Learning to live with uncertainty

I once heard a speaker give a lecture on genetic testing and bioethics. He was trying to respond to a question from his audience - someone was bewildered that a person might choose to not get genetic testing to confirm or deny if they had a fatal inherited disease that was known to run in their family. "Well, I suppose that I might be hit by a semi driving home this afternoon. But if that is what is going to happen, I am not sure that I would want someone to tell me that right now. I don't know that I want to know the hour and means of my death that precisely."

That story has stuck with me through many years, but lately become personal in some new ways. What if someone were to tell me, "You have a highly increased likelihood of being hit by a semi today, but it isn't certain. And there is probably nothing that anyone can do to prevent it, if it will happen. But maybe, if you make the right choices, and you can't know which those are, you could prevent it. But then, it might not happen anyway, so if you make the right choices you would never even know." In the past few weeks, I feel like that is the story I have been told about this baby and this pregnancy.

So, I had a very unsettling visit to the maternal-fetal medicine clinic this week. To tell the whole story, I have to back up a bit, and it may get jumbled. But I need to tell this story somewhere, just to work out my own feelings.

It actually begins three years ago, at John's birth. A week after he was born, he was re-hospitalized for low platelets. He was given an initial diagnosis of an infection, put on IV antibiotics, and we settled in to wait. Very quickly, however, it became clear that he was getting worse (lower platelet counts) despite the treatment. He was quickly transferred to the care of the pediatric hematologists, who instead diagnosed him with Neonatal Alloimmune Thrombocytopenia. This basically translates to "a newborn with low platelet counts due to antibodies of the mother's immune system transferred to newborn in utero, against newborn's own platelets." There is no "cure" other than to wait 2-3 months for the antibodies from the mother to clear from the baby's system. Fortunately, as that happens, the platelet counts can gradually recover. Also, the baby can be given steroids and IVIg to suppress the immune response, both of which John had, along with several platelet transfusions. The risk of not bringing the platelet counts up high enough is brain hemorrhage, particularly if there has been substantial bruising of the head from birth traumas. John's plately level did dip low enough to cause the hospital staff to hit the panic button at one point, but he was fortunately just fine.

The only odd or frustrating point in John's treatment was the lack of a definitive diagnosis. Jeremy and I both had our blood genotyped, and my blood checked for antibodies against his blood. One potential mismatch was identified, but no antibodies, indicating that this was not the source of John's problem. Puzzling. Still, the hematologist looked us straight in the eye and said, "Clinically, John has a classic case of NAIT. He responds classically to the NAIT intervention we have applied. You apparently fall into the 15% of cases where we can't confirm the diagnosis with lab testing, but there is no doubt in my mind that John has NAIT." So, I considered that matter settled.

Thus, as we embarked on this pregnancy, this was all in my mind. I knew, from our consults with the hematologists at the time of John's birth, that this could recur and might cause complications for a future pregnancy. But I was left with the impression that it was a very treatable situation, as long as we knew about it, which now we did.

So, we dutifully informed our OB right away of this issue. She dutifully referred us, right away, for a consult at the maternal-fetal medicine clinic ("high-risk OBs). Still, she did so amidst assurances that this shouldn't be a big deal, since John was just fine.

Then, 2 weeks ago, we went to the clinic. We started with Sherise, the genetic counselor (their standard procedure). I didn't think she had known much about NAIT, but she had clearly been doing homework for us. She appeared to have been getting current in the research literature. She was able to confirm my expectation for treatment - likely IVIg for me for the second half of pregnancy, to suppress my immune system in hopes of preventing transfer of antibodies to the baby that might be attacking her own platelets. Birth options (vaginal vs. C-section) were up to the doctor; either was possible. Finally, she reported that her research indicated that we had a 90% likelihood of a recurrence of NAIT, and it would most likely be more severe than in a previous case (with John). This was discouraging, and surprising since the genetics, at face value, seemed to indicate a 50% chance of recurrence (either the mismatch or not the mismatch). She agreed that she couldn't explain it from the genetic testing of Jeremy and I, but that was what she concluded from her research. Finally, she went on to entertain herself and us with some genetic mapping of our family trees. Nothing I hadn't learned how to do in high school genetics class, but it filled in her file and at least spoke to her thoroughness.

