Where I’ve Been

I haven’t been around the blogosphere for several months now, but I promise I have a good reason for it! After the Capture Your Grief challenge, I found that I needed a little blogging break. Meditating on grief every day is a really emotionally trying exercise. Then, I got some news that made blogging in general…complicated.

I’m going to put a *TRIGGER* warning for other loss moms reading because I think I would want one. I’m about to write about a new pregnancy and a new baby.

 

 

 

 

 

 

 

So if that’s not a spoiler, I don’t know what is. Zach and I are expecting a new baby boy in August 2015! We are thrilled (!!!), but the first few months were quite full of fear. As I’ve written in the past, becoming pregnant poses a substantial risk of more loss. There was no way for us to tell until about 12-13 weeks how this pregnancy was going to turn out. Of course, even now at 16 weeks pregnant, there are no guarantees. We are very hopeful for this baby, but we are no strangers to loss. We were fortunate that we know the genetic mutations that Owen inherited from us, so we were able to test for them very early on. I underwent chorionic villus sampling (CVS) at 11 weeks so we could look for those mutations in this baby. While we waited for results, we had two very promising ultrasounds showing normal length long bones and hands with only 5 digits each. Since Owen’s long bones and hands were pretty clearly atypical early on, that gave us some relief. We got our final results at 13.5 weeks which told us this baby is free of EvC! He is a carrier, like us, which should not affect him in any way.

I had (have) a lot of conflicting feelings about pregnancy the second time around, but I think that is another post for another day. In the meantime, here’s our new little nugget:

 

baby

 

 

 

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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.

Universal Grief

I’m constantly surprised that the grief things I thought were unique to me are actually universal. That overwhelming feeling of guilt I had the first time I laughed after Owen died or let an entire afternoon pass without an intentional thought of him? Someone else has been there before. The uncomfortable dilemma of how to answer someone who, during the course of idle chit chat, asks if you have any children? Yep, that’s already happened to a bunch of other broken-hearted mamas.

I have a lot of guilt. I know that it’s irrational and (after some really intense conversations with our cardiologist and Dr. Krakow at the International Skeletal Dysplasia Registry) I know that we did absolutely, 100% the best possible thing we could for Owen in letting him go. He was always going to die. From the moment he was conceived to his first little kitten mewl to the time we withdrew interventions, his course had been decided. But I still have guilt, and I’m learning that that’s pretty universal too. I came across this essay at Still Standing a few weeks ago, and as soon as I read the title, I felt it. I am not alone. When I am torturing myself that I didn’t do more for my son, a great swell of other mothers rises beneath me and holds me up. They’ve all been there before.

A large number probably even know what it’s like to believe that you could have done the impossible. After Owen had died, when his body was still with us but he was gone, I had the strongest urge to breathe life into him–to just put my mouth to his and breathe. He had been so perfect and robust, aside from his tiny chest. I just knew it would save him. I knew the numbers of his illness: the sizes of the chambers of his heart, the gradient of his pulmonary pressure, the circumference of his chest. But, I couldn’t stop myself from thinking that I could give him life if I just wanted it enough, wished hard enough, loved him more, even though I wanted him intensely, wished for him with all of my being, and loved him ferociously.

There’re always the what-ifs in so many things in life, but they are especially present in baby loss. What if I hadn’t taken one dose of ibuprofen, with my provider’s approval, at 8 weeks pregnant? What if I had eaten more protein? What if I had laid on my left side more? I do know that ultimately no amount of left-side lying, protein eating, or medication avoiding could have saved Owen from faulty genetics, from a mutation laced in his cells. I know that I had a nearly perfect pregnancy, health-wise. Still, in the moments when missing him overwhelms every other thought, I wonder, why isn’t he here? There’s no science that answers this pain, and there’s no genetic test that soothes the loss of him, my perfect, beautiful baby son.

9 weeks gone

Grief is uncomfortable.

For the first weeks without Owen, I was full of sadness. I both went to sleep crying and woke up crying, which I previously would not have thought possible. Zach had taken off work, and we spent a lot of time just talking about Owen and missing him. I freely gave myself to grief and just wept. It felt right to grieve that way. Owen deserved to be mourned. Toward the end of that time, we started venturing back into the world. It felt good to get out of the house and do things that used to make us happy, even if we weren’t able to fully enjoy anything yet. Relatively often, one of us would experience what we started calling “sad attacks” when we would be in the midst of a completely innocuous activity and suddenly become overwhelmed with grief. That I’d end up sobbing about 5 minutes into my daily shower was kind of a given for almost a month. I imagine it was a pretty typical experience. Meditating on Owen’s life and how special he was to us felt completely natural, but that understandably brought grief along with it.

Nothing felt wrong about being so sad for so long, but the overwhelming sadness started to wane eventually and gave way to a general melancholy that accompanied everything I did. Zach returned to work, and I was at home alone. In the past it would have been a chance to watch all the terrible reality TV and crimes dramas that I wanted, but I didn’t really know what to do with myself anymore. I wasn’t really keen on seeing anyone. I definitely didn’t feel comfortable being out of the house for very long, lest I lose my composure entirely in a public space. I slept a lot, read a bunch of books I’d been storing on my kindle, and started to think about what I was going to do for the foreseeable future since my plans for the next eighteen years were now a bust. It wasn’t actually as depressing as I’m sure it sounds. I’d been a little anxiety ball for the past 8 months so sleeping until noon felt pretty alright. And I did watch a lot of bad television.

Sometime around five weeks, anger started weaseling its way in. I hated feeling angry. It felt so wrong and disrespectful of Owen somehow to feel angry. The kicker was that I didn’t even have anyone or anything to be angry with. Who was I supposed to rage against? What happened to Owen felt like a kick in the teeth from the universe or a big cosmic joke, but what happened to us wasn’t some supernatural punishment for past sins, it was genetics, an autosomal recessive disorder. As much as Zach and I love each other, 25% of the time, our genes won’t work together. The statistics for Owen’s condition are astounding, something like 1/250,000 for the general population. But us? 1/4. Gah! I was so angry at our broken, mutated genes and the unfairness of it all. And so, so, so very sad that the genes we gave Owen took him from us. I didn’t know what to do with my anger, and I still don’t. I’ve gotten much more accommodating…I don’t fight it anymore, but I don’t feed it either. It’s supposed to be normal to be angry, so I just let it flow.

When I started back to work, I felt like I was having a new, ghost-like grief. During times that my mind was occupied with mundane, daily tasks (putting on scrubs for work, for instance), my breath would catch and my heart would break, and I just felt consumed with devastation that Owen wasn’t here. I would go stiff at the suddenness of it. But then as quickly as it came, it would pass without any residual effects.

I am content more often than anything else now, pleased to just be in whatever experience I am having. Oftentimes, I do still feel sad. The weird thing is, I’m also happy when I’m sad, and I’m starting to realize that’s the new normal. I’m not some kind of bereaved parent savant who just knows that this is the right way to move forward, but I feel like this is simply what happens when you lose a child. Everything in the world is tempered by the knowledge that someone who should be here, isn’t. That can only ever be sad, and so I’m both at the same time, all the time.

Owen would be 9 weeks old today.

I miss you and love you so much, my sweet, wonderful, beautiful baby boy.