"I will take you pain, and put it on my heart.
I won't hesitate, just tell me where to start.
I thank the oceans for giving me you.
You saved me once and now I'll save you too."
Approximately 30,000 people in the United States are living with Cystic Fibrosis (CF), making it the most common, life-limiting recessive genetic disorder. For a person to be born with CF, both of their parents have to be carriers of the mutation. The likelihood of carrying the faulty gene is somewhere around 1 in 29. Drop the zero and carry the one, and the math brings us to a whopping total of 1 in every 2,500 - 3,500 Americans being carriers.
Usually, math is not my strong suit. In the last few months, however, I have practically become a professional in genetics and statistics. I thank my lucky stars for the AP biology teacher I had who taught me how to draft Punnett Squares - ya know, those square diagrams with big and little letters that we used to predict what color eyes our future children would have. Except, only now, I'm no longer using them to predict who my daughter will look like.
I'm using them to determine just how likely the odds are that she has CF.
When I first found out I was pregnant, my OB grilled me every visit to have my carrier screen drawn. For those who might not know what that is, a carrier screen is a blood test used to screen parents for a panel of common genetic disorders that could be passed down to their children. CF is generally in the top three conditions screened for in the test. My OB found it ironic that I kept refusing the test given my place of work. I have worked under a perinatologist (high-risk obstetrician) for four years. We conduct carrier screenings on a daily basis in order to narrow down why a pregnancy might be considered high risk. In most cases, parents have no idea they're carriers of a genetic condition until their results come back positive. Usually, they assume that, because the people in their family are happy and healthy, then there is nothing to worry about.
I was one of those people.
I promised my OB that if anything abnormal came up during my pregnancy, then I would bite the bullet and take the test. It's not that I was worried about cost or was too afraid of having my blood drawn (by this point, I was quite used to being poked at all of the time) - I just didn't think I needed it. I was optimistic and hopeful my pregnancy would run smoothly. More than anything, I just wanted to make it out of the danger zone so I could quit worrying about my odds of miscarrying (which is a 1 in 4 chance... just in case anyone was wondering... I wasn't kidding when I said I was getting good at statistics). I really didn't want the added stress of waiting around for two weeks for my results to come in if there was going to be nothing to worry about. Eventually, my OB gave up on trying to change my mind and I thought I had heard the last of this conversation, but only until I hit the 18th week of my pregnancy.
At 18 weeks, I was referred to my own place of work for my anatomy scan. It was exciting to get to sit side-by-side with the people I had worked with for years while we watched my baby girl wiggle and dance on the ultrasound. For years, I sat on the other side of the table watching expectant mothers rejoice at seeing their babies-to-be. Now it was my turn. Finally.
My anatomy scan had run smoothly for the most part. We had gotten to see my girl's face, as well as all her little fingers and toes. She sat with her legs crossed for most of the scan, like the true lady she is. Already, I could tell my daughter was going to have such a big personality and I was over-the-moon excited. When I sat down with my employer and now prenatal care provider, I was expecting nothing but good news. From what I could see, my girl was perfect. Absolutely perfect.
That's why it struck me as odd when my doctor told me she wanted to repeat the scan in a few weeks. She chalked it up to my daughter still being too small for certain parts of her body to be seen. We were informed at that point that her growth was measuring in the 15th percentile. We had also made note of an existing echogenic intracardiac focus (EIF), but this was not something that really gave me any reason to be concerned. By definition, an EIF is a small build up of calcium within the heart and occurs in about 3 to 5 percent of all pregnancies. We see them all the time at my work, yet my doctor still wanted to follow up on it.
That was when I could hear the bomb start to tick.
Having worked in the medical field for as long as I have, it's become easier for me to pick up on when a provider might be sugar-coating a situation. While my doctor had nothing but good things to say, aside from my baby being much smaller than the average, I had this gut-feeling that something bigger was about to unravel. It probably didn't help that I had worked with this woman for so long that I had grown accustomed to knowing the difference between her "patient voice" and her "we need to have a talk voice". In her defense, she had also adapted to the fact that I am an obsessive compulsive and anxious person, especially following the loss of my son. It's like we were in this awkward limbo with one another of not wanting to set the alarms off just yet.
