In my epidemiology class, we did a unit on genetic disorders and disease screening. Genetic disorders are “rare”– at least until they happen to you.
Many of us are carrying a gene right now for some type of genetic disorder. But it’s only if the conditions are just right that a baby has a disorder or becomes a carrier.
Sometimes it has do with culture and geography. Communities that have been isolated either by culture or geography tend to have a smaller “pool” of marriage partners. So if one or two families in a small community are carriers, the gene can spread through the community over the years. In some communities where marriage between cousins was more common, genes for disorders became much more prevalent. Even things like conflict and war can contribute to genetic disorders. For example, some geneticists have suggested that the pogroms in Eastern Europe decreased the number of potential marriage partners within the Ashkenazi Jewish community, causing a further proliferation of certain genes.
Sometimes a particular gene actually gives carriers a survival benefit, like the way sickle cell trait protects against certain types of malaria.
And others, we just don’t know. Some disorders are uniformly distributed across racial and ethnic groups. They don’t seem to have any biological reason for being. They just are. And we are left to speculate on the existentialist reasons.
How rare is “rare”?
Well, it all depends on your genetics.
Thalassaemia and Sickle cell disease
Both thalassaemia and sickle cell disease are hemoglobin disorders. Thalassemia causes blood cells to develop abnormally and affects people differently depending on how many mutated genes they have inherited and whether it’s alpha or beta thalassemia. Sickle cell disease causes the normally round red blood cells to be sickle shaped. This means the blood cells don’t fit through blood vessels properly and can cause periods of extreme pain and illness. Carriers can also have some health problems, which could account for the high rates of maternal and infant mortality and morbidity among African American women and infants. Thalassemia and sickle cell disease affect populations parts of the world where malaria is endemic (Sub-Saharan Africa, South America, Cuba, Central America, Saudi Arabia, India, and Mediterranean countries such as Turkey, Greece, and Italy). If your ancestors came from these parts of the world, you could be a carrier for one of these diseases. About 1 in every 500 African-American births and 1 in every 1000 to 1400 Hispanic-American births are affected with sickle cell disease. 1 in 12 African Americans are sickle cell trait carriers.
Hemophilia is a bleeding disorder where the body lacks most or all clotting factor. Occurs evenly across different racial and ethnic groups. There are different types of hemophilia, all with varying levels of rarity. Hemophilia A occurs in about one in every 4,000 to 5,000 males worldwide, hemophilia B is estimated to be in 1 in every 20,000 men and hemophilia C is estimated to occur in about one case per 100,000 people in the U.S. This disease is famous for contributing to the end of the Russian Romanov dynasty.
Cystic fibrosis causes the lungs to produce too much mucus. It affects most racial and ethnic groups, but Caucasians have the highest risk. The overall risk in White newborns in 1 in 2,500 to 1 in 3,500. The risk is much lower in other ethnic groups. In the United States, the risk for African American babies is about 1 in 17,000 babies. For Asian American babies the risk is about 1 in 31,000. This disorder is going to hit the mainstream with the new movie Five Feet Apart.
Tay Sachs disease
Tay Sachs disease is a fatal genetic disease in which harmful quantities of a fatty substance called Ganglioside GM2 accumulate in the nerve cells in the brain. This causes nervous system degradation and eventually death. Tay Sachs disease affects Ashkenazi (Eastern European descent) Jews at a very high rate. In the United States, 1 in 27 Jews is a carrier for Tay Sachs. Other ethnic groups have a high risk as well. French Canadians from the St. Lawrence River area and Cajuns from Louisiana also have a 1 in 27 prevalence of Tay Sachs carriers. Irish Americans have a higher than average risk at 1 in 50 individuals being carriers. The risk for non-Jews and for Sephardic (Middle Eastern) Jews is 1 in 250.
Fragile X syndrome
Fragile X syndrome is caused by a “fragile” site at the end of the long arm of the X-chromosome. This fragile site is the result of a premutation which can be passed as a premutation or a full mutation to a child. Fragile X is an X-linked disorder, which means that it is only inherited on an X chromosome, so a father can pass the premutation to his daughters but not a son and mother can pass the premutation and mutation to both sons and daughters. This makes the inheritance a little more complicated than a simple “two recessive genes”. Fragile X causes varying levels of developmental delays and it tends to affect boys more strongly than girls.
Fragile X Syndrome is distributed pretty evenly across all ethnic groups with an average of 1 in every 2000 males and 1 in every 4000 females of all races and ethnic groups. Worldwide, 1 in 3600 males and 1 in 4000 to 6000 females have some form of Fragile X syndrome. 1 in 259 women of all races carry the Fragile X premutation. The number of men who are carriers is thought to be 1 in 800 of all races and ethnicity. Carrier females have a 30% to 40% chance of giving birth to an affected male child and a 15 to 20% chance of having an affected female child.
Huntington’s disease is a degenerative brain disorder, in which affected individuals lose their ability to walk, talk, and reason. This disease begins between ages 30-45, and every individual with the gene for the disease will eventually develop it. Huntington’s is an autosomal dominant genetic disorder which means that if one parent carriers the defective Huntington’s gene, his/her offspring have a 50/50 chance of inheriting the disease. Huntington’s disease occurs pretty regularly across all ethnic and racial groups.In Western countries, it’s estimated that about five to seven people per 100,000 are affected by HD. Woody Guthrie, the songwriter who wrote “This Land Is Your Land” had Huntington Disease.
Muscular dystrophy is a group of genetic diseases that cause progressive muscle weakness and wasting. Duchenne and Becker muscular dystrophy are among the most common with Duchenne being the most common. Duchenne affects all races, but there is a much higher rate among among Hispanics and Whites. The estimated incidence of Duchenne and Becker muscular dystrophy is 1 in every 7,250 males aged 5 – 24 years.
