The first few months with my baby were incredibly challenging. I knew something was off, but every checkup brought more questions than answers. It started at birth, when we were told she had neutropenia – a condition where the body doesn’t have enough neutrophils, a type of white blood cell vital for fighting infections. That meant if she ever got a fever, we had to rush to the ER.
Two days after birth, we discovered she had tongue and lip ties, and a small mark at the base of her spine (sacral dimple). We were sent for further testing to rule out spina bifida. Thankfully, it turned out to be a common cosmetic variation – not dangerous. Her blood normalized eventually, and the ties were treated.
But now I know these early signs were part of a bigger picture. Looking back, this must be the first time I was exposed to the MTHFR mutation. This must have been a blessing in disguise.
As the weeks passed, I noticed more signs something wasn’t right. My baby seemed tense, always searching or chasing something, even during baby yoga when all the other babies were relaxed and smiling. Mine resisted. She didn’t cry much, but she rarely seemed satisfied or at ease.
At just under 3 months, she stood on her tiny legs while holding my hands — and cried when I laid her back down. At four and a half months old, she was crawling — more like swimming across the floor — but very eager to get somewhere.
She was surprisingly strong, but her feedings were short and she wasn’t gaining enough weight. It was stressful and confusing.
By five months, things escalated. She began arching her back and rejecting the breast. Despite seeing two lactation consultants and two doctors, no one could explain why she wasn’t gaining weight. She wasn’t crying much or vomiting, but something was clearly wrong. I was waking her every three hours to feed, weighing her often, trying everything to keep breastfeeding. Nothing worked. She was suddenly reluctant to eat.
Then, I broke and tried formula. That’s when she finally started puking violently, projectile-style. We tried different formulas. We had six types in our kitchen at one point. Nothing worked. And yet, the doctor told us to just “keep trying for a few more days.” That was it. We’d had enough.
That night the research started. This was the first time we got to play medical investigators online. I had already gone down many rabbit holes and researched different topics before; but this mystery diagnosis game was new to me, and it was pretty overwhelming.
I give all the credit to my husband. He stayed all night reading everything he could find, related to those symptoms. At some point he came across a blog post from a mom who was describing exactly the same symptoms our baby had, and it being silent reflux. In the morning he told me to read the blog. I was relieved.
The next morning we went to a new doctor we decided to test. We just started listing the symptoms. She stopped us mid-sentence and asked, “Does she have reflux?” I nearly cried. My husband nodded “That’s what we suspect.” She said it sounded like we were reading from the textbook.
She checked her throat and confirmed it. Prescribed medication and a new formula. The change was instant. Within five days, our baby was transformed — relaxed, happy, laughing. Her muscles softened. She was finally comfortable. I can’t describe the relief.
Although we don’t give medication automatically, this felt like an emergency. My baby was suffering and we had to live with the idea that it took so long to be able to help. It was an instant relief for everyone.
So why is this story relevant to my journey? It’s relevant in many ways. First, because this was yet another time where we were disappointed by the professionals, those who are supposed to know which questions to ask. Even when surrounded by them, sometimes you have to become your own medical detective.
Secondly, it’s important because it’s another proof that gut health matters. It affects personality, emotion and development — and yet, it’s still underappreciated in conventional medicine.
Third, maybe one of my readers can get enlightened if they find themselves or know someone in a situation like this. Although, now I think there’s more awareness on tongue tied and silent reflux.
And the last reason why this may be relevant is that I wasn’t aware I carry a genetic mutation. If I’d known earlier, I may have understood more about her challenges, and prevented some of my own struggles later on. This mutation is called MTHFR, and I will definitely write more about it in the future.
What is the MTHFR mutation?
The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase, which is crucial for processing folate (vitamin B9). Mutations in this gene can reduce the body’s ability to methylate properly — a key process in detoxification, DNA repair, and neurotransmitter production. It’s linked to fertility issues, miscarriage, anxiety, and other conditions.
Risk factors and outcomes that might be associated with suboptimal maternal methylation during pregnancy.
These are often related to folate metabolism and potential downstream effects.
- Increased Risk of Pregnancy Complications like preeclampsia (high blood pressure and protein in the urine), Recurrent Pregnancy Loss (blood clotting factors), impaired placental development and function.
- Increased Risk of Neural Tube Defects (NTDs) like Spina Bifida (a condition where the spinal cord doesn't close completely) or anencephaly (a severe condition where parts of the brain and skull don't develop).
- Some studies suggest a possible association between disrupted methylation and other congenital anomalies, such as cleft lip and palate or congenital heart defects, but this is less well-established than the link with NTDs.
Signs of methylation issues in infants may include
Neurological/Developmental:
- Developmental Delays: Difficulty reaching developmental milestones such as rolling over, sitting, crawling, or walking at the expected times.
- Speech and Language Delays: Late talking or difficulty with language development.
- Hypotonia (Low Muscle Tone): "Floppy" appearance, difficulty with head control, and delayed motor skills.
- Coordination Difficulties: Trouble with balance and movement.
- Learning Difficulties: Later in childhood, these may become more apparent as challenges with attention, memory, and academic performance.
- Neurological Conditions: Some studies suggest a possible increased risk or association with conditions like ADHD or autism spectrum disorders.
- Irritability and Difficulty Self-Soothing: Excessive crying, fussiness, and trouble calming down.
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Sleep Disturbances: Difficulty falling asleep or staying asleep.
Physical:
- Feeding Difficulties: Poor latching during breastfeeding, difficulty sucking or swallowing, and poor weight gain.
- Gastrointestinal Issues: Frequent reflux, vomiting, constipation, or diarrhea.
- Allergies and Sensitivities: Increased susceptibility to food or environmental allergies.
- Skin Issues: Rashes, eczema, or unusual skin sensitivities.
- Fatigue: Appearing tired or low energy.
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Physical Anomalies: In rare cases, potential birth defects or physical challenges. Some practitioners note trends with tongue-tie and lip-tie, although research is limited.
Behavioral/Emotional:
- Anxiety: Excessive worry or fear.
- Attention Deficits: Difficulty focusing on tasks.
- Mood Disorders: Increased risk of mood-related issues may become apparent later in childhood.
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Overreactions to Stress: Appearing to have a heightened stress response.
Other Potential Indicators:
- Adverse Reactions to Vaccines or Medications: Some studies suggest a potential for adverse reactions in children with methylation issues.
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Family History: A family history of methylation issues, MTHFR gene mutations, autoimmune disorders, neurological conditions, or a history of neural tube defects may raise suspicion.
Important Considerations:
- These signs are not exclusive to methylation issues. Many other conditions can present with similar symptoms.
- The severity and combination of symptoms can vary greatly among infants with methylation issues.
- Genetic testing (like MTHFR gene testing) can identify certain genetic variations related to methylation, but it doesn't always correlate directly with the presence or severity of symptoms.
- Biochemical testing such as homocysteine, folate, and B12 levels, methylation test, or organic acids test, can provide further information.
This isn’t meant to scare you—quite the opposite. Knowledge is power. If you carry an MTHFR mutation or have impaired methylation, it doesn't automatically mean your children will face health issues. What it does mean is that they could inherit these genetic tendencies, and under certain conditions, it may increase their risk.
In today’s world—where we're constantly exposed to toxins and so many people are living with nutrient-depleted diets, chronic stress, and less-than-ideal lifestyles—the impact of these genetic factors can be amplified. That’s why awareness matters so much. I see some of these patterns playing out in my own children, and I know they need support. It’s also what drives me to share what I’ve learned.