American journalist’s son, 6, dies from rare genetic disorder: What is Rett syndrome?

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An American journalist is sharing that his 6-year-old son died following a years-long battle with a rare, incurable disorder called Rett syndrome.

On Aug. 18, NBC News chief foreign correspondent Richard Engel released a statement following his son’s death, saying, “Our beloved son Henry passed away. He had the softest blue eyes, an easy smile and a contagious giggle. We always surrounded him with love and he returned it, and so much more.”

Engel has been open about his son’s diagnosis for years, sharing his family’s story in the hopes that other parents in similar situations won’t feel alone.

In a 2018 interview with TODAY, Engel recalls the moment he found out about his son’s diagnosis, calling it the worst day of his life.

“It means lifelong, permanent, untreatable physical and intellectual impairment,” Engel says. “Unfortunately, the more we learned about it, the worse the news got.”

Now, Engel says Henry’s legacy lives on and researchers are using his son’s cells to help cure Rett syndrome so “others don’t have to endure this terrible disease.”

What is Rett syndrome?

Rett syndrome is a genetic neurological disorder that primarily affects girls due to genetics.

It affects one in every 10,000 female births, according to the Manitoba Rett Syndrome Association.

Rett syndrome is caused by loss of the MECP2 gene function, which is located on the X chromosome.

Girls have two X chromosomes and boys have one, which is why females are more likely to be diagnosed with Rett syndrome. Dr. Margaret Nowaczyk, a physician geneticist and professor of pediatrics and pathology at McMaster University, says this is also why the illness is more severe in boys.

“If they [males] get the change on their X chromosome, they don't have another healthy X chromosome to make up for it,” Nowaczyk tells Yahoo Canada.

The Ontario Rett Syndrome Association states that if a gene mutation does happen in a boy, the baby usually does not survive past birth or is very sick when they are born and may not live for long.

What are the symptoms of Rett syndrome?

A child with Rett syndrome will typically develop normally before going through a period of regression.

Nowaczyk says parents may not realize any changes in their child for the first six months of them developing the disorder.

“You may not see any difference from other children, especially if you are a first-time parent because the delays may be very subtle,” she says. “The baby may have less eye contact or not be as interested in toys; They may be delayed in learning to sit or reach for toys.”

During regression, which typically happens between six months and three years of age, the child will often experience loss of speech, movement and hand use. Most affected children also suffer from frequent seizures, breathing problems and stiff muscles. Oftentimes, girls diagnosed with Rett syndrome will also have smaller-sized heads.

Individuals with Rett syndrome will not gain back lost skills, but some may still learn to walk and many can use alternative means of communication, like “eye pointing.”

The Children’s Hospital for Eastern Ontario notes the illness is not a progressive neurodegenerative disorder and that women can live well into their 50s and 60s.

Nowaczyk notes the disorder varies between girls and boys, with girls having a “much less severe form” of the disorder.

Up until a few years ago, it was believed only girls suffered from the condition.

“We thought boys didn't get it at all because many of them would die as newborns with a severe encephalopathy, which is a severe brain dysfunction, and very few of them survive,” the physician says.

There is no treatment for Rett syndrome

There is no cure for Rett syndrome and treatment is often designed around the symptoms the person is experiencing.

“It's managing the symptoms the disease causes rather than treating the disease itself,” Nowaczyk says.

Different methods of treatment may include physiotherapy, having a tube inserted into the stomach to help with feeding along with speech and language therapy.

While there is currently no disease-modifying therapy, research is ongoing in both Canada and the United States.

Dr. Huda Zoghbi, director of the Jan and Dan Neurological Research Institute at Texas Children’s Hospital, worked with the Engel family. Engel tells TODAY that Zoghbi’s team of researchers are using his son’s cells to work towards a cure.

“We’ve learned so much from so many patients with Rett syndrome, but because [Henry’s] mutation was a little different, it allowed us to think slightly differently about other approaches,” Zoghbi says.

Parents should also seek support, expert says

Nowaczyk says it’s not just the affected children who will need support with their diagnosis, but parents should seek it out as well. She advises contacting different organizations like the Ontario Rett Syndrome Association, which she says provides support and education for families.

Looking up various social media groups on platforms like Facebook can also be beneficial.

“Parents talking to parents of similarly affected children are the best resources,” she says. “I may know what the genetics of it is, but I don't know what they go through day to day.”

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