And then there are some rare genetic diseases…
CAH is a disorder of the adrenal and sex hormones. Some types are fatal and others are not. CAH has a worldwide incidence of 1 in 13,000 to 1 in 15,000. In the United States CAH incidence is 1 in 10,000 to 1 in 23,000 depending on the ethnic make up of a population. Ethnicities that are at risk for CAH are Hispanics, Italians, Ashkenazi Jews, Croatian/Slavic, Iranians and Yupik Inuits. (Among Yupik Inuits, the incidence of CAH is 1 in 300 births.)
Maple syrup urine disease
Maple syrup urine disease is a disorder in which the body can’t properly process some amino acids. This causes poor feeding, vomiting, developmental delays, lethargy and the sweet smelling urine which gives the disease it’s name. Maple syrup urine disease occurs in 1 in 185,000 infants worldwide. But it is especially common among Old Order Mennonite communities where the incidence is 1 in 380 births.
Treacher Collins Syndrome
TCS affects the development of the face, ears, eyes and teeth. Most individuals have normal intelligence, but may have some hearing or sight impairments or respiratory issues. The facial features are distinctive and sometimes ears or teeth are absent. TCS occurs in about 1 in 50,000 births and affects boys girls and all ethnicities equally. The boy in the book and movie Wonder had Treacher Collins Syndrome.
This is a fatal degenerative neurological disorder that has controversially been added to the newborn screen in three states (New York, Missouri, Ohio). Most cases are found in people with Northern European heritage and a couple of isolated Muslim communities in Israel. The estimated incidence of Krabbe disease has been placed at 1 in 100,000. However, the newborn screen for Krabbe disease in New York and Missouri showed the incidence to be lower than anticipated in that area at 1 in 500,000 births.
And then there are really rare genetic diseases…
This extraordinarily rare disease had only 13 cases in the whole world…until 20 cropped up in the small polygamist community of the Fundamentalist Church of Jesus Christ of Latter Day Saints (FLDS) on the Utah-Arizona border. The cause was inbreeding, which led to a media sensation and a great deal of attention from the medical community. Though the news media predicted the end of the cult because of the high number of birth defects cropping up in their community, there will probably be fewer infants in general since leader Warren Jeffs outlawed sex for his followers in 2011.
One interesting thing to note is that our world has gotten so much bigger in the 250 years. People no longer have as few choices in marriage partners as they did when you never left the village you grew up in. Emigration to the New World brought about a more diverse gene pool. International air travel has made it easier for people to visit and move to new countries. Civil conflict has brought new people into different countries. Social barriers have dissolved and it’s more acceptable to marry someone from a different race or culture. All of these changes could mean that we see less of some of these diseases in the future as we become a more connected world.
This is an old (and yet new) issue. Abusive behavior and treatment of laboring women is pretty old. The early hospitals that promised a safer childbirth hid layers of abuse under a veil of scopolamine. Gone are the days of tying women to beds and blindfolding them during labor. Yet, it is still common practice to treat laboring women abusively. There is a relatively new term for this phenomenon: obstetrical violence.
Obstetrical violence is a recognized issue by the World Health Organization. The WHO defines obstetrical violence as disrespectful and abusive treatment of women during childbirth. A few countries like Argentina and Venezuela have introduced legislation aimed at protecting women from obstetrical violence. The WHO says that the issue of obstetrical violence is not confined to any particular socioeconomic or cultural space. It’s been observed in developing nations and developed nations across many cultures and religions. Here in America, even being a celebrity can’t save you from being verbally abused by your OB-GYN. In her interview on More Business of Being Born, actress Melissa Joan Hart described how during the birth her first child her doctor yelled “You’re one push away from a c-section!” at her repeatedly.
Obstetrical violence isn’t anything new. Especially with the advent of scopolamine, abuse of laboring women became the standard of care. Scopolamine took away the memory of childbirth, but it also caused women to become so delirious that they were difficult to control. The 1914 Trained Nurse and Hospital Review described women under the influence of scopolamine as becoming so unruly they were given more narcotics. The babies were born heavily narcotized and even asphyxiated. With the delirium and wild behavior, women had to be restrained and doctors frequently used forceps for deliveries, often injuring both the mother and the baby. Of course the women remembered none of this and the fathers were not allowed to see what was going on. (For a doctor’s account of this read my post on Michael Crichton’s obstetrics rotation from his days as a doctor.)
Even today when scopolamine is no longer used, women are still susceptible to abuse and exploitation in labor because of the simple fact that labor is so intense that it becomes difficult to focus and make decisions. (When I was in labor with my oldest, my husband asked me if I was having a contraction and I said, “I don’t know.” This was after getting on all fours in the middle of Target because I could no longer stand or walk through the contractions.)
This is precisely why some care providers feel that pregnant women should simply do what they are ordered to do whatever they are told. However, this vulnerability is all the more reason why pregnant women need more protection, not less. People who are vulnerable are extremely likely to be exploited, which is why we rules for additional protections in were instated for pregnant women, fetuses, children and prisoners in human research. For obstetrical care this is especially true in countries like the United States where outdated and harmful procedures are still routinely used in childbirth or legitimate procedures are overused. And of course, the article in Broadly that has been going around describes several incidents of verbal, physical and sexual abuse that have absolutely no place in civilized society, let alone a health care facility.
Another pressure point that is the safety of the baby. When you are not in a clear mental state and an authority figure says you need to do something for the safety of your baby, you’re likely to do it— regardless of whether it’s safe or necessary. This is why I’m including obstetrical violence as part of my curriculum in my upcoming childbirth class that will be released later this year.
We talk openly about woman’s right to bodily autonomy when it comes to sexual consent, abortion and birth control. But for far too long, laboring women have been ignored by the women’s rights movement. It’s past time that health authorities and women start talking about this issue.
Maybe you heard about Caroline Malatesta and Brookwood Medical Center in Alabama. Brookwood Medical Center used to have a big advertising campaign saying they would honor personalized birth plans, provide wireless fetal monitors, water birth and specially trained nurses for natural birth. Long story short, Caroline Malatesta chose to deliver her fourth baby there because the hospital promised such a great experience and she ended up with permanent puedenal nerve damage after two nurses twisted her wrist and forearm to force her into a supine position from a hands and knees position while holding her son’s head in her vagina for six minutes so the doctor would be present for delivery. There were no specially trained nurses or wireless monitors and water birth, birthing balls and birthing bars were not made available. And Caroline Malatesta has chronic pain and injury that prevents her from having normal sexual intercourse or having any more children. She and her husband successfully sued Brookwood Medical Center for $16 million dollars.
