Baby's Diagnosis and Next Steps

We’ve decided to start this blog to keep our family and friends updated on how our baby girl is doing. I’m not a doctor so I’ll just do my best with all of the medical stuff. Here’s an update on things up until this point:

About a month ago we had the standard ~20 week anatomy ultrasound to make sure baby was healthy. The next day, the doctor explained to me that the ultrasound showed that our baby had either a Congenital Diaphragmatic Hernia (CDH) or a Congenital Pulmonary Airway Malformation (CPAM) but that it was likely the CDH. A CDH is a hole in the diaphragm, which is the muscle below your lungs that separates your chest cavity from your abdominal cavity. This hole means that things that are down in the abdomen (stomach, bowels, etc.) can travel up into the chest and affect how the baby’s lungs develop. Survival rates and outcomes vary for these babies depending on how big the lungs are, how much is up in the chest cavity, and a whole lot of other factors and unknowns. With the current research, the cause of CDH is unknown.

We went in to see specialists at McMaster early the next week for a 2 hour ultrasound and meetings with genetic counsellors and a Maternal Fetal Medicine (MFM) OBGYN. The doctor confirmed that our baby has a CDH. Her CDH is on the left side and her stomach and bowel is up in the chest cavity. Her left lung is small and her heart is pushed to the right side of her chest. What we weren’t expecting is that there was also another mass in the left side of the chest which the doctors weren’t sure about. Our doctor recommended we do an amniocentesis the next day to see if there are any other genetic abnormalities with our baby.  Thankfully the results of the amnio have all come back normal! Our doctor also recommended an MRI to find out more about this mass and what exactly was going on with the CDH.

I had the MRI early last week and met with the doctor yesterday to go over the results. Sadly they weren’t what we were hoping for. The MRI shows that part of the baby’s liver is also up in the chest cavity (along with the stomach and bowel). The “liver up” diagnosis is not a good sign in the research in terms of baby’s chances. We also found out that the baby has a CPAM as well which further complicates things. Our doctor said he has seen too many CDH’s too count (although it’s not that common – ~ 1 in 2500 births in the US), but that he’s never in his career seen a baby with a CDH and a CPAM. With everything the MRI shows, he is less hopeful for our baby.

Our next steps are meeting with more specialists at Mount Sinai in Toronto about the potential of a surgery that happens before the baby is born, a fetal echocardiogram, ongoing ultrasounds and check-ups at McMaster and meeting with the pediatric surgery and neonatology teams there.

We still have hope and more importantly, we know that our God is good and he is in control of everything that is happening. We are so thankful for the support from our friends and family we’ve already received.

“For you formed my inward parts; you knitted me together in my mother's womb. I praise you, for I am fearfully and wonderfully made. Wonderful are your works; my soul knows it very well. My frame was not hidden from you, when I was being made in secret, intricately woven in the depths of the earth. Your eyes saw my unformed substance; in your book were written, every one of them, the days that were formed for me, when as yet there was none of them." Psalm 139: 13-16