What Does That Even Mean? (On Dealing with the Doctors)

By Taylor Newman on Thursday, October 22, 10:27 am EDT

The day before my wedding, and two hours before the wedding rehearsal, I was driving back from picking up extra wedding favors when a nurse called to give me the update on my pregnancy blood work. No HIV, no STDs of any kind, no this no that.

“Great… Excellent…,” I chirped. I knew this stuff.

Then she said, “You did, however, test positive as a carrier for Spinal Muscular Atrophy.”

I pulled over.

“What the hell is that?”

She said that the chances of my partner carrying were slim; they just needed to get him in and test him. Could we come in tomorrow?

“I’m getting married tomorrow. I’m in New Hampshire.”

“Can you hold?”

“No, wait! What” -- Musak. Endless, excruciating smooth jazz.

I was crying. Whatever it was that she’d said sounded bad, and I was stuck on hold.

When the nurse finally picked up again, she said she wanted to put my mind at ease and get my husband’s results by the end of our honeymoon. She sent us to a lab nearby, where we squandered an hour before they realized they couldn’t take his blood because the lab to which they’d send it was closed for the weekend.

My parents’ house had by this point filled with relatives. Once back from the lab, I raced past them and into the bathroom to splash myself with cold water and apply some mascara. My aunt, a physician’s assistant, knocked, and I told her what had happened.

She scoffed, “Psh. Don’t worry about that! People have been carrying this genetic stuff for centuries without even knowing it. This business of making babies has gotten excessively thorough. You have nothing to fear. Forget it. Hell, when I was pregnant with Will” -- her 16-year-old son -- “the doctors told me there was an eighty percent chance he’d be ‘incompatible with life’, that his lungs would collapse and he’d die at birth.”

“Okay, wow.”

“Go out there and get married. Don’t give it another thought.”

We later found out that my husband is not a carrier for SMA, but that was after the doctor’s office had us meet with a “genetic consultant” who hardly looked us in the eyes, and immediately began drawing pictures of genes and mapping out our family trees, and telling us that we ideally would have gotten DNA screened before conceiving.

Come on.

After this, I decided that my aunt is right. Our baby-making culture is overly thorough. I love seeing the ultrasound pictures of my growing baby, but I don’t love being shuffled from room to room and hearing a bunch of garbled medical euphemisms for “Your baby is healthy” every time I go to the doctor. It’s ridiculous to be told that I have a 1 in a million chance of delivering a kid with Downs Syndrome and that this next test will further reduce that risk. No it won’t! It’ll just give me another number. The fact is, the kid is coming, and he’s fine, and there’s not a whole lot the doctors can do right now except observe the process. I’m glad the medical system is there to intervene if things get complicated, but I think the system has complicated what’s usually a pretty straight-forward process, and I am personally taking an internal, mental stand against that.

Of course I worry about totally absurd things (I just got stressed out -- did I harm my baby?), but I’m going to enjoy this pregnancy, enjoy the fact that my body knows how to do this miraculous thing it’s doing. I’m not going to neglect my doctor’s visits, or ignore any medical advice, but I’m educating myself about all of my options in the coming months, and the next time someone’s not looking me in the eye while talking about my health, or the health of my baby, I’m going to (politely) call them out on it.

Have any of you experienced something similar? Have you shifted your approach to, or attitude about, your pregnancy midway through? How do you stay connected to the miraculous aspect of what’s happening in the midst of the technical swell?

I’m looking forward to hearing your take on this!

Colleen

Amen. It's totally

10/22/2009 at 11:11 am

Amen. It's totally exhausting with all these tests.

Crystal

Kudos to You!

10/22/2009 at 1:51 pm

You've just learned a lesson I didn't learn until my son was three months old...educate yourself, take action when your gut tells you that you should, and don't sweat the rest of it. Some times we just have to let things happen the way they are going to happen & not try to change something we can't change. Welcome to the boards & good luck with the rest of your pregnancy & beyond.

