We got the results of our genetic testing several weeks ago. I’m not sure how much I’ve alluded to it here, but we had a full skeletal dysplasia panel completed with Owen’s cord blood. It took a full 3 months to get his results, and there was a chance that we wouldn’t get a result at all. Not all causative genes for SRPS or Ellis van Creveld have been found, so we had about a 60% shot at getting a meaningful result.
Owen had a mutation in the EVC2 gene, which means that he officially had Ellis van Creveld syndrome. This is what I had suspected during pregnancy, but since Owen was so severely affected at birth, I had started to think I was wrong, that he actually had one of the definitively lethal short rib polydactyly syndromes.
So what did EVC look like for Owen? He fit all the typical signs pretty closely: extra pinky fingers on each hand, short ribs, congenital heart defect, and short arms and legs. Except for the heart defect, which occurs in only about 50-60% of babies with EVC, his clinical presentation was fairly standard for an EVC baby. I’m still left to wonder why he was so severely affected. This was the diagnosis we had hoped for throughout pregnancy, but it didn’t bring us any hope in the end. (I want to be clear, though. For most babies with EVC, respiratory support at birth and surgery to correct any heart defects can lead to a happy, relatively healthy child. This disease is not lethal for 70% of babies, which is pretty significant.)
Most papers about EVC cite the heart defect as the main indicator of whether or not the baby will thrive. We found out that Owen had a form of hypoplastic left heart syndrome at around 33 weeks, which is one of the most complex heart defects to repair. There is no cure for HLHS. Parents with HLHS babies are given the option for comfort care or a series of surgeries that are considered palliative–the baby’s heart is essentially rebuilt so it can function with one ventricle, but there may be the need for a heart transplant as the child grows. Owen’s case wasn’t severe and even may have allowed for a repair with two functioning ventricles, but it was bad enough that we could be almost certain he would need open heart surgery at birth. I think it was probably around this time that it hit home for Zach and me that we wouldn’t be bringing our baby home for a long time if we got to bring him home at all. Our pediatric cardiologist, Dr. Videlefsky, was wonderful to us and so compassionate about Owen’s needs. I called him the day I got induced to let him know Owen would be here soon, and he assured me he would come whenever he was needed to evaluate Owen, which is no small feat since Owen was born at 3:08 am and Dr. V lives in Atlanta (about 1.5-2 hours away from us, depending on traffic). Owen cried some when he was born but needed lots of respiratory support. He did better than the NICU staff thought he would, so he was taken to the NICU to wait for Dr. V. During this time, his respiratory status was declining, and we knew that if we did not intubate him, he would die. I really, really did not want him to go through intubation if he wasn’t going to live anyway, so we tried some stop-gap measures until we knew if he would be a candidate for heart surgery.
As it turns out, Owen wasn’t a good candidate for heart surgery. His short ribs didn’t support the development of adequate lungs, so he wasn’t able to breathe well at all. It’s ironic that Owen’s heart, while not formed properly and not well-functioning, is not what took his life. When Dr. V did Owen’s echo, his pulmonary hypertension was so severe that he most likely would not have survived the surgery required to treat his heart defect, much less the recovery afterwards. His heart wasn’t really great either, but Dr. V thought a two-ventricle repair would have been possible if Owen’s lungs weren’t so tiny. He shared that he did not think it would be in Owen’s best interest to pursue surgery. Perhaps the biggest blessing in that moment is that I have never doubted Dr. V. I didn’t feel comfortable fully trusting any other doctor that evaluated Owen, but I trusted Dr. V.
We made a decision that I never wanted to make even though I had been preparing myself for it since 33 weeks. We stopped all interventions. We made Owen comfortable and rested him on my chest. He didn’t seem to be in any pain, and I thought at least I can give him this. He knows me, knows my voice, knows my heartbeat. I can’t keep him alive, but I can keep him loved.
That’s the why, medically, of Owen’s death, and I know we won’t ever have an answer to the greater Why (nor do I think there is one). It helps me to at least understand what physically took him from us. It has been hard for me since getting Owen’s official diagnosis. I spend a lot of time running the numbers: if only 50-60% of EVC babies have a heart defect, and only 30% of EVC babies die, how did this happen to us? Why weren’t we lucky enough to only pass on a mild form of debilitating disease to our son?
Zach and I have since undergone our own round of testing to confirm that Owen’s condition came from us, and we have both been confirmed to be heterozygous for a mutation in the EVC2 gene. That confirms that we carry EVC and passed it on to Owen, as I’ve referenced before. There is no effect of carrying EVC; it is only expressed when a person inherits 2 bad EVC genes.