Next, we had the ultrasound, which was thorough and of course thrilling if not particularly informative beyond, "The baby is growing well so far."

Finally, we saw Dr. Z at the clinic. Unfortunately, she did not inspire confidence. As far as I could tell, Jeremy and I knew as much about NAIT as she did, based on our few hours of internet research (WebMD and the like). First, she pooh-poohed the whole thing. "Well, you only have a 50% chance of recurrence, first of all." I protested, pointing out that the genetic counselor in her own office had just told us 90%. She stared at us as if we were idiots. She started to explain the "one gene from mom, one gene from dad" to us. "Yes, yes, we understand that. We just had this conversation with Sherise. She told us 90%, anyway." Okay, that was the end of that unfruitful discussion with Dr. Z. 

Next, Dr. Z said, "Well the standard treatment would be IVIg for you, as early as 20 weeks gestation. But that is very expensive, and requires weekly infusions. You had such a mild case last time, I am not going to order that for you."

I blink, trying to absorb her recommendation and sort out the real reasons. "Oh, okay. But, why do you say mild? Yes, John didn't have a hemorrhage (Thanks be to God!). But, he had a remarkably gentle birth, so no bruising at all. He was 2.5 weeks early, and by 1 week before his due date, his platelet levels were low enough to send the peds hematology floor staff scrambling at 5 AM. And Sherise just told us it would likely be worse with this pregnancy."

Now, Dr. Z blinks. I am not clear as to whether she is stunned that we are questioning her advice, or whether she is scrambling to come up with answers that sound authoritative on a topic for which she is less than an expert. She punts. "Why don't I consult with Dr. C (the pediatric hematologist who treated John)? andl get back to you."  Fair enough. I certainly would want to encourage consults.

Jeremy asks about her recommendations for the birth itself, since the prospect of a C-section has been weighing on me. If we are to have one, I want to just know it and start adjusting my expectations for that. She is adamant that she only delivers NAIT babies by C-section. "Does it matter that I have very easy deliveries? They are quick and unmedicated and uncomplicated. My regular OB, Dr. R, thought that might end up being less trauma than a C-Section, if all could go well vaginally." No, Dr. Z really doesn't see this as a possibility. She mentions the horrors of suction and forceps and the damage it can do to the baby's head and you wouldn't want to bruise the baby. I stare at her, wondering if she is actually hearing anything I say. Suction? Forceps? I have been through 3 births without any of that every being mentioned. Why would we assume to start now? We decide to leave this conversation for later in the process. We leave the appointment with promises of a follow-up phone call from Dr Z, or else more info at our next appointment in 2 weeks.

Dr Z is faithful in calling, that same afternoon. She called me to report on her conversation with Dr C, the pediatric hematologist. I listen to her report and end up feeling like I am now caught in the three-way triangle  between Sherise, Dr. Z, and Dr. C, who all have their own stories and own recommendations but none of whom has all the information. Dr Z had Dr C look up John's case history. Dr. C reportedly said:

1. John had a very mild case of NAIT
2. Genetic testing of Jeremy and I revealed a "nonspecific immune response"
3. IVIg treatment for me is not necessary at this point.
4. My blood should be periodically checked throughout the pregnancy for antibodies against Jeremy's blood. If any are found, then we might re-evaluate and start IVIg treatment for me.
5. Dr. C thought that a vaginal delivery would be very reasonable, but that the OB should take a scalp sample of the baby during delivery and check the platelet count. If it were very low, then maybe we should switch to a C-section.

Dr. Z concluded with, "But, as I told Dr. C, we don't do scalp samples anymore. They just weren't that reliable. I don't think we even have the equipment anymore."

Wow. So much there, I don't even know where to begin. My questions started pouring out. Dr. Z seemed to cut me off, and I wasn't sure if that was because she didn't really know any more than what she had told me, since Dr. C was the hematologist, or if she just didn't think my questions were worth answering. I finally gave up, thanked her, and started writing down a list for my next pre-natal visit at the clinic. I was hoping to draw a different doctor from the pool this time and maybe get one with a fresh perspective.

