![]() "It's not a home run, but it's a therapy that's going to get us on first base that we think could be really helpful," he added.īenke emphasized that there are support systems for people with Rett syndrome and their families. If approved, there is a chance that this therapy could apply to males as well, Benke said. The drug, trofinetide, has been submitted to the FDA for approval, and researchers are hoping to hear back in 2023. Benke is hopeful that new therapies that are coming along will be beneficial to those with Rett syndrome, males and females.Ī drug to treat symptoms of Rett syndrome in women completed phase three trials, he said. "You try and treat seizures, and you're trying to improve things like muscle tone, which in the case of Henry Engel was the most problematic for him."Īt the moment, antiseizure drugs like oxcarbamazepine can be prescribed to help control seizures, and sedatives like clonidine can help reduce pain. "All the treatments are systemic," he added. "It's a genetic disorder, you can't go back and fix that misspelling. "At the moment there is no cure for it," Benke told NPR. While Rett syndrome may not be well-known among the general public, the foundation said that it is in the forefront of research happening across the globe. This has created a challenge for the medical community: Due to the rarity of this condition in males, it's difficult to find enough of them to participate in clinical trials for treatments. It's so rare that we don't know how often it happens." And it's more likely to happen in sperm than it is in eggs. And we think that the answer is that the genetic misspelling happens around the time the egg and sperm come together. "There is a discrepancy between male and female births, and we have some theories as to why. "There's a lot that we don't fully understand yet," says Benke. These patients require aggressive medical intervention. Many begin experiencing symptoms at or shortly after birth, with significant problems occurring very soon after. The disorder occurs very rarely in males, and is typically more severe than with females. What do we know about the development of Rett syndrome? These symptoms trigger clinicians to order specific testing to clarify the diagnosis by searching for a genetic misspelling in the MECP2 gene. Children start to miss developmental milestones or lose skills they'd once had.Ī diagnosis is based on an array of factors, including difficulties with movement, the loss of hand and language abilities, and constant hand motions, "such as hand-wringing, squeezing, clapping or tapping, putting hands in the mouth, or washing and rubbing movements," according to the Mayo Clinic. Rett syndrome, as defined by the International Rett Syndrome Foundation, is a rare genetic neurological disorder that begins to show up between 6 and 18 months of age. 21Ja6TOtjH- Richard Engel AugWhat is Rett syndrome? We always surrounded him with love and he returned it, and so much more. He had the softest blue eyes, an easy smile and a contagious giggle. But it's so rare we don't know how often it happens in male births," Benke told NPR. "It happens in about 1 in 20,000 to 1 in 10,000 female births. Tim Benke, a professor in pediatric neurology at the University of Colorado. The disorder is incredibly rare - particularly so for boys, said Dr. "Įngel's tweet included a link to a page on the Texas Children's Hospital site, which explained Henry's medical journey and how he was diagnosed with Rett syndrome. 18, Engel wrote: "Our beloved son Henry passed away. Richard Engel, chief foreign correspondent for NBC News, announced on Thursday that his 6-year-old son Henry, diagnosed with Rett syndrome as an infant, had died. Correspondent Richard Engel attends The 74th Annual Peabody Awards Ceremony at Cipriani Wall Street on in New York City.
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