Re: Duarte Galactosemia

[Guest guest]

Dana Schmidt knows about this!! Dana? Beebe, M.Ed., RLC, IBCLC Lactation Consultant/Postpartum Doula www.second9months.comwww.facebook.com/thesecond9months--- Subject: Duarte GalactosemiaTo:

Date: Saturday, April 14, 2012, 12:43 PM

Posted w/ permission.

I am working with a client with a 5 1/2 week old baby girl, who

tested positive for Duarte Galactosemia (DG). This was confirmed with two newborn screenings, and one further lab work done that broke down enzyme and glactose levels. (Below is what the test results showed. ) So far, baby has been exclusively breastfeed, but the genetics counselor is telling her that every DG patient is automatically told to go on soy formula. She has not seen a metabolic physician yet, her appointment is Thursday, so we are trying to rather any and all information possible to see if she can continue breastfeeding at least partially. At this point, the baby is showing no classical symptoms of Glactosemia, the mom has noted, however that she feels the baby is sleepier than should be, although baby is gaining weight normally. She was 9-14 at birth and at last weight was 10-15 (at 5 weeks).

So, the main questions that I have is:

Does anyone know of any research that points to EBF, or at least partially while supplementing with soy or lactose-free formula.

If mom cuts out all dairy (including hidden) will this lower the glactose in her milk and make it easier for baby to process, and lower baby's Gal 1-P levels.

If all research points to mom having to use formula, is their one that is better than the other (in regards to soy or lactose-free)

Please post all info to entire group, as this is something that others may find beneficial.

Thank you so much for any information you can share.

M-T

IBCLC

[Guest guest]

I sent her the message as well, to make sure she sees it

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> Date: Saturday, April 14, 2012, 12:43 PM

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> Posted w/ permission.

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> I am working with a client with a 5 1/2 week old baby girl, who

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> tested positive for Duarte Galactosemia (DG). This was confirmed with two

newborn screenings, and one further lab work done that broke down enzyme and

glactose levels. (Below is what the test results showed. ) So far, baby has been

exclusively breastfeed, but the genetics counselor is telling her that every DG

patient is automatically told to go on soy formula. She has not seen a metabolic

physician yet, her appointment is Thursday, so we are trying to rather any and

all information possible to see if she can continue breastfeeding at least

partially. At this point, the baby is showing no classical symptoms of

Glactosemia, the mom has noted, however that she feels the baby is sleepier than

should be, although baby is gaining weight normally. She was 9-14 at birth and

at last weight was 10-15 (at 5 weeks).

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> So, the main questions that I have is:

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>

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> Does anyone know of any research that points to EBF, or at least partially

while supplementing with soy or lactose-free formula.

>

>

>

> If mom cuts out all dairy (including hidden) will this lower the glactose in

her milk and make it easier for baby to process, and lower baby's Gal 1-P

levels.

>

>

>

> If all research points to mom having to use formula, is their one that is

better than the other (in regards to soy or lactose-free)

>

>

>

> Please post all info to entire group, as this is something that others may

find beneficial.

>

>

>

> Thank you so much for any information you can share.

>

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> M-T

>

> IBCLC

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[Guest guest]

So first I have to tell you that I am not a genetics counselor. With that being

said, I can tell you this.

DG Galactosemia is NOT Classic Galactosemia. The DG stands for one copy of the

Duarte (milder Galactomemia) and one copy of the Classic Galactosemia gene.

What this means that is that the baby has at least 25% enzyme activity to break

down galactose/lactose found in breastmilk (in this case). Babies with Classic

Galactosemia have less than 5% activity and are quite ill within the first few

days of life from the build-up of toxins (jaundice not otherwise explained, e.

coli sepsis, etc). There are metabolic physicians who are comfortable with

allowing babies to remain on breastmilk with DG Galactosemia as long as they are

clinically well and do not have critically elevated Gal-1-P levels. There are

some that are not. In that case, it is recommended that the baby remain on soy

formula for the first four months of life. After that time, a breast milk

challenge is done to see if the baby's liver is mature enough to metabolize the

Gal-1-P. A breastfeeding mother is advise to pump and store until that.

Summer heat can affect newborn screening cards so you may get many false

positives during this time. Still it is very important to follow up with a

metabolic specialist before advising your client about the removal or

continuation of a breastmilk diet. Should your client receive news that their

baby had a positive Newborn Screen, remember that this must be CONFIRMED by

metabolic testing as the newborn screen is just that - a SCREEN.

