yours sincerely, the clinical genetics dep't.

"The cause of her demise was early onset cardiomyopathy."

Commonly referred to as DCM. The knew from day one what was wrong with her heart. They credited my instincts for sensing something was off, for bringing her to the A&E that morning. I was worried about her loss of appetite. Never in my worst nightmare did I envision we'd end up riding to the children's hospital in the back of an ambulance by mid afternoon.

They also told us that day that they would likely never be able to tell us the underlying cause.

Unacceptable. Horrifyingly unfair. You are DOCTORS. Giving me the information I need to help her get better is your JOB.

We had absolutely zero control over the situation from that point forward. She struggled for the next week before we lost her after the longest night of our lives.

"I am pleased to let you know that again, no abnormality was identified. Whist this is good news, it leaves us with an uncertain situation once again."

That's it? That's ALL you can give me? After a year of candidly discussing how much of her DNA was left, your desire to preserve the precious reserves in the event that some discovery was made? THAT IS MY BABY you're talking about in goddamn remaining measurements, for the love of all things remotely sensitive.

"We have tried to explore the possible options as to the aetiology of the cardiomyopathy identified in Sadie and we remain without a definitive answer."

Then honestly? What the fuck ARE you good for. Honestly.

"This means that we are left with a small residual risk of similar problems happening again in any future pregnancy."

A small residual risk. How do I wrap my head around 'a small residual risk' as it applies to the life of my child? I can wear a helmet. I can tell him to put a condom on. I can wait for a green light before crossing. What can I do to mitigate the risk of going through it all over again? Much more importantly, putting another child through it all over again?

"I would advise you to contact me when you confirm a pregnancy at home in order to enable me to arrange the relevant scans for you."

Well if I were you Honey, I wouldn't go out and buy stocks of Clear Blue Easy any time soon. Trojan, perhaps?

.::.

I'm going through a bit of a bitter phase lately. I hate that I still get angry at the world, but it's still there, simmering right under the surface. It gets worse the more I put pressure on myself to gather the proverbial balls and start taking folic acid.

I like my questions to be answered, and I typically 'need' to make my decisions from an informed point of view. If I'm being really honest, I regularly wonder why it couldn't have happened to someone else. Someone awful and cruel. Someone who 'deserved it'. 

Without the control I would normally exercise in another paramount life situation, I am left feeling weak. Feeling weak piques my temper. I'm not proud of this, but there it is. As I work to not let it seap through the seams to stain the relationships in my life, I wonder how thousands of other parents in our situation have learned to deal with the same situation.

.::.

I think this time around I am asking for help.

I would really, really love to hear from parents who have been through experiences with genetic counselling, whether your results were definitive or inconclusive, like ours.

I would really, really love to hear from parents who went on to have more children despite the risk of a recurring condition.

.::.

If your loss was due to a potentially genetic condition, how did you deal with the decision to try again? Were you able to put the stats from your mind and forge forward with hope? What did you find helped you in the process?

Comments

[Paige]

Jen, I hear you loud and clear. Our son's genetic testing from the one lab in the world to test for the assumed condition just came back negative for any mutations, but our geneticist tells us that doesn't mean he didn't have the disease. I'm no geneticist, but this makes no sense to me. We were told that we had, most likely, a 25% chance of a recurrence due to the autosomal recessive nature of the condition. To me, that's horrible odds. To my husband, it's not so bad.

We decided to try before the testing was completed and we're happy with that decision, since even though the tests were completed, we don't have complete information. Science, specifically genetics for us, has proven to be no science. Had we waited for answers, we'd still be waiting. I am four months pregnant and it is terrifying to not know whether the baby will be afflicted by this lethal disease. Because of the negative gene tests, we couldn't test this baby, and are relying completely on ultrasound. The stats are always at the forefront of my mind, but so are glimmers of hope, and I don't think they'll ever be mutually exclusive. On bad days, I'm convinced this baby will die. On good days, I think maybe it'll be different this time. The only thing that has helped me is my unyielding desire to bring home a healthy baby, to make my son a big brother, the support of my husband, and that of my babylost mama friends who are pregnant again.

I wish you strength on this journey, it's exhausting and scary. And I'm here if you ever want to vent about anything and everything genetic. And I'm so sorry for the loss of Sadie and the lack of answers. It's fucking frustrating, to say the least.

[niobe]

My loss was due to preeclampsia -- so not genetic in the sense you're talking about, but raising similar concerns about recurrence.


I was given a 60% chance that preeclampsia would recur in any subsequent pregnancy. If it did recur, it would be fatal to the baby 50% of the time.

So, in sum: 40% chance of no preeclampsia; 30% chance preeclampsia, but the baby would survice; 30% chance of another loss.

