Deciding How To Move Forward

We were scheduled to meet with Dr. Ball again in 2 weeks.

As each day and went by, we spent a lot of time praying, talking, hoping, and crying. Knowing that the life of your unborn child is in danger tends to help put a lot of things into perspective for you. But at the same time, it rips and tears at your very soul. Especially when the outlook is not at all very good.

All the things you imagine doing with your child – playing and laughing and watching him grow and learn – have a real possibility of not occurring. Not going to the park, not playing catch, not cheering him on as he wins the state championship, not…well I’m sure you get the picture.

One night I decided to have a talk with my unborn son. And while I was addressing him, I was also talking to myself and to my wife. I don’t remember exactly what I said, but it went something like this:

“Son, I don’t know how much you’re aware of what’s been going on, but you’re not doing so well. The doctors tell us that you’re pretty sick. Quite sick actually. Sick enough to put you life in danger.

“As you body was developing, for some reason it just decided to skip the part that tells it to completely make your diaphragm. As a result, you have a hole there. The hole has allowed your stomach, liver, and intestines to move up into your chest.

“You likely don’t notice it now. It shouldn’t cause you any pain. It won’t affect how you grow over the next couple of months. But when you’re born, it can cause a lot of problems then. It’s not your fault. It’s not my fault. It’s not your mom’s fault. It’s no one’s fault. It’s just the nature of the world that we live in.

“Son, don’t think that because you’re sick that we love you any less. We pray for you every night and every morning and many, many times throughout the day. We pray that Heavenly Father will grant us the opportunity to raise you and pray that we will be the type of parents that you will need to teach you how to be a good and righteous person.

“We will do everything we can do for you, Son, and have faith in the rest.”

After a few minutes to recompose ourselves, we spoke verbally for the first time many thoughts and feelings that we had each had in our hearts and minds, but were to afraid to say out loud. Mostly, how were we going to proceed from here?

We decided that we HAD TO go forward believing that our baby boy was going to survive. It was necessary for our faith, well-being, and sanity to go forward believing and hoping that things were going to work out the way we were hoping and praying that they would, even though we knew that there was a very real possibility that they might not.

A Father's Prayer

Since we found out that our baby was sick, we had prayed A LOT that he would be allowed to live and that we would be allowed to raise him and play with him and watch him grow and learn. We mentioned it every time we prayed. Morning and night. Over dinner. Every day. Both together and separately.

Not long after our first meeting with Dr. Ball, I remember kneeling at the bedside one night and pouring out my heart to Heavenly Father on behalf of my unborn son. During that prayer, something marvelous happened. In my heart, I knew that God was aware of my unborn son in a very real and a very personal way. I knew that He loved my baby just as much as he loved me and just as much as he loved my wife. I wasn't made aware of the final outcome, but I knew that we weren't going to be alone during the process.

Heading Into The Unknown

Following our first appointment with Dr. Ball, we had a better understanding of our situation, but there was still a lot of unknown as well.

We knew that our son was on the worse end of the spectrum. He had liver up (bad) and an LHR of about 0.6 (very, very bad).

How do you process that information?

We'd have 2 weeks to figure it out before our next appointment with Dr. Ball.

Just How Faulty Are The Blueprints?

After taking the measurements for the LHR, Dr. Ball, he also informed us about the increased likelihood for additional complications if there were any additional anomalies or abnormalities.

Imagine if you will, blueprints for a house. They give a carpenter details on what a house should look like. They are usually many pages and give floor by floor and room by room instructions on how to build that house.

DNA works in much the same way. When a child is conceived, the DNA from the dad and the DNA from the mom combine to form a physical blue print for how that child’s body should develop.

Imagine next, the carpenter skips building part of the inside of the house because he either missed or misread a page of the blueprints.

This is basically what happened in our son's case. For some reason, his body skipped or misread the part of his DNA that told it to completely form his diaphragm.