Talk about a bait-and-switch.
I used the Caroline Malatesta case in one of my papers on organizational culture in healthcare because it was an excellent example of how a hospital can not deliver better care without changing their culture. I’ve been taking a class on healthcare administration for my MPH and it’s been an amazing chance to look behind the curtain at how our healthcare system is functioning… and how to work that system to your advantage.
So I am excited to announce the name of my childbirth class that will be out later this year (drumroll please):
How To Get The Birth You Want…No Matter What
Here are a few things class will do for you:
- Help you avoid becoming a victim of obstetric violence.
- Help you decrease your time in labor
- Help you protect yourself from bait-and-switch hospitals
- Avoid unnecessary c-sections…
- …Or have a better necessary c-section
- The good, the bad and the ugly of different pain medications during labor
- For Dads- avoid the “she-said-she-wanted-a-natural-birth-and-now-she’s-screaming-for-drugs” dilemma
- Avoid birth plan pitfalls
- Prepare for the birth you want NOW- before labor starts. (Once labor starts, it’s too late.)
- What is necessary and unnecessary for a healthy and safe birth (and why)
- Tests that may save your life or your baby’s life that your doctor may not be aware of
- Why most special pregnancy diets are not very helpful for you or your baby… and what you really need to eat to be healthy
Stay tuned for more updates and tell your friends that a new method of teaching is coming. You can also sign up for my email newsletter to stay posted!
I was talking with a friend of mine who is expecting her fourth baby this summer. She wasn’t terribly thrilled over having to get a gestational diabetes screening— after all, her only risk factor was being over 25. She was already getting the bubble wrap treatment because she will be turning 35 a month before her due date.
Having a baby after 35 is considered “advanced maternal age” (formerly known as “geriatric mother”) and is classified as “high risk”. I haven’t hit the big 3-5 time bomb yet, but in a couple of years I will. And I’ve always been annoyed that despite exercising daily and eating a diet high in produce, whole grains, and different protein sources and devoid of refined sugar, I’m considered higher risk for gestational diabetes than some 20 year old bingeing on gummy worms and Coke.
And that brings me to my point: How high risk is pregnancy over 35?
When doctors say that there are special concerns for pregnancy over 35, here is specifically what they are talking about:
- High blood pressure and cholesterol as risk factors for stroke and heart attack
- Down syndrome
- Pregnancy problems related to fertility treatments
- Impaired muscle contraction in the uterus
- Higher risk of stillbirth among first-time mothers over 35
- Gestational and type 2 diabetes
You’ve probably noticed that many of these things are not a universal “over-35 risk”. Most mothers over 35 are not first time mothers, many get pregnant naturally and many lifestyle related problems like high cholesterol, high blood pressure and type 2 diabetes would be problematic in mothers under 35 as well. Down Syndrome is more likely to occur in births to mothers over 35, but Down Syndrome isn’t a definite indication for pregnancy and labor complications. As for the impaired muscle contraction in the uterus, that was a study on mice and it doesn’t take into account the many variables surrounding birth such as having a doula or the place of birth.
According to the CDC, in 2016 the fertility rate for women ages 30-34 surpassed the fertility rate for women ages 25-29 for the first time in three decades. The average age of first birth for American women is now 28. For now, more and more women are having babies after 35. It’s time to get rid of the idea that age alone is a risk factor for pregnancy. Being under 35 (or 25 in the case of gestational diabetes) doesn’t mean a woman is healthy or low-risk and being over 35 doesn’t mean a mother is unhealthy or high risk. Let’s take look at the actual risks for different mothers and provide care based on real-not theoretical- risks.
I have had two miscarriages. Both were very early. It hurt to lose the promise of a new baby, but I was fortunate that each was followed by a successful pregnancy. I like to think that each of those miscarriages was my baby trying to get here against difficulty.
Everyone has a different way to view pregnancy and infant loss, including Buddhists.
According to Buddhist teachings, the souls of those who die before birth or shortly afterwards would be doomed to pile rocks in limbo because they could not accrue enough karma for themselves in this life. And every night the demons are said to knock down the piles of rocks. But Jizo is there to help them.
Jizo is said to be a monk who reached enlightenment through great personal effort. But he postponed his ascension into Buddhahood to save all souls from the torments of hell between the time of the passing of Shakyamuni (the Buddha of our age), and the arrival of the future Buddha, Maitreya. Jizo is most popular in Japan where he is revered as the “good” judge of hell who has the power to save souls from the punishments meted out by the other nine judges of hell. He is also regarded as a protector of travelers, so statues of Jizo line the roads of Japan.
Perhaps it is because of this special power that he has come to be known for protecting the souls of babies who die before they are born (through miscarriage, abortion or stillbirth) and children who die at a young age. In Japan, parents who have lost a child have placed statues of Jizo by the grave of their child as a way of asking Jizo to relieve their child of hard labors. Sometimes there are little piles of rocks built by the statues as a way of helping the child with his or her labors.
These statues of Jizo often depict him as a small monk with smiling features. Since clothing a Jizo statue is a way of gaining merit, parents will often decorate the statues with clothes, toys or red bibs or hats. (Red is a color of protection.) Offerings of candy or fruit are also sometimes left at the base of the statue. Some of the major Buddhist temples in Japan have sections of graveyards with Jizo statues as a remembrance of children who left too soon and a prayer that they will have peace in the world to come.