Candice

we learned this the hard way

10/22/2009 at 2:59 pm

I'm 8 months pregnant with my 1st, a baby girl. When we went in to find out the sex at 20 weeks we were told that the baby had a chroid plexus cyst on her brain. Apparently now that they are doing ultrasounds on much younger babies, they are seeing these cysts on a high precentage of babies, something like 10 - 20%. Unfortunetly, these cysts used to be a marker for trisomny 18 (sp?), along with other defects. The doctor is legaly obligated to tell you that you are now at an increased risk of this disease, even though the medical powers that be now believe that as long as there are no other markers it is highly unlikely. Even though everybody was super nice, and kept reasuring me that they had never seen a baby like mine, with only a cyst and no other markers have trisomny, and that if it was up to them they never would have told me; it was still awful. Trisomny babies don't live. And being told that just made the two months until we went back at 28 weeks, a living hell. It felt like my whole world just stopped. When we went back for the next ultrasound, it turned out that the cyst had closed up, and that our baby girl was not only perfect, but ahead of schedule on size and weight. I felt like I could breathe again. The dr. who did the ultrasound said that since ultrasounds are being done so early babies aren't even developed enough to tell definetively that there is really a problem. All they can say is just that there is the possiblilty of one. She said that she felt terrible about scareing mothers unnessesarily. I think that they just have to tell you so early on in case you want to terminate, there is nothing that they can do medically at that point anyway. The take home message? I will NEVER have another ultrasound before 28 weeks again. PERIOD. The stress of what could be is just not worth it.

Taylor Newman

Re: we learned this the hard way

10/22/2009 at 3:18 pm

Hi Candice, Thanks so much for sharing your experience here. I'm so glad your baby girl is healthy after all! I really relate to what you went through, too, and I'm sorry you had to go through it. We had to wait to get my husband tested for SMA until after the honeymoon, and then the results took two weeks to come in (I called the lab directly on the first day they could have potentially been available-- I wasn't waiting for the doctor's office to get around to relaying the information). Our wedding was a blast, and our honeymoon was wonderful; we just relaxed, cooked, mused about the baby... My husband was not worried at all, which helped a lot, but yes, the mere possibility-- the fact that the possibility existed at all-- was pretty torturous (SMA babies don't live, either). Once I got the results, I really could breathe again! What you've pointed out about the technology is true, too. They can see a lot more now than in the recent past, and although initially detected 'symptoms' are often vague and not definitive, doctors are obligated to tell us what they know. Unfortunately, that old adage is often the case: The more you know, the more you know you don't know. It's hard to take this to heart and practice it if you're waiting to hear about the health of your baby, but I really encourage all moms-to-be not to panic if something like this comes up. Doctors tend to put things in negative terms. Like: there's a 1 in 5 chance the baby has ____. But that means there's a 4 in 5 chance that the baby does not have _____. They just tend not to say it that way. Stay calm and try not to worry. It's good practice for later (right moms-with-teenagers?)!

Mommyincincy

Welcome Taylor!

10/23/2009 at 1:53 pm

Hi Taylor, Thanks for sharing your story with us. My "baby" is now 6.5 years old but when I was pregnant with him I also expereinced some moments of worry and needless fear due to all of the prenatal testing. When I was 17 weeks pregnant I had blood drawn for the Triple Screen test and was just told by the nurse that "it was a normal test and I had to have it". Man, I wish I had been better informed beforehand because that was certainly NOT the case. Anyway I got a call two weeks later at work at almost 5pm on a Wednesday night telling me that my bloodwork was back and "not normal" and they needed to see me right away (she wouldn't tell me anything more over the phone). I wanted to go into the office right then but they were getting ready to close and she insisted that the earliest they could see me was 10am the next day. That was the longest night of my life. All I could do was cry and hug my husband and imagine the worst. So the next day when we finally got to talk to the doctor we found out that my odds of having a baby with Down Syndrome were 1 in 40, which was a considerably higher risk then it should have been for my age - I was 25 at the time. As I'm digesting that news the doctor coldly tells me that I "have to have an amnio quickly if I want a definitive diagnosis since I was 19 weeks pregnant and would have to terminate before 21 weeks". Those words still make my cringe now 7 years later :-(. I cried even harder and my husband told the doctor to leave the room. After a lot of soul searching we proceeded with the amnio so that I could be prepared if we had a special needs child. For me the unknown was the scary part. The amnio itself wasn't too bad but the two week wait for the results was agonizing. Finally two and a half weeks after I got the frightening call from the doctor's office we found that we were having a baby boy with normal chromosomes! I cried that time too, but tears of joy. After the whole debacle I decided to switch doctors and did tons of research and found out the Triple Screne test (also called the AFP test) is NOT mandatory and there is a lot of controversy surrounding it. I should have been more knowledgable about the test beforehand, but I also felt like I had misled by my doctor's office and the whole thing was handled poorly. After we got the amnio results I switched to a much more supportive OB and the rest of my pregnancy was fairly routine. It is a shame though that so many pregnant women face these scary ordeals though. Scientifically I knew that there were good odds that my baby was fine, but when you are pregnant and hormonal it isn't always easy to think rationally. Okay sorry for the rambling message! Welcome and best of luck with your new baby boy! I grew up with two sisters and have had a lot of fun with my little guy! Mandy P.S. Ignore the poster above me - you do NOT look older than 24 and you are adorable!!!!

