Our Positive Serum Screen for Spina Bifida

Almost immediately following my last post, I saw the substitute doctor instead of my usual family doctor who has been managing my prenatal care to this point as my own doctor was (and still is) off work sick. That appointment changed our lives in ways I am still unable to unravel completely.

I began the doctor’s appointment noting I had four things I needed to mention and not forget. The doctor said “okay, tell me those and then I’ll tell you why I called you in.”

What? Nobody told me he had called me in. My doctor’s nurse told me my own doctor didn’t want me to miss a prenatal appointment, nothing more. Why didn’t someone warn me there was something that a doctor wanted to discuss so I could do something other than attend this appointment alone and be blindsided by completely unexpected bad news (because they never “call you in” to celebrate your innocuous test results, do they?).

The short version is that I had tested positive for elevated alpha-fetoprotein (aFP) in a maternal serum screening test, meaning I “tested positive” for a “relative risk greater than the comparable population” for Spina Bifida. For anyone of you who have had screening tests you will know that a critical piece of information when reviewing results is what that “relative risk” is – i.e., where your numbers lie relative to that comparable population. The doctor breaking this bad news had no idea what those numbers were because my doctor had not shared the actual report or results with him, just that he needed to get me in and obtain my consent to refer me to a perinatologist as soon as possible given I was am already 17 weeks and, if the screen is correct and the case severe, we may be facing some very difficult decisions.

I was angry that this doctor was behaving so irresponsibly – giving me potentially devastating news with no particulars to allow me to assess how bad it could really be. I told him as much in no uncertain terms. He apologized profusely and it occurred to me that this was not his fault and shooting the messenger was accomplishing nothing. This was my doctor’s fault. She screwed this up. She had those results last week and could have called me then. She could have given him the results. He was accountable for none of that and trying to do the right thing in very unfortunate circumstances. I let him off the hook.

And then I began to cry. Uncontrollably. He seemed surprised and utterly ill-equipped to manage this new development. [Remember, I said he looks like he is in his early 20s. He isn’t but he is very young and prenatal care is not his area of preferred practice – he could barely manage the Doppler, for heaven’s sake.] He said “this does not mean your baby has Spina Bifida. It may not. We need to do more testing to be sure.” I explained that I understood that but what he did not know about me and this pregnancy is that I am already very high risk due to immune issues and that this is not my first bit of bad news to absorb into an otherwise uneventful pregnancy; it was one piece of incomplete, terrifying news that had suddenly been heaped – without warning – on top of a hundred other stressors in a very stressful and risky pregnancy.

Then I proceeded to fall apart completely all the while asking my various responsible medical questions informed by my years of practicing medical malpractice defence, my years of recurrent pregnancy loss and my recent foray into a lay person’s grasp of reproductive immunology. The doctor was of limited assistance and just kept circling back to unhelpful explanations of what “relative risk” means and the fact that only the perinatologist would be able to answer my substantive questions so I needed to see him or her even if we ultimately decided not to do amniocentesis or consider termination regardless of outcome. I asked for the referral, was told there is no way of knowing when we will get in to see this person but that presumably it has to happen before I am 20 weeks pregnant (I’m 17w1d today by gestational age) because 20 weeks is the cut-off for legal abortion (termination for medical reasons in this case).

I really hate it when doctors (and lawyers) faced with terrible circumstances and options for their patients/client lay out their next steps and then say “does that sound fair?” This doctor did that. Did it sound fair? Are you freaking kidding me? None of this sounded fair. Have the LP and I not suffered enough? How can this new development or anything that one might propose to do about come across to me as fair?

I stared blankly at him for a moment, as if to consider whether he had really just asked that question. “Does that sound fair?”

There are hills on which to die. The fundamental injustice of “this” – all of it – in that moment, with that complete stranger, was not one of them. “Sure”, I said.

Then the doctor left me in the examining room, lying on the examining table ready to have my fundal height measured and fetal heart rate checked with the Doppler, while he went looking for the Doppler, saying he would be right back. The nurse came instead and said it would be a few minutes, they could not find the Doppler. Noting my state, she asked if I was okay. This was a nurse I’d never met before and had to educate upon my arrival about the fact that I needed to have a urine test done to check for proteins. I said I was not alright but thank you. She asked what was the matter and I said I had just been given some very scary news. She asked if I needed anything, I said no (another question that’s meant to be kind but really, how does one answer that? “Do you have any extra magic wands handy?”) .

The nurse left. I waited. And waited. And finally, I called the LP to ask him to be near his phone so I could call him after the appointment was finally over. I did not plan to tell him right then what the doctor had told me but he could hear in my voice something was very wrong and I could not lie. I said I could not talk, the doctor would be back right away, but I promised to call right afterward.

