Our Cystic Fibrosis Diagnosis: Sarah’s Story

Becoming a parent for the first time is supposed to be the most exciting time in your life. You finally get to meet the precious human you’ve been growing inside of you. The weeks leading up to delivery are filled with preparation and anticipation. Until one day, they’re not.  

My water broke in the middle of the night when I was only 35 weeks pregnant.  This was far from what I had imagined, and it was definitely not part of the plan. I was a kindergarten teacher expecting to have at least a few more weeks in the classroom. My report cards weren’t done, and my maternity substitute was supposed to be coming to observe my class for the first time later that morning.   

Although my little guy decided to join us a month earlier than planned, I had a relatively uneventful birth. My labor lasted around nine hours, and in three pushes he was out! I was the mom to a healthy baby boy that didn’t need anything other than a couple of doses of glucose gel. Different nurses told me before, during, and after labor that my baby would likely need a short NICU stay due to his early arrival, but luckily he did not.  We went home as an exhausted, but happy family of three about 48 hours after birth.  

The first few days and weeks after giving birth are ROUGH for everyone, but our first month was particularly exhausting- mentally, physically, and emotionally. My son had a doctor appointment every other day to check bilirubin levels for the first week and a half.  I had an ER trip for kidney stones, and a clinic visit for mastitis. If that wasn’t enough, my baby was also diagnosed with hydronephrosis of his left kidney, which was very scary at the time. On top of those challenges, I was also sad in some ways that my pregnancy was over. I missed out on some things that I wanted to do. I didn’t have any photos of my belly before the baby came. I was also home alone a lot. My husband’s job doesn’t provide any paid parental leave, so he was back to work once we got home from the hospital. 

One afternoon, about three weeks after my son was born, our pediatrician called. My son’s newborn screening (USA), that the nurse in the hospital assured me was nothing to worry about, had been flagged for high IRT levels, which meant there was a chance my son had cystic fibrosis. What she did not tell me, was that the screener also detected the delta F508 gene mutation, which is the most common CF causing mutation. I had heard of CF, but I did not know much aside from a few basic facts. I was terrified. We immediately had to schedule a sweat test, which is considered the gold standard for diagnosis, and a meeting with a genetic counselor followed by a blood draw for genetic testing. The night before our sweat test, I sat up all night crying, holding my baby while browsing CF related hashtags on Instagram. I had a feeling. I knew that feeling was right the second I saw the geneticist’s face when she came to give us our sweat test results. I broke down and immediately called my husband, who of course had to work that day. My mom, me, and my sweet little baby sat through the rest of the meeting in shock. I did not care what she had to say. I was petrified. I sat there clutching my sleeping, perfect baby who had just been diagnosed with cystic fibrosis. 

Cystic fibrosis is a progressive, life shortening, genetic disease that causes persistent lung infections while also damaging the digestive systems and multiple organs in the body. There are not words to describe the emotions you feel when your child is diagnosed with an incurable disease that significantly shortens a person’s life span. Aside from the emotional and mental impact of a diagnosis of this magnitude, there is also a physical impact. I was one month postpartum, still healing physically from birth, exclusively pumping, and running on barely enough sleep to function. I immediately dropped five pounds. I did not want to eat. I held my baby and cried instead of sleeping. I was so afraid to continue to bond with my son because I was so terrified that something would happen and he would die. It seems extreme, but it is how I felt, and I felt horrible for feeling that way. Over the next few weeks, I learned so much about my son’s disease, his new care regimen, and the medications that he will take for the rest of his life.  

We had multiple CF clinic appointments following diagnosis. In the US, you attend CF clinic at a Cystic Fibrosis Foundation accredited care center. You have a team consisting of two nurses, a pediatric pulmonologist, a respiratory therapist, a dietician, and a social worker. Appointments can be over four hours long, and we drive over three hours round trip for each appointment. After our first few initial appointments, we went to clinic every two weeks, then once a month, and now every three months. Learning so much in such a short amount of time, while figuring out all the usual newborn stuff, is beyond exhausting in every way. If it sounds like a lot, it was, and it still is, and it always will be. 

In addition to taking care of my own healing, learning how to take care of a newborn, and exclusively pumping, now I had to learn the routine of cystic fibrosis. We had to add in two twenty-minute, manual chest physiotherapy (CPT) sessions per day. To complicate matters further, the CPT had to be done at least one hour after a feeding. My baby was eating every two hours at this point, so timing became critical. He also began using an albuterol inhaler with a chamber and a tiny little infant mask before each CPT session. We also had to add in digestive enzymes with each feeding, which aid in the absorption of nutrients. Our CF clinic recommended high calorie formula supplementation to keep my son’s weight above the fiftieth percentile. He also had to take disgusting-smelling orange pediatric multivitamins. Salt supplementation was also added to his milk throughout the day. Around six months, nebulized breathing treatments were added.  

I started a log to record feedings, bowel movements, medications, therapy sessions, and breathing treatments. I wrote down everything, and still write a lot in the log to keep track of things on a daily basis. I cannot tell you when my last period was, but I can tell you the frequency and consistency of my baby’s poop on May 17, 2019. In case you were wondering.  

Our cystic fibrosis diagnosis stole all the exciting newborn joy from my life. Looking back, I hate that about my son’s first year of life, especially the first few months after diagnosis. I was always exhausted, sleeping in a chair for the first three and a half months, holding him upright in case he spit up and aspirated. Around four months, we removed one side from his unused crib and attached it to our bed. Instead of sleeping, I laid awake counting my son’s breaths per minute to make sure he was okay. I was always mentally preparing for the worst. It really is crazy how much a diagnosis can change your life. 

Things are much better now. My son is two and a half. We have a routine. I know what to look out for, and I do my best to keep my son as healthy as possible. Luckily, he’s only had two brief hospital stays. There are new treatments in trials that are very promising for the CF community. But there is still no cure, and every cough or sneeze or sign of constipation or backup sends me into an anxious tailspin. The pandemic has added such extreme isolation that very few people can understand. I am still scared for what the future holds for my baby, but I am also more hopeful than I have ever been about anything. I have learned to take life one day at a time and appreciate every single breath. 

-Sarah from the Midwest US

XOXO Renee Reina

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1 Comment
  • Katy
    June 1, 2021

    Sarah is so brave! Her courage through all of this is so admirable. She is a wonderful mother and a great advocate for her son. She’s my sister, and she’s my hero!

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Our Cystic Fibrosis Diagnosis: Sarah’s Story