Outside of Japan, some parents who have experienced pregnancy or infant loss will keep a Jizo figurine as a reminder that no life is too brief to be important. In America, some Buddhist monasteries will do a special ceremony called a mizuko kuyo for parents who have experienced a loss. The mizuko kuyo is a recent development- it’s only been around since after World War II. In Japan, the ceremony focuses on Jizo’s intervention. In America, it’s more about helping parents with the grief. Participants make a token, like a necklace or bib, before the ceremony. During the ceremony, they chant the mantra associated with Jizo and place their token on the statue and a piece of paper with the baby’s name on it.
Many of you have noticed that it’s been a while since I last posted. Here’s why:
We were all buckled up according to the laws of the state we were driving in, though some people definitely take more extreme measures, like 4 year olds in rear-facing carseats and tweens in booster seats. Our kids were in basic carseat/booster seat that were on the approved list. But being hit in a major car crash has made me wonder about our current car seat laws/beliefs. Here is what I have found:
Forward facing vs. rear facing
Wow. The level of zeal over rear facing car seats reaches a level of near religiosity. How did it start?
In 2007 the Henary, Sherwood, Crandall, et.al. study was published in the Journal of Injury Prevention. It analyzed data from the US National Highway Traffic Safety Administration vehicle crash database for the years 1988–2003 for children ages 0-23 months. The results of this study found that children in forward facing car seats were significantly more likely to be seriously injured in a car crash than children in rear facing car seats.
The world of children’s health and safety exploded with rear-facing zeal.
From KidsSittingSafe.com: “The data relating to the type and location of child car seat are also striking. The car seat statistics on rear-facing car seats backup the latest recommendations of the American Academy of Pediatrics (AAP) that kids should remain in rear-facing car seats until at least the age of two.”
From CarSeatsfortheLittles.com: “Rear facing is not a choice to be made based on parenting style or opinion; it’s one based on scientific fact. The more we know about physics and physiology, the better we’re able to protect our kids from severe injury as a result of a crash.” (The title of this article claimed that it was a “science junkie’s guide” to carseats.)
From the Carseat Lady: “It’s not a coincidence that flight attendants sit rear facing. Rear facing is the safest way for everyone to travel, not just babies. Therefore it is our recommendation that children ride rear-facing until at least age 2– and ideally longer, until reaching the maximum height or weight for rear-facing in their convertible car seat, which for most kids is 2-4 years old.”
From SafeRide4Kids.com: “So it baffles me when parents want to turn their children forward facing earlier than necessary. I’ve spoken to a lot of parents who treat a first birthday as some sort of graduation to forward facing. Many other parents begin to get concerned about possible leg injuries because the child’s legs are folded. Other parents simply are under the impression that their child must be uncomfortable.
Why is this? Because the parent would be uncomfortable sitting criss-cross applesauce? Personally, I like sitting criss-cross applesauce and could definitely sleep better in the car leaning back with sides upon which to lean my head. Do they make a rear-facing adult passenger seat? It’s coming, I know it, because it’s soooo much SAFER for everyone!”
Awfully high praise for a practice that has no grounding in sound data.
Yep. I just said that. And here is the data and analysis to back up that assertion…
Henary, Sherwood, Crandall, et.al. Study Retracted
This study formed the basis for the rear-facing car seat policy that has been accepted as fact. In order for an idea to be accepted as scientifically based, it has to be replicable. If the results can’t be replicated, it can’t be classified as science. If the results can’t be replicated it’s a fluke or bad research.
Sweden’s “rear-facing until 4” laws are often cited as another proof that rear-facing is safer than forward-facing, but this is what we in the research world call confounding. Sweden just has the lowest rates of traffic related fatalities in the world— across all age groups. Sweden has built roads and pedestrian crossings to be safer and is aggressive about enforcing drunk driving. They also have lower speed limits in urban areas. So there are a multitude of factors that are behind Sweden’s low rates of traffic fatalities for adults and children.
You could only attribute Sweden’s low rate of child traffic fatalities to rear-facing car seats if all other factors were the same when comparing Sweden to other countries. Since there are other factors that are at play in Sweden, Sweden’s use of rear-facing car-seats until age 4 can not be used as proof that rear-facing car-seats are safer than forward-facing. In fact, according to the National Highway and Traffic Safety Administration, in 2016 6% Of infants under the age of 1 who died in a car crash were forward facing while 21% were rear facing. (In 2015, those numbers for fatalities for children under 1 were 6% forward-facing and 33% rear-facing.) If rear facing car seats alone were really responsible for Sweden’s low rates of infant traffic mortality, then the rear facing car seat mandate should have resulted in similarly low rates in the US. But it hasn’t.
As A Side Note… This Kind of “Science” Would Have Gotten Bad Grades In My MPH Classes
Now, this is where the double standard of research in the classroom vs. policy in the real world. I’ve taken classes for my MPH in public health policy, research methods and program planning. If I had come to any of my professors and said I wanted to do a research proposal or public health program using a study that can’t be replicated and a case study with confounded data, I would have gotten the research smack down. My professors would have told me I need to select a different topic or do more/better research. But in the real world where public health can be a matter of life and death, we’re often quick to jump on unsubstantiated research if it seems to hold the promise of solving a problem or saving lives.
Now there’s no conclusive evidence yet that placing your child rear-facing is harmful. (The stats from the NHTSA for 2015 and 2016 aren’t specific enough to account for all variables and only cover two years.) But the data is pretty clear that it won’t provide better protection than forward-facing.
What About Booster Seats?
The longer you keep a child in a booster seat, the better right? After all, the American Academy of Pediatrics says that kids should be in a booster seat until 8-12 years. Not quite…
So here’s the deal behind the research that informed this policy. Some of it came from telephone surveys— which are informative but may be more limited than data from sources like the NHTSA. Another weakness is that much of the data comes from 1998 to 2003 when booster seats were not as widely used. This means that the sample sizes would have been much smaller, so it can’t tell us as much about what it means to have all children in booster seats. (Fun fact: the CDC is still using this data and has not addressed any of the newer findings about booster seats.) A 2013 study that compares larger data sets found that children in booster seats had an equal level of overall risk for injury when compared with children restrained with only a seat belt, however children in a booster were more likely to receive non-fatal injuries to the neck and chest than children who were restrained with only a seat belt. Seat belts and booster seats were equally effective at preventing death. More research is needed to find out if this can be improved with proper usage of booster seats or if there is still no improvement.