Those odds were just too high for me to bear, so we worked with a surrogate. If that option hadn't been available, there is no way I would have ever had another child.

[tash]

Oh Jen. Ditto Maddy. We did what Children's needed for the future, and she's now well travelled: Genome project at Baylor; slides of her brain to various specialists; folder, DNA, and protein samples to the Netherlands. She's been case-trialed at conferences, talked over the phone about with neurology specialists in the midwest and at my alma mater, and don't even ask me where her eyes were sent -- they never told me. And just two months ago, the counsellor called just to check in and say they were *still* running tests on her, in case they got a hit.

They never got a hit. The genetics specialist thinks it's a never-been-seen-before autosomal recessive, which gives us a 1:4 chance of this outcome again. Everyone else now seems to think it was a freak infection or placental problem circa 25 weeks, which gives us anywhere from low (2-5% recurrence) to meh (as high as 10% recurrence). Neither side can prove their case.

When they first told me this, a year after she died, I was angry. Now to be honest, I feel kinda badly for them and the medical profession as a whole. I realize now that diagnostic screens and tests and such are really great if you kinda know what you're looking for. If you're just looking for the needle in the haystack -- even if the haystack is an MRI or sequenced DNA -- you ain't gonna find it.

And the real crapper is as bad as her issues were, they're not visible on u/s. I was examined 14x through 32w. If we have another child, we'll know if she'll live at birth.

Obviously, I haven't done much on this front because . . . SCARY. Dude. On the other hand, I've kinda taken the ho-hum, mellow, basic law of probability attitude that should we get pregnant again, either it will happen, or it won't. One or the other. So I don't focus too much on all the little number crunching in between. At times I wonder if I've so overthought this, I've crushed my gut irreparably.

Sometimes you can't know until you do. This really fucking sucks this limbo, Jen. I know it too well. Zero judgment from me, you have my full support going forward no matter what you decide to do. And you should have this support from your genetics team and obstetric people too.

[Erica]

I wish the answers they gave you were better and clearer, Jen. And I wish this wasn't so horribly scary and frustrating.

After giving birth to a baby with a congenital diaphragmatic hernia (without any other health conditions), our chances of a future child having the same defect go up to 2%. Which may seem like good odds, but it's still terrifying to me. Not terrifying enough to keep us from trying again, but deciding to try again was, for me, an emotion-based decision, driven by longing and desire that came to outweigh the fear. It still felt like stepping off a cliff, like a hugely scary gamble.

Being pregnant again feels like a hugely scary gamble, too. For a while it seemed as though all of the doctors we spoke to made a point of telling us they'd never seen a couple go through this twice, which is reassuring. Having come down on the wrong side of statistics already, however, I can't hold on to a state of being reassured for very long. And no one knows what causes CDH, which makes me feel helpless and crazed to the point where, some days, I want to claw holes in the walls.

[janis]

Jen, I have no experience to offer but I SO hear you about wanting those answers.
We did not know what exactly went wrong, just guesses... and I know, even if they could give me A reason, it will never be a reason good enough, and in my head I have a million other possibilities how my baby can *still* die.
This is so hard, I am thinking of you. xo

[Sally]

Hope was stillborn at 40 weeks and 5 days due to a very late onset, freak infection. We were told there was no increased risk of it happening again. Just really shitty luck the first time, and we sort of got the "better luck next time" as we left the hospital with empty arms and broken hearts almost one year ago to the day.
I am now 23 weeks preg again, and of couse absolutely terrified of it happening again. Or something else random and bad happening again.
So for those of you who do have real, increased risk factors, genetic issues etc, my hats go off to you. No advice here obviously, Jen. Just listening and caring. And wishing none of this nightmare was true for you. I have seen Sadie's pictures on your blog, and it just breaks my heart she's not here. I'm so sorry.

[mirne]

We didn't have genetic issues. Both our children were perfect. But they still died. I know what you mean when you say you feel bitter. And I too constantly wonder why it didn't happen to someone else. And I don't care if that's mean. I constantly thinking "why me?" I wrote about this on my blog recently.

[Rita]

Most days I come here and cry along with all the other parents who are left with empty arms. Today I am stunned to find this discussion. We are still grieving our son, especially this week, the week it should have been his first birthday. We are also grieving the possible loss of our future children as well. Our son died of a genetic disorder called spinal muscular atrophy. He was 5 months old when he left us. He was never able to hold his head up, move his legs, or hit any of the other milestones that babies usually do. Eventually his lungs just couldn't keep him going and I held him as he took that last ragged breath.

We have a 25% chance of any future children having SMA. I have studied genetics in college, worked in the genome center at Baylor, but never did I picture myself on THIS side of things. Some days I decide I want to be a mom and we should try. Usually we are out talking at a restuarant, debating our options over dinner. I come home and get online to find that another baby has died of the same horrible disease and change my mind. I can't do that again. I can't hold another dead baby. Our options are try again (have a CVS test, and decide what to do if the baby has SMA), PGD/IVF (we can't afford), adopt, (my husband won't even discuss), or remain childless (what's the point in life?).

