At the request of a local LLL leader, and the mother involved, I am posting
this in hopes of getting some information for them.  I also believe that
this is a very rare case that Lactneteers would be interested in.

This mother has a 5 1/2 month old daughter who was found to be galactosemic
through the routine testing done at birth in Virginia.  The test indicated a
borderline condition, and because (as I understand it) test samples can
easity deteriorate if exposed to heat, the assumption originally was that it
was a false positive, because the baby was apparently healthy and
breastfeeding well.  Two more tests were done, with the same results, and it
was determined that she actually is borderline galactosemic.  Standard
treatment would be removal of all milk from the baby's diet, replacing it
with soy abm.  However, this child has absolutely and adamantly refused to
take any abm and because of her "borderline" status, the doctor has allowed
her to continue to breastfeed.  To increase other nutrients in her diet
outside of milk, the mother has been feeding solids (one jar of fruit or
vegetable, plus 3 TBSP of cereal twice a day).  This has brought her blood
galactose levels down below what you would expect to see in a severe
galactosemic on a no-milk diet.  However, the doctor appears to want her
blood galactose levels brought down to normal levels.  The baby is obviously
healthy - plump, alert, communicative with other people, creeps well and
grasps objects well.

There are several psychological and physiological issues here:

The mother feels that perhaps she is not trying hard enough to get this baby
to take abm (actually, yesterday the child drank a bottle of abm mixed half
and half with juice, so there may be relief in sight).  She feels that she
needs to somehow prove to the doctor (and herself) that she hasn't somehow
subverted the effort to feed the baby milk substitutes.  Based on her
description, I don't think she has--she tries to feed bottles or cups every
day, as does her husband, her in-laws and the teachers at the lab school
here.  No one has been able to get this child to take abm up to now.

She had fully intended to breastfeed this child for several years, and is
now grieving that this may not be possible and may actually harm the baby.
She needs to make a decision about whether it is appropriate for her to
continue to partially breastfeed (which would require repeated tests to
monitor her daughter's galactose levels) or whether she should wean the
baby.  She needs information about the possible outcomes of her decision.
She doesn't want to harm the baby by continuing to breastfeed, but
breastfeeding is very important to her (and to the baby).

The doctor (a specialist) feels that he already knows all the current
research on this condition as related to breastfeeding, and has chosen not
to contact the LLL Breastfeeding Info. Center.  By all accounts, he is BF
friendly, since he has sanctioned her continued breastfeeding (which
normally would not be allowed).

I understand that the health problems associated with this condition include
kidney damage, cataracts, and brain damage.  Are there any noticeable
symptoms that the mother can watch for that would signal an apparent
deterioration in her daughter's condition?

Are there other cases like this that you have encountered?  Would it be
possible for the mothers to communicate to offer each other support?

If you have access to any specialists on this condition who are also
breastfeeding advocates, knowledge of such a case, or more information that
would help this mother to make an informed decision, please let me know. I
will pass all information on to the LLL Leader.  I understand that they have
already contacted the Rare Disease Association (sorry, I don't know the
correct name of this group), which is sending an information packet.

Thanks for any help you can offer.

Margaret K.K. Radcliffe               [log in to unmask]
Dept. of Mining & Minerals Engr.
Virginia Tech, Blacksburg, VA