Aug 19, 2014
*This blog post is one mom's story. The information presented here is not intended to diagnose health problems or to take the place of professional medical care. The information contained herein is neither intended to dictate what constitutes reasonable, appropriate or best care for any given health issue, nor it is intended to be used as a substitute for the independent judgement of a physician for any given health issue.
Today we bring you a guest post from, Amy, one of our mom's. Amy is a Stay-at-Home Mom of two beautiful little girls; 3 year old Lucy and 9 month old Vivienne (Vivi for short). Amy is also a La Leche League Leader, grade school Hebrew Teacher at her Temple, Cloth Diaper Delivery Woman, and a community volunteer, among other things. She keeps busy & is a great person. We love Amy and her story is truly touching. We hope you enjoy her story & remember to trust your mom instincts too.

When our pediatrician’s office called to let me know that they needed us to have our youngest daughter’s newborn screening redone, I didn’t even bat an eye. After all, the pediatrician acted like it wasn’t a big deal; the galactosemia aspect of Vivi’s screening had come back abnormal, so it just needed to be redone on the very likely possibility that it was due to human error.  I knew that that had to be the case because galactosemia was a very serious, rare genetic metabolic disorder in which, if left untreated, 75% of all babies die within the first week of life.  Galactosemia can cause serious complications such as brain damage, ovarian failure, cataracts, and an enlarged liver, all because of the toxicity of the accumulation of galactose.  Galactose builds up because these babies lack the GALT enzyme needed to convert galactose into glucose.  Normally, when a person eats a product containing lactose (i.e. milk, cheese), their body breaks the lactose down into galactose and glucose (the sugar used by the body for energy), and the galactose is then further broken down into more glucose by the GALT enzyme.  The treatment for this condition is a restricted diet for life -- no products containing lactose-- so babies are put on soy formula..  But I had been exclusively breastfeeding Vivi since her birth, four weeks earlier, and not only was nursing going fabulously, but she was thriving. In addition to not showing any of the symptoms associated with galactosemia (lethargy, failure to thrive, vomiting, jaundice), she was perfect- rarely fussing or crying, and gaining weight like a champ.  

So imagine my surprise when on Good Friday, I received a second call.  The girls and I were still sleeping when my cell phone rang that morning.  It wasn’t even 9am yet so when I didn’t recognize the number, I let it go to voicemail.  But just minutes later, the pediatrician called and almost immediately, my husband was beeping in.  According to the pediatrician, the newborn screening had once again come back abnormal so I should expect a call from a genetics counselor.  Incidentally, that genetics counselor was the one who had tried to call me and when they couldn’t reach me, called my husband.  Thank goodness, I called them back and spoke to someone else who was much calmer than the melodramatic woman on the phone with my husband, Matt. Matt was told that we had to stop nursing Vivi immediately because there was a chance she had a mild condition of galactosemia and we needed to get more bloodwork done that day.  Neither one of us understood what was happening.  I didn’t even know who exactly was calling us (turned out it was the Weisskopf Child Evaluation Center), let alone why they thought our daughter was sick when she looked and acted perfectly healthy.  They wanted us to go to Kosair’s Children’s Hospital that day, have bloodwork done on Vivi, and stop nursing and switch to soy formula while we wait for the test results.  The genetics counselor told me that because she wasn’t visibly ill, Vivi didn’t have classical galactosemia but could either be a carrier or have duarte galactosemia (known as dG), a variant of classic galactosemia.  People with the milder form of the condition have the GALT enzyme but it isn’t fully functioning.  Rather than functioning at 100%, it functions somewhere between a 5 and 25% level, so although they can metabolize the galactose, it’s at a slower pace which leads to accumulation.  

The next week, I received a call as I was driving home from a trip to the Cincinnati Zoo, confirming that Vivi did have dG, that her enzyme level was at 25%, and her GALT-1-P level (which is a measure of how much galactose is built up in her body) was at 5.5.  The normal range for GALT-1-P is between 0 to 1 mg/dL.  I felt my heart drop to my stomach.  They told me that I needed to continue giving the soy formula (which I hadn’t started) and come in to meet with their team (a genetics counselor, a dietician, and a metabolic physician) later the next week.  Because I was still had so many questions, they told me that I could alternate the formula and breastmilk.  I couldn’t stop thinking that they just gave me this bad news and yet I had to wait a week to have my daughter seen.  How serious could this be?

