Journalist Reveals Young Son’s Battle With Rett Syndrome

NBC News Chief Foreign Correspondent Richard Engel covers wars, revolutions and international conflicts. Now he and his family are bravely revealing their own battle right here at home: his two-year-old son Henry’s diagnosis with a genetic disorder called Rett syndrome.

According to People.com, Engel was embedded with troops in South Korea last fall when he first learned his son’s doctors needed to speak with him. After getting genetic testing following Henry’s developmental delays, the family learned he had a disorder called Rett syndrome.

According to Heathline, Rett syndrome is a genetic neurological and developmental disorder that can keep a child from walking, crawling or communicating. In Henry’s case, Engel said doctors do not believe his son will ever walk, talk, or have the mental capacity beyond that of a toddler. There is currently no cure for Rett syndrome.

Rett syndrome is much more common in girls, and when diagnosed in boys, it is expected to be more devastating, even more deadly. Nevertheless, in an essay he wrote for Today.com, Engel and his wife Mary, a former TV producer, said they are optimistic about treatment for Henry.

What’s most surprising about Rett syndrome — and why it’s difficult to diagnosis before birth — is that babies will develop normally at first. After 12 to 18 months, babies with Rett syndrome will lose their skills and not develop new ones.

The family of three appeared NBC’s” Today” in January to talk publicly about Henry’s genetic disorder and how it has impacted their lives.

A sign of hope, Engel said, is that the rarity and individuality of Rett syndrome may actually work in Henry’s favor, especially since it is so uncommon in boys. “In that rarity there may be the key to his own treatment and a treatment to many others,” he said.

What Do We Know About Rett Syndrome?

Rett syndrome occurs when the genetic mutation of the gene MECP2 results in the absence of a protein. That protein is needed to direct other genes, the way you need traffic lights to control the flow of vehicles on the road. The red, green and yellow lights tell drivers to stop, go or slow down. Those other genes may help parts of the brain with emotional, motor or sensory skills.

As the genetic mutation impacts development, the disorder can be slow to diagnose. In fact, it is often misdiagnosed as an autism spectrum disorder at first.

According to the Mayo Clinic, some of the common symptoms of Rett syndrome include:

• Slowed growth and a smaller than normal head size
• Loss of coordination
• Loss of communication skills
• Less interest in people, toys and surroundings
• Repetitive and abnormal hand movements
• Increasing agitation
• An irregular heartbeat

The mutation occurs randomly and is very rarely inherited. One option for parents is genetic testing, especially if you have a family member with the disorder.

Rett syndrome is no doubt a challenge to which many special needs families will relate.  As Engel wrote on Today.com, “We also know that we are only at the starting line of a marathon.”