Now you can see that if the carpenter missed or misread a part of the blueprints, it becomes likely that other parts may have been missed or misread as well.

So it is with congenital diaphragmatic hernias. While the majority of CDH are isolated (meaning no additional problems), there are a large number of instances of additional birth defects and/or chromosomal abnormalities occurring in fetuses with CDH as well.

As such, Dr. Ball recommended an amniocentesis to check for any chromosomal abnormalities. We consented.

Dr. Ball told us that we would have the results back in two weeks, the same day of our next appointment.

Lung to Head Ratio

Our first meeting with Dr. Ball was very similar to our appointment with Dr. Herbst. He performed another ultrasound (this would be the routine for the summer). He confirmed the severity of the hernia and took some measurements of our baby's head and lungs, introducing us to a measurement called Lung to Head Ratio (LHR).

Lung to Head Ratio

To measure the lung-to-head ratio one measures the length and width of the right lung and multiplies it. This gives the right lung area. Then, you divide the value of right lung area by the value of the head perimeter.

For example (as seen in the diagram):

• Right lung measures: 21 mm x 10 mm = 210 mm2 (forget the units of measurement at this point)

• Head perimeter measures: 200 mm

• Lung to head ratio: 210/200 = 1.05

Our Son's LHR

Our son's LHR was 0.6, considerably less than 1.0. So what does that mean?

Meeting Dr. Ball

We met with Dr. Ball a couple of weeks after our initial appointment with Dr. Herbst. At first look, Dr. Ball was not at all what I was expecting. I guess I had pictured in my head that the “leading expert” would be some wise, old, gray-haired man of a doctor and not some “young hippie.”

Well it turns out that first impressions don’t amount to much. Dr. Ball was very friendly, super knowledgeable, and (as you’ll see later) one of the most amazing doctors ever.

I’ve included his bio from the Maternal Fetal Services of Utah website:

“Dr. Ball received his medical degree from Cambridge and Oxford University in England. He completed his residency training in Obstetrics and Gynecology at Vanderbilt University in Nashville, Tennessee. Fellowship training in Maternal-Fetal Medicine and Ultrasound at the University of California, San Francisco, followed. Dr. Ball then worked at Washington University in St. Louis, followed at the University of Utah/Intermountain Healthcare where he was the Director of the OB Diagnostic and Treatment Center. He then returned to the University of California, San Francisco, to work as the maternal-fetal medicine specialist with the UCSF Fetal Treatment Center, the birth place of Fetal Surgery.

“Dr. Ball is now the Director of the Fetal Therapy Initiative for HCA and remains an Associate Clinical Professor at UCSF.

“Dr. Ball is Board Certified in Obstetrics and Gynecology and Maternal-Fetal Medicine by the American Board of Obstetrics and Gynecology.”

CDH Severities

In order to determine the severity of a fetus's condition it is important to gather information from a variety of tests and determine if there are any additional problems. These tests along with expert guidance are important for you to make the best decision about the proper treatment.

This includes:

1. The type of defect—distinguishing it from other similar appearing problems.

2. The severity of the defect—is your fetus’s defect mild or severe.

3. Associated defects—is there another problem or a cluster of problems (syndrome).

Amniocentesis may be necessary for chromosome testing. Sonography is the best imaging tool, but is dependent on the experience and expertise of the operator. Magnetic resonance imaging (MRI) may be necessary in some cases. Many problems are first detected during routine screening procedures performed in your doctor’s office (amniocentesis, maternal serum screening, routine sonography). However a through assessment usually requires a tertiary perinatal/neonatal center with experience managing complex and rare fetal problems.

Fortunately, it is possible to now predict before birth how good or bad your fetus’s CDH is. Careful and accurate prenatal assessment [level II sonogram, echocardiogram, sometimes magnetic resonance imaging (MRI) is critical for your decision-making and planning. One of the most important issues is to make sure there are no other birth defects (like heart problems) that will affect outcome.