When we arrived home, I got online and did as much research as I could.  Unfortunately, there is very little information about dG and because there is so little, there are conflicting views on treatment plans.  Although it is widely accepted that dG has less severe implications, it appeared that many medical centers took a cautious approach and treated dG as they would classical galactosemia.  After much internet surfing, I turned up a memo from the University of Florida Genetics Department that read that moms who exclusively breastfeed can continue to nurse babies with dG as long as the levels of galactose are not elevated.  (But how elevated is too much, I wondered?  Were Vivi’s levels moderately elevated?  What are the highest levels usually seen?)  I also found numerous forums with anecdotes from moms, many of whom had the same fears I had.  It seems that while there were some medical establishments that allowed moms of kids with dG to continue nursing, some, like the Weisskopf Center, ask moms to stop nursing altogether.  

I’m sure other moms wouldn’t think twice of doing what the doctor ordered but I just couldn’t.  At first, I didn’t because what if she didn’t have this condition and I quit nursing for no reason?  (And at the time, I really did not think there was any chance she could have it.)  I knew that while formula definitely has a time and a place, it is not ideal. I knew all the benefits of breastfeeding, how perfectly designed breastmilk is for a baby, and I just couldn’t risk introducing something unnatural into my baby’s digestive system without knowing for sure.  I didn’t want to compromise the immunities and nutrients I knew she was getting through my milk.  I especially didn’t like the idea of giving soy formula because of the research showing that it can have very serious adverse effects, enough that people in the field recommend it as a last resort formula. (To put it in perspective, a full day’s worth of soy formula is the same as giving a baby five birth control pills-- there is that much estrogen in the formula.)  But even after receiving the news that she did have it, I just didn’t feel comfortable giving formula when we had no idea if we really had anything to be concerned about, when apparently there were medical doctors in other areas that allowed moms to exclusively nurse.  Where were the studies showing the differences between cow’s milk formula and breastmilk in regards to how each impacted levels of galactose?  Couldn’t there be a chance that the benefits of breastmilk counterbalance any adverse reactions from the build up of galactose?

It wasn’t that I thought formula was evil.  I don’t; formula is a medical necessity in many cases.  It wasn’t the ‘necessary’ formula that I was dreading but the potential loss of our breastfeeding relationship that I was mourning.  I had nursed my oldest until she was two and a half, so I knew how great and beautiful the nursing relationship could be.  That is why my heart was breaking to think that I wouldn’t be able to experience that same joy with Vivi.  I remember looking into Vivi’s eyes as I nursed her, my heart aching, thinking that it just wouldn’t be the same.  I wouldn’t be able to nurse her without a care in the world.  I wouldn’t be able to nurse her through an ouch, through a meltdown, to ease her peacefully into sleep.  I wouldn’t be able to just hold this precious child to my chest and watch her look at me as she nursed, watch her move her tiny hand as it kneaded at me helping to bring the milk down, watch her drift off to sleep milk-drunk; I was going to miss what only another breastfeeding mama would understand. I remember staring at Vivi as I nursed her one time, thinking, “Am I hurting her right now? Is my milk causing irreversible damage that I can’t even see?”

Along with my online research, I started seeking help from the community of women I had surrounded myself with-- my close friend - a La Leche League leader and International Board Certified Lactation Counselor, my midwife, and another IBCLC friend.  My close friend was posting on professional boards asking for advice and information.  The research we were doing just raised more questions for me, and I looked forward to getting answers at our meeting with the Weisskopf Center.  Unfortunately, my meeting was less than satisfactory.  

