Posted by Neil Rubenstein on July 19, 2013 · 6 Comments
Editor’s Note: In honor of Pediatric Safety’s 4 year bloggiversary, we are publishing 4 of our favorite posts from the past, one each Friday for the next four weeks. This is our 1st – originally posted in July of 2011. Our thanks to Neil for sharing his story with us!
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When I was asked to write a post about my son and the life-threatening birth defect he was diagnosed with at 37 weeks…I jumped at the opportunity. My son is a survivor but many are not, and I have been 
doing everything I can to help spread the word and try to increase awareness. The birth defect is called congenital diaphragmatic hernia (CDH). It’s definitely a mouthful but in layman’s terms, it means a hole in the diaphragm. I’ll get into more detail later, but even though the diaphragm is kind of a forgotten muscle (especially when the baby is still in the womb), suffice it to say that when there is a hole…the survival rate is only 50%.
The diaphragm’s main purpose when the baby is in the womb is to separate the abdominal organs from the chest organs. When there is a hole in the diaphragm, the abdominal organs can pass through that hole. At the very least, the extra organs in the chest cause the lungs to be underdeveloped (due to the extra organs taking up the space the lungs need to develop properly). However, when organs don’t develop in their proper location it can lead to all kinds of other issues such as heart defects, chromosomal abnormalities, premature labor, etc.
We found out after 37 weeks of what we thought was a perfect pregnancy that our son’s stomach had passed through a hole in his diaphragm and caused his heart to be pushed to the wrong side of his chest.
As I mentioned earlier, CDH has a mortality rate of 50%. It occurs in 1600 babies per year in the US and is just as common as spina bifida and cystic fibrosis. However, there is very little research on the cause and there is no known cure other than treating the symptoms with surgery and/or medicine. So basically we went from what we thought was a picture perfect pregnancy to being told our son had only a 50% chance of survival due to some birth defect we had never even heard of. We were devastated! I can honestly say that Monday, 5/24/2010 was the worst day of our lives. We felt lost, alone, blindsided, and had no idea where to turn.
If there was any good news from the events of 5/24, it was that we had (hopefully) enough time to make arrangements to prepare for Baby R’s arrival. We wanted to make sure that we were comfortable with all the doctors that would be taking care of our son as it could mean life or death. In fact, the first surgeon assigned to us could not find the time to meet with us for at least a couple weeks. A couple weeks, I didn’t think we had. Since my wife’s fluid levels were elevated, there was a high likelihood that she could go into labor early which meant at any moment.
At this point, I started researching alternative hospitals and doctors. After visiting two hospitals in Chicago, we settled on staying in Chicago and having our son delivered at one hospital and transferred to Children’s Memorial after being stabilized. We were extremely pleased to learn that the head of pediatric surgery at Children’s Memorial Hospital in Chicago was extremely knowledgeable about CDH which calmed us down as much as possible That is to say…just a little bit.
Fast forward to June 17, we got to the hospital around 7:15 on 6/17/10 for the scheduled c-section. Things were going really well from the start. As always, Amy’s vitals were great and so were Baby R’s / Aidan’s. At around 10 am, Amy was brought to the OR to give her the spinal anesthesia, etc. I had to go to the adjoining recovery room until they were ready for me.
That was probably the longest 25 minutes of my life. I was in my scrubs, pacing back and forth just waiting for them to come get me. I had nowhere to go, was nervous for our son, and anxious for Amy.
I was finally brought into the OR to see Amy. There were 2-3 OB’s, 3 neonatologists, a couple anesthesiologists, and I think a couple other doctors there for support. The main OB (who happened to be the one who diagnosed the CDH in the first place) was great at giving us as much play by play as we wanted.
And then all of a sudden, we heard a little cry. I have never been so happy to hear a baby cry in my
life. Many CDH babies don’t have enough lung capacity to even cry at all. That fact that Aidan gave out a little cry was a great sign (we hoped), and Amy and I both let out a collective sigh of relief.
I could see Aidan struggling and catch a glimpse of a finger or toe periodically. The doctors said he looked great, great color, and the fact that he was fighting the doctors was another good sign. He wanted to breathe on his own. Finally they called me over to cut the cord, and I was able to get my first good look at him. He looked amazing…my face, Amy’s nose and hopefully someone else’s height…
I went into overdrive at this point to ensure Amy got a chance to see Aidan. I snapped a quick picture on my phone so Amy could at least see what he looked like. Then suddenly it was time to wheel him away to the NICU.
In route to Amy’s room, we stopped by the NICU, and we were able to spend 15-20 minutes with Aidan. He looked great but was fighting with the doctors big time. We found out that the transport service was already on the way.
Aidan was doing so well after being transported to Children’s Memorial, that the surgery to fix his hernia (the hole in his diaphragm) was scheduled for 6/21 (when he was 4 days old). Typically surgeons do not rush to fix the hernia through surgery. Current research has shown that it’s actually more beneficial in the long-run to stabilize the baby and allow him/her to get as strong as possible before doing surgery. This can mean days or months before some CDH babies are ready for surgery.
