Before I formed you in the womb I knew you...

September 4, 2010 4:26 PM

Did you have a baby that was diagnosed with a birth defect on ultrasound? How did you cope?

Two weeks ago we had a consult with a geneticist following my wife's 20 week ultrasound. They discovered a fairly serious defect in our baby's intestines that, while easily reparable with surgery, may in rare cases be a marker for an absolutely horrific genetic skin disease.

We're trying to decide whether or not to roll the dice and move forward with the pregnancy. The odds are extremely good that she will have a surgery after delivery and live a perfectly normal life. But there is a slim chance that she will die immediately upon delivery, and a slimmer chance still that she will survive and live a short life of pain and humiliation.

We're devastated, as you might imagine, and are trying to figure out what to do. I can find out plenty about the particular conditions we're looking at on various community boards. But nobody tells you how to keep moving forward with your life while you try to figure this shit out.

If you've been through something like this, how did you cope? What did you do to keep from eating one another alive? I've got the ethical and philosophical side of things pretty well locked down, so I'd be most glad for the practical and creative advice you've got.

Bonus irony for those of you keeping score at home.

posted by felix betachat to health & fitness (18 answers total)

What a heartbreaking situation.

I don't have directly parallel experience to share, but my first thought is to seek support through your medical support team. Call your OB and your genetic counselor and tell them that you need additional help--both in making your decision about the pregnancy and in coping with the stresses on your relationship. Hopefully they can refer you to some good professionals who are experienced in these matters.

This kind of networking hooked me up with a support group for a much less drastic situation that was still painful and anxiety-provoking after my first daughter was born. It was a small, targeted group and would have been impossible to find otherwise, but was immensely helpful--only by talking to medical professionals about my anxiety was I hooked in.

If only I could think of something more meaningful to say than that I wish you the best of luck. My heart goes out to you and your family.
posted by Sublimity at 4:40 PM on September 4, 2010

I had a child with a fatal genetic disorder. My subsequent pregnancies were stressful as we went through genetic counseling and testing. To be honest, I did not turn to family or friends for help as I knew my request for support would actually turn to supporting them/managing their reactions/dealing with incessant intrusive questions. So one thing I would caution is choosing well who you confide in. Be gentle on yourself and allow yourself to drop/re-prioritise parts of your life that suit the new reality of you just not being able to focus. Be extra gentle with each other - you are in this TOGETHER. You will get through it, together.
posted by saucysault at 4:55 PM on September 4, 2010 [5 favorites]

I don't know the specifics of your diagnosis/prognosis, but this website helped me survive a similarly catastrophic pregnancy experience. But that was once I decided to terminate--it sounds like you are still working through the odds, which is tortuous, and there's really nothing in the external world that can help with that process. So all I have to say is that I'm just really really sorry. What rotten news. It just sucks.
posted by Morpeth at 5:00 PM on September 4, 2010

seconding saucysault's advice about keeping counsel. People can say incredibly weird things in these situations, and you need to be able to keep them at bay.
posted by Morpeth at 5:02 PM on September 4, 2010

"Rolling the dice " is exactly the right analogy. You have to make a quick, life or death, decision about the pregnancy based on your combined best guess about what the best outcome would be. There is no right answer and you will both have to live with the consequences either way. Hospitals do see cases like this quite often and they should be able to provide the counselling services which sublimity mentions. Talk with them. There may also be resources related to the paricular skin disease you mention that you can track down.

Good luck. I was involved in something similar once. It can be helpful to try to take things one day or even one hour at a time.
posted by rongorongo at 5:05 PM on September 4, 2010

I have a friend who had to make a decision very similar to the one you linked to (she and her husband chose to deliver early), about six years ago. The thing she said that has stuck with me is that you make the decision based on the best information available to you at the time. There is no second-guessing because you just don't know exactly what's going to happen until it actually happens. She said she reminds herself of this when she's feeling particularly down about it.

Stay strong and I wish the best outcome for you, whatever you decide that to be.
posted by cooker girl at 5:14 PM on September 4, 2010 [1 favorite]

The only thing you can control is whether or not you go forward with the pregnancy. You can not control whether or not the baby will have a disease.

If you made the decision to not go forward that you would later regret it or second guess yourself? Quite possible since it is the one thing you can control.

If you made the decision to indeed go forward and the child was born with the disease, would you be overwhelmed with guilt? Of course you shouldn't be because it is not in your control, but it's a possibility.

Consider those two possibilities and think about which one you could or could not live with. Go from there.
posted by volatilebit at 5:25 PM on September 4, 2010 [1 favorite]

Whatever you decide will be the right decision, no matter how it turns out in the end.
posted by amtho at 6:00 PM on September 4, 2010 [6 favorites]

In the end all you can do is seek out the most expert advice available and use the information obtained as best you can to understand the odds (which for most maladies are improving on a daily basis).