When I spoke with the LP in more detail later – as I sat breaking down completely in the clinic’s parking lot for over an hour until I felt safe to drive – I told him the doctor was referring us (me) to a perinatologist and that I also got a requisition for an ultrasound to see if we could identify any abnormalities already even though it was at least a week early for an anatomy scan. Right away, there was discussion of termination for medical reasons. I said I could not go there right now, I knew it was a possible reality but I did not know enough about the four types of Spina Bifida, the test results, the realistic chance this could be a false positive, and the options for life if we had a child diagnosed with Spina Bifida who would not have the most severe form or forms to make any kind of informed decision and therefore I did not want to go there right now. The LP is a “futerer” – always envisioning the worst when bad circumstances strike – and I tend to do that too sometimes so I am mindful of the need to put on the brakes when things like this happen and they matter a great deal.

Tuesday was a nightmare. My head did not stop pounding despite Tylenol for the next 14 hours. Many tears were shed and as many stifled. Anxiety reached a new high. Wise fellow reproductive-immunology patient friends and my common sense finally led me to ask Dr. Braverman for his and/or his research team’s help. I also searched my soul for my lines in the sand about TFMR and raising a child with disabilities the extent of which would likely not be known or known fully until after birth as older parents with a living child. I thought about where those lines would be drawn for me, irrespective of where the LP might want them drawn. I asked God why this was happening. Was this a test? I came to some decisions that I am not ready to share here and I came to the conclusion that some part of me needed to engage in this exercise of love and pain – and a whole new scheme of loss – to bond with this baby, no matter what happened.

Wednesday started out poorly. I had hardly slept, I was awash with anxiety, I had to give a presentation and attend two others for the two hours preceding the ultrasound and I had not had the presence of mind to complete my preparation for my presentation to the extent I would have liked. I wished the ultrasound was first thing in the morning (the afternoon was the first available appointment they had). The ultrasound technician said “We have to stop meeting like this” in an effort to lighten the stifling air in the room when the examination was about to begin. I pretended to laugh. I wanted to curl up and die.

The scan had several component, was done by two different technicians and took almost 90 minutes. They could not tell us anything substantive and we did not ask because they had been so kind and we knew their prescribed limitations. I asked if we could speak to the doctor who would be signing the report at the end, explaining that my doctor is still away sick for an unknown time and we are clearly very anxious given the positive serum screen result. The senior technician who had done our Nuchal Translucency and one other scan in the first trimester said yes, he would speak to the doctor and they would both come back and speak to the LP and I after everything was done.

The doctor – covered in a bright red custom-made lead apron with the Spider-Man logo on his chest – said that although the scan was early for an anatomy and anomaly screen and although baby had been very active (making things more complicated and take longer), they could see no evidence of abnormalities with the spine or any other structures or organs. The exam was not perfect but they got good images and were able to visualize the important components they were looking for. He recommended that the exam be repeated in a week when I am 18 weeks and said that if something showed up or was questionable then, he would refer me to a perinatologist. I said we were already waiting on a referral to one and he said that was probably wise even though he saw nothing to suggest the positive screen result was indicative of Spina Bifida. We are booked to have the next scan at the same clinic on January 29, 2015 (next week Thursday).

On the subject of contacting Dr. Braverman. As much as I struggled with his demeanor and ego in all of our early interactions, I have nothing but kind words to say and tremendous gratitude for how he handled my email about this screen result and my request for any research he or his team might have about possible immune explanations for the elevated aFP, should there be no evidence that our baby actually has Spina Bifida on the then-upcoming ultrasound. He asked me to give him a day to respond substantively then did his own research between 10 and 11 pm on Tuesday night and sent me the results and his analysis and a very kind and reassuring note saying my anxiety level (emotions aside) should remain low, he believed this result was a function of my systemic inflammation and possibly high prednisone levels and more likely than not to be a false positive. I will write more on this in a future post and the research in particular in case it may help others. For now, I owe my great thanks to everyone who has been here for me the past few days. Thank you.

I am so grateful. For so very much. We are not out of the woods, but I am so grateful we are still walking through them.

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31 thoughts on “Our Positive Serum Screen for Spina Bifida

  1. Oh, I want so badly to give you a hug. I am so sorry you’re having to deal with another huge scary thing. I love Dr. Braverman’s response, though–lots of hope and logic in that message. You can’t beat the combination of hope and logic. Thinking of all of you.

  2. The spiderman apron completely threw me off, as I’m sure it did for you while you anticipated the doctor’s arrival in the room. I’m so very sorry that you have endured such a heartwrenching and anxiety ridden week. You have put so much effort and love into bringing baby Azulito home. Your feelings are completely and utterly expected at this point after all you faced before the potential positive screening result. I think reaching out to Dr. B was a great idea. I hope his hypothesis prove to be true and your baby will be born safe, healthy and happy. Sending much love and light to you, your husband, miracle toddler and baby at this time. ❤

  3. Oh my God. When I first started reading your post I wanted to quit life. Because WTF!? Seriously, false positive or not, just getting that news alone that your child might have spina bifida is completely unfair. Beyond unfair. No one should ever, ever have to get that news, but especially not after everything you’ve been through. I am so relieved that it seems like it’s like a false positive. I hope you get confirmation of this at you next ultrasound. I am so sorry you are dealing with this on top of everything else, my friend. It’s such utter bullshit. Know that I am sending you and A. tons of love and positive thoughts.