Ok, so what can I do to protect my child?!
Buckle your kid up according to the law and don’t drive intoxicated. 35% of all child traffic fatalities were in unrestrained children. Between 2001 and 2010, 1 in 5 child traffic fatalities (<15 years old, passengers) involved drunk driving. 65% of those were children in the car with a drunk driver.
Even with all the new safety measures mandated, the United States has some of the highest traffic fatality rates of any nation in the developed world. Sweden is particularly aggressive at preventing traffic fatalities and sees them as 100% preventable not as inevitable or “accidental”. America has not adopted that approach. According to the releases from the NHTSA I cited above, traffic fatalities are on the rise here in the US- including among children ages 0-8. According to the lore of paramedics and the Insurance Institute for Highway Safety, in a crash the bigger car will generally come out ahead, so driving a SUV might give you more protection in a crash, though that’s not practical for everyone.
The front of our SUV took the brunt of the crash and the air bags deployed, so it’s a good thing the kids were in the back. Even with all the new gadgets and harnesses being touted on the market and the fervor over rear-facing preschoolers and booster seats for tweens, your best bet is still to make sure your child is adequately restrained in a good car seat. Watch the straps, make sure they are tight enough and the seat is latched in properly.
Here in America, many of the decisions about health care are based on how hospitals can gain a competitive edge in the marketplace, not on benefits to patients. Read my post here for more details on how this works. Prenatal surgery for spina bifida myelomeningocele is a specialized service that hospitals can offer to stand apart from other hospitals that might be competing for patients. And that dynamic means that it’s in the hospital’s interest to perform as many prenatal surgeries as possible– whether the child and mother will benefit or not.
I have seen some centers that do explain that prenatal surgery has risks and that it’s not a guarantee…and then I see others that really push it as the answer to parents’ problems. And then I see news articles that get in on the act talking about the heroism of the whole endeavor.
This may be why I see so many parents, surgical centers (and news articles) who are excited about what amount to very average results for SB, like walking with a walker and not being a vegetable. There some children who are doing better like walking consistently without a device or not having a shunt. But most parents have been told by doctors that their child will be a bed ridden vegetable so their expectations are very low. The equation looks something like this: (Spina bifida-accurate information) + 10 (prenatal surgery)= MIRACLE!!!
I see a need to further explain the issues related to this procedure beyond my previous post on the subject. And so this is one question I tackled in a health ethics class paper…
“Media sensation can also cloud the issues surrounding new treatments. When the results of the randomized trial comparing outcomes for infants receiving prenatal and postnatal surgical repair of lesions associated with spina bifida myelomeningocele were released, news outlets quickly began broadcasting stories of the surgery, primarily focusing on the positive outcomes such as reduced need for ventriculoperitoneal shunts at 12 months of age and an increased ability to walk with crutches at two and a half years of age. For news coverage, the stories of grateful parents who believe their children have a dramatically improved life from a new medical procedure is very appealing.
However, the actual article published by the researchers who conducted the trial was optimistic but contained several cautions. The authors noted that surgery dramatically increased the risk of preterm birth and pregnancy complications and had future reproductive consequences for mothers. They also pointed out that while the in-utero surgery group averaged better outcomes at 12 months and 24 months, that some children who underwent in-utero surgery had no better outcome that children who underwent postnatal surgery. It was also unknown how long the benefits from the in-utero surgery would last or if the surgery would have any benefit for bowel and bladder or sexual function in children with myelomeningocele (Adzick, Thom, Spong, et. al., 2011).
As in-utero surgery has expanded and more hospitals are trying to attract potential patients, the temptation to overemphasize the benefits of the surgery remain. In their announcement of the first in-utero surgery for myelomeningocele in Texas, Children’s Memorial Hermann (2017) stated that the surgery had many risks, but summarized the findings of the 2011 Adzick study by stating “The study found that if a baby undergoes surgery in utero, the serious complications associated with spina bifida could be reversed or lessened with the operation.” While the statement is not entirely inaccurate because the surgery did find a reduced risk for certain outcomes, it is not accurate either since it neglects to point out the limitations of the procedure as well.
Children’s Hospital of Philadelphia (2017) states on their website that the procedure “… is shown to offer significantly better results than traditional repair after birth.” This statement also neglects to mention that some children may receive no benefit from the surgery. Vanderbilt Hospital (2010) has a presentation on their website about Emily Dotegoski, the 19th infant to undergo in-utero repair and the benefits they feel the surgery has had for her. The benefits cited were attending a regular school, getting good grades and going to physical therapy- all of which are normal for a child with spina bifida myelomeningocele whether repair happens before or after birth. Emily can walk unassisted over short distances, but still uses a wheelchair most of the time- also normal for any child with spina bifida myelomenigocele. In the case of Emily Dotegoski, the surgery may have had few benefits over traditional repair, though the outcome is represented as being exceptional and due to the procedure.
While a webpage does not constitute a full disclosure of risks and benefits, the nuances of how the procedure is “sold” to parents is an issue of concern. In utero surgery for repair of myelomeningocele can only be performed between 19 and 25 weeks gestation while diagnosis typically comes at 15-20 weeks gestation. This gives parents a very short window of time to make a decision about in-utero surgery when they are in a very emotionally vulnerable state. For the hospitals that offer in-utero surgery as a distinguishing specialty, it is in their best interest to recruit as many qualifying patients as possible. Complicating the issue further is the fact that no research has yet been able to pinpoint which children will derive benefit from the procedure and which will not, only that the average outcome as measured during 12 months and two and a half years of age is better for children who underwent prenatal versus postnatal surgery.
Prenatal surgery for myelomeningocele falls into a crossroads between beneficence and maleficence because it may benefit some infants but not others and the associated risks of pregnancy complications may harm some mothers and infants but not others. The tolerance for risk and the expectation of benefits may vary from family to family. The important issue is whether parents have an accurate understanding of the risks and benefits when the option is presented to them or if they are consenting to the procedure based on an unrealistically negative perception of postnatal surgery and unrealistically positive perception of the prenatal surgery.
