Richard Engel is best known as a chief foreign correspondent for NBC, but yesterday, Tuesday, January 30, he appeared on TODAY, alongside his wife Mary Forrest, to discuss being a proud father of a 2-year-old boy named Henry. Richard and Mary's little boy has a rare, debilitating genetic disorder, a variation of Rett syndrome.
NBC reports that Rett syndrome usually occurs in girls — about one in 10,000 are diagnosed with the condition — because the mutated gene responsible for symptoms is linked to the X-chromosome. Girls have two copies of the X, which means they have a functional copy of the gene to somewhat mitigate the effects of the mutated one. That means about 50 percent of their cells will make normal copies of the protein MeCP2, which is present in cells throughout the body, especially brain cells. On the other hand, boys, who have an X and a Y, only have the mutated gene, which generally results in their death either in utero or shortly after they are born.
Henry has managed to survive, because his mutation isn't considered severe. Nonetheless, it has affected his cognitive and motor skills. And at present, there is no treatment or cure. But Henry's cells may give researchers clues that could lead to one or both.
Richard and Mary sat down with Savannah Guthrie and Hoda Kotb to discussed their journey with their little one so far. As Henry got close to turning two years old, the couple noted that their son was unable to talk or clap his hands, walk or sit up straight. So, they took him to every doctor they could think of, and Richard was with U.S. troops in South Korea when he received the results of a genetic scan. “I called the doctor and he said, 'We found something. It’s very, very severe. It’s life long, not treatable,’” he recalled. “I was in a state of shock. I got back into this convoy, shaking. It was the worst day of my life.”
Of course, the couple continues to face many challenges related to their son's condition, but there is a silver lining: Because Henry's mutation is so unique, it may actually offer researchers the ability to develop a treatment. Dr. Huda Zoghbi, director of the Duncan Neurological Research Institute at Texas Children’s Hospital and the same researcher who helped discover the mutation that causes Rett syndrome, told TODAY: “Henry's mutation is unique in the world. But because it's unique is what makes it so valuable. Sometimes from the rarest thing, you can learn the most. ... We know today there are hundreds of genes that can cause autism or can cause intellectual disability or complex psychiatric disorders. Using Henry's cells to study Rett syndrome, when successful, can be applied to any of those diseases."
For now, Henry is a lucky little boy to have the support of loving parents who are endlessly devoted to navigating their son's medical path. He does daily physiotherapy and visits the hospital twice a week for appointments to help stimulate his senses. Mary, a former TV producer, focuses on keeping her L.O. moving and using every day moments (like meals) to build his motor skills. “I'm basically his manager for that and cheerleader,” Mary told Hoda and Savannah. “It gives me purpose, and it's important. I see it helping him.”
Not that it doesn't weigh on her at times. "It's hard. Sometimes I really have to gear myself up,” Mary said. “I see a 9-month-old doing more than him. It’s easy to get lost in this." She also explained that the process has been "raw, it's painful and very personal" and "lonely," but ultimately, she's grateful for the chance to reassure others in the same position that they're not alone.
The couple is also heartened by the research being done by Zoghbi. Mary shared, "It gives us hope. It gets us through every day."
Richard Engel and Mary Forrest encourage those who want to support Dr. Zoghbi's research to visit the website for the Duncan Neurological Research Institute at Texas Children's Hospital.