The medical professionals I met with assured me that they valued the breastfeeding relationship but it became crystal clear to me after our first meeting that while they may truly think they’re valuing it, their actions do nothing of the sort.  Being a member of an attachment parenting yahoo group, I've heard moms talk about how their pediatricians treat them if they don't vaccinate their kids and how the whole tone of the visit changes-- I never really understood how they felt until my appointment.  You could just tell from the atmosphere in the room, something was amiss, as if they were already on the defensive because of the questions I had asked on the phone.  The young, fresh-out-of-college dietician was so sweet and nice but obviously couldn’t fathom why I wouldn’t blindly do what was asked of me. And then the genetics counselor and metabolic physician joined us and looked at me as if I had two heads when they saw I had a list of questions based on the research I had already done.  They expressed surprise that Vivi was only receiving one two-ounce bottle of formula in the evening (and we had only done that maybe two or three days).  They asked me how much breastmilk she was getting and seemed exasperated when I honestly could not say.  I nursed on demand the rest of the time and had no idea how much she transferred each time.  I explained that in order to protect our nursing relationship (and guard against nipple confusion), I didn’t want anything to do with the bottle, so I was letting my husband give the formula to her when he came home from work.  Plus, we practiced paced bottle feeding, starting out small so as not to stretch her stomach.  (I had to explain paced feeding to the dietician.)   

When the genetics counselor asked about our plans to introduce more formula, I had to explain that I don't give her the bottle, that Matt had had some trouble with getting her to take one, and that even if I *wanted* to give her the bottle, I doubt she'd take it since she can smell me and would reject the bottle in order to nurse instead.  (Got a weird look at that!)  Even though the Weisskopf Center claimed they had other breastfeeding moms who either breastfed 75% or 50% of the time with their dG babies, it finally dawned on me during our meeting that there was no way these moms nursed at the breast.  They had to exclusively pump and alternate between their expressed milk and formula if it was expected for them to know exactly how many ounces of breastmilk the baby was getting; we all know our breasts don’t have gauges. So when the metabolic physician came in and was told what we had gone over, the Dr. told me that I should *keep trying to give her a bottle*-- that “soon  she'll come to know that you can provide non-nutritive sucking and a bottle.”  I didn’t want to give Vivi a bottle because I wanted her to only associate me with nursing at the breast.  Depending on how much soy formula I ultimately would have to give her, my ultimate goal (other than keeping Vivi healthy of course) was to maintain our nursing relationship.   (If it came down to it, I figured I would feed her formula via a syringe or cup.)

Next, they talked about how, at 11 months, they do a food challenge to see if the dG patient can handle galactose now that their liver is older and more efficient.  They use cow's milk.  And I guess I must have looked confused because Kelly, the genetics counselor, said, "what? I can see something is wrong or you have some sort of question."  And I asked, why use cow's milk; if I'm feeding her some breastmilk, why not just cut out the soy altogether.  Kelly said something along the lines of, "oh but you're already giving her breastmilk."  Me: "Well, I nursed my daughter until she was almost 3 and it wasn't until recently that she's even had cow's milk."  Kelly: "well, what do you do if you don't do cow's milk?"  Me: "well, I nurse."  I think I threw them for a loop.....I just don't understand why I would give cow's milk at all if I'm still nursing.  My daughter would be getting the better-for-her, human milk!  But I asked so many questions, and I just don't think they even understood many of them.  For example, I asked about starting solids and whether they do a food challenge of sorts then, because wouldn't the 6-month-old liver be more mature than a newborn liver?  I mean, after all, babies' digestive system is obviously more advanced; otherwise, we wouldn't be able to feed them solids.  But they said no, so I asked about balancing solids with breastmilk and cutting down on the soy and I think that confused them more.  They honestly didn't understand that I was basically saying when Vivi is ready for solids, why can't I replace the formula with solids? Even for what I thought were very valid points or questions, they looked at me like I was crazy.  For example, Kelly said that only 3 of their dG patients have ever failed the food challenge, so I asked how many dG patients they have. Kelly gave me a bewildered look and said 'oh, dozens and dozens."  Obviously, there's a big difference between 3 out of 6 patients and 3 out of 100!  Was I the only parent to ever ask questions like these?

I left the meeting with the distinct impression that many of the other (breastfeeding) moms in their practice must switch automatically to soy formula and just pump and store until the food challenge.  But what new mom would be able to keep up with pumping exclusively just to store it on the off chance their baby could use it later?  And it would obviously be a challenge to try to get the baby back to the breast after that much time away. Obviously, the Weisskopf Center understands the value of breastmilk but not so much the relationship.  I left that meeting feeling dismissed as a parent.  Instead of being made to feel as if I was a crucial part in this process, I was made to feel that asking questions was annoying and unnecessary.