To read more about Galactosemia:

Newborn Screening ACT Sheet

[Absent/Reduced Galactose-1-Phosphate Uridyltransferase

(GALT)]

Classical Galactosemia

and

Understanding Galactosemia

Mom reducing her intake of lactose will not benefit the baby. Remember, lactose

and galactose are in breast milk and cow's milk so soy formula is recommended

for a complete elimination in the diet.

[Guest guest]

Lactose is not the same as protein. Human milk is HIGH in lactose for a reason

-- human babies have bigger brains per body weight than any other mammal.

Brains need sugar. The type of sugar brains need is lactose. So, the content

of lactose in milk is constant no matter what the mother does to her diet.

Drinking another species milk has ZERO influence on lactose content. Cow's

don't drink milk and they make milk with sufficient lactose for their calves.

In fact, we are the only mammals who ROUTINELY drink the milk of another species

(there are some rare cases of orphaned animals suckling from other species).

The reason why cow's milk might need to be eliminated from a mother's diet is

WHEN the cow's milk PROTEINS pass through to the milk and the baby has a

reaction to the PROTEINS in the milk.

Sugars are broken down by an enzyme which all babies have unless they have rare

genetic Galactosemia disorders.

PROTEINS are not the same as SUGARS. The cartoon show Jimmy Neutron got this

wrong where Jimmy and his friends talk about the llamas being lactose intolerant

AND allergic to llama milk in the same sequence. Every time my poor son watched

that episode, he would tell me to not tell him again why that didn't make sense.

I know there is a lot of discussion about lactose intolerance in babies, but for

the most part, I don't believe that most of the research really supports that it

is widespread. I believe that most of what is characterized as lactose

intolerance in breastfed babies is overactive milk ejection reflex - which leads

to gulping down the food too fast -- which leads to indigestion. I believe that

some moms will go on crazy pumping schedules and can feed the freezer with

enough of the milk pumped after feedings to end up putting more of the fat into

the freezer and creating imbalances. I do NOT believe that moms can create

lactose intolerance by allowing their babies to switch to a new breast when the

baby is no longer swallowing on that breast.

As for formulas -- there are so many ingredients that cause indigestion that of

course they exploit this by creating more and more different types of formula so

parents end up spending money chasing down THE formula that will fix what could

have been fixed with human milk. I recently went on diapers.com to help a

mother who couldn't find a ready to feed liquid formula and it made me need to

go to TWO back to back Martial Arts classes to recuperate from the horrendously

deceptive advertising. (The second class was jiu jitsu which I am completely

inept at -- yet in what was my fourth class ever I must have put my frustrations

into it because I pinned a guy who weighed double what I do. I don't know who

was more surprised by it.)

This baby has an enzymatic disorder where the sugar is not broken down in the

gut. This is a TRUE case of lactose intolerance. Soooo, it would only make

sense to explore ways to provide this baby with milk where the lactose has been

broken down. It would not make sense to change the mother's diet. It seems to

me that if you can break down the lactose in cow's milk, you can do the same to

human milk. Nevertheless, I know nothing about how one could do this.

Best regards,

E. Burger, MHS, PhD, IBCLC

[Guest guest]

*Thanks* for this info, Dana - very interesting & useful!

Fay Bosman, IBCLC

www.nwmothernurture.com

[Guest guest]

There was a LLL Leaven (the Leader only publication) article last year or the

year before from a Leader who had a baby with Duarte Galactosemia. I remember

the Leader saying she was able to partially breastfeed and her doctor changed

the amount of breastmilk depending on what blood test levels were. She said the

hardest part was keeping up her supply during the times when her baby needed

more of the lactose-free formula and having enough breastmilk when her baby

needed less of the formula.

If you want me to find the article and email it to you just let me know. I'm

kind of curious to hear what will happen in this case. My thinking if baby isn't

showing any symptoms it would be okay to continue breastfeeding until the

condition is confirmed and the doctor comes up with an amount baby can handle.

But since I'm not a doctor and have never worked with this condition that may

not be the right way to go.