  4. I seriously cannot believe this is happening to you. I am so very sorry that you have to deal with this. I truly hope this is a false positive and that you find that out soon! I am sending so many prayers, love, and light. You and your family remain in my thoughts. ❤

  5. This absolutely sounds like a false positive. Deep breaths, I know I can see the light at the end of this tunnel. Your primary medical team (Dr. B aside) is like an instruction manual for how not to practice medicine and for that I am so incredibly sorry.

  6. I am saddened to read this horrible experience you are going through. I understand how it is to be in that scary place and wish nothing but the best for you. Hopefully Dr. Braverman will be right. Those tests often seem to cause more false positives and worry than necessary, especially for people who have already suffered.

  7. Seriously I was stunned when I read this. I still can’t believe nobody told you about this important.. Frustrating.. I can’t even imagine what your both going through. Sending you many hugs… Sending you prayers as well.. To you and baby..

  8. Oh hon, I’m so sorry you have had to deal with this scare on top of everything else! I had a very elevated AFP with my second trimester screening with Holdon. We were terrified and had an amnio and well as you know, Holdon did not have Spina Bifida. After the fact I was told that the chances of having a false positive goes up the older we get and happens a lot in women over 35. I was only 33 at the time. So being over 35 with my most recent pregnancy, I opted out of the AFP screening this time around. I just didnt want the stress of another false positive. Praying it’s a false positive for you too and that everything is perfect at your followup scan. Sending you a huge hug hon.

    • High aFP is also frequentky seen in patients who develop preeclampsia and HELLP actually. I will write more on this later but that should have been a flag in your case as it is in mine. Thank you for everything.

      • Actually, yes my doctor did say that it could have been an early sign of an issue with the placenta which is believed to be the cause of why I got HELLP. I really hope this isn’t the case for you and pray you will be monitored like crazy to make sure you and baby are okay!

  9. The anxiety you’ve been holding on to for so many days must be crippling. I am so very sorry that you have to face this particular hurdle, after the many you’re already facing. There ought to be a get out of jail free card at some point. I am sending you, the LP and azulito so much love that things will turn out well.

  10. I’m so sorry you’ve had to go through this, I can’t imagine the heartache. I’m
    wishing and hoping that your scan comes round quickly so that you can get the false positive confirmed.

  11. Super scary situation. You must have very broad shoulders to deal with all of this. I feel like it’s just one thing after another! I’m thinking of you guys and hoping and praying that you will deliver a happy and healthy full term baby.

  12. I mean seriously- how can you be put through so much?? It all seems so unfair yet here you are surviving and hopefully one day thriving. Thinking of you. Xo

  13. I don’t even know what to say. I guess I got very lucky in where my life-threatening complications landed with such excellent care, and since then I’ve had the luxury of going to whatever fertility doctor I wanted and trusting them.

    I would give your doctor a chance to explain, since you’ve been with her and know her so well. Maybe she thought it was no big deal? Maybe she didn’t know about the results? I don’t know. It seems bizarre that she wouldn’t call you, or explain, or at least want to be there. She didn’t even call you??? My god. I can’t imagine. I’m so sorry.

  14. I would not freak out about that test. My sister had a positive on the same test and Dalaney was born 3 wks early and perfect. In fact the little two year old diva is asleep in my family room right now. She is here visiting with my mom for a week. My sisters ultrasound showed no abnormalities. Keeping you in my prayers ! Trust God to work it all out xoxo

  15. I am so sad and sorry to read this! False positive or not, nobody should have to deal with this or even have to think about any of this. I have been in your spot before getting this kind of information and the devastation is really unspeakable. I am so so hoping that this is a false positive and that in a week all of this will seem like a really vivid nightmare. Hugs.

  16. I am so sorry you have been going through this pregnancy with such anxiety and fear. I wish that your next scan brings more peace for you and LP. I wish that the rest of this pregnancy gets easier for you! Praying for you and Azulito/a

  17. This is the last thing you needed. I hope that the perinatologist is able to rule out spina bifida quickly. I really hope its just a false positive, and that Azulita is developing fine. I am sending you calm vibes. Thinking of you.

  18. This is scary, but everything I’ve read about these screenings says that even a ‘positive’ is often still a really remote chance, like 1%. I’ll be hoping for more normal scans and peace of mind for you. Hang in there!

  19. I don’t have much timr right now but I wanted to let you know that with my 7 year old, we tested a 1 in 12 risk for open neural tube defects (such as SB). I was in a STATE. And his spine was and is beautiful and fully functional and closed. We waited a torturous week or two for a level II screen, and relief was so sweet. But the quad screen has such a high rate of false positives, I am grateful we didn’t need to do it this time. Anyway, I hope you are feeling reassured by the scan results. It’s agonizing. XO

  20. Pingback: Rambling : almost 35 weeks | Dear Noah

  21. That scared the crap out of me and my anxiety went through the roof. I know how long your family has wanted Azulito/a to be a part of. Im glad to hear that more likely than not, it’s going to be ok. Im sending prayers and love your way. Always.

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