At 21 weeks, we conducted my follow up scan. The EIF was still there, shining brightly in the lower chambers, but making no impact on just how strongly my girl's heart was beating. I was surprised at how long my scan had been taking. Generally, an anatomy scan needs at least an hour for completion. I had assumed, however, since we had already seen most of her anatomy in the first scan, that this one would mainly be to touch on the parts of her body we couldn't see the first time around.
After a little while, the room had grown eerily quiet and I noticed an extra amount of time was being spent on the abdominal region of my baby's anatomy. There was still much for me to learn when it came to reading ultrasounds, but I could still recognize the bright spectacles fading in and out of view in places where they didn't belong. What were they? Tumors? Cysts? More calcifications? I was too scared to ask, so I laid there quietly and hoped the tension would break at some point. When my sonographer asked me to stay in the room while she reviewed my images with the doctor, I had a feeling it was because she might need to come back to confirm if something really was abnormal.
The ticking of the bomb started to grow louder as she slipped out of the room. I looked at my husband and told him that something didn't seem right. I didn't quite know what it was, but I had a feeling something was wrong.
A few minutes later, the sonographer returned and, before I could even finish asking, she was already reassuring me that everything was okay. I could tell she had been prepped before-hand. I love that my office is so attentive to my personality type, but in that moment I was silently begging for someone to just rip the band-aid off already. I needed to know if what I was seeing was real.
As she jumped right back in to scanning my baby's belly area, I could for sure see the bright spot sitting adjacent to the stomach. It was small, and not quite placed in the stomach, itself - but it was still there, nonetheless. I was also racking my brain trying to determine if baby girl's bowel system was brighter than normal, too.
Was anyone else hearing the bomb tick?
My sonographer left the room for a second time, only to come back to tell me to go directly to the doctor's office. Don't stop at the restroom, don't go up front to the lobby, don't pass GO, don't collect $200. Just go right into her office.
The size of the office suddenly seemed so much smaller and more suffocating as I sat down on the other side of my doctor's desk. I had sat in these chairs plenty of times before, feet kicked up and with nothing to worry about. This time was different. This time, I was scared.
"I just want to say, first, that I am very happy with how baby is growing. She was previously in the 15th percentile, but now she is in the 20th. She is still small, but this is a big improvement and I am very happy about it," my doctor tells me. Any other time, I would have been happy to hear this news, but I was still waiting for her to rip the band-aid off. I knew it was coming. The bomb had been ticking for weeks now.
"We did see the EIF again today, as expected. I know that you understand that this is a relatively common finding and generally amounts to nothing," she continued. She went on to say that, as an isolated finding, she would not order any further work ups to rule out the cause of an existing EIF. In some cases, an EIF is associated as a marker for Down Syndrome, however, I had already received a negative result on my noninvasive prenatal testing (NIPT).
"We did, however, also see an echogenic bowel and a small intra-abdominal calcification near the baby's stomach. It's a small calcification, but it's still there, nonetheless, and I think we need to look further into it," she finally says.
The bomb stopped ticking for a few seconds, just long enough for me to process what my doctor was saying, before finally detonating.
"These findings are common indicators of Cystic Fibrosis and congenital infections."
That was the last thing I really remember hearing her say for the remainder of the consult. In the background, I know she's reminding me of what these findings entail and what testing needs to be done to rule out the worst case scenarios, all while also trying to reassure me that she believes everything is going to come back negative and this will all just be some sort of false alarm. In my own head, I'm pulling together each statistic revolving around echogenic foci and how serious of a concern they might actually be: As an isolated finding, echogenic bowels are seen in 1% of all second trimester scans and account for only 0 to 13% of associated CF cases. Intra-abdominal calcifications, on the other hand, have an even lower association with CF than what history originally taught.