Heinz, BA IBCLC

Beach Babies Lactation Support, LLC

[Guest guest]

This is why some metabolic doctors do not feel comfortable allowing breastfeeding even with the milder duarte galactosemia. The reason why they challenge babies at 4, 6 or 12 months is that those the typical times when milk is not the primary source of nutrition, so less galactose in the diet.Mild galactosemia (also known as Duarte-variant)Children with mild galactosemia usually have symptoms that are less severe than seen in the classic form. Some have no symptoms at all and do not need treatment. Children with mild galactosemia that do need treatment but do not receive it may develop one or more of the following:Early cataractsMild mental retardation or learning delaysAtaxia (unsteady gait)Delays in growthSpeech problems and delaysSome girls with mild galactosemia will have delayed periods or do not get their periods at all. Some women with mild galactosemia start menopause

early or have ‘premature ovarian failure’ in which the ovaries stop releasing eggs earlier than normal menopause. Some, but not all, African Americans with galactosemia have an even milder variant form. These individuals usually do not have serious health effects from their mild galactosemia. I think this important for all of us to understand and to help parents who may need to pump for that amount of time. The metabolic specialists that I have worked with FULLY support breastfeeding but support avoidance of anything harmful to babies. When weighing out the risks and benefits, some will recommend

avoidance of all milk products including breastmilk for a certain amount of time with variants of galactosemia. Remember with Classic Galactosemia, they must stop breastfeeding or the baby will die, probably within the first week of life and it's a horrible horrible death. Avoiding milk (including breastmilk) will save these babies - that is why this disorder is on the Newborn Screening Test.The following are treatments often advised for children with classic galactosemia:1. Lactose and galactose-free diet: People with classic galactosemia are encouraged to follow a lactose and

galactose-free food plan throughout life. Lactose or galactose are found in the following foods, all of which must be avoided:Milk and all dairy productsProcessed and pre-packaged foods often contain lactoseTomato saucesSome candiesCertain medications – tablets, capsules, sweetened liquid drops that contain lactose as a fillerSome fruits and vegetables also contain galactoseAny foods or drugs which contain the ingredients lactulose, casein, caseinate, lactalbumin, curds, whey, or whey solids.Your dietitian will help you develop a food plan that

allows your child to avoid lactose and galactose while still eating the right amount of protein, nutrients and energy to keep him or her healthy. Your child’s food plan will depend on many things such as his or her age, weight, general health, and blood test results. Your dietician will fine-tune your child’s diet over time. The special food plan should be continued throughout life. 2. Special lactose-free formulaNewborns with galactosemia are given a special formula free of lactose. The most common formulas used for babies with galactosemia are those made with soy protein isolate.Isomil® and

Prosobee® are two formulas that are made with soy protein isolate. Soy milk itself contains galactose and should not be used.http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html#4 A lactose free formula is NOT indicated for a baby with Classic Galactosemia as those formulas may still have trace amounts of lactose. In a Duarte, depending on the level of GAl-1-P

and if the baby cannot tolerate soy, a lactose free formula may be considered. As far as I know, there is no way to completely remove lactose/galactose from breastmik. Does anyone else know? When I worked at Yale University, I was the Newborn Screening Nurse. Believe me, I had my fair share of crying mothers who had just established breastfeeding when I had to tell them to stop and pump. This happened most often in summer when the filter cards were affected by sitting in hot mailboxes or UPS trucks. If your "mothers" are told their baby has Galactosemia, ask them if it was confirmed by a metabolic center (like

Yale University) or was that result of the newborn screening. Newborn Screening is not diagnostic but can give a hint about whether or not a baby needs more testing. Unless the metabolic centers recommends, it is best to test the baby while she is still on milk products so to understand whether or not her body can metabolize it. During my time at Yale, we identified many variants but not one Classic Galactosemic through Newborn Screening. However, there was a child who was critically ill with liver failure there in the hospital affiliated with us. He was from a South American country that does not do Newborn Screening. He was exclusively breastfeed and became very ill and was flown to Yale for a liver transplant. It was determined at that time that he was affected by Classic Galactosemia. Dana Schmidt, BS, RN, IBCLCCradlehold, DirectorBreastfeeding Education & Supportwww.cradlehold.netProviding the minimum amount of intervention for the minimum amount of

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Services: To: Sent: Sunday, April 15, 2012 11:09 AM Subject: Re: Duarte Galactosemia

*Thanks* for this info, Dana - very interesting & useful!

Fay Bosman, IBCLC

www.nwmothernurture.com