About 55 of them will have “isolated CDH” meaning no other malformations (aka “birth defects”) or chromosome abnormalities are present.
About 38 of them will have other birth defects beyond CDH.
About 7 of them will have chromosome abnormalities like Edward’s Syndrome, Patau Syndrome, or Down Syndrome.
One of the more prominent and well-known theories on how at least *some* cases of CDH develop is Vitamin A deficiency. [2] This might mean a low dietary intake of vitamin A, OR it could mean a specific gene is *messing up* the vitamin A pathway and the amount which your body (and therefor your baby’s body) absorbs.
We know that nitrofen, an herbicide that disrupts the Retinoic Acid (RA) pathway a.k.a. the vitamin A pathway. When nitrofen was administered to a pregnant rat, it resulted in CDH in a majority of the offspring. [3]
One study showed that lambs with CDH given extra vitamin A while in the womb developed significantly more alveoli in their lungs than lambs with CDH that were not given extra vitamin A. [4] Alveoli are an incredibly important part of healthy lung development. During the process of breathing, the alveoli take up the oxygen you breathe in to keep your blood oxygenated so it can deliver oxygen to your internal organs. Although I haven’t seen specific studies, my educated guess would be that better alveoli development = much better outcomes for CDH babies.
The vitamin A connection doesn’t apply if CDH is because of a chromosomal issue, at least as far as we know. We also don’t know if any other vitamin deficiencies may be involved, although the vitamin A connection is strong.
We also know that too much vitamin A can be incredibly harmful to a growing fetus as well, and result in numerous birth defects.
The vitamin A recommendation for pregnant women is 800 microgram/mcg retinol activity equivalents (RAE) per day, with a limit of 3,000 mcg RAE [5], with 1300 mcg being the “sweet spot” that means exactly 100% of your daily value on most pre-natal vitamin labels. This would be important to take for the few months leading up to pregnancy as well as during pregnancy.
As a general rule, fruits and vegetables that are red, orange, or yellow have vitamin A. Keep this in mind while supplementing, although you do have some wiggle room to not exceed 3,000 mcg per day! If you’re pregnant or lactating, one small orange has 5% of your daily value of vitamin A.
Oranges are rich in Vitamin A, the nutrient important for CDH prevention and lung development (according to studies)
Joint FAO/WHO Expert Consultation on Human Vitamin and Mineral Requirements. Vitamin and Mineral Requirements in Human Nutrition. 2nd ed. Geneva: World Health Organization and Food and Agriculture Organization of the United Nations. 2005. Google Scholar
The starting line appeared when I was 20 weeks and 1 day pregnant. I’d been anticipating my “anatomy” ultrasound scan for weeks… knowing that I would get to see my baby’s formed face, her arms and legs moving, and the little wiggles that I couldn’t physically feel yet. I was so thrilled for all of it.
I laid on my back while my ultrasound tech did my scan.
I kept waiting for him to turn the screen towards me so he could show me her little wiggly self. I was waiting to hear she’s ridiculously cute and because I don’t drink coffee or alcohol and because I eat organic kale and meat and exercise everyday she looks incredibly beaming and healthy, all her measurements are just beautiful, and I’d probably have the easiest labor on record because of just how perfect she was.
None of that happened.
Instead, Brad made small talk with me as he did my scan. He told me about his kids and what colleges they’re going to, why the Conejo Valley is better than the San Fernando Valley, why the COVID lockdowns are ruining our economy… simple stuff.
Towards the end of our afternoon together, he left the room a handful of times as he told me to do some stretching or change positions so he could get a better measurement of baby girl’s spine. He never got the measurement of her spine, and told me they’d probably call me later to schedule another scan so they could get it.
He never turned the screen towards me. He sent me home with 5 printouts of her profile as he said “at least we got these.” And that was that. Carrying his lackluster energy back to work, I showed my husband her picture and we both thought.. “cool? alright. yea. I guess, cool.”
Baby Ivy at her 20 week anatomy scan
Later that evening I got a call from Kaiser, thinking it would just be to schedule another scan for her spine measurements. Elise had informed me in the kindest way possible that something was wrong.
“I have to tell you… your baby has a diaphragmatic hernia. It means there’s a hole in her diaphragm and her stomach is developing in her chest cavity.”
I blanked out for a solid 30 seconds as she kept talking. I remembered the day before the scan I’d read a story about a woman who chose to have an abortion after finding out her baby had a diaphragmatic hernia and their stomach and intestines were crowding their lung and heart in the chest cavity. The lung was a sliver of what it should be and may not ever fully develop. Her baby had a very small chance to live. She didn’t want to put her child through what could possibly be months or years of suffering through surgeries, hospital visits, and breathing/feeding tubes. She chose to terminate.