I wish I had the answers. I need them myself. Our son was going to have a great life. Why him? Why us?

[B.]

I'm in a similar boat. Cause of death: unknown. We had an autopsy performed on our daughter, as well as some genetic counseling. The geneticist told us that a couple of the anomalies listed in the autopsy could point to an incredibly rare autosomal recessive condition (which would give us 25% chance of the same outcome). But really, they have no idea and neither do we.

You asked how others dealt with the decision to try again. I struggled for a year and half with whether or not to get pregnant again, and now I'm 20 weeks along with our second. I just knew that I wanted to raise a child. I couldn't stay in that place that I was in forever.

I would have never believed it, but I actually feel calmer now than I did before I was pregnant. For me, anticipation of the event (the event = getting pregnant) was worse than the actual event. Sure, I've had my moments of total breakdown, but I've also had hope for the first time since my daughter died.

I don't know what's going to happen. This little baby boy could go at anytime without warning, just like his sister. And it would absolutely devastate me. But I knew that I wanted to mother a child. And I knew that I would always regret it if I never tried again.

[Kara]

My daughter died of Potter's Syndrome. The doctors told us it was a "freak occurance" and most likely won't happen again. There is always the possibility of it being truly genetic, but we don't know the answer to that because my husband and I never got tested. We didn't do any genetic testing on our daughter either, just an autopsy.

We are TTC again, with no success yet. What made us want to try again was the yearning for a family, a large, happy, LIVING family. Before my daughter died, we were naive, we only wanted two children and thought they would come easily, now, after losing her, we realize we should try to bring at least four, maybe five into this world.

I do wonder if me or my husband has one kidney, and sometimes I want to sneak into the hospital and ultrasound myself. Convincing the doctors to do the test would be almost impossible, as out health insurance wouldn't cover it.

[Katherine]

We know what's wrong, and actually, it's "not a big deal" as far as genetics go, just a genetic tendency to clot too much. Easily managed during pregnancy with blood thinner and careful monitoring, not requiring treatment past taking baby aspirin when hormones are normal unless the cardiovascular system is placed under some type of stress or trauma. Present in my entire family with my mother and husband on the carrier side of things. Oh yeah and testing related to all this reveals other problems so my sister likely won't ever be able to carry a child to term, some ways better than finding out the way things went with us, some ways worse.

I ended up talking to a new teacher at my son's school this spring. She had the exact same genetic problem (well, talking same pool of people here) and was probably one of the mothers whose children were the reason the doctors knew to test us, because at pregnancy six she volunteered to be examined by specialists (the lady is now over 50 so this was a few years ago). She had ten children - lost four and six living, the male/female problem that is now known to be a main issue with this particular genetic mess, all living are boys. She didn't really have an option on whether to keep going even though she knew something was happening. She still misses the ones who died, and loves the boys who are now busy with lives of their own. That's kind of what I'm clinging to, hoping someday we can afford the financial and just go for it and be ready to hope, but right now for me too the fear seems to be the biggest thing, and I have to wonder whether having the option not to conceive is in fact feeding the fear.

I wish I had something more helpful to say, that's all I've got right now though. I wish you had some kind of answer but honestly even having the answer the fear would probably still be hanging around, it's something all of us are going to have to figure out how to deal with one way or the other. At least we can come here and be here for each other, better than the glib "oh, it will all be fine" comments that seem to propagate elsewhere when the subject of having more children comes up.

[Rita]

Katherine...thank you for that last paragraph! I hate the "oh, it will be fine" comments. LIke it is easy to decide to go ahead and try again knowing that you might have a baby that won't make it. Easy to say, but oh so hard to do. I miss life back on the other side of things, the side where babies don't die.

[TracyOC]

Even the slightest odds seem incredibly daunting when you've already had 100% of misery. Our problem wasn't genetic in nature so I have no advice to offer on that front. Just sending support and hoping that you come to a decision that gives you some peace.

[Funsize]

Although my "condition" isn't genetic- he died from placental abruption- there is a risk of it happening again. A 15% chance of recurrence. The doctors, my OB, had no idea why it happened, and still have no answers. I had no pre-existing conditions, and a very healthy, perfect pregnancy. All they say is "these things just happen". But they don't know why it happened to me.

We decided to go again, maybe a bad decision on our part considering the two miscarriages afterwards. During those two short pregnancies, I (naturally) was anxious about something going wrong. But it was something I knew I had to endure, and try to have hope it was all just a fluke. We still want a baby, we need to have the light in our lives again. We're still going to keep trying, and the next time I get pregnant we'll try to enjoy every waking moment for it. It's the least we can do for the baby, and for us.

