Here is the rundown of what's been going on in our lives since our CDH diagnosis...
10.29.07 - This morning we had our ultrasound at 19 5/7 weeks. All was going well and we were having fun being able to see such clear images of our baby until the sonographer focused on the chest for a LONG time. I'm not certified in ultrasonography, but it was clear that there was a large organ next to the heart and it was not lung tissue. She left the room to get our OB Doctor (Dr. W.), who confirmed that what we were seeing was the stomach in the chest cavity. We were then referred to a perinatologist for further evaluation, who Dr. W. was trying to get us in to see that same day. We left our appointment and went home to wait for a call from the perinatologist. All day we just sat and stared and waited. We were completely in shock. As it turned out, we weren't able to get in that day, or the next, but had an appointment first thing Wednesday morning.
10.31.07 - 20 weeks today! Today was our first appointment with the perinatologist. My Mom drove up last night for moral support and came along for the appointment to help relay info to my Dad and be an extra set of ears for us. The perinate confirmed our diagnosis by ultrasound, the baby has left-sided CDH (LCDH) also sometimes known as a Bochdalek hernia, which makes up 80-90% of all CDH cases. The stomach and some of the intestines are in the chest cavity, causing the heart to be displaced to the right side of the chest. This is called a mediastinal shift. It was unclear if the liver was in the chest or not. Cases where the liver is also in the chest have a decreased chance of survival than ones that do not. Our baby has been given about 50-60% chance of survival.
We did get a bit of good news. The baby has a healthy brain, 2 kidneys, and the heart appears to be normal too. A defect with the heart, brain, or kidneys sometimes suggests an associated chromosomal abnormality, which could be confirmed through chromosomal testing. We opted to have an amniocentesis as well. This is done by inserting a long needle through the abdomen and into the uterus to draw out a sample (10-20cc) of amniotic fluid for chromosomal testing. (Not nearly as painful as it sounds.) I was afraid Kenny might pass out for this, but he was right next to me watching the whole thing!
We then met with the genetic counselor to review our family medical histories, both of which are unremarkable. As of now, no one knows the cause of isolated CDH, meaning individuals that have CDH but appear to have no other chromosomal abnormalities or malformations. It's believed that the cause of isolated CDH is multifactorial, meaning it may be caused by multiple genetic and environmental factors. The genetic counselor told us we could expect preliminary results from the amniocentesis, also called FISH test results in 1-2 days and full results in about 2 weeks. The FISH test looks specifically at chromosomes 13, 18, 21, X, and Y. Abnormalities of these five chromosomes account for nearly 95% of all chromosomal abnormalities.
11.2.07 - Today we met with Dr. W. for our regularly scheduled OB appointment. Our FISH test results were normal! This was definitely good news, since CDH has a high association with other genetic/chromosomal abnormalities and syndromes. Full amnio results should be back in about 2 weeks. This was a very hard week for us, because Dr. W. also discussed with us, as did the perinatologist, the possibility of terminating the pregnancy. Since CDH has such high mortality and morbidity rates, around 20% of patients opt not to continue the pregnancy. This was a horrible decision to have to face when considering all our baby will have to face after birth and the months/years to follow, but we decided to continue with the hope that our baby will be a survivor.
Prior to our CDH diagnosis, we had planned to deliver at the hospital where I work, which has a Level II NICU. But since the baby has greater needs than a normal, routine delivery usually does, we will need to deliver at a Level III facility. Occasionally, Level III NICU's have ECMO machines, but this isn't the case for any of the hospitals in our area. The only Level IV facility (which has ECMO) is Children's Mercy Hospital, which doesn't care for adults - including labor/delivery. This means a transfer will be necessary. Transferring a seriously ill baby is always something that you try to avoid, since it's very dangerous for the baby. But since we have no other local options, we chose to deliver at a Level III and transfer the baby to Children's Mercy as soon as he or she is stabilized after birth. This usually takes place within the first few hours after delivery. We chose Overland Park Regional Medical Center for our delivery. This hospital has been considered the "sister" hospital to the one where I work. We share some staff members, including the Neonatologists and some Neonatal Nurse Practitioners. So it gives me great comfort that people who know us will be the ones caring for our baby. Also, a nurse I work with, who also has worked at Overland Park (OP), has so graciously volunteered to be my personal labor nurse!! I'm sure this will bring me great comfort during what will be such a nervous time for Kenny and I. I'm very grateful for the support people have shown us and their willingness to help or just to say they're thinking of us.