So, I wanted to know:

1. How do you determine that John's case was mild? Yes, he had no hemorrhage, but he also had no bruising. Yes, his platelet count at birth was low but not dangerous, but one week after birth (still a week before his due date), it was dangerously low. If this pregnancy gets worse, that could be very serious.
2. Why does he not recommend IVIg for me? Is it because the case is "mild?" Then I am back to question 1. Is it because IVIg is just not effective for a "nonspecific immune response?" Then what is that, exactly, and what does it mean?
3. How does checking for antibodies in my blood make a sufficient trigger for starting IVIg treatment? I had no detectable antibodies in my blood at 1 week postpartum with John - the same time that he apparently had enough antibodies to reach dangerously low platelet counts. What makes Dr. C think the antibodies will show up in my blood this time if the baby is in danger?
4. Thank goodness the OB rejects the scalp sample already, because I would. There is so much wrong with that! (That would require breaking my water to get it, which removes the natural cushion for a gentle vaginal birth! Also, John was born in 2 pushes. By the time the sample is collected, this baby will be born. Don't ask me to cross my legs for 2 hours while the lab downstairs runs a platelet count.)

I did my best to suppress my eagerness for answers, and decided to wait patiently for the 2-week follow up consult at maternal-fetal medicine. As a new doctor walked in, I felt hopeful. Maybe here is the new perspective that we need, I thought, as I introduced myself to Dr. W.

Dr. W, unfortunately, quickly took the wind out of my sails. "Here's the good news! Your lab tests from 2 weeks came back (it takes 8-9 days to run the test) - it was fine. You have no antibodies. So, all clear for now. We will retest in 6 more weeks." That was the end of his story. Fortunately, he was very receptive to questions, and we kept him nearly an hour with ours.

Me: "Why not the IVIg?"

Dr. W: Well, look, we don't really even have a diagnosis of NAIT here. IVIg is very expensive, has some potential side effects of discomfort for you, and we can't measure if it is even working because we have no evidence of the problem.

Me: "But Dr. C (actually, his partner, Dr. M), the hematologist, looked me in the eyes 3 years ago and said, 'Clinicially, there is no doubt in my mind that John has NAIT.'"

Dr. W: Well, we can't prove it by a lab test. It is a hypothesis. It may be a good hypothesis, but it can't be a diagnosis without proof, so I can't treat you for that.

Me: "So basically, are you saying, 'You are dismissed. Go off and have a normal pregnancy - we aren't going to do anything at all'?"

Dr. W: Well, no! We will check your blood for antibodies every 8 weeks (for the remaining 19 weeks of the pregnancy).

Me: "But that didn't show positive, even when John was having clear clinical symptoms."

Dr. W: Well, there isn't anything else we can do. I mean, we can watch the ultrasounds for signs of a hemorrhage, but then all we see is the possible evidence of a past brain bleed, when the damage is already done. But I can't give you the IVIg for something we can't confirm that you even have.

Me, thinking to myself: "Alright, is this good medicine, or is this financial medicine? I know the IVIg is expensive, but this is MY baby at risk."

Me, out loud: "So, that is it, then. Go on, and hope for the best."

Dr. W: Well, I can give you a referral to talk directly to the hematologist again. I can give you a referral to another maternal-fetal medicine doctor for a second opinion. But I have already consulted with my friend, Dr. Ms (in Texas), and he concurs. And he is the best I know of for this condition.

Look, I know this might sound cavalier, but go ahead, have those consults if you want to. Then, you have done your due diligence. You have gathered as much information as you can. And the reality is, sometimes, we just can't know. So then, you just have to absolve yourself of the guilt if things don't work out well. That's a hard statement, but it doesn't stop for a parent after the child is born. In fact, as you get older, you find you have to do it more and more, for your kids and even for your kids' kids.

Me, to myself: WHAT?

I gathered myself to leave before I broke down in tears. There was obviously no help on this front for my baby. Now I just needed to get out of there as soon as possible and figure out what was left to do.