[Carly]

We have been given no real answers. I was too upset to allow my doctor to do any tests or even an autopsy on my son who was born sleeping due to hydrocephalus. If its a genetic problem its a 1 in 2 chance of it happening again if we fall pregnant again with a boy. I thought to myself at the time that if I found out it was genetic I would be too afraid to try again as the odds were hardly in our favor.

We just jumped in the deep end and got pregnant again. I gave birth to River 1 year and 4 days after Christian died. She is perfectly healthy. I am now pregnant again. 19 1/2 weeks. I find out on Friday if this little babe will have Christian's problem.

My love to you and peace as well.

Carly x

[Anne]

Your letter reminded me of a postcard I got from an OB, a postcard after 13 tubes of blood and testing on me, that basically said NORMAL. That's it. No answers, no explanations of what tests were done, any even slightly elevated levels. I remember telling everyone I wished I could call the doctors and say My Uterus Tore Up Your Postcard.

I wish there were answers for you. I wish there was a magic eightball you could shake and it would say Go For It! Next Baby Is All Good!

All of our losses were so early, babies lost before some people even consider them babies. But one, one who made it to 13 weeks, had genetic testing done, and we did not receive the results until a year later, and only then because I was crying in my OB's office about how we never had any answers and she said Oh, Wait, didn't anyone call you? The chromosome count was 96XXXY. Blah blah blah, didn't split....and I remember feeling like I had slammed into a brick wall, and I had my answer, but it didn't help.

Eventually- through an eight year process- we have 2 kiddos, and are 24 weeks into a suprise pregnancy. I'm not sure if it's hope or stupidity. I often tell people I feel like a prize fighter who just keeps getting knocked out and doesn't know how to stop.

If anyone invents that magic eightball, I think we could all use one.

[hummingbirdindy]

How did I deal with it? I didnt do any prenatal testing with the next pregnancy. I didnt want to be faced with questions or options. I was just pregnant. I had the same doctor. He accepted that I didnt want any testing. He quietly prepared for either a totally uneventful birth or a complete shitstorm of a birth - bless his heart.

What we got was a middle ground birth with some surprises, non genetic.

Maybe that isnt dealing, maybe that is ignoring the issue. But I figured if noone could tell me anything before, why would later be any different.

To quote Drew Barrymore "If you dont take risks, you have a wasted soul". The way I saw it, to be so afraid to never try again.... to fear the hurt so greatly that I could not try to love again diminished the honor for the life of my son. Hurtis a part of love and life. I know I loved him, because it hurt.... and if I wanted to be filled with love, I had to risk the hurt... but I didnt have to obsess over it, especially when the experts knew no more about anything about it than I did.

[Heather]

I don't know if I fall into this category or not. My son was stillborn from complications due to Down Syndrome. I was 31 at conception. At the time my risk was 1/900, now that I've had a child with DS my risk is 1/100 of having another with the same condition, and most likely having that child die before birth. This leaves my husband and I very leery of TTC again. Its only been 6 months, and we were just cleared to TTC again, but my DH is very certain that he is not ready. Not ready to tempt fate again. Not ready to have another child with DS, not ready to try and survive another dead baby. Part of me is certain that I would go through this heartbreak a million times if it meant I could end up with a healthy baby in the end...the other part of me thinks I'm a damned fool! I am so full of fear that I will have another child die. But, I would give my right arm (and my left), if it meant I could fill them with another child!

[Val]

We, too, never got any clear answers after genetic testing... Baby Jessica's hydrocephalus & spina bifida were written off as freak "lightening strike" occurences & I honestly can't remember what % risk they gave us for recurrence. Whatever it was, it was enough to scare me off - her loss was traumatic enough for me that I never wanted to try again. However, I succumbed to the arguments persuasively presented by my husband & thankfully, our next child was perfectly healthy.
Unfortunately my marriage died - heh heh, joke's on me, right?

[kristin]

I can really relate to this post. My only child, my daughter Peyton was born with Leukemia. BORN with Leukemia. The odds of being born with her type of Leukemia fall somewhere around one in fifty million, there were three born in the world with it last year, and not one single person can tell us how or why this happened. It is so hard to make life decisions when you have no answers to guide you. Our doctor told us the chances were slightly higher to have other children with Leukemia, but not to worry too much. When you have been on the receiving end of one in fifty million odds, there is nothing comforting about hearing that the chances of it happening again are slim. I too am bitter lately. I am so sorry that you are going through this, I can only say that as painful/scary/terrifying/nauseating and anxiety inducing as getting pregnant again will be, the reality of going through life without ever welcoming another child is even more unbearable. You are in my thoughts.