Adzick, N. Scott, Thom, Elizabeth A., Spong, Catherine Y., Brock, John W., Burrows, Pamela K., Johnson, Mark P. , Howell, Lori J., Farrell, Jody A., Dabrowiak, Mary E., Sutton, Leslie N., Gupta, Nalin, Tulipan, Noel B., D’Alton, Mary E., and Farmer, Diana L. (2011). A Randomized Trial of Prenatal versus Postnatal Repair of Myelomeningocele. New England Journal of Medicine; 364:993-1004. DOI: 10.1056/NEJMoa1014379
Children’s Memorial Hermann (2017). Faith: Surgery in the Womb to Repair Spina Bifida. Retrieved from http://childrens.memorialhermann.org/patients-families/faith–surgery-in-the-womb-to-repair-spina-bifida/
Children’s Hospital of Philadelphia (2017). Fetal Surgery for Spina Bifida (Myelomeningocele). Retrieved from http://www.chop.edu/treatments/fetal-surgery-spina-bifida
Children’s Hospital at Vanderbilt (2010). Emily’s Dotegoski, fetal surgery for repair of spina bifida. Retrieved from https://www.childrenshospital.vanderbilt.org/services.php?mid=6296&slideshow_id=88“
“Yes, it can be sad and messy and powerful and
hard and normal and absurd and
everything in between.”- Zen Hospice Project website
I’ve always felt that birth and death were very similar in many ways. If you believe in the concept of a soul or spirit, the idea that birth is a type of death and death is a type of birth applies, since leaving one world means moving into the next.
Have you seen BJ Miller’s TED talk on hospice care? It sounds counter-intuitive, but the model of care that is slowly taking over end-of-life care has LOTS to teach us about beginning of life care. BJ Miller has a lot of very astute observations borne out of his experience of being on palliative care after losing both legs and an arm and sustaining serious burns in an accident. He has also helped hundreds of people die with dignity and love at the Zen Hospice Project in San Francisco. Here are some ways we could take his thoughts on hospice care and translate them to birth care:
A system designed with diseases in mind and not people
Dr. Miller says that health professionals go into the healthcare field with good intentions but become unwitting agents of a system that doesn’t serve the needs of patients. He says this is because we have a system that is centered around treating diseases and not treating people.
We have this exact problem with birth care in America. Childbirth is seen as a dangerous medical condition that is so fraught with peril that constant vigilance is required to keep both mother and baby alive.
Of course this is the height of hubris.
Evolutionary biology would require that for any species to survive, the process of reproduction must allow both the mother and the offspring to survive without intervention most of the time. Our interventions are there to improve on that and allow more mothers and babies to live who might not live otherwise.
People are afraid of suffering
Folks, I’m going to level with you about something:
You can not get a human being out of your body without some kind of discomfort.
There will be some kind of suffering associated with giving birth- any birth. Cesarean, vaginal, natural, medicated and hell yeah you would be suffering if you were to get something like scopolamine. (You just wouldn’t remember it. It was kind of like the GHB of obstetrics.)
I love how Dr. Miller gets into this concept of suffering. He says that there is suffering we can’t do anything about, that is just a part of life and then there is suffering that can be alleviated.
Suffering we can’t alleviate
Dr. Miller says this is the kind of suffering we need to make space for. It gives us a sense of cosmic proportionality. (Remember, he was a burn victim and triple amputee. He knows about suffering.)
Labor is like this. I’m not going all “curse of Eve” here. Labor pushes your body to the maximum and it is an intense experience. The immediacy you will feel to get this little body out of your body is overwhelming. As I said in my bio, I’m just not one of those birthing goddesses. When I give birth I suffer.
But to me, there is beauty in that suffering.
Even the fear and sadness that accompanied my first son’s birth has beauty. What was most beautiful is how much I did love him. Despite all the depression and anxiety, the moments I bonded with him touched my soul and bound him to me even when he was separated from me. The victory I felt when my second son was born would not have been possible without the hardship of my first son’s birth. The sweetness of my daughter’s birth stands out as one of the most incredible moments of my life. I think I was able to feel that attachment and joy better because I went through each stage of suffering. I felt alive as I was giving life.
A pain free birth shouldn’t be the goal. A birth with dignity and respect, whatever way it happens, should be our goal. As Dr. Miller says, “Necessary suffering creates compassion and unites caregiver and care receiver.”
Suffering we can alleviate
Dr. Miller points out that on the systems side, much suffering is created and invented that serves no purpose.
And this is true of birth care in the US. The vast majority of labor interventions in the United States do not improve the safety of the mother or baby. Some are outright more dangerous than a simple natural labor. Some simply need to be used less frequently and more judiciously. (For a whole run down on all of the unnecessary and overused procedures that are still being commonly used in childbirth in America, see this post complete with scholarly citations embedded.) We need to get rid of the things that cause unnecessary suffering in birth.
Palliative care- living well at every stage
Dr. Miller makes a distinction between palliative and hospice care. The two are often used interchangeably but are different. Hospice care is about end-of-life care. But palliative care is about living well at every stage and eliminating suffering as much as possible.
He gives the example of Frank, a patient with prostate cancer and HIV who went rafting on the Colorado River. Dr. Miller’s response to this was, yeah, it was dangerous. But what an adventure! This man knows that his time on earth is limited and he wants to experience an adventure while he still has the chance. Rafting the Colorado River helped alleviate his suffering and allowed him to live better.
Mind-blowing idea: What if approached birth like palliative care? What if the idea behind birth care was to birth well, no matter what your circumstance?
Rose petals at the end
Dr. Miller says that at the Zen Hospice Project where he works, they have a ritual they perform for everyone who dies there. When the person dies, the coroner’s office comes to collect the body. The staff at Zen Hospice have arranged that before the body is taken away, loved ones and staff come and sprinkle rose petals over the body and say anything they want to. They might sing songs or read poems before the body is taken away.
