Richard Engel was embedded with troops in South Korea last fall, preoccupied with talk of the possible North Korean missile test, as he got word that his 2-year-old son Henry’s doctor required 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 embracing dna testing, which would be their long-awaited results. But the broadcaster says he wasn’t ready 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 from the diagnosis -“My son may not be going to walk, probably not going to speak, probably not going to have any mental capacity past the level of a 2-year-old,” he tells PEOPLE exclusively in this week’s issue, on stands Friday – he returned to his seat around the military convoy, numb.
“It was the middle of the night time, and also the public affairs officer was speaking with stop 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 likely to be no SATs.’ I started to really mourn the future I figured we were likely to have with Henry.”
In the 4 months because the family received this news of the devastating diagnosis, he and Mary, 42, say they’ve processed their grief, searched for every available form of physical therapy and made practical plans for any future that will likely see their son outlive them while needing full-time care.
Engel also began working his contacts, connecting with Dr. Huda Zoghbi, of Texas Children’s Hospital and Baylor College of drugs, the preeminent Rett Syndrome researcher who first pinpointed the gene that triggers 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 merely 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 it is more often than not deadly if this does exist 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 analyze cells, monitor the amount of the protein and identify genes or drugs that may boost levels of the protein to correct the symptoms.
For his parents, the concept that Henry’s own cells can lead to a remedy has proven the glimmer of hope they much needed.
“Talking to them was the first time we’d hope,” says Mary, blotting away tears. “Knowing there’s somebody dedicating her career for this, it gets us through.”
Though Zoghbi cautions they are limited to the start of the research phase, Engel clings towards the prospect that Henry may soon have treatments. “If Henry cure himself or result in a cure, it would give his life meaning,” he states. “It would give his life a significance past the significance on most lives.”
Engel and Mary first noticed signs that something was amiss using their son soon after he was created. Mary were built with a normal pregnancy, but because a baby, Henry had trouble gaining weight, breastfeeding or sucking on the bottle. By Six 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 an opportunity he only agreed to be a late bloomer. He would snap from it.”
When, by 1 . 5 years, he wasn’t sitting, standing or walking, and hadn’t developed any language, the couple chose to turn to genetic testing. After an agonizing six-month wait, the results arrived.
Mary, a stay-at-home mom since having Henry, says this news felt “like someone punched me within the stomach.” Additionally, it raised serious considerations for their son’s future. “We had to have really practical conversations when it comes to, if he requires a wheelchair, will we have to move? And just what shall we be likely to do for Henry as he is older, once we’re gone?”
Though there is certainly no treatment for Rett Syndrome, the family continues to be engaging Henry in up to seven variations of physical therapy a week to assist him advance physically and cognitively. In recent weeks, he made a breakthrough, finally sitting up unassisted.
“I think we practiced that the thousand times,” says Mary. The happy couple have experienced to create modest goals. “We’re not looking for huge milestones,” she explains.
“Anything is nice as long as it’s progress,” adds Engel. “You hear parents say, ‘I awoke this morning and went down towards the crib and also the baby banded.’ That didn’t happen in our case and it doesn’t seem to be in the cards. So we’re centered on the small things.”
For more information on Rett Syndrome and also to donate to Dr. Zoghbi’s research, go to www.duncannri.org.