When the tests are wrong

Medical tests always come with a caveat... They are never 100% accurate. There is always some margin of error, a "false negative" or "false positive" rate. In medicine, we generally trust them anyway. We are aware of the ones that are particularly dicey, and we take those results with an appropriately sized grain of salt when evaluating a patient and making treatment decisions. But there are so many tests that we have grown to trust almost without a second thought, and that can be a dangerous thing.

The state newborn screen is one of those tests that seems pretty legit. Most babies are fine, and most of them have a normal newborn screen (heel stick or PKU, as it is often referred to), and we confidently move forward with that negative result so long as the baby is doing well. Nora didn't do so well initially, and so we questioned that negative newborn screening result. We know that Ben and I both carry defective copies of the gene for Cystic Fibrosis, and she wasn't gaining weight very well (the typical presenting symptom of infants with CF) so we worried. Her condition was otherwise not terribly concerning for CF, so it was low on the list of possibilities, but it was always there, gnawing away at us. We had other testing done, and it looked like her slow weight gain was due to a food intolerance. We settled on that diagnosis and moved forward with special formula, and she has been thriving since - gaining weight like a champ. But along with that work-up, we had thrown in a CF gene test, just to be sure. Just to take that possibility off the table. The turn-around time for the test is 28 days, so we waited a long time.

Then on Thursday evening, I got a call from our pediatric gastroenterologist (who is also a dear friend of mine). She didn't quite know how to say it, so she just said it. "The test came back positive for CF." 

There it is. Our sweet baby girl has cystic fibrosis.

We cried for an hour or so. We bemoaned the utter unfairness of it all. We questioned why on earth we can't seem to catch a break when it comes to the health of our children - probably the single most important aspect of our lives, second only to our relationship with God. We wondered why, oh why, did this have to happen now - in the midst of my toughest rotation of residency, at the beginning of a 13-day stretch without a day off? 

But then we remembered... Our hope is in Him. Our hope cannot be in our children's health, or in an easy work schedule, or anything of this world. All of those things will fail us at one point or another (or, seemingly, at every turn!). But God is for us. He has known about this diagnosis since time began. This isn't a surprise to Him, and He already has it under control, even in the midst of this crazy time in our lives. We don't have to have it all together, we just have to trust that He does. We just have to be all that Nora needs us to be, to keep her healthy, to advocate for her, to love her just as we have been loving her. 

And as my sister-in-law, an experienced CF mom, reminded me... Nothing has changed. She is the same baby that she was yesterday. She has had CF since she was conceived, we just didn't know it. She is still going to smile her same smile, need her same needs, melt our hearts, work our nerves, grow and thrive and play and laugh... She's still ours. Nothing has changed. We will just be adding some new medications to her routine.

We will be sure to keep you all updated as we navigate this new chapter, and we would appreciate your prayers and encouragement along the way. Nora will have her first appointment at the Johns Hopkins CF Center on Monday.