Delivering at OP brings us to another change in plans. Our OB Dr. doesn't do deliveries at OP, so we will have to find a new one who does. I love Dr. W. and will miss her greatly. She is a very talented physician and also a great person and friend. And it is thanks to the great care that she provided us, that we learned of our CDH diagnosis early in the pregnancy, rather than have a horrible surprise at delivery that no one is prepared for!!
11.5.07 - Today we met with one of the neonatologists in the group that will be caring for our baby at the delivery and for a short time afterward until the transfer to Children's Mercy. Dr. S. is one of the neonatologists that practices at my hospital, so I had met her on several occasions before. She is a great Dr. and also a very caring person. She took a great deal of time explaining to Kenny and I what to expect with CDH.
The primary problem with CDH babies is that because there are organs in the chest that aren't supposed to be there, the lungs aren't able to develop adequately. How much and how well the lungs develop will determine if the baby survives after birth. Unfortunately there is not currently a very accurate way to determine how well the lungs are developing in utero in a way that accurately predicts the baby's chance of survival. This is definitely the hardest part of waiting because you just don't know until the baby is born if the lungs will be able to supply enough oxygen to the body to survive. With cases that present like ours, with the heart shifted to the right, the right lung is usually the primary lung that develops. How big it is able to grow depends on how much room it has around it between the heart and the chest wall. The left lung often is severely restricted in growth because it is compressed by the herniated organs, and may only be a lung bud. However, as long as there is enough lung to sustain life initially, the lungs can continue to develop until around 6-7 years of age.
Dr. S. explained what we could expect to happen at delivery and shortly afterward. There will be a large team from the NICU at the delivery to care for the baby. From other parents' experiences this team is usually anywhere from 10-20 doctors, neonatal nurse practitioners, nurses and respiratory therapists. The baby will immediately be intubated allowing oxygen to be delivered directly into the lungs. The baby probably will not be able to cry when it is born. Also a tube will be placed into the stomach to keep air from accumulating in the stomach and intestines. If they were to fill with air, this would keep the lungs from expanding even more. Medications to help with breathing will be given and the baby will be taken to the NICU to be placed on a ventilator and have IV's started. More detailed info with great pictures and explanations about what to expect can be found under the CDH Links section on the left. Go to "What to Expect After Delivery."
After the baby is considered stable enough to be transferred, a transport team will place the baby in an isolette with all the monitors, lines and equipment attached. The isolette becomes a mobile NICU bed for the baby to travel in the ambulance. They will bring the baby to our room so we can see him or her for a few minutes, and then they will travel to Children's Mercy. Kenny will be able to follow behind the ambulance and should be able to see the baby fairly soon once they arrive at Children's. Babies that are seriously ill need to be in a dark, quiet, calm environment, so visitors will likely be limited at this point.
While at the neonatologist's office, we also met with a social worker from OP. She gave us a quick tour of the birthing unit and NICU at OP. While at OP and also at Children's Mercy, we will be assigned a social worker to help us with a variety of things.
11.13.07 - Today we had our second appointment with the perinatologist. They will be seeing us monthly for ultrasounds to monitor the baby's well-being, growth, and level of amniotic fluid. CDH babies frequently have portions of the bowel that have herniated into the chest, just as our baby does. This sometimes causes too much amniotic fluid to accumulate around the baby in the uterus, also called polyhydramnios, which could cause preterm labor and other complications. The measure of amniotic fluid is called the Amniotic Fluid Index (AFI). They expect it to be roughly between 10-20. Levels above 22-25 would cause concern. Today our AFI was 13.25, so very good. The baby also weighs about 1 lb now and is still in the breech position. Anatomy in the chest basically looks the same with stomach and bowel herniated, and heart shifted to the right. Still waiting on the full amnio results. The bad news today is that it appears part of the liver is also present in the chest.
11.14.07 - Full amniocentesis results came back all normal!!
11.30.07 - 24 2/7 weeks. Today we had our first appointment with our new OB Dr. Dr. E. came highly recommended to me from the nurses I know that work with her at OP. She will be consulting with the perinatologists about our plan of care throughout the pregnancy. Basically all we can do is monitor the baby closely and stay pregnant as long as possible. Babies with CDH born before 37 weeks typically do very poorly compared with babies born closer to full term at 40 weeks. Because lung development is our primary issue, being born early would only add to that problem.
Also, we will plan for a natural delivery, rather than a c-section. The stress of labor is good for babies and stimulates lung function. Also the mechanics involved in a natural delivery would benefit the baby's lungs by helping to squeeze out excess amniotic fluid.
