To Breastfeed or Not:
PKU, Galactosemia, Other Rare Disorders
and Possible Misdiagnosis
Chris Hafner-Eaton
Corvallis, Oregon, USA
From: LEAVEN, Vol. 34 No. 4, August-September 1998, pp. 78-79
We provide articles from our publications from previous years for reference for our Leaders and members. Readers are cautioned to remember that research and medical information change over time.
A Leader receives a call
from a mother whose doctor has told her she must stop breastfeeding
because her child has a rare disorder. The mother has never heard of
the disease and is heartbroken to learn that she must stop nursing.
Medical details often become buried in emotions. This article addresses
some of the issues surrounding a mother's decision to breastfeed and
how a Leader can present information to her without giving medical advice.
A Leader needs to take extra
care to record details about pregnancy, complications of pregnancy/labor,
medications (baby and mother), birth weight, number of feedings in 24
hours, any supplements given, number of wet/soiled diapers, weight lost/gained,
preliminary diagnosis, etc. The Medical Questionnaire Form (No. 91 from
LLLI) can guide a Leader in taking such a history.
Two particularly 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 include: congenital
hypothyroidism, celiac disease, cystic fibrosis, hypoglycemia, true
lactose intolerance and cow's milk protein allergy. Incorrect diagnosis
is another possibility.
Internationally, many ministries
of health mandate that specific genetic screening tests be performed
while a woman is pregnant and/or after her baby is born. In nations
with planned national health schemes or public insurance programs, tests
are defended because there is 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.
Individual states may require other tests or procedures.
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. A second test is usually performed at a two-week checkup. In babies
testing positive for PKU, at least one more test should be performed
to confirm results.
According to Riordan and
Auerbach, "Breastfeeding an infant with PKU is not contraindicated
as was previously believed. Human milk has relatively low levels of
phenylalanine" when compared with cow's milk formulas. Miller and
Chopra and others 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 symptoms of thrush and/or sore nipples
because PKU infants are more prone to yeast growth.
Galactosemia
Galactosemia is also a metabolic
enzyme deficiency/absence condition which is transmitted through a recessive
genetic trait. Riordan and Auerbach 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 BOOK, page 308, this enzyme is heat-sensitive
and results may be skewed if the sample sits in a hot mailbox. Failing
to identify galactosemia may have dire results while false-positive
test results can lead to unnecessary weaning. Practitioners often err
on the side of weaning when there is doubt. Thus, mothers should be
encouraged to request an immediate retest with special handling. Such
testing may be difficult in areas where there is no reliable way of
protecting the sample from heat. There is no intermediate or partial
breastfeeding option for these infants. They must be totally weaned
promptly and fed a galactose-free formula such as Nutramigen. A bottle
or cup must be used; use of a supplemental nursing system is not possible
because it could allow ingestion of human milk. Note that this is a
very different situation than PKU, so a clear diagnosis is critical.
Infant Diarrhea
A third possibility where
practitioners recommend weaning originates from a possible misdiagnosis.
Infant diarrhea may result in more misdiagnoses than any other cause.
Both parents and practitioners need to recognize that a breastfed baby's
stool is normally looser and possibly more frequent than a formula-fed
baby's stool. If true diarrhea is determined, a Leader can ask the mother
what diagnosis was provided and why weaning is thought to be 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. Studies support the fact that breastfeeding should
continue. Human milk, unlike formula and other milk products that are
best avoided while the baby has diarrhea, is a natural fluid that is
easily and rapidly digested (Ewer 1994).
If the baby is dehydrated
enough to need rehydration, the practitioner may need to give fluids
intravenously. Even under these circumstances, breastfeeding may continue.
Often, diarrhea is self-limiting, but if it has continued for more than
a week or the baby is under one month old, something other than a passing
virus may be the cause.
