Day Six: Books

I read a lot; I always have. It’s surprising to me that I haven’t read more babyloss books, but it has never felt quite right. Before Owen was born, I considered reading Waiting with Gabriel: A Story of Cherishing a Baby’s Brief Life by Amy Kuebelbeck. It tells the story of parents who chose to carry their pregnancy to term after finding out prenatally that their son had hypoplastic left heart syndrome. I put it in my Amazon cart a few days after we got Owen’s probable HLHS diagnosis, but I couldn’t bring myself to actually go through with the purchase. Kuebelbeck and her husband chose comfort care for Gabriel, and even though Zach and I were heavily leaning toward choosing comfort measures only for Owen, I couldn’t bring myself to purchase a book in preparation. It felt like giving up. Kuebelbeck also wrote A Gift of Time: Continuing Your Pregnancy When Your Baby’s Life is Expected to Be Brief. That book is still sitting in my Amazon cart as well.

I did read a lot of books when I was pregnant, but they were mostly mystery novels and detective stories. I read all of Gillian Flynn’s books, and even though I found them grizzly and just a little too harsh for my taste, they were a fine alternative to contemplating the choice to let my son die.

I’ve mentioned before that I sometimes feel guilty we didn’t demand every possible medical intervention for Owen. To clarify, this is not rational guilt. When I am missing him the most (and this was especially true for the early days), I would think, if we had just demanded surgery, he’d be here now. But I know that even if we had demanded surgery and he was here now, he wouldn’t have had very long with us. Objectively, I know that Owen was too severely affected to live, and forcing long-term ventilation and respiration where there were no lungs would have been painful–more painful than I could accept choosing for Owen. Still, modern medicine tells us to fix, treat, cure. We technically chose the opposite, although I don’t see it that way. To me, we did heal Owen. We chose comfort and love, and then death protected him from any pain. To me, we took on all of this grief so Owen could live peacefully.

loving and letting go

Loving and Letting Go: For parents who decided to turn away from aggressive medical intervention for their critically ill newborn

I ordered this book a few months after Owen died. It, like the others, sat in my cart on-line for weeks before I finally bought it. It was hard for me to conceive of myself as someone who turned away from medical intervention. It’s the only baby loss book I own, but I’m content that it’s the only one I need for now. Maybe someday I’ll read the others, but today I’m satisfied to belong to a group of parents who took on lots and lots of pain so their babies didn’t have to.

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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.

Time Marches On

This Friday will mark 4 months since Owen was born and died. During this week last year, I was taking my first positive pregnancy test, barely able to believe it. For some reason, that feels pretty significant to me–that in a week, what I really consider “the year of Owen” will be over.

People have asked us if we are going to have another baby. Owen’s cardiologist paid us the overwhelmingly kind compliment that we absolutely should be parents because a child deserves to experience our love. That was definitely a balm to my heart. Without even knowing it, I had been feeling insecure about parenthood, as if maybe we shouldn’t be parents because we couldn’t keep our baby alive. Anyway, I don’t really plan to share our thought process about how we plan on having more children (either biological or adopted) in this space for now. It’s too private and involves a lot of ethically murky decisions. I’m sure I’ll post when we are actually bringing home a live infant, but until then, we’re keeping our cards close our chest(s).

However, I would like to share some of the decisions we face as carriers of a genetic disease because it’s an important part of our grief. As I’ve said before, Owen’s form of skeletal dysplasia is genetic, autosomal recessive. We have known this since we initially saw problems on his ultrasound at 15/16 weeks, but it didn’t really start to sink in until he died that we have a 25% chance of having another baby with a lethal disorder. I was on the phone with a perinatologist who specializes in the short-rib dysplasias (SRPS, EVC, and Jeune’s) the other day, and she said “Unfortunately, genetics has no memory. It’s not as if your genes will realize they’ve already caused your family enough heartache to last a lifetime.” It’s true–we have a 1/4 chance in each pregnancy. We do not get a pass in the next three pregnancies because we already had our 1/4.

We aren’t exceedingly rare. Many other people carry genetic diseases somewhat more common than ours (cystic fibrosis, spinal muscular atrophy, and Tay-sachs, for instance), so we have some experience and trial/error to look to when we make our own decisions about family-building. Before I enumerate our options, know this: there are people reading this blog who have made many of these decisions. It is impossible for anyone who has not gone through this to know what they would do when presented with these options. Every choice is deserving of respect and validation. In no certain order, here are the options:

  • Conceive naturally: Numbers-wise, we have a good chance of having a healthy baby. 75% is nothing to scoff at, and the chance that we’ll have a baby that doesn’t even carry an EVC gene is the same as having a baby with both EVC genes…those are pretty good odds. BUT. It’s hard to say that those are good odds when they didn’t work for us on our very first try. I know women who have had multiple pregnancies in a row that resulted in sick babies. I also know women who have 2-3 other children and have only had one sick baby. Trying to have a baby naturally is not without heartache. We know Owen’s genetic mutation. We can test for it in the first trimester. Getting pregnant begs “what if?” Do we carry the baby to term knowing he/she will die? Do we terminate the pregnancy? Is it even ethical to get pregnant knowing there’s a 25% chance the baby will die, whether we choose when or not?
  • IVF with PGD: PGD stands for preimplantation genetic diagnosis, which is the testing of an embryo before it’s implanted in the mother’s uterus. Even though we don’t have any apparent problems with fertility, we could opt to undergo IVF to create embryos that can be tested before they are implanted. I’ve spoken with a doctor from one of the major PGD labs, and there’s apparently no correlation between natural fertility and successful IVF. That means that even thought we could get pregnant on our own easily, IVF isn’t going to be easier just because I’m fertile. IVF/PGD has a 45-65% chance of resulting in a healthy baby. Technically, the odds are worse than with natural conception, but the stakes are far, far lower. If it doesn’t work, we don’t have a baby, but we also aren’t risking anymore dead babies. However, if it’s successful, we could be left with healthy embryos that we will never use. That’s a lot of potential life. IVF/PGD is also quite expensive, anywhere from $25,000-$50,000 or more, depending on how many rounds of IVF it takes to get pregnant. This is not covered by our insurance, so it would be totally out of pocket. We aren’t struggling with money (although having a critically ill baby leaves a lot of medical bills, even if he dies), but we don’t have thousands of dollars just sitting around.
  • Adoption: First, we plan to adopt no matter what we choose as far as biological children goes. Even if we have one or two of our own successfully, we want to give a home to a baby or child like with special needs, like our Owen. However, the idea that healthy infants are in high supply in the US is incorrect. Traditional domestic adoption costs many thousands of dollars and can take years. International adoption is also quite expensive and can also take years. We would like to save to adopt internationally, as resources for kids with complex medical needs are scarce in many other parts of the world. We are good candidates: healthy, stable, and young, but the notion that we should “just adopt” makes the process sound easy, straight-forward, and free of grief. It’s none of those. Adoption is a viable option, but it isn’t without its difficulties.
  • No more kids: A viable option! Not one that we are likely to choose, but I guess anything is possible.

I share all of those options to say this: there is no easy way. Getting pregnant and having healthy children is a miracle and a blessing. For us and people like us, it will also be a feat of science, money, or both. There is truly no black and white, right or wrong answer. I’m a member of an on-line message board for women (and men, I guess, but only women are really on the board) who carry genetic diseases. Some people conceive naturally and either carry to term or terminate. Some go through IVF/PGD with success, some don’t. Some choose adoption or use donor gametes/embryos. There are no easy answers, and every choice is valid. I’m not sure what we’ll choose (and I don’t know that I’ll ever discuss it here until I have a live baby in my arms), but I rest in the knowledge that there are women who have gone before me and have come to the other side with grace.

Everything Out of Love

From a very early time in Owen’s life, Zach and I made seemingly impossible decisions for him: Do we carry Owen to term? How far do we go with testing in utero? How far do we go with interventions at birth?

When do we stop trying to make Owen survive and instead let him die gently and in peace?

I found every. single. one. of these decisions agonizing, especially the last one. I would examine all of our options endlessly, even after we had already made a decision. I could not reconcile the idea that we were even having to make these choices. After what was probably the tenth time that I questioned Zach about the adequacy of our birth plan and preparation for Owen’s life (or death), he finally laid bare how he felt about it.  He explained “The way I see it, we just make every decision we can out of love for Owen, and that makes it the right decision.” From that point on, that’s how we made decisions. We asked ourselves what the most loving decision was, rather than the right one.

Looking back, this was perfect.  In situations like ours, there are many options. Very few of them are right or wrong. When Owen was born and the neonatologist asked if we wanted to put Owen on the ventilator, it was hard to say no.  Opting out of the ventilator was a movement towards a gentle death, and how could we make a decision that would cause Owen to die? But when we looked at the options, we didn’t feel that intubating Owen was the most loving decision since it wasn’t going to increase the quality of his life in the brief time we had with him.  Therefore, it wasn’t the best decision for him.

I struggle sometimes with guilt that we didn’t tell the doctors to do every medical intervention possible to try to keep Owen breathing, to keep him alive as long as possible no matter the cost. What if Owen had been born to another mother, one who would have insisted on intubating him, operating on his various heart defects? Would she have had an extra day with him? Maybe an extra week? But then, I remember: I am Owen’s mother. I would have done anything to save him. I would have given him my own lungs if I could, my own heart. There weren’t any medical interventions that would have given Owen a chance. What he truly needed was for us to love him enough to let him die in our arms, rather than in transport to another hospital or on the operating table.  That was the most loving thing for Owen. He went to sleep for the final time on my chest, hearing the same heartbeat that had given him life for so many months, listening to his father tell him how much we loved him.