Osteogenesis Imperfecta · pregnancy · Prenatal Diagnosis

A New Conversation: Prenatal diagnosis, Genetics, Rare + the 20-week Anatomy Scan

“This was the gut-dropping, body-numbing moment…. this was the moment that we can refer to as the moment…. where there is a before this moment… and an after this moment…. this is the moment that divides… that creates the before photos… where I look at myself and think, “Oh, that’s the woman who she was before everything changed….”-Our 20-week anatomy scan, Inspiring Life Despite Diagnosis

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Common Anomalies

According to the CDC, 1 in 33 babies will be born with a birth defect. That’s 3% of all babies.

Many birth defects are preventable and others are not.

According to globalgenes.org, approximately 80% of rare diseases are not acquired, they are inherited.

That leaves a small portion of rare conditions attributed to spontaneous, random mutations, that are not inherited, but new gene mutations formed at conception.

According to globalgenes.org, 1 in 10 Americans is living with a rare disease.

I personally prefer the term “condition”, as I believe it to be a neutral term when describing a diagnosis.

Osteogenesis Imperfecta, for example, is considered a disorder, not a disease. Even just the language discrepancy between ‘disease’ and ‘disorder’ further sheds light on the complexity of this issue.

The issue being:

What do we do with parents who receive an abnormal 20-week-anatomy scan?

Pregnant women are guided into a 20-week-anatomy scan, and a small, dark room, with no context other than to “make sure everything is ok” and for a gender reveal if it’s wanted.

Then when an abnormality is discovered in this scan, it comes as a complete shock to parents. They are then shuffled to a genetic counselor and physician who continues to essentially scare the hell out of them.

Because they don’t know…. and when you think about it, making such a pronounced judgement on a human being that is only about 1/2 the size of a smartphone and just 50% started…. is quite a presumption.

Medical providers want to sound compassionate and sincere, but the bond has already been broken and things will never be the same again.

Because parents are blindly led into a situation without their permission.

And then, when there is an abnormality that leads to a genetic counseling conversation, parents are too stunned and vulnerable to even participate appropriately or act in their best interest.

Physicians and genetic counselors are in a position of power and it further solidifies with this new information that leaves parents completely unprepared to advocate for themselves and their baby.

What parents don’t know when they go into this routine 20-week-anatomy scan, is that there are approximately 7,000 rare conditions known to exist and new ones discovered each year.

What they don’t know is that the genetic doctor and counselor that they have before them, should they find themselves in this position, most likely knows very little about the genetic condition that their baby may possibly be up against.

What they don’t know is that even with one of the most common congenital anomaly that occurs, Downs Syndrome, their medical providers will be coming to them with a naturally bias approach. The road they will soon travel will be carefully constructed based on the providers’ own experience and understanding of the suspected diagnosis, in addition to the rules and regulations of what they can and cannot say as providers.

This leaves parents with much to process and with very little emotional support.

Further testing will be scheduled, further ultrasounds will be required, and mama Dorothy has just been given her ruby slippers for a wild and crazy ride that she never knew she had the potential to be on.

A multi-disciplinary approach is necessary.

An OBGYN is not the doctor giving the ultrasound. Oftentimes, this routine ultrasound is performed by an ultrasound technician. In our case, she shared her concerns with us by having to “call the main hospital because the baby’s legs are measuring short.”

What we need to do is have a more mindful approach between our OBGYN or midwife and those who provide routine testing.

Most pregnant women, if they don’t have a history of genetic abnormalities in their family, are at low risk of having an abnormal anatomy scan.

However, is it more beneficial to still include her and her partner in the conversation BEFORE she lays on that hospital bed for her scan?

The battery of tests that pregnant women undergo ALREADY, is a precursor to birth trauma and post-partum struggles.

We instill worry in our mothers at that first appointment.

I’m not saying that there is nothing to be concerned about…. I’m saying that empowering our mothers should be just as important as taking her blood pressure.

Giving our mothers and their partners resources for emotional and mental support should be just as important as drawing her blood for the barrage of tests that will occur with or without her knowledge.

A midwifery model of care is one that should be examined for a whole-hearted, whole-body approach to prenatal care.

A wise pediatric orthopedic surgeon once told me, “I don’t have a crystal ball.”

This humbling and honest point must be applied to prenatal diagnosis.

Life is full of the unknown.

We don’t know what is going to happen a moment from now, tomorrow, or the next day.

A “normal” 20-week-anatomy scan, although sacred and monumental in its own right…. Does not guarantee anything.

Just like an “abnormal” scan doesn’t guarantee anything.

Raising children, like life, is unpredictable

A wise friend once told me, “Parenting is the hardest job on the planet.”

And it starts with getting comfortable with the uncomfortable.

It continues with research, education, learning and un-learning.

We aren’t saving parents from fear, worry and anxiety by not giving them all the information.

We are actually disempowering them and creating a relationship built on uncertainty.