Mothers are sometimes informed
by well-meaning practitioners that their babies are "allergic"
to their milk. It is important to find out exactly what was said and
under what circumstances. Did the practitioner recommend a trial of
temporary weaning or suggest that the mother alter her diet for at least
two weeks? If the baby has been diagnosed as lactose intolerant but
has been doing fine on breast milk, more information will be needed.
Primary lactose intolerance or primary lactase deficiency, 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 comes in. In this case, a special lactose-free formula must be
given. Lactose intolerance that does not originate from the time the
mother's milk came in is common in certain populations. It is caused
by a gradual decrease in the body's production of lactase. It cannot
be the cause of diarrhea in a child younger than three to five years
of age.
If a baby had been thriving
and a lactose intolerance diagnosis is given, the Leader may ask some
questions to determine whether mother or baby has recently had antibiotic
therapy (possible yeast overgrowth or thrush), a change in diet (possible
allergy to something in mother's/baby's diet or excess consumption of
fruit juice by baby) or a change in nursing pattern (possible foremilk/hindmilk
imbalance or even oversupply). Obtaining details about stool color,
viscosity, odor and frequency helps provide clues to the true underlying
cause of the diarrhea. Weaning due to misdiagnosis of lactose intolerance
can be minimized by providing mothers with solid research references
to share with their practitioners. Of course, we may also remind parents
that they have the right to seek a second opinion.
Leaders Providing Support
Clearly, these situations
present challenges for Leaders. Discussing the mother's feelings both
before and after completing the Medical Questionnaire Form is vital.
Once pertinent information has been gathered and the Leader has helped
a mother identify her feelings. ask her if she would like some resource
information. A Leader can provide the references in this article or
the BREASTFEEDING ANSWER BOOK for the mother and her practitioner. She
can also contact the Area Professional Liaison (APL) Leader for the
most up-to-date information. The PL Leader can access the LLLI Center
for Breastfeeding Information. A Leader may suggest retesting and/or
a second opinion to the mother; however, she may not directly question
the diagnosis. Listening carefully and asking the mother what she thinks
and wants can very helpful.
Remember, a rare medical
diagnosis puts stress on a mother and her family, so be clear, supportive
and patient. A follow-up call is a good idea. A mother who has been
told to wean or told that her baby has some illness may have concerns
that continue after the crisis moment is over.
References
Amir, L., Hoover, K., Mulford,
C. Candidiasis and Breastfeeding. LLLI Lactation Consultant Series,
New Jersey: Avery, 1995; 7.
Brown, K. Dietary management
of acute childhood diarrhea: optimal timing of feeding and appropriate
use of milks and mixed diets. Pediatrics 1991; 118 (4); S92-S98.
Brown, K., Lake, A. Appropriate
use of human and nonhuman milk for the dietary management of children
with diarrhoea. J Diarrhoeal Dis Res 1991; 9(3):168-85.
Ewer, et. al. Gastric emptying
in preterm infants. Arc Dis Child 1994; 71:F24-F27.
Grad, F. The Public Health
Law Manual, 2nd ed. Washington, DC: American Public Health Assoc,
1990; 9-25.
Lawrence, R. Breastfeeding:
A Guide for the Medical Profession, 4th ed. St. Louis: Mosby, 1995;
348.
McCabe, L. et al. The management
of breastfeeding among infants with phenylketonuria. J Inher Metab
Dis 1989;12:467-74.
Miller, S., Chopra, J. Problems
with human milk and formulas. Pediatrics 1984; 74:639-47.
Mohrbacher, N., Stock, J.
BREASTFEEDING ANSWER BOOK. Schaumburg, Illinois: LLLI. 1997; 280-83,
308-9, 312-13.
Riordan, J., Auerbach, K.
Breastfeeding and Human Lactation. Boston: Jones and Bartlett,
1993; 498-500.
Last updated Wednesday, October 11, 2006 by njb.
Page last edited Sun Oct 14 09:32:27 UTC 2007.