After 2.5 hours of surgery, the surgeon came out to the waiting room to talk to us. Her first words were, “he’s a miracle baby—with a great name”. She told us that the surgery went really well but that he was actually in much worse shape (before surgery) than everyone thought. Since he had been so stable since birth, everyone thought that his lungs would be in great shape and that only his stomach and some of his intestines would be in his chest (at the very worst).
The reality was that everything was in his chest…his stomach, small & large intestines, spleens (yes he has two), etc. Basically everything but his liver was in his chest. All those organs in his chest caused his left lung to be moderately underdeveloped and his right one to be slightly underdeveloped.
In addition, he had no diaphragm at all. This was all a shock to the surgeon since Aidan was basically stable from the minute he was born. His breathing, oxygen levels, blood pressure, etc. were so strong and stable that is was a bit of a surprise that he was actually in such bad shape technically. But his right lung was relatively well developed which obviously was able to compensate for the weak left one.
The doctor had to move his organs to their proper places and then make a new diaphragm using Gortex. It is very common for surgeons to patch the existing diaphragm but Aidan didn’t have enough muscle tissue to do that. The surgeon also had to create a new hernia or hole in his abdomen. This is sometimes done when there isn’t enough room for all the organs once they are moved back to their proper locations. Basically Aidan’s abdomen is not used to having so many organs in it, so they created a little extra room for his stomach to grow for the time being. He will need to have another surgery on 7/21/11 to close this hernia (and put his stomach back in its proper location), but it will be “minor” surgery compared to what Aidan has already been through.
Once Aidan was moved back to the NICU, we got to see the incision and see how he was doing. The incision was about 4-5 inches across his stomach area. But the neonatologist made a point to tell us that she rarely sees a baby come out of such major surgery and need so little oxygen. He was completely sedated (and was using a ventilator to help him breathe 100%) but his oxygen level was almost already back to normal. I got another update from Aidan’s nurse that evening. He was barely awake; however, he was already starting to breathe on his own in addition to the ventilator.
We had our ups and down post surgery. Aidan was extubated, weaned off all medications, etc. only be re-intubated less than 24 hours later and put back on all medicines (with methadone added to the mix). But in the end, Aidan came home after only 29 days in the NICU. We were pretty naïve to what other CDH families went through at the time, but I had a feeling that 29 days was a short time to be in the NICU. I now know that with such a severe defect, we were extremely lucky that Aidan was able to graduate from the NICU after such a short period of time (or even survive past the first day for that matter). Aidan was able to come home with basically no signs of CDH other than a large scar on his abdomen.
Aidan had no reflux (a very common side effect of CDH that can last for years) and no other chromosomal abnormalities or heart defects. He was basically a normal 1 month old. However, Aidan would still need to have a hearing test every 6 months for the next 5 years. His surgeon has seen some high frequency hearing loss in CDH babies up to the age of 5.
My wife and I went through a lot to educate ourselves on this defect that we had never heard of in order to prepare for our first born. But this entire ordeal has definitely made us stronger, and we appreciate life, love and our son more as a result.
In hindsight, I feel ignorance was actually bliss to a point. I am almost glad I didn’t know as much about CDH (before Aidan was born) as I do now. If I had been as informed, and realized that of the
1600 cases per year in the US only 50% of the children survive once diagnosed with a hole in their diaphragm and that children without a diaphragm at all are even less likely to survive…if I had realized that there was no known cause or cure and that very little research has been done to try to find the cause…if I had known that often CDH babies have to endure multiple surgeries throughout their lives (which sometimes are cut prematurely short), I think I might have actually been even more scared than I was. For a child with such a severe defect (no diaphragm at all), Aidan blew away the odds which was more than anyone could have every anticipated.
In the end, Aidan was 1 of 800 babies to survive in 2010 after being diagnosed with CDH – a defect virtually no one has ever heard of.
I knew everything about CDH as soon as my baby boy was diagnosed CDH baby after 3month of pregnancy… so many months looking on internet, calling all the doctors, going to paris at the CDH hospital, talking with cherub parents froma ll over the world, knowing allt he surgeries, all the difficulties for the babies … so many exams, IMR, amnio micro array, x-ray… so many nights without sleeping, crying, not knowing what will happen to our baby after his birth… I’m so touched when I read your story… My 1st little girl is the same age, born in 2010 like Aidan, my second baby had CDH, he was a wonderful baby boy called AMATO, we lost him after 7month of pregnancy because we “chose” termination which is legal at any moment in France. Such a hard choice for a mum and a dad… hope everyhting will go fine for your second CDH baby boy, all my positive thoughts from France
So sorry you had to deal with CDH twice as well. We now have a 5 1/2 month old that also has CDH. I am sorry I missed your comment.