The week after my meeting, my midwife sent me a study that compared treated (meaning a diet of soy formula) and non-treated groups of dG patients, and found that those in the treated group had lower adaptive skills (meaning they may walk or talk at a later age) but there were no differences in IQ or language. That study and the ones I found later that day helped raise my confidence level-- confidence that yes, my breastmilk is not hurting Vivi and that the benefits of breastmilk *have* to outweigh the risks she could experience with dG.  Within a few days an IBCLC friend of mine e-mailed me a referral list of local physicians she had obtained from the Academy of Breastfeeding Medicine.  I immediately called the first name on the list-- a pediatrician named Dr. Liz (Dedman); it turned out to be her cell phone! She listened to the situation and then made me an appointment for Wed., the next day! When I met with her, she too had printed out numerous studies (some of the very same ones I had) and was very understanding. She reassured me, and told me that she'd be my partner in this whole situation...she planned to call the metabolic specialist to find out if there was something she knew that we didn't and see if we couldn't come to a game plan where I could nurse if not exclusively, as much as 90%. The next morning, she called to tell me that she had found another study that had fired her up -- it basically (AGAIN) stated that the medical recommendation for dG patients was to *not* restrict their diet because there were no known significant differences in outcomes between treated and non-treated dG patients. This prompted her to call the other regional hospitals-- Riley Children's Hospital in Indy (which treats dG patients the same as Weisskopf here in Louisville) and Cincinnati Children's Hospital (which, lo and behold, does not limit breastfeeding in any way), so she quickly set me up an appointment to meet with the genetics team there the next day. ( I've never in my life had a doctor work that quickly before-- meet with them on Wed., hear news on Thurs., and have another appt on Friday.)

So, Vivi and I made the trek to Cincinnati where Dr. Burrow in the Genetics Department explained dG to me and told me how crucial it is to have bloodwork done if my husband and I were to have to more children, because one of them could possibly have classical galactosemia.  (He even made the interesting point that even with a restricted diet, people with galactosemia *still* have serious complications.)  He talked about how there is some disagreement between centers about how to treat the condition and that he does not believe in restricting the diet whatsoever (putting babies on soy formula) because there is no difference in outcomes between those who have a restricted diet and those who don't.  Dr. Burrow (who became my favorite doctor at that point) said he considers himself a conservative doctor but he doesn't hesitate one bit on this because the research backs him up time and time again. 'Is there a chance dG patients could experience developmental delays? Sure, but that chance also lies in the general population as well.' He mentioned that he has seen (and not restricted the diets of) dG patients for years and none have had any problems; he also mentioned that many of his patients' parents have found out they are dG and didn't know it and they are completely healthy. The best part of that day was when he said, "The benefits of breastfeeding far outweigh the risk of damage that elevated levels of galactose could cause." I was so excited by the statement that I memorized it in seconds!

I asked about the bloodwork that the Weisskopf Center told me Vivi would have to have done every three months and he said, "oh no, I don't require any of that. What's it going to tell us? We know her levels are going to be elevated but we also know from the research that they will naturally decrease as she gets older and by the time, she's 1, they will be in the normal range." I asked about the food challenge (remembering how freaked out Kelly was that I don't give my babies cow's milk until they are weaned) and he said, "nope. It's a waste of your time. Again, we know, from the research that's out there, that their levels naturally decrease with age, and by the time they're 1, they have no problem." He even examined Vivi and said that she's perfect and he didn’t doubt for a second that she's going to grow up fine and dandy!

I can't even begin to describe how validating this was for me. Here, I had been reading so many things, so many studies that said these same things, and yet, I couldn't understand why it wasn't matching up with what the Weisskopf Center wanted me to do. Dr. Liz, when she called me, said, "it seems that Louisville and Indy are behind the times and still stuck in the old way of thinking." All I can picture is the look of disapproval the Weisskopf genetics counselor kept giving me, a look that pretty much told me that she thought I was a horrible breastfeeding-hippie mom who was endangering her child for selfish reasons. I'm so glad that I didn't listen to them-- although I did let the fear get to me because for about 4 days, I supplemented with formula :-/ I should have listened to my gut, but at least now, I can rest assured that I'm not crazy and that there's nothing inherently wrong with Vivi or what I'm feeding her.  