Taylor Newman

Re: Welcome Taylor!

10/23/2009 at 3:18 pm

Hi Mandy, Thank you for your warm welcome and also for sharing your story. I'm so glad everything worked out for you and your family! Being pregnant for the first time, especially at a young-ish age, we of course want to do everything right our growing babies; it's totally new territory, so at first it's natural to just sort of blindly do whatever the doctors say to do. I also found out after our ordeal that SMA testing is controversial-- it;s very new and since the disorder is so rare, it's being evaluated for whether it's worth it in terms of cost/benefit/accuracy. One of the big differences between your story and Candice's, and mine, is the way in which you were addressed and treated by the medical staff. Candice's doctor and nurses were compassionate, whereas your doctor was cold. That makes a big difference. Of course, no one likes to be the bearer of bad news, and I think some people steel themselves against that task by closing themselves off to the human element in all of this-- but pregnancy is one of the most intensely raw and human experiences in life. When we were waiting for our test results, I actually told the doctor about the call from the nurse, and about the genetic consultant, and expressed dissatisfaction in the approaches that were taken. The doctor acknowledged this, and actually told me not to worry, as well. They're professionally advised against this (as there might in fact be something wrong), but I appreciated that my doctor dealt with me as person first, and a patient second. Thanks for saying I'm adorable! I thought that comment above yours was pretty funny. :-) Keep on reading and commenting!

Sandy

Not Nice!

10/23/2009 at 3:12 pm

Hi Taylor, Not nice how doctors can scare you so much that you cannot enjoy the miracle of life. I had a miscarriage before my second child. And so when I got pregnant again I had to get every test done in the world. My biggest weapon, I got informed. I researched and made sure I went in there knowing what they were saying. At 8 weeks I had to get a Nuchal Translucency Test (a statistical test) that came back abnormal and then the running around came. I had to get an amnio and had to see a genetic counsler (who thankfully had feelings and who didn't treat us like idiots, of course b/c I went in there knowing everything she was going to tell me). Thankfully after all the testing and a change of OB (btw did I mention she gave us the option of aborting our baby based on a statistics test), today I have a healthy 10 month old baby girl. My best advice get yourself informed and ask questions, and stay strong and positive your baby will appreciate it....

Taylor Newman

Re: Not Nice!

10/23/2009 at 3:32 pm

Thanks for the great advice and encouragement Sandy! Interesting how quite a few commenters changed OB's after experiences like this. Way to go arming yourself with knowledge and following your gut! I'm sure your daughter is beautiful and amazing, and she will benefit enormously from having a strong, proactive Mama as an example to follow! My blogging has only just begun, but I already appreciate how valuable it is to have a community space for people to share in this way, so that others who are new to pregnancy and parenthood can learn from each other, and go into it all with some of the strength and wisdom from those who've gone before them. Thanks again!

Amy K.

I opted out of getting

10/24/2009 at 12:31 pm

I opted out of getting genetic testing done at all for exactly the reasons you mentioned. Even if my baby did have some disorder, there's nothing they can do about it while he's still in the womb, and neither of us need the stress. I'm not saying this is the way to go for everyone, but neither my husband nor I have any history of disorders in our families, and nothing could change my love for our son and my commitment to care for him no matter what.

Anonymous

Currently going through this!

12/17/2009 at 2:36 pm

Thank you for writing this blog. I am 34 weeks pregnant and on my way home from my normal OB appointment yesterday I recieved a phone call from the OB cooridinator that the DR I saw today noticed that my blood work indicated that I am carrier for SMA. The practice that I go to has 5 Drs and this is the first time I saw this one. I had no idea what she meant and the last time I had blood taken was at my 24 week mark...I got off the phone and was so confused, how could I be finding this out now and what does it mean... Needless to say I called the Dr. back and she told me that this was from the blood work that I had done at 12 weeks!!! and that somhow it wasn't tagged properly and noone followed up with me. So I have had a perfect pregnancy and then I get this scary bombshell dropped on me. I was already at work so they faxed a perscription for my husband to have his labs run and he got them done yesterday. The lab said the results should be ready within 2 to 5 days. So right now I am playing the waiting game to see if he is a carrier and I know I shouldn't be but I am scared out of my mind. I have been so stress free and laid back this whole pregnancy but I feel so lost and I am so annoyed the all the Drs and the office missed this on my file...I really hope the results are in by tomorrow. Thanks for writing this blog and giving me a place to vent, its good to know that I am not alone in going through these sort of worries....