As we all know, life throws changes at you all the time. For me, the first huge curveball was being diagnosed with cystic fibrosis at 20 years old. I had gone through my life wondering about the “secret disease” I joked about having. I coughed all the time with no hope it would get better. Fast forward to getting the diagnosis, taking Trikafta®, and getting married to my husband. We then decided it was time to add another member to our family (one that didn’t have fur).
In January of 2023, we found out that we were pregnant! This pregnancy meant a lot to us because we had had trouble getting pregnant. Despite the challenges, this time I knew it was meant to be. My CF care team and I decided I should continue taking Trikafta during my pregnancy because anything that helped me when I wasn’t pregnant should also help me while I was pregnant. I did, however, have to visit my sonographer every two weeks to have my cervix measured to ensure I wasn’t going into preterm labor. It was so nice to watch our girl grow — and we got tons of ultrasound photos.
Karleigh Jo was born in September of 2023 and instantly had us wrapped around her finger. This change in life is one that we will always be grateful for — even with the colic, gas, coughs, and getting used to our new titles as parents. It hasn’t been the easiest, even with a good baby. We’ve asked a lot of questions about how we were doing as parents, which shows just how much we care. As the novelty of new parenthood wore off and we became grounded in this new stage of life, my mom said something that made me wonder just how grounded I was.
My mom dealt with me being undiagnosed for 20 years. She had so many questions about why treatments weren’t working for me and got no answers from doctors. She knew how an undiagnosed baby acted, so when she said, “Madison, Karleigh acts a lot like how you did as a baby,” it made me question everything. Is that why she wouldn’t take breastmilk? Is that why she was on oxygen when she was first born? Is that why medicine for her sinus infection and COVID-19 didn’t seem to help? Is that why she seems to be hungry so soon after she just ate? So many thoughts raced in my head, and I knew I heard God’s voice telling me, “Go get her tested for CF.”
My husband's side of the family is like mine — they had never heard of cystic fibrosis until I came into the picture. I had noticed that some of the things my husband’s family deals with sound like cystic fibrosis symptoms, but then again, what would I know? I’m not a doctor by any means.
However, despite not being a doctor, I do understand the basics. Karleigh’s IRT levels were normal in her newborn screening, meaning there was a low chance she had CF. Although her poop did seem like CF, it could have been because of jaundice. She was put on oxygen minutes after she was born, but that could have been because she had complications while making her way into this world. She was coughing a lot, but that could have been because we live on a farm and the weather in Kentucky couldn’t decide if it wanted to be hot or cold. But ultimately, my family and I had the same question — could this all be related to cystic fibrosis?
So, we did what anyone would do — we listened to what God told us to do and went to her pediatrician to get a referral to be tested. A week later, we traveled to Vanderbilt Children’s Hospital in Nashville. to have the sweat test done. Another curveball was thrown, and our 5-month-old daughter was diagnosed with CF. I wondered how this could happen. The newborn screening showed that it was unlikely for her to have it, yet her salt chloride levels were obviously high in the sweat test. Her doctor explained to me that because I took Trikafta during my pregnancy, it altered her IRT levels. She also said that this is the first time she had ever seen a case like this — she had only heard and studied about it.
Having my daughter diagnosed with CF wasn’t a disappointment like you would think it’d be. Instead, it was a blessing! I obviously didn’t want my girl to go through more pain than necessary, but what she doesn’t have to go through are years of wondering what’s wrong with her, wondering if she has a “secret disease” like I did. This diagnosis was the best thing to happen for us and my husband's family. I thought 20 years of unanswered questions was tough, but my mother-in-law has waited over 50 years! She is now looking into getting tested for CF and thanking God for potential answers as well. The news of Karleigh’s diagnosis was a lot for her to take in, but now she suspects that CF is responsible for what she has dealt with for all these years. It may also explain why her parents were gone too soon — just like my mom’s parents.
It would be easy to not see the light in our diagnoses, but I don’t like to take the easy route. I’m a glass-half-full person, and I always try to see the good in any situation. Having my own answers when I was Karleigh’s age would have been great, but I wouldn’t have the drive to raise awareness that not all CF cases are the worst-case scenario. I struggled daily with a mild case that a lot of my doctors brushed off as sinus infections. It’d be easy to be mad at them for misdiagnosing me for 20 years, but what would that anger do for me? Instead, I’m thankful that I could help others get a correct diagnosis. I could be mad that the birthing center I went to didn’t realize that taking Trikafta during pregnancy could skew the results of a newborn screening, but what would that anger do for me? I take it all as a blessing that Karleigh has answers, and she can get the help that I desired to have for years. This one diagnosis will help doctors, scientists, patients, and families realize that every case of cystic fibrosis is different. One case can shift the medical perspective. One case can help researchers find out more about CF. One case gave my loved ones answers. One case can help spread awareness of how cystic fibrosis works. What can this case do for you?
Interested in sharing your story? The CF Community Blog wants to hear from you.
