Written By Ansley T.

When my baby was 5 days old, I got a call from the pediatrician we chose before birth. As soon as I answered, she started speaking very fast and explained that Northside Hospital had notified her that one of our son’s Newborn Screening Test results had come back with an abnormal reading;  he needed to be evaluated by a doctor urgently, but in the meantime, I needed to be sure to feed him every two hours. I couldn’t even compute all she said, but I explained that we were already in the NICU at Children’s Hospital because of his low body temperature on the first night home from the hospital.  We found out that day our son has medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

WHAT IS MEDIUM-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCADD)?

Medium-Chain Acyl-CoA Dehydrogenase Deficiency, or MCADD, is a rare genetic metabolic condition in which a person has difficulty breaking down fats to use as an energy source while fasting. It is estimated to affect one (1) in every seventeen thousand (17,000) people in the United States. All babies have a newborn screening (NBS) blood test to check for various genetic and metabolic disorders such as MCADD, but it can take five or more days until the results are reported.

I am now a new member of the Newborn Screening Advisory Committee for the GA Department of Public Health and will continue to advocate for the Newborn Screening process. This test saves lives, but unfortunately, the turnaround time for results is too long to prevent every crisis for babies born with fatty acid oxidation disorders (FODs). While everyone is working toward a faster turnaround time, the best practice to protect the lives and health of newborns is to decrease the stigma around formula supplementation during those fragile first few days while mothers’ milk supply is being established.

Supplementation without hesitation will save lives—for all babies, but especially those born with FODs. 

What are the common breastfeeding myths taught to parents?

• Colostrum is enough
• Your body will make all the milk your baby needs
• Cluster feeding is normal before breastmilk comes in
• Babies only need drops of colostrum
• A baby’s stomach can only hold 5 ml or 1 teaspoon of colostrum
• Supplementing is dangerous
• Exclusive breastfeeding is best for all babies

As a member of a global support group for Fatty Oxidation Disorders (FODS) which includes MCADD, I learn about the stories of other families whose babies also developed metabolic crises within the first few days of life. Unfortunately, many times these stories are gut-wrenching and have tragic outcomes. In the last year alone, four newborns have passed away from metabolic crises before their newborn screening results were back. In all four cases, the grieving mother or parents have shared their agony over the fact that one or two bottles of formula could have spared them the unfathomable pain of losing their child. Exclusive breastfeeding is the number one risk factor for a metabolic crisis for a baby with MCADD, particularly while the mother’s supply is still being established. These mothers were doing exactly what they were told is “best,” just like I was. My heart aches for them in a way I can’t describe, and their stories haunt me on sleepless nights. 

Our geneticist recently connected me with a mom in north Georgia whose baby was born in May and has a story extremely similar to ours, thankfully also with a positive outcome. Her baby was 2 days old and had just had his first well-check at the pediatrician that morning when she found him ashy grey and lethargic/ difficult to rouse in his crib after a nap. She called 911, and the paramedics worked on him in the ambulance for several minutes before she heard them say “we found a heartbeat.” Can you imagine hearing those words about your 2-day old, particularly when you had just been to the pediatrician that morning and there were no apparent concerns? Her baby was life-flighted to a hospital in Atlanta where he got excellent, life-saving care. After a week-long hospital stay and tons of education on MCADD, they got to take their precious, healthy baby home. He’s doing great and thriving today.

This study explains why exclusively breastfed neonates with MCADD are at increased risk for morbidity and mortality in the neonatal period as compared with infants not exclusively breastfed.  As exclusive breastfeeding rates increase, careful observation of breastfed neonates and universal education on the signs of poor feeding and hypoglycemia are essential to protect neonates before their newborn screening results are available.

This is our entire story

After a fairly uneventful pregnancy, my son was born late on a Friday night in August 2018. The delivery was difficult though, and I experienced postpartum hemorrhage—which I later learned often correlates to a delay in milk fully coming in. We worked hard at breastfeeding, although we didn’t get a visit from Lactation until just before discharge, so the first 36+ hours were just me as a first-time mom trying my best while getting some counsel and reassurance from the nurses. My baby wasn’t latching well, so they encouraged me to hand-express colostrum and spoon feed it to him. I took them at their word about that being sufficient for him, how tiny newborns’ stomachs are, and that colostrum is “liquid gold.” In retrospect, knowing what all I know now, I shudder when I think about the fact that my son received just a few drops of colostrum those first few days of his life.

On Sunday evening after a brief consultation with a lactation consultant, who gave me a nipple shield to help with my son’s latch, we were discharged from the hospital. The nurses had mentioned that he would probably start acting hungrier and wanting to “cluster-feed,” and they were right—that first night home, he was much fussier. I was trying to nurse him constantly but he never seemed satisfied. My milk still wasn’t coming in whatsoever. 