12.3.07 - Today we had our meeting at Children's Mercy with the neonatology/surgical team. They met with us for a little over 2 hours to give us some idea of what to expect after transfer, for surgery and the plan of care to follow. We had lots of questions, and they took the time to answer everything we could possibly ask in detail. The answers they gave us coincided with all the research that we had done, and we really feel like our baby will get great care at Children's Mercy. They really made us a priority while we were there and we were very impressed with them. They see about 18 cases of CDH per year of varying severity. Of the more severe cases that present similar to ours, they see about 2-3 per year.
They told us that based on what we've seen so far on ultrasound, we should expect that our baby may need ECMO, which is heart/lung bypass. Any baby that goes on ECMO has a 50% chance of survival. There are a lot of complications associated with ECMO, and we hope to avoid it if all possible. However, ECMO has saved babies that otherwise may not have survived, so as a last resort it can certainly be life saving. If the baby doesn't need ECMO, the optimal time for the hernia repair surgery is after the baby is stable, possibly 3-4 days after birth. If the baby does need ECMO, they usually stay on it for 2-3 weeks. The surgeons prefer not to attempt the repair surgery while the baby is on ECMO, because it is too dangerous, but will do it if they have to.
The repair surgery involves removing the herniated organs from the chest and then placing them into the abdomen where they belong. If the part of the diaphragm that is missing is small, say like the size of a golf ball, they may be able to sew the hole closed. This is the best case scenario. If a larger part is missing, they will have to use a synthetic patch to close the hole. Using a patch increases the risk later that the baby may reherniate through the patch and have to have additional surgery to repair the reherniation. Also, since the patch isn't real tissue, it will not grow as the baby grows, so it will likely need to be replaced at some point, hopefully not more than once, but every case is different. Sometimes the abdomen isn't large enough to hold all the organs, since it's basically been empty up until this point. If that is the case, they have to leave the abdomen open for some time to allow it to stretch and accommodate everything, then they would perform another surgery later to close it. Once the diaphragm has been closed or patched and the abdominal organs put into the proper place, the heart will slowly shift on its own back to the middle of the chest and the lungs will finally have the room they need to expand and continue to grow a little.
After we get past all that, the next big issue is feeding. CDH babies typically have serious long term problems with feeding and growth. Since the bowel has been malrotated during development and manipulated so much during surgery, it will be a while before the baby is able to take any nutrition by mouth and digest it. From birth until the intestines are working, the baby will be fed through IV's by TPN (Total Parenteral Nutrition). Once the baby is able to digest food, a feeding tube will be placed either through the mouth (OG) or nose (NG) that goes directly into the stomach. Feeding and growth will be something we work on for a long time, and the baby will most likely go home with a feeding tube in place. We were told to expect that the baby may possibly be able to go home around the time he or she is 3 months old, but this can vary a lot depending on how the baby is progressing.
The baby may also go home with some oxygen that is given through the nose by a nasal cannula, a monitor, and some medications. For this reason, we will not be able to use daycare and are currently trying to work out our schedules so we can continue working and also be able to stay home with the baby. We both need to work full time and continue to carry our insurance to pay all the medical bills that we'll have. I am hoping to work on the weekends, so I can be home with the baby during the week. But as of now, I'm not sure that will work out.
After our meeting, we were given a tour of the NICU at Children's by one of the Neonatal Nurse Practitioners. She showed us the special ECMO room where ECMO babies are cared for. They can have 2 babies in there at a time if they need to, but usually have just one. The operating room is attached to the ECMO room, so the baby won't even have to leave the unit for surgery. We also got to see a CDH baby that was getting ready to go home. She was about 3 months old and had a very severe diaphragmatic hernia. They thought several times that she would not survive, but she did and appears to be doing well and is going home. That was good for us to see, but also very emotional, as it's hard to see these very sick babies and know that ours is going to be there too.
12.11.07 - 25 6/7 weeks. Today we had another appointment with the perinatologist. The baby has turned and is now in the vertex position (head down), so that is good. The baby is measuring 2 lbs. and is about 1 week large for the gestational age. This is good because the bigger the baby is at birth, the better, because surgery is easier on big babies than on small ones. Our AFI was also good at 13.61 today. It wasn't clear if the liver was up or down today, but the best news of all was that we saw the right lung! Up until this point, we hadn't seen any lung tissue, so this was big news. It looked to be a little bigger than the size of the heart, and we found this to be very encouraging. So overall, we had a great appointment today.