We are robbing them of the opportunity of awareness and self-responsibility.

We are removing their ability to step into their power and come to the table as a partner, rather than as an inferior whose experience, intuition, skill-set and divine purpose is excluded from this conversation.

The disability we are so eager to illuminate, we are reassigning this disability to bright and miraculous human beings who were brought here for so much more than an evaluation in suspicions.

Give.parents.more.credit.

Give those who were born differently MORE CREDIT.

GIVE GOD AND THE TOTALITY OF POSSIBILITY MORE CREDIT.

An abnormality on an ultrasound can mean many different things to many different people. Some conditions will take a baby’s life 100% of the time. Other times, there may be a chance for survival. In other cases, medical interventions and complex care may become routine.

In some cases, a child will receive a diagnosis after they are

born. In other cases, a child will be diagnosed later in life.

Not only do I recognize the possibility that unwanted and unplanned things can happen at any time, I also recognize the totality of possibility that WE RECEIVE GIFTS FAR BEYOND OUR WILDEST DREAMS.

These gifts don’t always come in the way we expect them to.

They don’t always show up loud and clear for us to see in an obvious, blunt presentation….

….. and sometimes they do….

I’m asking physicians and those in the space of genetic counseling: Invite space for a deeper conversation…. A deeper awareness of this phenomenon that is prenatal diagnosis….

A time when a woman needs to listen to her inner strength, her higher power, her mother’s intuition, and her body…. That carries the ancestral memories of every mother who came before her that birthed their baby….

….. we are making her afraid and keeping her uninformed.

There is a time and place for information…. And I believe that when a woman knows ahead of time what the possibilities are, she, along with her partner, will feel more empowered to direct her own health and the heath of their baby.

Let’s invite a pregnant mother and her partner to ask, “What would that look like if something was off on my ultrasound?”

This would require medical providers to be prepared and thorough, inclusive of an answer, and a plan. A medical provider may say something like this to his or her patient:

“We know that the average fetus in-utero has all of these things… we know their size and position.  We know what they typically look like. In the rare chance that your ultrasound shows something that is different than what we typically see, we will let you know. If an ultrasound technician is performing your ultrasound and his or her notes are showing anything, she or he will send a message to the provider and that provider will enter the room. (This means that the technician will actually stay in the room and small talk until a provider arrives.)”

“We will share with you what we saw and invite you to speak further with a genetic counselor who may or may not be able to answer all of your questions. Again, although it is rare, there are thousands of conditions that we just don’t know everything about. Should we see something in your ultrasound, we will do the very best we can to provide you with the most current and up-to-date information that we have. And if we don’t know the answer, we will reach out to other specialists who know how to help. We will refer you and encourage you to do the same. We can also put you in touch with other families who have been in the same situation; we have found this to be very helpful.

Based on your medical history, I do not anticipate seeing anything that not’s typical. Approximately 80% of conditions that present themselves are due to hereditary reasons. This means the mother or father carries the gene and has the condition, but we have found it to be helpful to share this information with you ahead of time because there is still so much about genetics and the human body that we do not know.

The benefit to doing this ultrasound at this time, is because in the rare chance there is something different that presents itself, medical intervention may be beneficial.

Most of the time, the main benefit to this ultrasound, is so we can give you a sense of security that your baby is growing appropriately. And it gives us information so that if something does come up, we can be prepared.”

… Because once that baby is born, this relationship splits….

If you find yourself in this situation, you’ve just solidified yourself as a patient of Maternal Fetal Medicine (MFM). And in my experience with one of the surgeons who was part of the MFM group I gave birth with…. When I asked her about respiratory support for my baby, she said, “That would have to be Neonatology. My job is to take care of Mom and their job is to take care of Baby.”

Unborn baby is the responsibility of mom’s prenatal medical provider, and born baby is not.

Continuity of care is sacrificed for a mother and her partner who find themselves on a prenatal diagnosis journey.

It’s imperative to remember that the words spoken to this family will stay with them for the rest of their lives.

As of now, parents are being told there is something wrong with their baby.

Do you know what that means?

You’re not just saying that something is wrong with their anatomy, you are saying there is something wrong with who they are.

You may not mean to say it that way, but that’s how it’s being interpreted. That’s how it feels. And to expecting parents who just got shocked into a prenatal diagnosis journey, feelings are everything.

As a society we haven’t always been well versed in differences….. things like inclusion and acceptance… what they mean to so many…

I sure wasn’t.

But I’m learning…. parents, classmates, schools, teachers, caregivers…. everyone is becoming more compassionate and inclusive. And it’s amazing.

The way parents are spoken to when they receive a prenatal diagnosis matters.

The way medical providers view and speak about their textbook abnormalities…. matter.

The way in which parents are (or are not) guided down their prenatal diagnosis journey matters.

We don’t need to be perfect, we just need to be better.

 

 

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