Richard Engel was embedded with troops in South Korea last fall, preoccupied with talk of a possible North Korean missile test, when he got word that his 2-year-old son Henry’s doctor needed to speak with him.
The NBC News Chief Foreign Correspondent and his wife Mary had first spotted developmental delays in their son more than a year prior, eventually turning to genetic testing, and this would be their long-awaited results. But the broadcaster says he was not prepared for the news he received: His son has Rett Syndrome, a rare genetic neurological disorder that leads to severe physical and cognitive impairments.
As Engel, 44, began realizing the implications of the diagnosis —“My son is probably not going to walk, probably not going to speak, probably not going to have any mental capacity beyond the level of a 2-year-old,” he tells PEOPLE exclusively in this week’s issue, on stands Friday — he returned to his seat on the military convoy, numb.
“It was the middle of the night, and the public affairs officer was talking to keep us awake, telling us about her son joining the football team, and taking the SATs,” he says. “I was thinking, ‘There’s going to be no football team. There’s going to be no SATs.’ I started to really mourn the future I thought we were going to have with Henry.”
In the four months since the family received the news of the devastating diagnosis, he and Mary, 42, say they have processed their grief, sought out every available form of physical therapy and made practical plans for a future that will likely see their son outlive them while needing full-time care.
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Engel also began working his contacts, connecting with Dr. Huda Zoghbi, of Texas Children’s Hospital and Baylor College of Medicine, the preeminent Rett Syndrome researcher who first pinpointed the gene that causes the disorder.
Zoghbi immediately detected an anomaly in Henry’s case: what appears to be a milder mutation of his MECP2 gene, which in turn causes only a partial decrease of the vital MECP2 protein. (Most Rett cases see a full mutation of the gene on the X-chromosome, which is why the illness generally afflicts girls and is almost always deadly when it does occur in boys, who only have one X chromosome).
Convinced Henry’s unique case might unlock a cure for Rett Syndrome, Zoghbi dedicated her lab to studying him. Now, she says, “The strategy is to research cells, monitor the level of the protein and identify genes or drugs that can boost levels of the protein to correct the symptoms.
For his parents, the idea that Henry’s own cells may lead to a cure has proven the glimmer of hope they desperately needed.
“Talking to them was the first time we had hope,” says Mary, blotting away tears. “Knowing there’s somebody dedicating her career to this, it gets us through.”
Though Zoghbi cautions they are only at the beginning of the research phase, Engel clings to the prospect that Henry may soon have treatment options. “If Henry can cure himself or lead to a cure, it would give his life meaning,” he says. “It would give his life a significance beyond the significance of most lives.”
Engel and Mary first noticed signs that something was amiss with their son shortly after he was born. Mary had a normal pregnancy, but as a newborn, Henry had trouble gaining weight, breastfeeding or sucking on a bottle. By 6 months, his parents noticed he was missing milestones, like sitting unassisted or grasping objects.
“You hear these stories, that boys develop slower than girls,” Engel says. “So we thought there was still a chance that he was just a late bloomer. That he was going to snap out of it.”
When, by 18 months, he was not sitting, standing or walking, and hadn’t developed any language, the couple decided to turn to genetic testing. After an agonizing six-month wait, the results came in.
Mary, a stay-at-home mom since having Henry, says the news felt “like someone punched me in the stomach.” It also brought up serious considerations for their son’s future. “We had to have really practical conversations in terms of, if he needs a wheelchair, do we have to move? And what are we going to do for Henry when he is older, once we’re gone?”
Though there is currently no treatment for Rett Syndrome, the family has been engaging Henry in up to seven different forms of physical therapy a week to help him advance physically and cognitively. In recent weeks, he made a breakthrough, finally sitting up unassisted.
“I think we practiced that a thousand times,” says Mary. The pair have had to set modest goals. “We’re not looking for huge milestones,” she explains.
“Anything is good as long as it’s progress,” adds Engel. “You hear parents say, ‘I woke up this morning and went down to the crib and the baby was standing.’ That didn’t happen in our case and it doesn’t seem to be in the cards. So we’re focused on the little things.”
For more information on Rett Syndrome and to donate to Dr. Zoghbi’s research, go to www.duncannri.org.