About a month after my wonderful meeting with Dr. Burrow in Cincinnati, I received a call from the dietician at the Weisskopf Center asking why I hadn’t taken Vivi for more bloodwork.  I explained that we had received a second opinion and had decided to exclusively breastfeed. I expressed my disappointment that they didn’t follow the most current research and in response, the dietician said, “But we do.  If there are no differences between those who are treated and those who aren’t, and we know it’s better for GALT-1-P levels to be as close to normal as possible, wouldn’t you want that?”  No, no I wouldn’t; if there are no differences between those who are treated and those who aren’t, wouldn’t I want to take a chance on the GALT-1-P levels in exchange for the numerous benefits that breastmilk provides.  Obviously, the two of us were coming at it from different perspectives.  I just kept thinking about the science I had been reading lately where breastmilk is being used in stem cell research and how a squirt of it in the eye can cure pink eye....what could it hurt?

Vivi will turn nine months on the 7th and I have no clue how her life will turn out.  But judging from the last seven months, she’ll be just fine.  She is talking to everyone in sight!  Okay, so she’s not talking, but I’m sure she thinks she is.  What she’s really doing is babbling, and moving and crawling.  This precious child, who I was told would be delayed developmentally, has been doing everything not only on time, but ahead of the ‘normal’ schedule.  At nine months old, Vivi sits up on her own, is a master crawler, and has been pulling herself up and cruising along the furniture. Thank goodness, I thought to question the doctors and seek out second opinions.  Imagine how many other breastfeeding moms end up quitting because they think they have to.  Unfortunately, the doctors at the Weisskopf Center were clueless about lactation, but I can't even blame them. Ignorance about all matters of breastfeeding is prevalent in the medical field, not just in the general society.  As mothers, we need to trust our instincts and educate ourselves, because we are the best advocate for our children.

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  • Posted On December 29, 2016 by Mike

    We have a three year old son with dg. Very similar situation to your daughter. Pediatrician referred us to Pittsburgh children’s hospital….same thing as with vivi we were told to take our son off of breastmilk. Additionally we were told he needed bloodwork immediately. I had done my research…I flatly refused all but the protein level and the jaundice..(we were in an ORANGE patient room…he was NOT jaundiced). I questioned all three….dietitian , nurse, and doctor about studies showing the benefit of being off breastmilk…they had none. Being the father I don’t believe after initially giving me the you have three heads look most mothers or fathers would just give in. It just resulted in more questions from me resulting in them telling me im the most informed father they ever met. After the meeting we went to do bloodwork…they called us in to a room the nurse came in and named another name…not our kid. After getting that straight…another four weeks of waiting….my wife breastfeeding our son the entire time. In that time…zero calls…my wife finally called THEM….the results? Well they aren’t sure..his enzyme level was a little low not quite normal but not galactosemia…HUH?your hospital put us into a panic for four weeks? For nothing?? We asked them to send the results to our pediatrician…they never sent them. I had called seven other states that do not restrict breastfeeding before going to Pittsburgh. Philadelphia children’s hospital has also produced research on not treating as well…unfortunately our uneducated pediatrician knew nothing about it and sent us to Pittsburgh instead. I am happy to report our now three year old son talks a mile a minute….remembers my clients names…and their kids names even if he just hears them once, and is 55 lbs and 40 inches tall. Breast milk definitely helped him thrive. Do not blindly trust medical personnel. Oh, by the way, my wife is a nurse! She doesn’t either!

  • Posted On April 08, 2015 by Kim

    Thank you Keena for your comment. Can you let us know the name and link to your support group so others may more easily find it?

  • Posted On April 03, 2015 by Keena Vuurmans

    Dear parents reading this Article , We have support group’s on Facebook , Please look us up, And please remember that every child has a different Geno type and enzyme levels so while one can have a normal diet another can not. Please feel free to email me with any questions. And be sure to look us up on Facebook to talk with other parents and adults with DG and CG.

  • Posted On January 20, 2015 by Rebecca Scott

    We are going through the same thing and I need help. All the doctors are insistent that we formula feed, and my pediatrician, via scare tactic, told me to stop breastfeeding. I have no resources in NJ and we have been formula feeding for almost a month.

  • Posted On December 21, 2014 by Jen

    I feel like we are going through the same thing right now. It is so frustrating! We have an appt on the 7th. Could you email me if possible? Thanks!

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