Monday, July 21, 2014

Circumcision and MTHFR: When a little snip is a genetic nightmare

Everyone knows one of my favourite rabbit holes is the discussion of epigenetics, especially MTHFR. For those new to the topic, MTHFR is an abbreviation, not a cuss word, for a gene that handles an enzyme tasked with managing the methyl cycle in the body. The complexity of the body is such that a genetic mutation in this area will influence every part of the body, slowing down functions, impairing processes and encouraging deficiencies in vital areas.

A person with MTHFR has trouble converting, processing, and excreting various substances. They also might have altered immune responses, a tendency towards gut damage, and comorbid (co-existing) conditions such as blood clotting disorders. Their bodies react poorly to liver-burdening substances such as acetaminophen and they have difficulty with synthetic supplements.

With this in mind, drugs and medical treatments present an increased risk for someone with MTHFR. One area that needs discussion is routine infant circumcision and its role in triggering a cascade of interventions in the baby with MTHFR.

Routine infant circumcision as it is performed in the United States, consists of removing the prepuce organ from male infants, typically soon after birth, and typically without sedation or anesthesia, or only local and mild forms.

On its own, before considering genetic conditions and underlying defects, it presents all the basic risks of surgery, such as hemorrhage, heart attack, hypovolemic shock, increased cortisol levels, infection, scar inflammation, readhering skin, etc.

Within the discussion of MTHR, however, parents have specific connections to consider when trying to decide whether or not to perform this surgery on their children.

Cardiovascular events

Due to the epigenetic influence of MTHFR mutations on the mother and fetus, midline defects are a common byproduct during pregnancy. Congenital Heart Defects (CHD) are a common midline defect that can range from moderate to severe and usually require some kind of intervention. Often, CHDs are overlooked during pregnancy and only some hospitals are beginning to encourage routine screening for CHDs after birth.

As such, an infant born with an undiagnosed CHD who is subjected to circumcision has an increased risk of experiencing a cardiovascular complication such as a heart attack during the surgery. If the staff is unaware that the child has heart defects, they might be unprepared and ill-equipped to handle the specific needs of the baby, reducing response times to the complication or causing more damage.

Some babies are subjected to circumcision despite the parents and staff being aware of an existing CHD. This is how baby Joshua died. He had a severe heart defect, one that often requires three surgeries during infancy and even a full heart transplant later. The doctors encouraged the mom to consent to circumcision and the morning after his surgery, Joshua died. The cause of death listed was cardiac arrest, of course, not circumcision. And we have no idea of his MTHFR status and its potential connection to this tragedy.

If you suspect MTHFR mutations in your child, consider opting for heart screening during pregnancy and after birth. Or, if your child has been diagnosed with a CHD, consider additional testing to look for MTHFR mutations. Carefully research the risks of any surgery during the newborn period and how it might strain the cardiovascular system, especially if the doctors are not going to screen your child for pre-existing conditions.


A risk from any surgery is hemorrhage, of course. But, infant circumcision remains especially egregious in this area because newborns experience complications with the loss of an extremely small amount of blood and the blood loss occurs in an area that is covered up by a diaper.

In an average baby, losing just 2.3 ounces of blood is enough to cause hypovolemic shock and potentially death. That is about half of a small cup, an amount that might be missed in a diaper in the middle of the night, when the parents and baby are exhausted after a tiring birth and painful circumcision.

This is a basic econobum cover with a Flip insert holding 2.3 ounces of liquid.
It's a budget brand that many moms use. From this experiment, it is clear that
this insert could easily hold 4-5 times more than the critical amount of 2.3oz.
How many moms expect a cloth diaper to last at least 12 hours at night?
How much blood would a baby boy lose before anyone noticed?
How could a mom accurately decide on the amount soaked into the cloth?
Hemorrhage is another issue that matters more to those with MTHFR. For many people, MTHFR mutations are comorbid with clotting disorders. And these conditions could present either way, such as with too much or too little clotting, or other immune responses depending on the individual issue. Last year, Baby Brayden died after he experienced a clotting issue during his circumcision. He held on until his organs shut down. You can read his story here. He had an undiagnosed clotting disorder.

Before even thinking about the implications of the vitamin K shot and circumcision, start at birth. If the doctors prematurely clamped/cut the umbilical cord, this means your baby's blood supply has already been artificially reduced. Your baby might have already experienced hypoxia (deprivation of oxygen) while struggling to breathe after birth and having his blood supply compromised from the clamping.

So, think of the entire sequence of events here. A baby with MTHFR is born, doctors immediately clamp the cord, which reduces blood supply and deprives the baby of oxygen. Then the baby is given a shot of vitamin K, which interferes with an undiagnosed clotting condition. Then the baby is circumcised and begins to hemorrhage.

The issue of hemorrhage also returns us to the issue of cardiovascular events, as any blood loss will put a strain on the heart, potentially increasing the risk of abnormal heart rhythms, shock, or even cardiac arrest.

By the time doctors figure it all out after your baby begins to react, how much damage will have occurred?


