must stop
breastfeeding because your child has a rare disorder xxxemia."  First, you
may have never even heard of the problem, and second, it always breaks your
heart to hear "must stop nursing."  Here is where Leaders must take extra
care to conduct a thorough lactation and medical history and record details
including gestation, complications of pregnancy/labor, medications (baby
and mother), birth weight, number of wet/stooled diapers, weight
lost/gained, any preliminary diagnoses, etc.  That handy Medical
Questionnaire Form (MQF) plays a vital role  in guiding Leaders through
such a history or "intake," as it is referred to in many clinics.
        Of course you must still utilize those HRE active listening skills,
but in situations such as these, medical  details often become buried in
emotions--parents' and physicians'.  Two particular rare metabolic
disorders, Phenylketonuria (PKU) and Galactosemia, result in more than
their proportionate share of crisis breastfeeding calls because physicians
frequently recommend immediate weaning.   Other conditions that you may
hear about include: congenital hypothyroidism, celiac disease, cystic
fibrosis, hypoglycemia, true lactose allergy , and cow's milk protein
allergy.  Another possibility in this discussion of
practitioner-recommended weaning is that of incorrect diagnosis.  I will
briefly address some of the issues surrounding the decision whether to
breastfeed and how to present this information without giving medical
advice.
        Internationally, many countries' Ministries of Health mandate that
specific genetic screening tests be performed while a woman is pregnant
and/or after her baby is born.  In most cases, nations with intentionally
planned national health schemes or public insurance programs, tests are
defended because there is a great public interest in early detection.
While the US has no national policy on neonatal screening, all states
individually require that infants be screened for at least PKU and
hypothyroidism.1  The reasoning behind this lies in the fact that public
health responsibilities fall to the states, and under the states' police
powers granted by the Constitution, individuals may be required to submit
to certain tests or procedures.2

Phenylketonuria (PKU)
        PKU testing, although common, is not without controversy.  The test
is targeted at identifying infants who, because of a liver enzyme
deficiency, cannot metabolize phenylalanine, one of 20 essential amino
acids.  Without this early identification, PKU infants usually fail to
develop normal neural pathways in the central nervous system and brain.
The validity of performing mandatory PKU tests 48 hours after birth has
been questioned because of the high false negative rate, so a second test
is usually performed at the two week check-up.   In babies testing positive
for PKU, at least one more test should be performed to confirm results.
        According to Riordan and Auerbach,3 "Breastfeeding an infant with
PKU is not contraindicated as was previously believed.  Human milk has
relatively low levels of phenylalanine," when compared with
low-phenylalanine formulas.  Miller and Chopra4 and others5 recommend that
total or partial breastfeeding should be encouraged in the PKU infant.  In
addition, these infants should have their phenylalanine blood levels
monitored regularly.  Leaders might forewarn mothers to watch for thrush
and/or nipple yeast because PKU infants are more prone to yeast
overgrowth.6

Galactosemia
        Galactosemia is also a metabolic enzyme deficiency/absence
condition, which is transmitted through a recessive genetic trait.
Riordan and Auerbach7 state the incidence of Galactosemia as one in every
85,000 births or about 47 infants per year in the US.  Infants lacking a
critical liver enzyme--responsible for converting galactose to
glucose--risk severe mental retardation and liver damage.   The symptoms of
Galactosemia are vague, especially since the newborn appears normal.
However, soon after birth mothers report that their infants have profuse
vomiting, poor weight gain, wasting, and lethargy.   This usually prompts
them to seek medical attention and testing, (or perhaps phone La Leche
League first).   As stated in the Breastfeeding Answer Book8 (p. 224), this
enzyme is heat sensitive and results may be skewed if the sample sits in
hot mailboxes.  Unfortunately, erroneous false positive test results may
lead to unnecessary weaning, but not identifying Galactosemia has dire
results.   This false result may lead practitioners to err on the side of
weaning whether there is doubt.  Thus, mothers should request an immediate
retest with special handling.   Such testing may be difficult in areas
where no reliable "cold-chain" exists.  There is no intermediate or partial
breastfeeding option for these infants.  They must be totally weaned
promptly and fed galactose-free formula such as Nutramigen from a bottle or
cup--not a supplemental nursing system (which continues to allow breastmilk
passage).  Note that this is a very different situation and outcome than
that of the PKU infant, so being clear on the diagnosis given is critical.