Major Factors in Determining Severity

When CDH is the only problem, we have learned that severity and, thus, outcome is determined by two factors: 1) liver position, and 2) lung-to-head ratio or LHR. Liver position refers to whether or not any portion of the liver has herniated, or gone up into the chest of the fetus. Fetuses with the liver up in the chest have a more severe form of CDH and a low survival rate. About 75% of all CDH patients have some portion of the liver herniated into the chest. The lung-to-head ratio, or LHR, is a numeric estimate of the size of the fetal lungs, based on measurement of the amount of visible lung. High LHR values are associated with a good outcome.

Fetuses on the best end of the spectrum do not have liver herniated into the chest (liver down) and have a high lung-to-head ratio LHR greater than 1.4, indicating a relatively large lung. Through experience in evaluating many hundreds of CDH patients, about 25% are on the best end of the spectrum (liver down and/or high LHR greater than 1.4), and they all do well after birth. It is recommend that these babies be delivered normally near term in a center with a very good intensive care nursery and good pediatric surgery.

Fetuses with liver herniated into the chest and a lung-head ratio less than 1.0 are on the worst end of the spectrum. It can be sure that they will have a very difficult time after birth. Most can be helped with very high level intensive care, including ECMO. However, the very intensive care required for the most severe cases can lead to complications and long-term problems, including breathing and feeding difficulties for many years. In our experience, about 25% of fetuses have this severe form of CDH, and about 70% of these survive with very intensive management, but often with some handicap.

About half of all fetuses with CDH are neither very good nor very bad, but are somewhere in the middle of this spectrum. With good intensive care and surgery at an experienced medical center, most (more than 90%) will survive and do quite well.

What is the outcome for a fetus with CDH?

There is a wide range of severity and outcomes for CDH. In the best cases, some infants do very well with routine treatment after birth. In the worst cases, some will not survive no matter how hard we try. And in the middle, some will live normally while others will have a difficult time and have to deal with some handicaps ranging from mild learning problems to breathing and growth problems. How the baby does after birth is determined by how well the lung grows before birth.

Fetuses on the best end of the spectrum have an excellent chance to lead a perfectly normal life. They do not require special prenatal management in terms of the timing or type of delivery, but should be delivered in a perinatal center with a Level III intensive care nursery with good neonatal and pediatric surgery support. The place of delivery is very important because transporting these babies after birth can be dangerous for the infant. Many babies still have to have the defect repaired after birth and will be in the intensive care nursery for several weeks. Even though the lung isn’t of normal size at birth, it has the capacity to grow and adapt for many years, so these kids will lead normal active lives without restriction.

On the other end of the spectrum, babies with severe CDH and very small lungs are guaranteed to have a difficult struggle after birth, and some will not survive. These babies require very skilled intensive care to stay alive—things like high-frequency or oscillatory ventilation, inhaled nitric oxide and, in some cases, extracorporeal membrane oxygenation (ECMO). ECMO provides temporary support for lung failure by circulating the baby’s blood through a heart-lung type machine. It can be life-saving, but can be used for only limited time before complications become excessive.

These babies must be delivered in a very experienced tertiary perinatal center with ECMO capability. The surgery to repair diaphragmatic hernia after birth is not an extreme emergency and is usually performed when the baby has stabilized in the first week of life. After repair, these babies will need intensive support for many weeks or even months. Even when the CDH is severe, greater than 70% of affected babies can be saved with intensive support. However, there will be long term health issues related to breathing, feeding, growth and development problems.

Most fetuses with CDH fall between these extremes of severity.

What is a Congenital Diaphragmatic Hernia?

The wide, flat muscle that separates the chest and abdominal cavities is called the diaphragm. The diaphragm forms when a fetus is at 8 weeks’ gestation. When it does not form completely, a defect, called a congenital diaphragmatic hernia (CDH), is created. This is a hole in the muscle between the chest and the abdomen.

