Words of Wisdom: How Writing Prepared Me to Fight My Son’s Rare Disease

Complex orbital tumors. A mysterious pediatric dysautonomia case. Comparative effectiveness research. Know anything about those things? At some point in my career as a writer who routinely tackles impermeable topics, I knew enough to write cogently and reliably about each of those examples and more. I have a ravenous appetite for the wonders and intricacies of medicine and health care and may have become a physician had my eighth-grade algebra course—led by a 1980s relic who thought girls should not be STEM-literate—not gone so terribly awry. 

Doctors and nurses routinely ask me during personal appointments whether I am a health care provider, and I usually take that as a compliment. My medical literacy shines through, apparently, and it makes clear I’ve read up on the latest, thank you, if only with a novice eye. But I wasn’t prepared for the same question when it came to one of my children. As a parent, you’re wired at a cellular level to keep your children alive, so when one of them is on an exam table, it’s high stakes. The questions are more urgent, the answers deeply analyzed. Those patients you wrote about, especially the kids, have faces and names. They have worried parents. Because when you’re reading or hearing about a serious condition affecting your child, it’s no longer fascinating—it’s mercilessly frightening. 

It was this fluency in medicine that led me to understand that my son Charlie needed a creatine kinase (CK) test as he approached his third birthday last summer. It’s a simple blood test to measure the level of an enzyme that leaks into the bloodstream at higher levels when muscles are suffering damage at an outsized rate, and it should be given to any boy with developmental motor delays and low muscle tone. Because there’s about a 1 in 3,500 chance that boy has a condition called Duchenne Muscular Dystrophy. My boy does. But I’ve got him.

I wish with every exon in my DMD gene (that’s the one that makes your muscles work, the one that doesn’t work right in Duchenne) that I didn’t need the skill of schooling up quickly on a rare and complex disease for a little person I love beyond measure. But since I do, I’m grateful that what I do for a living could help my boy live longer and better.

To learn more and follow along as Jennifer and Charlie tackle Duchenne (with us cheering them on), visit curecharlie.org