Misdiagnosis: The case of infant diarrhea
        The third possibility where practitioners recommend weaning
originates from a possible mis-diagnosis.   Infant diarrhea probably
results in more misdiagnoses than anything else Leaders hear about, so I
will focus on this.  First, we must educate parents and practitioners that
breastfed babies' stools are normally looser and maybe more frequent than
formula fed babies.   Once you've determined that this truly is diarrhea
(see the BREASTFEEDING ANSWER BOOK, REVISED EDITION, p. 280-283), ask the
mother "What diagnosis the practitioner provided?" and How did s/he come to
this conclusion that weaning is necessary?"   Worldwide, diarrhea is the
leading cause of infant death, so Leaders need to take this seriously.   In
some areas of the world, including parts of the US, physicians have been
taught that diarrhea is an indication for temporary weaning and the feeding
of oral rehydration therapy or electrolyte solution (or worse yet, canned
peach syrup).  Breastfeeding should almost always be continued.  "Only in
artificially fed babies is it sometimes beneficial to eliminate milk
feedings during bouts of diarrhea." 9 10  If the baby is dehydrated enough
to need rehydration, then  the practitioner  "may need to give fluids
intravenously.  Even under these circumstances, breastfeeding may
continue."11  Often, diarrhea is self-limiting, but if it has continued for
over a week or the baby is under one month old, something besides a passing
virus may be the cause.
        Mothers are sometimes informed by well-meaning practitioners that
their babies are "allergic to their breastmilk."  Please resist the
temptation to either laugh or say "S/he doesn't know what the heck they're
talking about."  Calmly find out exactly what the practitioner said and
under which set of circumstances.   Did the practitioner recommend a trial
of "temporary weaning," or suggest that the mother alter her diet for at
least two weeks?    If a practitioner has pronounced that the baby is
lactose intolerant, but the baby previously had been doing fine on
breastmilk, a red flag should spring up in Leaders' minds.  Primary lactose
intolerance--where baby is lacking lactase from birth--is exceptionally
rare but immediately apparent by profuse diarrhea and vomiting from the
time the mother's milk came in.  In this case, a special lactose-free
formula must be given.   Non-primary lactose intolerance (all other lactose
intolerances not originating from the time milk came in), is the kind that
adults report gets worse with age and "cannot be the cause of diarrhea in a
child younger than four or five" years of age.12
        If, as in most cases Leaders see, the baby had been thriving and a
practitioner gives the lactose intolerance diagnosis, the Leader may probe
a bit to determine whether mom or baby have recently had antibiotic therapy
(possible yeast overgrowth or thrush)13, a change in diet (possible allergy
to something in mother's or baby's diet, or baby's excess consumption of
fruit juice)14, or a change in nursing pattern (possible foremilk/hindmilk
imbalance, or even over-supply).    Obtaining what I call the gory details
about stool color, viscosity, odor, and frequency helps provide clues to
the true underlying cause of the diarrhea.  We can minimize weaning due to
misdiagnoses of  non-primary lactose intolerance by providing mothers with
solid research citations to bring to their practitioners, thereby
depersonalizing the fact that they are questioning the diagnosis.  Of
course, we may also remind parents that they have the right to seek a
second opinion.

Leaders Providing Support
        Clearly, the above situations present challenges for you as a
Leader.  Discussing the mother's feelings both before and after obtaining
the Medical Questionnaire Form information is vital.  Once you have
gathered pertinent information and hopefully helped the mother identify her
feelings, feel at liberty to ask the mother if you can promptly call her
back after you've checked your resources.  If the physician has given the
mother what you or the mother perceive as an inaccurate breastfeeding
recommendation, then you've got your work cut out for you.  Leaders can
provide the citations in this article or the BREASTFEEDING ANSWER BOOK for
the mother and her practitioner, and provide support as needed.  Leaders
confronted with the rare disease questions should call or write to their
Area Professional Liaison for the most up-to-date information.  In
addition, we may help the mother and practitioner access the Center for
Breastfeeding Information.  Leaders may suggest that the mother may want
retesting and a second opinion; however, Leaders may not directly question
the diagnosis (i.e. avoid saying "your doctor has no idea what's going
on").   If you are listening carefully and sense that the mother questions
the practitioner, ask her what she thinks and wants...don't assume.
        Remember, rare medical diagnoses alone are enough to put stress on
the mother and family, so being very clear, supportive and patient are even
more important now than ever.   I believe that follow-up is also an
essential component of these cases.  Mothers who have been told to wean or
told that their baby is less than "perfect" will undoubtedly have concerns
after the crisis moment is over.

References in Leaven and available from me upon request.



: )Chris Hafner-Eaton, PhD, MPH, CHES, IBCLC  email: [log in to unmask]  : )
: )HSR & Health Educational Consultant        voice/fax: 541 753 7340   : )
: )------------**CHANGE THE WORLD, NURTURE A CHILD!**------------------ : )