The majority of CDHs occur on the left side. The hole allows the contents of the abdomen (stomach, intestine, liver, spleen, and kidneys) to go up into the fetal chest. The herniation of these abdominal organs into the chest occupies that space and prevents the lungs from growing to normal size. The growth of both lungs can be affected. This is called pulmonary hypoplasia.

While in the uterus, a fetus does not need its lungs to breathe, because the placenta performs this function. However, if the lungs are too small after the baby is born, the baby will not be able to provide itself with enough oxygen to survive.

The depiction above is of a SEVERE CDH.

Meeting with the Specialist

The doctor’s office helped us set up an appointment with a perinatologist, a maternal-fetal medicine specialist that deals specifically with the care of the mother and fetus at higher-than-normal risk for complications.

The appointment with the perinatologist was scheduled for the following week. It was a loooong week--full of anxiety, fear, and the emptiness of the unknown.

The following Wednesday (May 9, 2007) we met with Dr. Melissa Herbst, a perinatologist from St. Marks Hospital in Salt Lake City at Timpanogos Regional Hospital in Orem, Utah. The appointment consisted of an ultrasound – a really, really long ultrasound! Dr. Herbst spent a considerable amount of time with the sonogram, viewing as much of our baby’s anatomy as she could.

As she looked at the various sonograms, she informed us that about 1 in every 2,500 babies in the United States is diagnosed with CDH. The severity of CDH varies depending on how much of the contents of the abdomen have migrated into the chest cavity.

Her verdict on our baby? SEVERE.

His stomach, intestines, and part of his liver were in his chest. Because of the severity of the case, Dr. Herbst elected to refer us to one of her colleagues, Dr. Robert Ball, a leading specialist in maternal-fetal medicine and Fetal Therapy Initiatives.

THE BEGINNING....When we found out our baby was sick.

We’ve been debating how best to introduce our blog. We feel that it’s important for everyone tounderstand the past, so that you can better understand the present.

The dilemma that we come across, though, is how much of the past do we explain. Well, we think we’ve come up with something that will work, so here goes.

We figure the best place to start is the day that we found out that Nathan was going to be sick:

On May 1, 2007, Bekah was scheduled for her monthly OB visit and the 20-week ultrasound. As I’m sure many of you can attest to, when it’s your first child, you mostly just want to know if you’re having a boy or a girl. That’s the BIG DEAL of the ultrasound…or so we thought!

After learning that our life would be blessed with a little boy, the sonographer (in the kindest way she knew how) informed us that according to what she was seeing on the ultrasound, some of the baby's organs were appearing to be out of place.

What does that mean? How do you respond to that? Why do I suddenly feel empty?

The sonographer then informed us that the doctor would explain more to us in just a few minutes. As we were being escorted from the ultrasound room to the doctor’s office, the sonographer quietly, but sincerely, said “I’m sorry.”

We sat anxiously, nervously, and emotionally in the doctor’s office, holding each others’ hands for support. The few minutes we waited seemed like forever until the doctor finally came in.

So what’s going on? How sick is our baby? What do we do now? And a thousand other thoughts run through your head. You want to ask them all, but you don’t know where to start. You want to focus on every word the doctor is going to say, but your head is so full and swimming that it’s hard to focus on anything.

The doctor informed us that our son had what is called a Congenital Diaphragmatic Hernia (CDH). However, due to the restrictions of their ultrasound equipment, they were unable to determine the severity of the hernia. The severity of the CDH would go a long way in determining the odds of our son’s surviving at birth.

WHACK! Punch in the head. Kick in the stomach. A little of both.

In less than 30 minutes, the joy of finding out that we were going to have a son was dashed with the news that our little boy was going to be sick. Just how sick, we didn’t know yet. But when we woke up that morning the farthest thing from either of our minds was our son’s mortality. And now here it was trying to beat down our door. And there was no where to hide.

So what happens next?