I remember those times as a hazy whirlwind of doctor visits in faraway hospitals, followed after birth by a much more intense whirlwind of stays in PICU, innumerable post-op and follow-up appointments (I've lost track of how many times under general anesthesia) in faraway hospitals, plus a 911 event and associated ER stay and unscheduled operation which followed. And I've learned that the recuperative powers of children dwarf those of adults. And my experience has given me the opinion that "teaching hospitals" rank above those not meeting that description.

The two of us mutually discarded the abortion alternative fairly quickly (and I have never second-guessed this choice), so didn't confront the question for any length of time, but I can't think of a more personal decision.

I have no creative advice; maybe this is practical, but probably unhelpful: sometimes all you can do is accept that you are not in control and take things day by day. We've been doing so off and on for 13 years, with large quantities of help from family and various professionals, and luck.

Perspective: when your child shares a hospital room with a child who is having reversed the operation which your child is there to get, and which is the only procedure which can ameliorate their life-threatening condition.

Best of fortune to you and your family.
posted by knobby_berry at 8:01 PM on September 4, 2010

Thanks for the all advice. We have the absolute best medical care possible and the doctors & nurses we've dealt so far with have been exceptional. It's absurd, I guess, to count oneself lucky in the midst of having been struck by lightning, but there it is: We're privileged people dealing with an ethical challenge that only the privileged can face.

There are social workers and geneticists we can call on and everyone has been amazingly helpful with putting this in perspective. But I'm still at a loss where the day-to-day grind is concerned. Time has slowed to a crawl. I don't want to check out, but I'm also getting tired of the soreness in my jaw and the twitch in my left eye. I've thought about getting a prescription for sedatives, but it would be shitty to leave mrs. betachat alone with this agony. Also, I have teaching and research and all the stuff of life that doesn't stop just because a fetal blood vessel decided to take a lunch break at the wrong time.

So any other tricks you know of to make the time pass faster or to keep focus in the midst of intense fear and sadness would be a great help to us.
posted by felix betachat at 9:13 PM on September 4, 2010

I am so sorry you're going through this.

I think that at times like this, it is wise to keep in mind the power of math. That probably sounds so weird (and personally I loathe math, because I've always been terrible at it), but what I mean is that you should force yourself to not catastrophize and not follow every what-if down its twisty awful path that steals your sleep and your peace. Rather, you should think about the odds, coldly and dispassionately. If your doctor, whom you trust, says that there is an 85% or 90% (or whatever number he gave you) chance that your daughter will be fine following some surgery, then you need to trust in the math that she will be fine.

The House has the slimmest of odds in Vegas, and yet it always, over the long run, wins and thereby makes a lot of money. That's how math works. Your daughter's odds are likely far better than those of some Vegas casino. If your doctor really thinks she has good odds, then all you can do is trust in (medical) science and math.

Best of luck (and the best of odds) to all three of you. Whatever happens, you will get through this.
posted by Asparagirl at 10:14 PM on September 4, 2010

I have no advice for making the decision, but be sure you've gotten the best medical info you can, including having more than one doctor look at the ultrasounds. A good friend of mine went through a terrible month during her first pregnancy because one doctor read an ultrasound as indicating severe brain damage -- he advised her to consider terminating the pregnancy -- and it later turned out that the ultrasounds were not as clear-cut as the first doctor said. Other doctors in the same practice later told her that the pictures were too hard to interpret. She had the baby, now almost 3, and he has no brain problems as far as anyone can tell.

Moral of the story: if you are thinking about terminating, get a second or third set of eyes on the evidence.
posted by LobsterMitten at 10:15 PM on September 4, 2010 [3 favorites]

No tricks. IMHO you just cannot let yourself think about it all the time. Like I and others mentioned above, you are not in control, so, aside from putting in the time to give full consideration to the one fairly high-level decision that is under your control, and to support your Mrs during that decision-making process and after, I'd say give time to the rest of your life.

In my case (this situation happened with our first child) my wife has a very large and close family, so she had others to lean on. I let my manager know about my situation almost immediately, and he was very understanding and supportive about all of the time off needed, etc., and I continued to work as the demands of the situation permitted, at decreased effectiveness due to the mental distraction and sporadic absences, for the duration (I didn't think about getting meds to help). And I'm sure dedicating some portion of my life to something NOT related to the problem of my child (to be) helped keep me sane.

In your first post you asked "What did you do to keep from eating one another alive?". I suppose there are varying ways to interpret that question, but in any case it just didn't happen with us. Maybe the fact the we're both fairly unemotive and steady just never let such things get started? But if such is starting to happen, the best I can suggest is don't let any bad vibes fester. Clear the air immediately, because if you keep the child, you are in this for the long haul (of course), but with a MUCH higher stress level on you and your relationship than "normal". I believe the statistics are very clear that the divorce rate among parents of "special needs" children is substantially above the norm, and I've observed that first-hand. Forewarned is forearmed.