I’m not the best at having quick emotional responses, so I remained calm as I scribbled “diaphragmatic hernia” on a napkin and handed it to my mom and husband across the table from me. My husband quickly Googled the term. His eyes widened as he shook his head “no” to indicate to my mom that this is really really not good.
I don’t remember exactly what else Elise said. I remember asking how bad it was. She said “…it’s significant.” In her sweet yet concerned tone, she told me something about “if I wanted to continue the pregnancy… ” and if I did, she would get me an appointment with a specialist right away.
Somewhere within the blur of conversation and shock, she told me she’d make that appointment with a specialist. After another hour or so, she called me back to tell me I had an appointment in 2 days and they’ll do another ultrasound.
I immediately felt overwhelmingly grateful for my happy and healthy dogs. They were the closest thing I’d ever had to children and I was newly amazed that in the many years we had them, no major health problems surfaced. It almost felt like a complete miracle that they were so healthy. I kept thinking about how fragile tiny little fetuses are, and how much could go wrong as they’re forming. It was just a hole, like how Jimmy Kimmel’s son was born with a hole in his heart or how my nephew was born with a tiny hole in his ear, like he had it pierced in utero. It was just a hole, but in a horrible place.
I spent the next two days crying more than not crying, watched my husband, sister, and mom cry with me, and kinda slept a few hours. I didn’t want to be pregnant anymore. I pictured my daughter being miserable in my abdomen. I’d be miserable with my stomach in my chest too.
My husband and I discussed what we would do if the specialist said this or that, and we prayed to the universe we’d get a clear direction after the visit. We didn’t. The specialist confirmed the diagnosis, her stomach and part of her intestines were in her chest cavity. Her heart was displaced to the right side of her body, and they couldn’t see her left lung at all. Her right lung wasn’t as big as it should be because of all the crowding. Her heart and brain looked good, her fingers and toes looked good, but her kidneys were enlarged. This *might* mean theres a genetic or chromosomal component, as 20% of Congenital Diaphragmatic Hernia or “CDH” babies have.
Our baby was right in the middle of a mild and severe diagnosis. Statistically she had about a 75% chance of surviving after birth.
I felt nauseous thinking about how my sweet little girl’s soul could possibly be born is such a mess of a body. I wondered if she wanted to be on this earth right now, in this body, with these inevitable lifelong issues. I wondered if her soul would come back to us at a different time in a better body. I kept asking her if she could give me a sign that she wanted to be here. Now. In the body she has.
When I went to visit two of my best friends that weekend, we drove to lunch and happened to park on a street called “Ivy Street” that I noticed soon after I got out of the car. Maybe I was fishing for it, but I took that as a sign she wanted to be here.
Ivy Street in Ventura, CA
Over the next couple weeks I read hopeful stories from moms on CDH Facebook groups. Their kids had some health issues like asthma and gastric reflux, but otherwise they were normal and happy. I also read a few stories of babies that had died within a month or two after birth. And a few stories of babies that died even later than that.
I thought about my niece who can’t see very well out of her right eye because she had cancer when she was a toddler. She’ll probably never be able to, but she’s still a normal and healthy kid. Most kids have health problems, right?
The decision to terminate never felt right. Her chances of surviving were greater than not, and I figured if she didn’t want to be here it would be more obvious. So we kept going. And the longer we go, the more hopeful I feel. Our doctors are realistic in how this is a serious problem and it’s not going to be easy, but she has decent chance of survival.
After she’s born, we wont get to hold her. She’ll be whisked away to the NICU where she’ll be hooked up to breathing and feeding tubes. She’ll get surgery to push her stomach down and repair the hernia as soon as she’s stable.
She’ll be in the NICU for about two months. It could be less or more. We’ll hope she doesn’t have to go on ECMO, which is like life support for newborns, as her survival chances greatly diminish if she does.
I keep thinking how maybe she chose me to be her mama because I’m strong enough to handle this. Most days I feel strangely ok about everything. Like, it is what it is and it’ll be what it’ll be. I’m harnessing the energy of my sister powering through her toddler’s chemo treatments for retinoblastoma.
I know this could all be worse, and for many mamas it is. Her right lung could be even smaller than it is, or she could have chromosomal issues that might mean other malformations (I got an amniocentesis to test for chromosome issues and it came back clear).
I’m overjoyed to have all the family support we have, I’m happy I can feel her tiny kicks multiple times a day, and I just feel so lucky for our two happy dogs. Next ultrasound happens on May 14th.
