When he received the official diagnosis of his son Henry’s rare disease, NBC News Chief Foreign Correspondent Richard Engel was traveling in a convoy in South Korea. Engel joined a session from a convoy in southern Ukraine to share his family’s agonizing struggle with Rett Syndrome, which ended in Henry’s death at age 6. Engel spoke at an NPF program on covering rare diseases in hopes his story would give journalists a deeper insight into what families and patients endure and spark more contextualized coverage. [Transcript | Video]
Here are highlights from Engel’s session:
There’s really no way to prepare for a rare disease diagnosis. Engel and his wife Mary did all the right things before Henry’s birth in September 2015: basic genetic scans, prenatal testing, etc. Their joy at his arrival soon morphed into worry when he wouldn’t eat and didn’t move around like other newborns. Assurances from friends and relatives that perhaps he was just a “late bloomer” didn’t help. By the time they were feeding him with an eye dropper, they knew there was something wrong. On his first birthday, other children were “leaps and bounds” ahead of Henry, Engel said.
Not knowing can deepen the fear and anxiety for families. The Engels suspected that the answer lay in genetic testing. “It wasn’t until we got the full exome scan, basically a breakdown of his entire genetic code, that we knew what the problem was. It was so unusual what he had, it took six months for them to give us the results because the geneticist kept going over and over it again, and they didn’t understand the results.” Henry had a genetic disorder called Rett syndrome when it occurs in girls. It causes a rapid regression in normal development at about age 2. The version that occurs in boys is even rarer and so severe that they rarely survive childbirth.
Rare-disease families must absorb a lot of complicated information. Engel shared his grasp of genetics, gleaned from countless doctor’s appointments and endless online research. In layman’s terms, Henry had a glitch in his genetic code, which depending on its severity, determines how severe the physical impact will be. “And then they told us, ‘Yes, he has a mutation of the MECP2 gene.’ And I could see a picture of this genetic code. And while everybody else’s genetic code should look one way, his had a typo in it.” Engel said the MECP2 gene is essential to the brain’s ability to control and communicate. Henry’s genetic code was broken just enough to significantly impair his functioning.
It can be lonely and frustrating when onlookers don’t understand rare disease. Engel conveyed a central conundrum for many parents of babies with rare disease. In the first year or so, they could bundle Henry up in his pram, and because he had no physical abnormalities, he looked like any other baby. “But suddenly when he was bigger and we needed to put him in more of a supported seating position, which is important for the spine and all the rest, it was obvious now and it felt very lonely. Suddenly, you’re now in the playground pushing a child in a wheelchair, and I was seeing, all these other little kids holding mommy and daddy’s hands, running to school, swinging on the swings, playing in the park. And we weren’t doing any of that.” Worse, the Engels knew the prognosis was grim.
Geography and income determine quality of rare disease treatment. Engel acknowledged that his good job with NBC, his proximity to the best health care and genetic specialists, and the fact that his wife Mary did not have to work, all gave his family the privilege to focus on Henry’s care. “If you can’t afford that, you have to work, or you’re in a situation where you’re living in poverty, and you can barely feed yourself, it’s almost too hard to describe,” Engle said. “I’ve seen … rare diseases in societies that are under stress, and it’s terrible. It’s very disturbing. Usually what happens is these kids get neglected, they get locked in some room, they get passed onto some other relative, or they get slammed into some institution.”
Journalists must let empathy—not sympathy—inform coverage of tragedy. One of Henry Engel’s gifts to his father was to reconnect him to empathy. Engel said that after years of covering war and disaster, he was guilty of feeling more than a little bit of compassion fatigue. His son’s rare disease battle ripped it all away. “It tore me back to my soul. I’ve never cried so much in my entire life as I did for Henry. I cried every single day. Every single day, because you want more for him. And when you see him struggling, you want more and you want to do better. And so, I think it broke me down again in a way that may have been positive, it scraped away some of the hard calli that had built up over time.”
This program was funded by Fondation Ipsen. NPF is solely responsible for the content.
