The Duarte mutation in GALT (galactose-1-phosphate uridyltransferase) 
has some activity, whereas the classic mutation has no activity at all. 
Since the previous child had Duarte, this means the family mutation (at 
least from one of the parents) is at least partially active. Since 
galactosemia is a recessive trait (you only need one working gene to be 
symptom free), the chance of this infant getting a mutated gene from 
each of two carrier parents and being affected is 25%. The family could 
breastfeed and monitor the infant carefully until the screening comes 
back. That would be my recommendation. Jaundice or excessive weight loss 
would be red flags, whereas an obviously thriving baby would be 
reassuring. Optimizing breastfeeding management would help reduce stress 
all around.

Good luck finding supportive, knowledgeable physicians to work with this 
family. It's wise of them to be getting their resources set up in advance.

Catherine Watson Genna BS, IBCLC  NYC  www.cwgenna.com

On 8/7/2014 6:49 PM, Lisa W wrote:
> If one had a mother who had a baby who previously showed a positive for the 'galctosemia' on the newborn screen but is now known to have the Duarte Variant, low levels inlabs for Gal-1-p, what would you do with the second baby? If this said 'first baby' had no s/s of reactions to berastmilk typical to galactosemia babies but said baby was discontinued from all breastmilk once newborn screen came back prior to family knowledge of the possibility that there are variations in galactosemia, levels for Gal-1-p, and they can get lab done that are now more sophisticated.
>
> For potential second baby would you have special labs ordered at birth and where would you get them from, names of labs also would be helpful. For second baby would you withhold breastfeeding knowing that first baby had low levels of Gal-1-p and was duarte variant and no reactions...or would you advise breastfeeding with close monitoring for the immediate negative reactions that 'true' galactosemia can create? (My thought is the risks of not breastfeeding outweight the risks of breastfeeding given the history and chances, but what do I know :) )
>
> Any advice on this would be helpful and guidance towards a geneticist in LA or San Diego would be great as well. I am interested to hear what the neonatologists have to say on this one as well (Dr. Nancy Wight?)
>
> I read the article in clinical lactation and enjoyed every word of it, but more 'physician' resources (in person or email or phone) would be greatly appreciated. http://www.clinicallactation.org/content/galactosemia-and-continuation-breastfeeding-variant-form
>
> Thank you again,
> Lisa Weinshenker, RN, IBCLC
> Las Vegas, NV
> ((Current in 1990 (see I advanced us by 5 years for the moment:) ) )
>
>               ***********************************************
>
> Archives: http://community.lsoft.com/archives/LACTNET.html
> To reach list owners: [log in to unmask]
> Mail all list management commands to: [log in to unmask]
> COMMANDS:
> 1. To temporarily stop your subscription write in the body of an email: set lactnet nomail
> 2. To start it again: set lactnet mail
> 3. To unsubscribe: unsubscribe lactnet
> 4. To get a comprehensive list of rules and directions: get lactnet welcome

             ***********************************************

Archives: http://community.lsoft.com/archives/LACTNET.html
To reach list owners: [log in to unmask]
Mail all list management commands to: [log in to unmask]
COMMANDS:
1. To temporarily stop your subscription write in the body of an email: set lactnet nomail
2. To start it again: set lactnet mail
3. To unsubscribe: unsubscribe lactnet
4. To get a comprehensive list of rules and directions: get lactnet welcome