12.21.07 - 27 2/7 weeks. We had another appointment with Dr. E. today. I had my 1 hour glucose tolerance test, where they give you a really nasty, sugary drink to drink in 5 minutes. Then they wait an hour and draw your blood to see what your blood sugar is. They said the results should be back in about a week or less. This is the initial screening for gestational diabetes. I have been a little nervous for this because my fasting blood sugars run a little on the high side of normal, diabetes runs in my family, and my mom was gestational diabetic when she was pregnant with me. Although I'm not really at a higher risk because of those things, I was still nervous for the test. Gestational diabetes is a concern in pregnancy for several reasons, but the most important one to us is that it negatively affects lung development. And while a baby of a gestational diabetic mother may be born at full term and be very large, it may have underdeveloped lungs. It our case, this is NOT something we need stacked against us even more.
12.26.07 - Dr. E.'s office called today to tell me that I failed my 1 hour glucose test. The blood sugar level is supposed to be under 130 and mine was 154. What a Christmas bummer. No sweets for me just in case!! I will need to have a follow up test done to determine whether I have gestational diabetes or not.
12.28.07 - Today was my 3 hour glucose test. I had to fast for at least 8 hours before coming in, so I hadn't eaten anything since 9pm the night before and my test started at 8:45am. First they draw your blood to check your fasting sugar level. Then I got another nasty sweet drink to gulp down in 5 minutes. After that you wait in the lobby for an hour, they draw your blood, you wait another hour, they draw your blood, you wait another hour, then they draw your blood again and you are done! I finished at 12:00, 3 hours and 4 blood draws later, and went straight to the nearest restaurant.
12.31.07 - Happy New Year! My 3 hour glucose test came back normal!!
1.10.08 - 30 1/7 weeks. We had another appointment with the perinatologist today. They estimated the baby's weight at 2 1/2 lbs., but said this was probably an underestimate due to the way the baby is laying today. They suspect the baby is actually closer to 3 lbs., which is right on track for the gestational age. The head is measuring at 30 weeks and the abdomen is measuring at 28 weeks. Since the abdomen doesn't contain the usual organs that have migrated to the chest instead, this is not surprising.
The Dr. also checked an S/D ratio today, which is a measure of the blood pressure in the umbilical cord. It tells how well the placenta is perfusing with blood and how well the blood/oxygen/nutrients are being delivered to the baby. An elevated S/D ratio can be associated with several things, including polyhydramnios and low birth weight infants. The S/D ratio was normal at 2.4. Normal levels are usually considered to be less than 4.0 at 20 weeks, less than 3.0 at 30 weeks, and less than 2.0 at full term.
We also had a Biophysical Profile test (BPP). This measures the baby's well-being by checking 4 things: the baby's breathing movements, muscle tone, body movements, and level of amniotic fluid. Each of the 4 areas scores either 2 for passing or 0 for failing. 8/8 is normal, 6/8 means we need to repeat the test in 12-24 hours. A score of 4 or less means the baby is having problems and further testing is needed. We will be having BPPs regularly in addition to Non Stress Tests (NSTs) until the baby is born. Today the baby scored 8/8 on the BPP and the AFI was still normal at 13.4. But the biggest news of all was that we saw the LEFT lung today!! It was almost at big as the heart, so more than just a lung bud, and it was showing breathing movements. This was great news!!
1.14.08 - We had another appointment with Dr. E. today. Everything was still right on track. We discussed the option of doing either weekly BPPs by ultrasound or biweekly NSTs instead. An NST is done my placing an external fetal monitor on me to monitor the baby's heart rate and any contractions I may be having. She said that I could do biweekly NSTs while I'm at work, which would be great, so we won't have quite so many Dr.'s appointments to drive to. We will still have BPPs when we see the perinatologist.
1.16.08 - 31 weeks today! I had my first NST at work today. The baby passed with flying colors. What an overachiever! We will do NSTs twice a week until delivery, and I should be able to do most of them at work, which helps a lot. It was definitely weird being a patient instead of the nurse though. It's hard not to watch the monitor and just be a good little patient ;-)
1.25.08 - 32 2/7 weeks. Today we had our OB appointment. We are going every 2 weeks now, instead of once a month. We saw a midwife in the group today, because Dr. E. is on a medical mission trip in Africa for a couple of weeks. Everything is still going well.
...Wow, I know that was a lot of information, but now everyone should be caught up. I didn't realize how much had happened since the end of October, or I would have started this earlier. Our next OB appointment is scheduled for Monday, Feb. 11th. We'll see the perinatologist again on Feb. 12th. I'll post when anything new comes up. If anyone has questions, please don't be afraid to ask!! You can either post a comment on the blog, or if you'd rather ask us privately, email me directly at firstname.lastname@example.org
1 day ago