Rose petals on the body don’t serve any medical or physical need.
But it’s beautiful. And dignified. It shows honor for what has taken place.
What if we treated birth like this, with warmth and joy rather than repugnance and contempt?
Hospitals are anesthetic, not aesthetic
Dr. Miller says that hospitals offer an anesthetic experience, not an aesthetic experience. That numbness takes away the pain and the joy. He very rightly points out that hospitals are for acute trauma and treatable illnesses.
Of course, birth is generally neither of these. This is why moving more births into birthing centers makes sense– and even improving care for home births.
First eliminate unnecessary suffering, then comfort the senses
This is Dr. Miller’s framework for end of life care. And it should guide us for maternity care as well. There is nothing about eliminating unnecessary suffering or providing comfort that inherently makes birth unsafe. Even when cesareans or inductions are medically indicated, the parents and baby can be treated with respect and allowed reasonable comfort measures. Skin-to-skin contact for breastfeeding initiation after a cesarean can almost always take place.
Truly, we need to lift our sights to well-being as Dr. Miller says. Health care should be about living better. In the context of maternity care, we need to move past the “live baby standard”. We need to start asking if the birth was about the well-being of the mother and baby, not just whether the baby survived. (And that “at least your baby is alive” standard takes on a dark irony when you find out that the State of the Mothers World Report ranks the United States as having the highest rate of first day mortality of any developed nation.)
Dr. Miller says we need to give rise to art in dying. We need to make space for “a crescendo”.
Let’s do that for giving birth too.
“Rituals could feed conflict by turning opinions into ‘sacred values’.”– Scott Atran, director of anthropological research at Centre National de la Recherche Scientifique
“Definition of myth: a usually traditional story of ostensibly historical events that serves to unfold part of the world view of a people or explain a practice, belief, or natural phenomenon.”– Merriam-Webster Dictionary
Once Upon A Time…
“Do you know what women were dreaming of when they were giving birth in a cabin with the wolverines prowling around? A hospital! This sterile environment where their baby would be safe!!!”
I was listening to one of my favorite podcasts and had encountered a moment in an otherwise great podcast that irked me. Two men- only one of whom had even witnessed a birth in a hospital- expounding on the history of childbirth. ( I love how anyone, man or woman, who may not have ever even seen a birth but believes hospital birth to be 100% safe is suddenly more of an expert on childbirth than any midwife, doula or mother.)
It’s completely understandable that they would think that hospital birth reduced neonatal and maternal mortality. Most people think that’s how the story goes.
But it’s not.
The Actual Data Behind Hospital Birth
Hospitals and even doctor care were actually much higher risk for most births in the 19th and early 20th centuries. For example in her book Inside The Victorian Home, Judith Flanders describes how women who had midwife care had lower rates of death than women who delivered with doctors because doctors spread infections from vaginal dilation checks. Ignaz Semmelweis formed his ideas of the transmission of puerperal fever after noticing that women who gave the birth in the street had lower rates of death than women who gave birth in the obstetrical clinic with doctors in attendance. (These clinics catered to low-income women who wanted the doctor care after their baby was born, but were terrified of the 10% mortality rate of the clinic. These women frequently chose to give birth on their own claiming precipitous labor rather than risk delivery in the clinic.)
Even into the 20th century women who delivered with midwives had a better chance of surviving delivery. Records from England and Wales in the 1930’s showed that the wives of manual laborers who had midwife care had better survival rates than higher income women who had doctor care for pregnancy and birth. And infant mortality? Many hospitals in the early 20th century had higher rates of infant mortality because of the increased use of forceps and other equipment. The White House Conference on Child Health and Protection of 1933 found that during the period between 1915 and 1929 there was a sharp increase in the number of hospital births, along with a 40-50% increase in infant mortality due to birth injury.
Long story short, if you believe that women with uncomplicated pregnancies can deliver safely outside a hospital, you are right. It is a myth that hospitals and doctors lowered the rates of maternal and neonatal mortality. Birth moved into the hospital because scopolamine was touted as a way to spare women the pain of childbirth. But if you really believe that tying a laboring woman to a hospital bed and giving her a hallucinogenic drug that leaves her paranoid is an improvement over a natural birth, I think you need to reevaluate your morals.
Legends And Tall Tales From Public Health
Let’s take on another popular myth: Jonas Salk single handedly saved the world from polio out of sheer altruism. It makes a great epic, something like Beowulf or King Arthur, but there is no data to back that story. The 1955 Vital Statistics report states that the Salk polio vaccine could not be completely responsible for the decline in polio because polio declined for all age groups, though the vaccine was given only to children. The Salk and Sabin (sugar cubes) vaccines were both widely used so the Salk vaccine can not be credited with ending polio.
Salk and his work also had their own sets of flaws. He tested flu vaccines on mental patients who were unable to consent and unable to adequately describe symptoms for research purposes. And a mysterious batch of the Salk vaccine from Cutter Laboratories also caused the death 10 and paralysis of more than 200 children. Salk’s remark that he could no more patent the sun than his vaccine was more a reflection on how he could not patent his vaccine because of prior art. (Others had done similar vaccine research and trials.) In fact, Salk and the National Infantile Paralysis Foundation had looked into patenting Salk’s IPV. Getting personal about Salk, a book that came out a little while ago about him and Sabin portrays Salk as an ambitious scientist who could be difficult to work with. And for that matter, statistics show that before either Salk or Sabin vaccines were released polio rates were in an overall downward trend.
Louis Pasteur a genius? He stole ruthlessly from others and misrepresented his work. (It’s no wonder he didn’t want his notebooks released to the public.) Edward Jenner was known to be very proud of his son Edward Jr. and loved him dearly. However, he also Used his son as a test subject over and over again, repeatedly inoculating him and then exposing him to diseases. Sometimes Edward Jr. recovered and other times he became seriously ill. (Some have speculated that Edward Jenner Jr.’s mental and physical impairments may have been caused by the repeated cycle of illness or contaminated inoculation materials, though it’s hard to say one way or the other.)
