What Happened to Owen?

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.

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Taking Up Space

I was on the way to a doctor’s appointment when I stopped into a local coffee shop to pick up an iced coffee to sip on the way.

The lady in front of me in line seemed to have already finished her order. She had her coffee, but she was still chatting with the barista. They were looking at some pictures on his phone, and that’s when I realized. This is the guy I had heard about from Zach. He and his wife had a baby a few weeks after Owen was born/died. I knew about him because he was proudly showing his brand new son’s pictures off the first week Zach went back to work. Zach had stopped in for coffee to help him get through those first few rough, rough days. What awful timing for both new dads, I had thought at the time. So anyway, now here he was again, showing off his son, and here I was, just wanting my coffee. Another barista came out from the back and noticed me, finally, and called from behind the counter to ask what I wanted. I placed my order, and the chit-chatters finally dispersed so the proud dad could ring up my order. I paid, tipped, and was happy to be getting on my way. I wasn’t running late, but I wasn’t early either, so I was feeling a little pressure to get moving.

I was about to turn away. I was about to be able to avoid this interaction entirely, when all of a sudden, “Wait! I certainly can’t deprive you of pictures of my amazing four month old son!”

In another world, where I’m comfortable allowing myself and my grief to take up some space, I told this man that my baby son died in April, and I’d really rather not look at photos of his son, aged only 2 weeks or so less than my own would have been.

In this world, I gave the briefest of glances at his phone, grimaced at him in an attempt to smile, and barely made it out of the shop before I couldn’t contain the tears anymore.

 

 

And still I left wondering how rude he thought I must have been for not gushing over his precious baby.