For adults, when we choose surgery, we are able to choose from a variety of sedative methods, including full anesthesia. We also have a laundry list of pain medications to use for post-surgical pain management.

For babies, full sedation is almost always avoided as it is unsafe. Most circumcisions are performed without anesthetic. After the surgery, parents are told to use a common over the counter medication, Tylenol. 

This medication is hardly adequate for post-surgical pain relief (what was the last surgery you had as an adult where you only took small dosages of Tylenol?) More than that, however, acetaminophen is already connected to several concerning issues for those with MTHFR. Studies note that it is a big drain on the liver, even in normal dosages. It drains glutathione, a master antioxidant that your body creates by, you guessed it, the methyl cycle. A baby with MTHFR who has an impaired methyl cycle is already making less glutathione. To then undergo circumcision and be exposed to several days of Tylenol taxes his liver and immune system.

Acetaminophen is implicated in the development of mitochondrial disease, asthma, allergies, and even recently, scientists discovered this drug when given after vaccination impairs the vaccine effect in the body. (If you're curious about the tangent of acetaminophen, I have a blog post linked at the bottom for additional reading.)

Researchers are already beginning to see some patterns that cause them to question circumcision's role in damaging the brain, whether due to complications, underlying conditions, or incidental use of acetaminophen after surgery. When they looked at other countries with lower rates of circumcision, they found lower rates of autism and a different male to female ratio for autism diagnoses as an example.

In addition to the direct exposure to acetaminophen after circumcision surgery that might impair the brain and immune system of a baby with MTHFR, the baby might already be damaged from intrauterine exposure due to maternal intake of acetaminophen during pregnancy.

Pregnant women are generally discouraged from using other pain medications and are told that acetaminophen is the "safe" one for pregnancy. This is not really the case. In reality, acetaminophen remained a substance that had not been fully studied, and its consequences were not well known, so it looked better than the other options, which have studies showing harm.

Over time, this scientific ignorance has slowly changed and we now have growing evidence that acetaminophen exposure during pregnancy comes with risks. For those mothers who weren't warned in time, their babies with MTHFR might have additional underlying conditions or what you would call borderline situations due to prenatal exposure. Add newborn circumcision to the list and it could be enough to cause acute or permanent damage in the brain and liver.

Breastfeeding substitutes

For the baby with MTHFR, every introduction of artificial intervention is a potential risk more than to the average population. For example, people with MTHFR are unable to efficiently absorb and convert synthetic (lab created) vitamins. This is unfortunate, because our society uses synthetic vitamins in a variety of food groups such as all breads, store bought milks, orange juices....and baby formula.
The baby with MTHFR is also sensitive to gut injury, as it further impairs the ability to absorb nutrients, along with taxing the liver and glutathione production, inflaming the altered immune system. Formula, no matter how necessary and lifesaving, does come with the stark reality of changing the gut flora when introduced to babies.

How does this tie into circumcision? It is well known that circumcision surgery disrupts early breastfeeding attempts. Breastfeeding is a skill for the mother and baby, and takes time to establish for both people in the breastfeeding relationship. Circumcision surgery tends to occur soon after birth, when breastfeeding is in its early stage and vulnerable to interference.

Circumcision gives the baby a wound in an inconvenient area. It's already difficult for mothers to learn positioning techniques for their newborn. Attempting to also avoid bumping or jarring the painful genitals after surgery is harder. Inadequate pain relief from the tylenol along with side effects of of the drug and any other anesthetics/drugs used during the surgery might cause the infant to sleep too long between feedings, to cry inconsolably, and impair the ability to latch and suckle properly.

The infant might refuse to nurse and begin to lose weight. If blood loss occurred and a transfusion was required, the infant might experience high levels of jaundice. In cases of jaundice, the baby is often separated for long periods from the mother, again disrupting breastfeeding sessions. Often, the mother is encouraged to use formula for jaundice situations or she might begin to blame her supply and switch to formula instead.

All of this to say, a baby with MTHFR who is circumcised could then be at risk of losing his breast milk, which due to his genetic mutations, is a vital substance. Once he is switched to formula or formula supplementation, his gut flora will change within hours and his body will begin to experience issues with absorbing and using the synthetic vitamins in the formula. He might also have another common MTHFR issue: food intolerances/allergies, causing a reaction to the formula and more gut damage.

How many times can a parent roll the dice when it comes to mixing the complexity of a baby with MTHFR and environmental influences such as prenatal health with the direct reality of circumcision? If your baby has MTHFR or other polymorphisms, AVOID all medically unnecessary surgeries at all cost, which for baby boys means you must say NO to circumcision. If you are unsure if your baby has MTHFR, congenital heart defects, clotting disorders, gut damage, mito disorder, immune deficiencies or other conditions that are not routinely screened for after birth, say NO to circumcision and tell the doctors to screen your baby first!


Circumcision disrupts breastfeeding.

Does circumcision cause autism?

Newborns are stronger than adults.

Don't fear the fever, fear the fever reducer.

A big list of circumcision articles divided by subtopic

Modern Misfits

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