My Rare Cystic Fibrosis Diagnosis Story

Growing up with a rare disease, I didn’t realize how truly special I was. The novelty of my existence and the chance match of my genetics was completely lost on me. Being the only one with CF, an inherited disorder, in my sizable extended family was just the beginning–the way my CF was discovered was equally unique as well.

CF diagnosis stats

When I was born in 1990, there was no such thing as the commonly used CF newborn screen like there is today. DeltaF508, the most common CF gene, had just been identified the year before in 1989, much to the world’s surprise. Currently, most babies are diagnosed as a result of the National Newborn Screening Test, which looks for CF in the first few days of life. Genetic testing is then completed to confirm a positive sweat test and identify which CF mutations are present.

More than 75% of people with CF are diagnosed by the age of 2 ¹. My story is one of the many in the other 25% of people who stumbled upon their diagnosis later and often in unconventional ways. In the world of rare disease, you could say my diagnosis is just as rare.

Healthy and happy baby

I recently sat down with my mom and asked her to fill in the details of my diagnosis story that were missing. She happily obliged and started with the memory that I was a seemingly healthy and beautiful baby. In fact, I had no issues gaining weight and wasn’t a particularly fussy baby, as my mom recalled. However, immediately my mom noticed my poop looked “bizarre” and unlike my older sibling’s, but the doctors weren’t concerned as I continued to grow following the growth chart.

Growing signs and symptoms

As I grew into a toddler, my mom started to witness intermittent clubbing on my fingers, a common physical symptom of CF. I stopped gaining weight and had very thin arms and legs with a large, extended belly. When she kissed me, she tasted salt and realized I became dehydrated in the heat more quickly than other children. All subtle signs of cystic fibrosis she has learned about as a practicing respiratory therapist. However, if I had CF, what were the typical respiratory symptoms? She noted that I never coughed or was sick often, but I had very long lungs.

At this point, she approached my pediatrician and told her she believed I had CF. Essentially, this pediatrician medically gaslit my mom to the point she thought she might be a crazy, overly concerned mother. Left doubting her intuition, she walked out with a sweat test script but never ended up scheduling the test.

Bad omens at the water park

A year or two later, at the age of 4, my diagnosis came to a head after a trip to the most innocent place in the world: a waterpark. At the waterpark, I started complaining of a stomach ache after eating ice cream. When the pain didn’t ease and intensified, my parents took me to the ER, where they did a full GI workup and determined I must be lactose intolerant when they didn’t find anything. Again, my mom mentioned her concern for CF. The doctors said they didn’t believe I had CF.

For the next few weeks, I was in and out of the ER, complaining of stomach pain. One of my first memories is arriving at the ER to step on the scale, only weighing 26 lb at four years old. They admitted me to the hospital and diagnosed me with intussusception. Intussusception is a rare form of bowel obstruction where the bowels telescope into each other ². Soon after, they wrapped my arms and legs in a sheet and passed a NG tube as my mom helped me swallow it. (If you have ever had an NG tube, you know how traumatic they are.) The NG tube was used to release the pressure on my bowels and reverse the obstruction. Only 96 people, or 0.0005% of people in the CF Foundation Patient Registry, have been diagnosed with an episode of intussusception ².

A knight in a shiny white coat

During my hospital stay, my mom recalls one doctor sitting down and listening to her fears that I had CF. This particular doctor had spent time in residency at our local CF clinic. (She worked under my soon-to-be new CF doctor.) She agreed that I had no respiratory symptoms but felt my mom’s intuition may be right. The need for a sweat test was immediate, but the in-patient hospital I was at could only schedule one a few days away. I would have to wait.

In a dramatic hospital escape, the physician drove my mom and me across town to the CF clinic, where she had called ahead to her former colleague and scheduled a sweat test. What a daring decision this particular physician made, but ultimately, it led to my diagnosis and connected me to the treatments I needed that much sooner.

Diagnosis: cystic fibrosis

My sweat test came back positive at 112 mmol/L, high above the 60mm/L CF threshold ³. The next day, I had my first appointment at my CF clinic, which I still see 28 years later. My doctor was well-established and one of the original doctors involved in creating a clinical care guideline for CF. Although he was about to retire in his late 70s, he took me on as a patient because he said my diagnosis and presentation of CF was very unique. As they say, the rest is history.

How were you or your loved one diagnosed with CF? Share your diagnosis story below!