Occasionally when people hear Owen’s condition was genetic, they start to ask about our family histories. Surely there were signs, they think. I’m sure the impetus for this is the fear that people could unknowingly pass a lethal disorder onto their children, but that can indeed happen. It happened to us. As far as Zach and I have been able to track, we have no family history of EVC. It seems that it has never been expressed before, which just means that our relatives who carry EVC produced offspring with non-carriers or got lucky and produced healthy offspring with another carrier. It’s rare to carry EVC and even rarer to mate with another carrier. The chances that Zach and I would both be carriers is 0.000004%, but now our chances of having a sick baby are 25%. How’s that for odds? It would actually be kind of romantic if it didn’t end with neonatal death. Statistics can shove it now as far as I’m concerned.
PSA: There was also no test available that could have told us we were carriers before I got pregnant. EVC is too rare to be covered by most prenatal genetic screenings. However, there are some options for testing that screen for more common genetic diseases like cystic fibrosis, Tay Sachs, spinal muscular atrophy, and others. Zach and I completed a genetic screening through Counsyl to ensure (as much as possible) that EVC is the only disorder we are at risk of passing to our babies. I suppose some people may balk at the idea of this kind of testing, but I would have felt so lucky to find out I was a carrier of a genetic disease via a lab report rather than being told my baby was going to die.
9 thoughts on “What Happened to Owen?”
Thank you for sharing Owen’s story.
I find the way you accompanied him through his hours outside the womb beautiful, and the choices you made for him (not to intubate him, notably) full of love and compassion.
I am so sorry you had to take these decisions.
Statistics can shove it, can’t they? Only we “not even close to 1%” folks can truly comprehend the unfairness of this – and only we can truly empathize when others try to cheer us up with the “but you have an X% chance of everything being perfect!” I only wish I could believe in the positive stats again!
I’m sorry you had to make the decisions you did, but they were made only with the purest love. And I applaud all the testing you and your husband put yourselves through. You clearly did and are doing everything possible to give Owen and his future siblings the very best chance. Thank you for sharing your story!
Yes! When people find out we have a 75% chance of having a healthy baby, they always point out what good odds they are. They don’t sound like good odds when you’ve already lost a baby or compared to other women who have no risk factors.
Thank you. I feel like so many of us know the pain and conflict of having to make life and death decisions in a very short amount of time. While I wish there were less of us, I appreciate the company.
What wonderful parents you were to Owen.
(And continue to be)
Oh, yes, i had such similar feelings! Most babies with Down Syndrome live and so it feels so awfully crummy to have made the decision to carry and accept a child with a disability only to be given the crummy end of the statistics stick. Kind of romantic if it didnt end in neonatal death….so true. I felt some of that..resentment? no… frustration, when I was at the Down Syndrome walk- all these kids who lived. Yes, lets celebrate them, but not everyone gets the *privilege* to parent a living child. I know many others who had preemies feel somewhat similarly at the March of Dimes.
I remember reading Mabels autopsy report and wanting to understand each bit- “dysplastic kidneys with cysts” does that mean polycystic kidneys? multicyctic kidneys? whats the chance of recurrence? is it related to the DS? and then learning some surprise things, like how she had heart defects (not noted on my clear fetal echo). Learning your child’s condition in all its details is learning his/her story. a form of parenting in itself. You’ve written this so well- easy to follow- and honestly I was riveted to every word.
You do really know what it feels like to get the crap end of the statistics. I also feel like I’ve been…cheated, maybe? When I see lots of happy, living babies with EVC on-line, I want to yell it doesn’t always end that way!
After Owen died, I remember examining his body for the other signs of EVC (broadly attached frenulum in the mouth, natal teeth), and I felt like learning all these things was a part of knowing him and fully accepting him.
I am feeling like I am reading my own story. Each line, each feeling and decision of letting go…I got to spend 14 hrs with my baby and I felt my baby was alright…he looked so relaxed. He lived for 8 days and I lost him (of Jeune Syndrome) last week. Thanks for sharing your story!
Could you please tell me more about natal teeth?
Priyanka, I am so, so sorry for the loss of your little boy. I know another mom who lost a baby to Jeune syndrome. I think she would be happy to talk with you if you would be interested in talking to another Jeune’s mom. Feel free to e-mail me at email@example.com, and I’ll do my best to get you guys in touch. I’m happy to talk to you more about short rib dysplasia if you would like also.
As far as natal teeth, for Owen it just looked like he had some random, sporadic teeth emerging from his gums on the top and the bottom. They didn’t look fully formed or anything, and they were erupted from the gum line. It looked what I imagine an older baby would look like if they were cutting teeth, just in a newborn. I want to say he had 5-6 on the top gum, but I honestly can’t remember too well. I have heard of babies with his condition who had fully formed teeth and had them removed before going home. I don’t think any babies have had a full set of their baby teeth–just randomly place around the mouth. I’m not sure about Jeune syndrome, but EvC babies have dental problems in general if they live to adulthood. The teeth grow in the wrong directions, can be sort of peg-shaped, and are poorly spaced (like some grow in a tight group and others grow with way too many gaps). I hope that helps!