The pre-birth phase was a matter of getting the (shocking) news, enduring the data gathering phase, making a decision, and waiting. Once that one decision was made, the die was cast, and the path ahead (the decision tree that awaited us) was quite clear even before our child was born. What followed was enduring our child's navigation of that decision tree based on the medical facts present. And then dealing with another birth defect that, due to all the focus on the life-threatening birth defect, was not noticed until around age 2Y. We all just had to get thru it. Fortunately for us, the amelioration of the defect we were aware of pre-birth has thus far been as good as we could have hoped for given the initial conditions, and the other we are dealing with fairly well. I wish the same or better for you.
posted by knobby_berry at 10:16 PM on September 4, 2010

Also, keep in mind that in the US, perinatologists and OB/GYN's and other doctors dealing with fetuses have to be extremely graphic and frank about even very rare potential pre-natal problems, including vague phrases like "it's a possible marker for...", because they run the risk of being sued by the parents for tremendous sums of money for "wrongful birth" if the baby is born with a problem and the parents claim post-hoc that "if only we had known..." My son, now a toddler, had echogenic bowels (i.e. white, reflective to ultrasound) on his 20-week ultrasound, and they scared us good that it could be a marker for all sorts of nasty things, none of which happened and, reading the actual stats online later on, were actually very unlikely to happen. Nevertheless, for liabilty's sake, they had to bring up each and every possible problem it could be, which is so chilling when you're sitting there in the ultrasound room, still coming down off the high of seeing your baby move around on the monitor. So keep in mind that while your doctors are likely good people trying to give you good information, there is a certain amount of legal butt-covering going on there too that biases what and how much they reveal.
posted by Asparagirl at 10:28 PM on September 4, 2010 [2 favorites]

and OB/GYN's and other doctors dealing with fetuses have to be extremely graphic and frank about even very rare potential pre-natal problems, including vague phrases like "it's a possible marker for...",

Yes, this. One of our sons apparently showed markers for not one, but two different conditions. Our OB/GYN practice was pretty much a full-spectrum group, dealing in everything from 100% natural births to the super-high-risk stuff, so from the ultrasound suite, we were walked directly down the hall for an amnio and a meeting with the genetic counselor. Which genetic counselor began her discussion with an immediate injunction: while we waited for the test results to come back, we were under no circumstances to go to the Google for further information on the conditions. We did, of course, and it was a long wait over the weekend for the (negative) test results. We prayed a lot. For strength and patience to deal with whatever was to come for the most part.
posted by jquinby at 6:01 AM on September 5, 2010

Felix, have you talked to your chair about this (or your dean, if you're the chair?) I understand it's the beginning of the school year and the fall term and all that, but it is actually permissible to be human when you're an academic. Can you and/or your boss delegate some responsibilities for a week or two, just to give yourself some breathing room?

Also, about the clenched jaw and twitchy eyebrow: instead of sedatives per se, how about some antianxiety meds? Good grief, if ever there were a situation where you could justifiably invoke Better Living Through Chemistry, this would be it. A little Zoloft every day would probably be a whole lot more helpful overall than, say, a fifth of tequila...

One day, one hour, one minute at a time. Hang in there.
posted by Sublimity at 8:25 AM on September 5, 2010

You mention not wanting to "check out" on drugs and leave your partner alone, but it's possible that balancing yourself out could help take some of the emotional strain off your partner. Just a thought.

One of my mentors' little boy has leukemia, and I remember he would come in for lab meeting occasionally even while he was on FML. He mentioned how comforting he found his work. I think it might help for you to give yourself permission to focus on your work, your teaching and your research and the administrative whatnot. I admire not wanting to "check out", but constantly worrying about your baby is not taking care of your baby. It's okay to throw yourself into other things that can use your attention.
posted by endless_forms at 2:53 PM on September 5, 2010

Sincere thanks to everyone who replied in-thread or by MeMail. It's hard for me to ask this sort of question, but even harder for people to answer from traumatic personal experiences. My wife and I are very grateful for your stories and your advice.

Asparagirl, I get your concern. Alas, our diagnosis was made at the University of Chicago Hospitals and confirmed at Children's Hospital in Boston. My wife had detailed ultrasounds taken in both places and we met with a top surgeon in Boston who has published on the diagnosis and repair of this particular condition. The odds of our baby manifesting the rarer form of the disease are slim, but the risk is definitely there. I think this is less "cover your ass" and more "make the best, most informed decision you can because if you get more bad luck, your life is going to change profoundly."

We're meeting with a geneticist, a neonatologist and our new "high risk OB" on Tuesday. The way forward should be clear at that point.
posted by felix betachat at 9:47 PM on September 5, 2010