Around 4:30 a.m. that first night home, after what I thought was a semi-successful nursing session, I noticed that my baby’s body felt cold.  We took his temperature (rectally), and I’ll never forget the horror of trying to comprehend the number I saw on the thermometer. It read 92.9 F. I took it again with two other thermometers, both brand new, and the highest reading we got was 93.1 F. I immediately called 911 and somehow conveyed the details of our situation and address. The paramedics arrived soon after, and after wrapping him in a foil blanket, they still couldn’t get his temperature to budge. We insisted that we wanted to go to the hospital, so they loaded him into the ambulance and took him to Scottish Rite Children’s Hospital. 

When my son arrived in the ER at around 5:30 a.m., his blood sugar was 32 mg/dl and his body temperature was 94.6 F. The head doctor in the ER that morning was working on Grant, and once they got an IV going and got his body temperature and blood sugar up, he came out to talk with us. He asked how feeding had been going, and I described that we’d been nursing round the clock with the help of a nipple shield and that there had been no signs of anything amiss when we were discharged from his birth hospital the evening before. The doctor said he was especially concerned by the low blood sugar number, but they were running all sorts of tests and that in the meantime, my baby was stable. 

While in the NICU,  they strongly encouraged me to nurse and/or pump rather than supplement with any formula. At that point, I was incredibly emotional and vulnerable, bordering on hysterics from fear and confusion, not to mention total sleep deprivation.  The cacophony of voices telling me that my breastmilk was the best thing for my son was starting to ring false and feel suffocating. But I pressed on, pumping with the hospital-grade pump and still getting next to nothing out. Even seeing how little milk I was producing, the NICU doctor was (somewhat callously, we felt) attributing my son’s low body temperature and blood sugar to him being a “lazy feeder” and that they “see it all the time with full-term, Caucasian male babies.” They really didn’t have any answers for us beyond that, and we felt so lost and confused by it all. How can they see this all of the time and not be alarmed? 

When my baby was 5 days old, I got a call from the pediatrician we chose before birth. As soon as I answered, she started speaking very fast and explaining that Northside Hospital had notified her that one of our son’s test results had come back with an abnormal reading and that he needed to be evaluated by a doctor urgently, but in the meantime that I needed to be sure to feed him every two hours. I couldn’t even compute all she said, but I explained that we were in the NICU at Children’s Hospital because of his low body temperature the first night home from the hospital.  

We found out that day that my baby has medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a fairly rare genetic condition that means he can’t metabolize certain fats and use them for energy. He needed to eat frequently, no less than every 2 to 3 hours, and we needed to be sure he was getting adequate calories for his body weight. We met with a genetic counselor whose compassion and kindness was a literal balm for our traumatized spirits, and later that day, our incredible geneticist Dr. Hong Li came from Emory University to meet with us in person in the NICU. She assessed our son and began the process of educating us on MCADD and how to manage it. But she was very sober as she told us how incredibly lucky we were that he survived the metabolic crisis he had just endured. She did not hold back in conveying both the severity of what had almost happened or the hope and confidence we should have that he was ok and would be able to lead a healthy, normal life.

Once we learned about MCADD and what it meant for his feeding schedule as a newborn and throughout his first year of life, the decision to stop trying to breastfeed and switch to exclusively formula feeding was abundantly clear. It felt to both me and my husband like such a weight lifted that we could stop feeling pressured by all the “breast is best” promoters and walk forward in confidence with formula, especially since we now needed to track his exact intake at every feeding. We fed him every three hours around the clock, as directed by our geneticist, until he was 4 months old and she gave the thumbs up to start adding an hour between overnight feedings each month. Four hours at four months, five hours at five months, and so on until he could go 12 hours at 12 months old. We set alarms and back-up alarms and got in the groove. Knowing how crucial those calories and the timing between feedings were for my son, it wasn’t even difficult to face the months ahead of interrupted sleep – we just felt so grateful that he was here for us to wake up to feed. 

Now, my son is almost two years old and thriving in every sense of the word. He is a little wild man, running around as fast as he can, playing outside and learning new words every day. Not a day goes by that we don’t thank God for the gift we have in Grant, for the joy we feel at his laughter and the privilege of wiping his tears and nurturing his body and soul. 

 

---

 

The Loss Of Our Son Has Devastated Our Family – This Time I Will Be Supplementing With Formula After Every Nursing session

If I Had Given Him Just One Bottle, He Would Still Be Alive.

Baby-Friendly USA Acknowledges Their Mistakes; Are They Going To Make Real Changes In The New Year Or Are They Providing Lip Service To Mothers?

NICU Nurse Discloses Newborn Admission Rates From Breastfeeding Complications in BFHI Unit

Neonatal Nurse Practitioner Speaks Out About The Dangerous Practices Of The BFHI

http://fedisbest.org/2019/10/faqs-does-the-fed-is-best-foundation-believe-all-exclusively-breastfed-babies-need-supplementation/

FAQs Part 1: The Most Common Questions Answered At The Fed Is Best Foundation

http://fedisbest.org/2019/10/do-you-believe-exclusive-breastfeeding-is-a-good-goal-to-promote-faqs-part-3/

 

Click here to join  Health Care Professionals Advocacy Group

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

The Loss Of Our Son Has Devastated Our Family – This Time I Will Be Supplementing With Formula After Every Nursing session