I watched my doctor write up the order for blood work, while drafting Punnett Squares in my head. At this point, I really had no option in not doing the carrier screening. I had to know. Was CF really a concern here? Even if I did come back as a carrier, then that would only mean that my husband had to be a carrier, too, for my daughter to be dangerously impacted. It was possible that my carrier status could be passed down, but to actually have the condition, itself? Only 30,000 people in the United States had CF... there's no way her odds would rule in that favor.
I made sure to have all of my blood drawn that same day and shipped out as an expedited order. Altogether, I was looking at about 2 weeks before I would know if the concerns for CF or congenital infections were real. The workup for congenital infections came back first. A relatively basic panel, this testing ruled out any chances of my being infected with viruses commonly caught from changing cat litter or being exposed to childcare settings. What would resemble the common cold for me could potentially mean a life-threatening infection for my growing child. Thankfully, my results had come back as negative and I could cross congenital infections off my list, leaving CF still on the books.
For two weeks, I spent my time comparing statistics in medical journals about babies born with CF. My head was stuck running through a vicious cycle that tossed back and forth between knowing that, individually, my daughter's findings were quite common and, when placed together in one bucket, their call for concern was higher than the average.
For two weeks, I tried to remain hopeful while I impatiently refreshed the provider portal login for the lab that was running my CF screen. At least once every hour, I was checking to see if my labs had transitioned from PENDING to DELIVERED. Over and over and over, I continued to refresh the screen until my eyes hurt from staring for so long.
I remember sitting at home, late one Tuesday night, phone glued to my hand, when I hit that refresh button and finally saw that the status had changed. As quickly as I could, I clicked on the DELIVERED link, only to be brought to the thing I had feared most: A bright, red link that read RESULTS DELIVERED: STATUS - ABNORMAL.
Somewhere, another bomb started to tick.
I stared at the red link, questioning whether or not what I was seeing was real. There were 274 different conditions that I was tested for. Something had come back positive and there was a 1 in 274 chance that it was the CF. I felt like I couldn't breathe.
I finally clicked on the link and felt my heart sink to the floor. Another bomb went off.
POSITIVE CARRIER STATUS: CYSTIC FIBROSIS
This was real. The very thing that I had been obsessing and stressing over was real. More and more Punnett Squares started racing through my head. There was a 50% chance that my daughter would only be a carrier like myself. What if she wanted children some day? Would she be stuck living in this nightmare like I was?
At this point, only half of the work had been done. We still needed to know my husband's carrier status in order to determine how at risk my daughter truly was of having CF. If my husband was also a carrier for CF, then we would know for certain if these echogenic foci were falling into the 0 to 13% of associated CF cases.
Another two weeks of waiting. I absolutely hated how long this whole process was taking. Standard protocol states that we only test the father of the baby for genetic carrier status if the mom comes back as positive for something, but I really wish we could have done things out of order just this once. I tried to remain hopeful, however. There was still a chance that my husband's screen would be negative and we wouldn't have to worry any longer about CF. In the four years that I had worked for the perinatologist, we had only ever seen two positive carrier screen matches between couples, and they weren't even for the three most common conditions tested. What were our odds of being the next positive match on a carrier screen? I wish I had a statistic for that.
For two weeks, I lived in the same cycle of refreshing the screen, waiting for my husband's results to transfer from the PENDING to DELIVERED tab. I honestly feel bad for the lab representative that my office works with, as I called her nearly every other day asking if there was any way we could get the lab results delivered faster - even though I knew the standard two weeks of testing was the absolute minimum it would take for the technicians to finish analyzing my husband's genes.
On the fourteenth day of testing, I practically lived at my computer's side. I felt my heart stop for a moment when the page was finally refreshed to reveal an updated status of DELIVERED. I wanted to celebrate the fact that the wait was finally over, but there was little room left for celebration when I discovered the same familiar red link next to my husband's name.
