Friday, December 12, 2014

Manic Motherhood and False Positives

When I was 8 months pregnant I read a poignant article comparing the American post-partum culture with others and how we push for mothers to "get back to normal quickly" and vowed that this time around I would try savor the newborn stage and let go of my control tendencies and let others take care of me.  Instead of arguing that we were "fine and had it under control" like I normally do, I accepted meals and help and spent the first week cocooned in our house letting Amma and James take care of the house while I took care of myself and the baby.  I ended up "hosting" a speaker at the library when John was 5 days old due to my own poor planning (and interest in the topic of babies and sleep of course!) but afterwards vowed I was done and going to stay at home the rest of John's first six weeks snuggling.
I obviously haven't done that and instead, I've spent the past few weeks avoiding down time and pouring myself into photo projects, playgroups and outings, if only to avoid the dark places my mind would go or to keep myself from googling myself into despair.  I've detailed our ordeal below, but essentially John had a false positive test result twice for a degenerative genetic disorder.

 Intellectually, I understand that we were lucky and our four weeks of worry were absolutely nothing compared to families who do not receive good news at the end, but emotionally I'm still a bit shaken by the whole experience.  Because we knew there was so much we didn't know (especially as there is a spectrum of genetic mutations where symptoms vary widely), we kept it to ourselves hoping that when we had to share the news good or bad, we would at least know what we were talking about, but while we were waiting and waiting and waiting, it was just better not to talk about it, especially as I could barely handle the questions my own mind brought up, let alone what others might!  It was also nice to have lots of distractions and truthfully, it was incredibly helpful to hear other people tell me how healthy our baby looked, even if I was questioning everything about him.   However, with one final test result coming back today, we have been able to unequivocally say that this chunky baby is healthy!
 When John was 8 days old, we got a call back from the pediatrician notifying us his newborn blood draw had been flagged for additional screening for cystic fibrosis due to high levels of IRT.    However, the state of MT just lowered their threshold for screening (as in, if John was born two months prior, his result would have been classified as normal and we wouldn't have gone through this whole ordeal), so while I temporarily freaked out and the nurse was very careful not to give false hope, we all assumed it was a false positive (which is pretty common since the general statistic is that 90% of people flagged on the first draw are false positives).  Unfortunately, as they got the result back on a Friday night, we couldn't schedule the new bloodwork until Monday, and in Montana results take 7-10 business days.  We had already been to the doctor's office twice (we had some scheduling issues with his circ. in addition to his normal 3 day follow-up) and geared up for a third visit to for another heel prick, which is awful to experience with a newborn but doable.

Toward the end of the waiting period to get the second blood draw results we had to take John in for his three week check-up and for another very minor issue with his circ.  At this appointment his pediatrician dropped the bombshell that his results had just come back and not only had his IRT levels not dropped as expected, they increased.  (Basically, the initial IRT cut-off was 80 and the cut-off for levels at 3 weeks is 65ish and John's levels were initially 84 but had jumped to 110 with the second screening.) We also discovered our primary doctor had already spoken about treatments with the state CF specialist and we were discussing whether or not we could or should try and brave a snowstorm to make it to Billings the Wednesday before Thanksgiving.

For a mother who has mentally debated the health benefits of starting solids at 5.75 months vs. 6 months as a "serious" issue, hearing that you might need to start your two week old IMMEDIATELY on applesauce with daily enzymes was overwhelming and frightening to say the least.  Without getting into the details of CF of which I am definitely no expert, it is a degenerative disease so the earlier preventative treatment is started (even before symptoms necessarily emerge), the better, which is why it is including in the newborn screening.  Fortunately John was putting on weight well so they agreed we could hold off on any treatments over the weekend until we knew more and they drew more blood for a genetic test, as well as sent us home to collect a stool sample.

Unfortunately, after the urgency in the doctor's office, with a holiday weekend etc. etc. we couldn't get in to see the specialist in Billings until the next Thursday.  By Tuesday (one week after the second results came back) I was anxious to take John in for a weight check just to make certain he was putting on weight.  Thankfully he was doing well, so we held off on any additional treatment and then it was just waiting to drive to Billings for the sweat test and meeting with the CF specialist.  

While taking our four week old to Billings for tests was not the way either of us wanted to spend a day "off" together, we had amazing neighbors and friends shuttle the Matthew and Catherine around for the day so both James and I could go, and one amazing neighbor who surprised us by started a pot roast in our crock pot that was waiting for us when we got home.  A trip to Billings for medical tests was not only intimidating for the obvious reasons, but prior to this point, John had demonstrated nothing but disdain for time in the car.  For whatever reason, he did fantastic on the trip to Billings and back and made (temporary) peace with his car seat:

This appointment went as well as could be expected, especially considering none of our lab results were back to discuss.  The specialist agreed John looked and sounded healthy so far (though we did have a snafu with his weight and the office scale that added more worry for me) and the sweat test (which is only done in Billings) would be the last piece of the diagnostic puzzle.  At this appointment we learned that the states IRT cut-off levels for screening were recently lowered because they missed a case of CF and that baby had lower numbers than John, which was in no way reassuring.  Unfortunately, the sweat test also has a 7-10 business day waiting period for results.  Because we knew this was the most definitive of the tests and can only be done in Billings, we weren't going to leave it to chance for John and made sure John was bundled well during the test!  The test involved 5 minutes of electrodes on each arm, followed by 30 minutes of hanging out while two little coiled tubes strapped to his arm collected sweat to be tested for chloride levels.

It's still hard to explain what went through my head the past month.  Believing it's likely your child might have a life-altering condition that would likely change how your entire family functions is crazy and seriously thinking about your child's life expectancy is absolutely heartbreaking.  In addition to trying to avoid thinking about these things, I wanted our family to be out doing everything just in case the other shoe might drop and life would get significantly harder.  And on a nitpicky level, it shot down any confidence I had as a third time mom since now the everyday "is this normal" question had the added level of "is this normal or a symptom of CF."

As each day passes this little episode will become a blip in our memories but for right now it has consumed 80% of our time with John so it's going to take a while for me to re-find normal, to not spaz out over every cough/sneeze and not re-run our family lineage a million times in my head to figure out how we were both carriers (which after all this, it is likely that neither of us are carriers).  I think the biggest issue is when you've been a false positive, and then been in the statistical minority, it's hard to find reassurance that you are in the statistical majority or couldn't instead be a false negative.  It's also hard because I want to be angry that we had to go through all this due to what was either natural variability in John's IRT levels, testing error or just a system that casts a net too wide.  However, it's also hard to be too angry because at the end of the day, while I might not have spent the days squirreled away in bed, I still had a snuggly baby in my sling and was busy making memories with big brother and big sister.  In the meantime I can't promise I'm going to slow down like I had intended, but I'll at least be busying myself with intention instead of out of avoidance :-)

1 comment:

  1. What and ordeal you and James went through. I cried when I read your heart wrentching tale of the weeks of waiting for the outcome of testing and retesting. I understand you agony. Now to find a sense of normalacy will be tough with that sometime lingering "what if" scenero that you will be thinking of. You come from harty stock Heather, so I know you will face whatever challenge is tossed your way. I'm glad that you've shared your story to let us help carry that load for you. My love to all of you. Teta


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