Exceptional in Every Way: Raising a Son Who is the Rarest of the Rare

During CF Awareness Month, Emily’s Entourage invites members of the cystic fibrosis (CF) community to share their stories. Today’s blog post is by Jason DeMott, the parent of a child with CF. 

When our third child, Turner Ryan DeMott, experienced delays in physical development, we were concerned. Our pediatrician was not.  But, when the challenge persisted, we pressed for answers. 

We spent months taking our son to specialists. Labs and imaging were ordered. Tests were conducted. Tissues were sampled. At the time, I called it the “Medical Mystery Tour.” Looking back, that characterization sounds too romantic. The misdiagnoses and futile chase for answers were frustrating and stressful. Although parents should resist Googling in a situation like this, that’s easier said than done. The results were frightening.

And then, with just the whiff of a dirty diaper, a gastroenterologist finally cracked the case. “Have you had him screened for cystic fibrosis?” she asked. On the heels of pursuing neuromuscular causes, the hypothesis changed. What if Turner’s symptoms were the result of poor digestion? GI issues are very common in CF patients, often resulting in delayed or stunted growth. A telltale GI problem associated with CF is the malabsorption of certain key nutrients – a symptom that can actually be reflected in a person’s stool. This doctor’s expert nose had caught something no one else did. 

A sweat test, the gold standard diagnostic tool for cystic fibrosis, was ordered and our CF journey unfolded. Genetic testing confirmed that our son has two rare mutations (including one nonsense mutation) of this progressive, debilitating, and life-shortening disease. The road to a clear diagnosis was long. We learned that assertively advocating for medical care is difficult, but critical. 

Although Turner’s pulmonologist has been with him since he was a toddler, the care team has expanded to include several specialists, located at three different hospitals. Recently, some of the most focused efforts have been with a specialized liver transplant team. Yes, a liver. Though CF is widely known as a respiratory disease, it is really a whole-body disease that impacts multiple organs and systems. Turner has what is called CF-related liver disease (CFLD), and his case is currently diagnosed as “end stage.” 

To our dismay, the research in this area is lacking. Turner probably will need a new liver. The standard process is to watch and wait until the damage begs a transplant. Thankfully, we recently learned there may be a surgical option to delay the transplant. With CF, glimmers of hope are important.

We have been relentless in pursuing the care needed for our son’s health. At 17, he is now learning the importance of advocating for himself – how to communicate concerns, ask questions, voice opinions, and double-check when things seem unclear – all in the face of serious medical challenges that affect his daily living. 

A lot has changed since Turner was born. There have been many groundbreaking successes for the CF community. There are life-changing, lifesaving mutation-targeted drug treatments that drastically reduce symptoms for 90% of people with CF.  We are amazed by the achievement, and we are happy for those who benefit from these medical miracles. However, for some, including our son, these treatments are not an option.

My kid is exceptional. He seems to have a photographic memory. He has a remarkable class rank. He is kind and generous. And he is among the 10% of people with CF who are the exception to the rule. Turner’s rare mutations render him ineligible for the wonder drugs.

For those in this outlying 10%, there are no miracle treatments — not yet. We are immensely thankful for Emily and her Entourage, who fight tirelessly for ALL people with CF. We remain hopeful that Turner, Emily, and the rest of the outlying 10% will have the same lifesaving treatments as everyone else. We believe this can happen. It simply must. 

Special thanks to Vertex Pharmaceuticals, Inc. for their tier 1 sponsorship of our CF Awareness Month campaign.