RESULTS DELIVERED: STATUS - ABNORMAL
At this point, I was almost too scared to click on the link. He had the same odds that I did - a 1 in 274 chance of his abnormal result pulling from a positive CF screen. There were 273 other conditions tested for on that panel. Maybe his result would be different...
I clicked on the link.
POSITIVE CARRIER STATUS: CYSTIC FIBROSIS
In all of 0.2 milliseconds, if felt as if the earth shattered. This was real. Every medical journal pieced together demonstrating the odds of how low the risks were of echogenic foci on an ultrasound and an association with CF, and yet... here we were. We were the 1 in 29 who carried the genetic mutation for CF. We were the 0 to 13% of pregnancies affected by the condition. The odds were ruled against us.
In any other setting, our genetic counselor would have advised that, even with a matching carrier screen, the odds of any children actually inheriting the condition from the parents is still only at 25%. This leaves a 50% chance of only being a carrier and a 25% chance of not being impacted at all. Overall, the risk of being a carrier is double the risk of having the condition. This should be reassuring, right?
Wrong.
Again, I was never any good at math, but basic addition has taught me that:
2 positive carrier parents + 3 separate echogenic foci + 1 small baby = Exponentially higher odds of my daughter having CF.
At this point, I quit letting myself get my hopes up that everything would magically turn out okay. It's not that I had lost sight of hope, altogether, but rather, I had begun thinking realistically. I pursued a consultation with my genetic councilor, issued a referral to Phoenix Children's Cystic Fibrosis Program and met with my pediatrician to discuss what medical management was going to look like for my daughter right from birth. Maybe I was being over-productive, but I was determined that, if these were the cards that God was going to deal me, then I was going to play the hell out of them.
I wish I could say I was surprised when my next ultrasound at 26 weeks revealed another marker for CF. In all honestly, I had expected it. I wasn't surprised when my doctor came into the room to take over my ultrasound only to confirm that my daughter's gallbladder could not be visualized. Non-visualization of the gallbladder is a rare episode that only occurs in 0.1 to 0.15% of pregnancies.
If there is anyone here who doesn't quite know what CF is, it's this: It's a condition that affects the lungs and digestive system. With CF, the body produces a thick and sticky mucus that can clog the lungs and obstruct the pancreas. Not being able to see the gallbladder gave final confirmation that my daughter was experiencing a build up of fluids throughout her body that was now creating obstructions. In other words, this was the final nail in the coffin to the thing that I had already known.
For the first time, my doctor finally said to my husband and I, "I believe this baby has Cystic Fibrosis. I want you to understand that."
Truth be told, I felt some sort of relief in hearing her say those words. It's heartbreaking to think that the length of my daughter's life could be dramatically shortened by a condition passed down through our genetics. I feel responsible for the difficulties she might face in life. However, it also feels refreshing to know that, this time, I get to have my answer. I never got to know why my son was taken away from me so early and it haunts me every single day. But my daughter? This time God is giving me a chance. He's giving me the chance to fight for her, to do right by her, and to love her through her darkest hours. I might not agree with the plan He's chosen to lay out for my growing family, but I do know I will fight like hell to make sure we still get to thrive.
Before leaving my ultrasound, my doctor said something to me privately. She said, "If I had to pick any set of parents to care for this Cystic Fibrosis child, it would be you and your husband. I mean that. If there is anyone on this earth that I believe was built to care for this child, it's you. I know you'll fight for her. I know you'll stay on top of her treatment plans. I know you. I know your spirit. And I know that this child was meant for you."
To everyone who has reached out to my husband and I to offer prayer and words of affirmation, I cannot possibly thank you enough. I know my daughter might have a long and difficult road ahead of her, but I'm thankful that she doesn't have to go down it alone. I know she will have an army of people to support her in whatever God throws her way. Austin and I are so incredibly grateful for this child that God has blessed us with and will continue to trust in His plan for us.
To my daughter, we will never stop fighting for you.