Even breastfeeding comes with its own set of myths from both sides- either that it makes your baby smarter or that it really doesn’t have any substantial health benefits. Both are untrue, but different sides of the breastfeeding debate cling to these myths. Ultimately, those myths end up hurting mothers and babies because they alienate women who encounter difficulties and create a “us” vs. “them” dynamic. That’s why I designed my curriculum to be as “myth free” as possible. I want any woman who is interested in breastfeeding to feel welcome to learn more.
The More Things Change, The More They Stay The Same
In so many ways, we are no different than our ancestors. We tell stories about heroes, monsters, rituals and weapons to try to understand our world. And we live in a world that is still full of fear and uncertainty despite our technology and efforts. 99% of births in the US take place in hospitals, 30% of which are c-sections- and the US still has the highest rate of maternal and first day infant mortality of any developed nation. People don’t worry about polio any more, but acute flaccid paralysis is on the rise and emerging diseases like the nonpolio enterovirus EV-D68 are causing more cases of serious disease. We still have little control over our world.
What If We Approached New Health Data Like A Black Hole?
In my opinion, we in the health field need to take some lessons from the astrophysics folk. They are always finding out new information about our universe that makes them re-think current models. When that happens, they say, “COOL! This helps us better understand the universe we live in!” I think it’s hard for public health and medical professionals to take that attitude because everything feels so high stakes. After all, discovering a super massive black hole from the early days after the Big Bang doesn’t impact anyone’s health or life.
Kevlar Vest Or Security Blanket?
The problem with myths is that they are security blankets: they feel comforting but don’t provide any actual protection. Myths becomes an even bigger problem when people start thinking their security blanket is actually a Kevlar vest. This is what happened with puerperal fever. Though Dr. Semmelweis had shown strong evidence that doctors’ lack of hygiene was spreading the disease, the widely accepted myth that puerperal fever spread through the air and was exacerbated by womens’ emotional nature prevented the acceptance of handwashing for almost a century, costing the lives of millions of mothers.
Just because “everyone” says things are a certain way doesn’t mean it’s true. If you find something doesn’t match up, it’s OK to ask questions and look for data to find out if you are dealing with a sound hypothesis or a myth.
If you’re breastfeeding you need fenugreek, right? Who couldn’t use a little more milk supply?
When you’re breastfeeding, fenugreek might seem like the go-to remedy when things aren’t going well. But before you rush out to your local health foods store or look for Amazon’s top pick, STOP.
Fenugreek may not be the answer for you.
Some studies and several moms have reported that fenugreek can increase milk supply.
…sometimes a galactagogue is not the answer.
Will Fenugreek Help?
There are certain times that fenugreek may not help:
- Tongue-tie/ lip-tie
- Stress induced drop in milk supply
- Inverted nipples
So it doesn’t matter how much fenugreek (or lactation cookies or teas) that you take, your baby won’t nurse well if you’re having one of the above problems. The good news is that most of these problems have solutions, but the solutions just won’t involve fenugreek. (Having a problem and you don’t what the cause is or what the heck to do about it? Take one of my breastfeeding classes and you’ll get some answers and solutions. I designed my curriculum with you in mind.)
It’s also important to understand that any kind of galactagogue is only a small part of addressing real milk supply issues. Milk supply depends primarily on the stimulation provided by the baby suckling at the breast or from using a breast pump. So if you’re separated from your baby because of an emergency c-section or your baby is in the NICU, taking supplements WILL NOT be enough to build an adequate milk supply– you will have to pump. (Believe me, I spent two weeks pumping around the clock for my oldest and if I could have breastfed him by eating teas and cookies instead of pulling out that pump one more time at some forsaken hour of the late night or early morning, I would have done it. I feel it your pain.)
So even if you really do have low milk supply, you’ll have to do frequent nursing and pumping sessions to build your milk supply. Supplements, teas and cookies can bump it up a little, but they can’t do anything without the stimulation of nursing a baby or pumping.
Fenugreek- What It Can Do
So when do you use fenugreek? And what can you expect?
If you are regularly nursing and/or pumping and you or your baby don’t have any of the other conditions listed above, you can take fenugreek to help bring your milk supply up a little bit more.
Fenugreek isn’t the only galactagogue out there either. My personal favorite was hops tea. (Though hops tastes pretty bitter and you’ll want to add some lavender flowers and/or spearmint leaves to make it test palatable.) Oats and leafy greens are also supposed to be good for milk production. Personally, I think they do help. When I was exclusively pumping I had lots of green smoothies and oats and I always had enough milk. Again, it doesn’t take the place of pumping and nursing, but in my opinion, I think it helps. I also think that leafy greens and whole grains improves the nutritional quality of breastmilk.
Do You Really Need Fenugreek?
Most women can make an adequate supply of milk for their babies without any special supplements. However, perceived insufficient milk supply is actually quite prevalent. (Which is why include it in my curriculum.) A lot of women are turning to fenugreek and other supplements because they think they have a low milk supply- not because they actually do.
If you have breast hypoplasia, some supplements might be helpful in boosting milk supply. No guarantees, because breast hypoplasia can be really difficult. But this is a great story of a mom who had breast hypoplasia (also known as insufficient glandular tissue) and used a combination of several strategies- including some galactagogues- to bring up her milk supply.
Galactagogues like fenugreek do have a place in breastfeeding, but there is no magic pill for milk production. The bulk of your milk production is still determined by nursing your baby and pumping.
Two new videos have been added to the “Let Me Level With You” series!
So many parents have questions about hepatitis B and what the real risks are. Here’s the info on who is really at risk for hep B and why.
Prenatal testing seems simple on the surface. You get a test, it tells you if your baby has a birth defect or not.
Except that it doesn’t actually work that way.
In so many ways, prenatal testing has more in common with a roulette wheel or game of craps than a diagnostic procedure. This video has the most important things you need to know about prenatal testing like false positives, false negatives, perinatal hospice care, and quality life: