Intussusception Saved My Life: CF Diagnosis Story
Around two-thirds of people living with CF are diagnosed before the age of 2.1 However, that’s not how my CF diagnosis story plays out at all.
My diagnosis story is a bit unusual because it doesn't include a tiny baby and the devastating results of a newborn screen like many today. Instead, I was four when I was finally diagnosed with CF. Although intussusception and extreme GI symptoms were a means to an end, the cystic fibrosis symptoms were present from the start.
A mother’s intuition
Back then, my mom remembers me as a timid and very clingy bleach-blonde 4-year-old. My distended belly was coupled with ultra-skinny legs and arms that did not match one another. At that time, I was 28 pounds, very low weight for my age, and survived by slurping down mineral oil to keep my bowels moving. There were many years of worrisome and strange symptoms, useless doctors visits, and ER trips that ultimately led to no diagnosis.
My mom knew about CF because she worked as a respiratory therapist long before I was born. She vaguely knew the signs and prognosis of CF but she had never treated a CF patient herself. However, because I didn’t cough or have respiratory symptoms, every time she suggested I could have CF the doctors disregarded her. “She’s lactose intolerant... Did your dog die? It could be stress...”, they said. Their comments led my mom to feel crazy and paranoid, and she doubted her intuition.
Symptoms leading to CF
The majority of my symptoms leading up to my CF diagnosis were GI symptoms such as poor weight gain despite a robust appetite, chronic belly aches, constipation, and malabsorption. Frankly, my mom always said she knew something wasn’t right because I had the strangest poop she had ever seen--nothing like her two older children’s. After eating, I would complain of stomach aches and experience a very distended stomach.
Intussusception of the bowels
The event that led to my diagnosis was a case of intussusception of my bowels a month before my 5th birthday. Intussusception is when the intestines “telescope” or slide into itself and cause a blockage.2,3 Intussusception is a rare event experienced by 1% of people with cystic fibrosis.2,3
I was admitted to the hospital through the ER and I remember them passing a nasogastric tube down my nose to my stomach. My arms were wrapped in a sheet as they passed it. I was the toughest little girl in that moment, passing the NG tube like an adult.
During that stay, the rounding GI doctor believed my mom’s hunch was right. She had completed a rotation at the local CF clinic with a very talented and knowledgable doctor. She understood that not every CF case presented the same way and she wanted to help. As it was a Friday afternoon, she snuck us out of the hospital and drove us in her personal car to receive a sweat test at another hospital. Because of this doctor, we didn’t have to wait the weekend for answers, and she possibly saved my life.
August 4th, 1995
On August 4th, 1995, my sweat test results came back positive and I was officially diagnosed with cystic fibrosis. Although my mom felt she knew in her heart I had CF, she needed to hear the words to believe it. On the other hand, my dad took the news about his little girl very hard. My parents were relieved to have answers, but also understandably sad and terrified about what CF meant for my future. Unfortunately, CF was still a grim diagnosis in 1995.
The one detail that made my diagnosis easier was that the director of the local CF clinic--the same doctor that taught the brave GI doctor on her CF rotations--agreed to take me on as a patient, although he wasn’t accepting new patients, because of the uniqueness of my case. Dr. Carl Doershuk was a renowned CF doctor involved in some of the earliest treatments of CF. My family and I were in good hands moving forward as we learned more about CF and what was to come.
How were you or a loved one diagnosed with CF? Was intussusception part of your cystic fibrosis diagnosis story? Tell us your diagnosis story below!
Have you (or a loved one) been experiencing any negative side effects from Trikafta?