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Richard Engel, chief foreign correspondent for NBC News, announced on Thursday that his 6-year-old son Henry, who was diagnosed with Rett syndrome as a baby, had died.
In a tweet on Aug. 18, Engel wrote: “Our beloved son Henry has passed away. He had the softest blue eyes, an easy smile and a contagious laugh. We always surrounded him with love and he gave it back, and so much more.”
Engel’s tweet included a link to a page on the Texas Children’s Hospital site that explained Henry’s medical journey and how he was diagnosed with Rett syndrome. The condition is incredibly rare — especially for boys, said Dr. Tim Benke, a professor of pediatric neurology at the University of Colorado.
“It happens in about 1 in 20,000 to 1 in 10,000 female births, but it’s so rare that we don’t know how common it is in male births,” Benke told NPR.
What is Rett Syndrome?
Rett syndrome, as defined by the International Rett Syndrome Foundation, is a rare genetic neurological disorder that begins to appear between the ages of 6 and 18 months. Children begin to miss developmental milestones or lose skills they once had.
A diagnosis is based on a range of factors, including movement problems, loss of hand and language skills, and constant hand movements, “such as hand wringing, squeezing, clapping or tapping, putting hands in the mouth or washing, and rubbing movements,” according to the Mayo Clinic.
What do we know about the development of Rett syndrome?
The condition is very rare in men and is usually more severe than in women. Many begin to have symptoms at or shortly after birth, with significant problems occurring very soon after. These patients require aggressive medical intervention.
“There’s a lot we don’t quite understand yet,” says Benke. “There’s a discrepancy between male and female births, and we have some theories as to why. And we think the answer is that the mutation happens around the time the egg and sperm come together. And it’s more likely to happen in sperm.” than it’s in eggs. It’s so rare that we don’t know how common it is.”
This has presented a challenge to the medical community: Due to the rarity of this condition in men, it is difficult to find enough of them to participate in clinical trials for treatments.
While Rett syndrome may not be well known to the general public, the foundation said it’s at the forefront of research happening around the world.
Is There a Cure for Rett Syndrome?
“There is no cure for it,” Benke told NPR. “It’s a genetic disorder, you can’t go back and correct that spelling mistake [in the genes].”
“All treatments are systemic” he added. “You try to treat seizures and you try to improve things like muscle tone”, which in the case of Henry Engel was most problematic for him.”
At this time, anticonvulsants such as carbamazepine may be prescribed to control seizures, and sedatives such as clonidine may help reduce pain. Benke is hopeful that new therapies on the way will benefit people with Rett syndrome.
A drug to treat symptoms of Rett syndrome in women completed phase three trials, he said. The drug, trophintide, has been submitted to the FDA for approval, and researchers hope to hear from 2023. If approved, there’s a chance this therapy could also apply to men, Benke said.
“It’s not a home run, but it’s a therapy that will get us to first base that we think can be really helpful,” he added.
Benke emphasized that there are support systems for people with Rett syndrome and their families. Local and national associations, such as the Rocky Mountain Rett Association and the International Rett Syndrome Foundation, are committed to connecting people with specialized care, he said. “It’s important for people to know that it sounds hopeless, but there is hope.”