I rode home in silence, assessing my situation:

1. I am pregnant, 21 weeks, with a beautiful, kicking, wiggling, perfectly formed, wonderful baby girl.
2. She may, or may not, have a condition that will cause her platelets to dip to dangerously low levels at any point between now and her birth.
3. There is no way I can know whether she has this condition, nor if so, how severe it is.
4. If she has it, it could easily be fatal, either in utero or shortly after her birth.
5. The only possible intervention (IVIg for me) costs $2,000 per week, from whenever we start it until her birth (currently due 19 weeks from now).
6. The doctors with the power to provide that IVIg won't do so for me, and I ultimately have no way of knowing if that is because
1. They don't really think it is necessary
2. They don't really think it would be effective
3. They just think it is too expensive given the chance that either 1 or 2 could be true.
7. I would submit to anything, including paying for the medicine myself, if I could get some assurance from someone (anyone?) that it might improve my baby's chances of survival.
8. No one will give me any such concrete information.

And so, a dark cloud has settled. I used to cry at Hallmark moments, because pregnancy hormones would just do that to me. Now, I cry instead in all the quiet moments on my own, because I feel so scared and helpless. I know stress and worry are bad for the baby. But I don't have a luxury of unlimited time. If there are actions that need taking, I have to take them before this clock runs out over the next 4.5 months. I don't know if and when that alarm might go off, so I don't actually know if I have less time than that. I don't know my next step. And I am far too hormonal to make fair, rational decisions about justified health care (treatments, expenses, etc.). I feel very alone. I knew it might be hard to be without Mom during this pregnancy, but now I feel it to a degree that I never expected. Somehow, I just feel like she would know what to do. She would find someone with an answer. She would figure out a better plan. I know that is probably irrational, but it only underscores how alone I feel about all these things that I have to figure out.

Of course, God had instructed us not to worry. But he also has never promised us health and wealth, either. He only promises to be with us, through it all. Job has been very much on my mind over the last week. Job's faith never wavered. He always trusted that God was with him. But did that take away the soul-searing sting of losing every loved one he had? Of course I recognize that just as I can't add one day to my life, or my baby's life, through worry. Still, how can I not worry as I face the possibility of a future so much bleaker than we have been preparing for?

I am trying to stay positive. I think back to that first dreadful week, when we thought we would lose this baby to miscarriage. I remember the day I had a change of heart, when I was able to entrust this baby to God, and at the same time, resolve not to give up on her. I still am resolved to never give up; to fight for this baby with everything I have. But what, really, do I have in this case?

And so, I find myself thinking positively, but also simultaneously steeling myself for the alternative outcomes. I am preparing a maternity leave plan with my department chair, but constantly in the back of my mind is, "What happens if the baby dies and I have a stillbirth at 8 months? Do I lose my medical leave, but with no classes scheduled for me to teach, also find myself with no job and no income for the spring semester?" I can't really think of a rational way to ask a question like this, but I also can't quite get it out of my mind.

I was at Toys-R-Us today helping Maggie pick out a birthday gift for a friend, and passed the racks of summer clearance clothes for babies. This was the first time I've been in a store since I found out we are having a girl, and I was drawn to the racks of frilly sundresses, wanting something to save and hold as I wait for this baby. Then, I turned and walked away, afraid to buy something that would linger if this baby doesn't live to see next summer.

Through it all, I find myself curiously unable to pray. I guess I don't know what to pray for, because I don't know God's will and I am not now able to pray for His will to be done if that means losing this baby. Usually, in this situation, I can at least turn to others to ask for prayer on my behalf. But this story is so long (as you know if you are still reading). I can't exactly phone it in to the church prayer line, or explain it over the coffee after the service. I do take comfort in the prayers of the kids. We haven't told them anything of this situation, but somehow they have been worried all along. Maggie's bedtime prayers regularly include "please help the baby to grow and not die," which breaks my heart at the same time that it heals it.

So, I guess that is my prayer for tonight, too. God, please protect this little life that is growing so quickly inside me. Please give Jeremy and I wisdom to seek and find and know the right course of action for medical care. And yes, please be with us all, even as you were with Job.