Rare Disease Fellowship Teaches Me About Genomics and Empathy

The Duchenne muscular dystrophy community is reaping the benefits of innovations in rare disease diagnosis, research, and care. That’s part of what I learned last week while training to cover rare diseases with the National Press Foundation (NPF).

I was selected for the NPF’s Rare Disease Journalism Fellowship. As part of it, I’ll receive a grant to report a story of my choice. Last week’s three-day training, in which I learned from the brightest in the rare disease advocacy community, biotech industry, and government, was part of this fellowship.

Not only did I learn, but I also had a chance to think more about my dual role as a Duchenne patient who covers his own rare disease community, among others. My perspective on rare diseases changed because of the diverse group of international fellows and panelists I was with.

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Individualized medicine was referenced several times. It’s taking hold as cheap and rapid whole genome sequencing becomes available in the U.S., better systems for clinical data analysis are employed, and more conditions are added to newborn screening panels. This also helps the development of Duchenne therapies.

Gene therapy and gene editing, at least for now, have shown the most promise, according to Peter Marks, PhD, director of the Center for Biologics Evaluation and Research at the U.S. Food and Drug Administration. He told NPF fellows it was the most straightforward way to treat rare conditions.

With gene therapy, scientists can identify defects in a mutated gene and correct them. I believe that as this technology is deployed, we can address certain issues, such as an immune response and the size of the therapies’ viral vectors, so that people with Duchenne are helped. (Viral vectors are used to deliver genetic material into the body’s cells.)

All sessions were recorded, so fellows didn’t have to take notes and could think about story ideas instead. It also gave me time to reflect on where I, as a journalist and patient, fit into rare disease coverage. I realize that my experience as a patient gives me empathy for the people I interview and brings a rich amount of background knowledge to every story.

A journalist’s empathy is heightened

We heard a powerful story from Richard Engel, chief foreign correspondent of NBC News, who lost one of his sons, Henry, to Rett syndrome. I asked Engel, who was coming to us via Zoom from a military convoy in Odesa, Ukraine, how and why he went public with Henry’s story. He was quick to say that anything he reported on Henry was not necessarily journalism, but rather sharing his personal story with the hope that it would move research forward.

Engel also said that caring for Henry revived his compassion for the people he sees displaced, killed, or injured in war zones. The decades of reporting he’s done in these areas had given him compassion fatigue. But seeing Henry as a bundle of light despite his disease renewed Engel’s empathy.

I always attempt to be objective and unbiased in the articles I write. I still believe that objectivity is the standard for journalism. But Engel showed me it’s OK to use my storytelling to help the Duchenne community in a nonjournalistic capacity, as well as as a reporter. He showed me that I should be leaning on my experience as a Duchenne patient as I ask sources questions, write articles, and approach other patients for interviews. As much as I don’t want to admit I have a complex neuromuscular condition, it’s part of me and can be used to deepen my coverage.

Empathy is so important when covering rare diseases, as Engel described in his segment. That’s especially true in developing nations, which are sorely behind in genomic medicine.

Attendees from these nations, including Kenya, Mongolia, and Pakistan, referenced their countries’ lack of access to doctors, clinical trials, and genomic data. I imagined being born with Duchenne in a country with no knowledge of the condition or its treatment options. It made me feel blessed to live where I do, but I also felt a responsibility to help reveal the difficult situations of rare disease patients across the world.

Journalists are often catalysts for change. They’re among the ones who bring to light what was once in the dark. With this training and fellowship, I hope to continue that achievement in the rare disease field.

As a Duchenne patient myself, I’m also excited for what the future holds as individualized medicine and the study of genomics accelerate. The more that data about the human genome are collected and analyzed, the more we can uncover the secrets of our DNA and save people’s lives.

These were three long days of fellowship training, but they’ll no doubt provide me years of inspiration.

Note: Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to muscular dystrophy.