Who is Richard Engel? Whose son died of Rett syndrome |What is Rett syndrome?

NBC News chief foreign correspondent Richard Engel and his wife, Mary, lost their beloved son Henry to a rare genetic neurological disorder called Rett syndrome. His son, died eight months ago at age 6 — but he’s still at the center of the research that will hopefully prevent other children from losing their lives to the neurological disorder Rett syndrome. you can watch this video of Henry.

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Rett Syndrome

Henry’s physician, Dr. Huda Zoghbi, and her team is researching the genetic cause of Rett syndrome with Henry’s body and to develop treatments. Because of Henry’s unique mutation, as a geneticist and researcher, Zoghbi and her team using Henry’s cells in ongoing research and finding a cure for Rett syndrome.

Dr. Huda Zoghbi said “Studying Henry’s cells helped us to think a little differently, to find yet one more approach for developing therapies for Rett,”. If we’re successful, that can help so many patients. That would be a dream.

What is Rett Syndrome

Rett syndrome (RTT) is a rare genetic neurological and developmental disorder that typically becomes apparent after 6–18 months of age and affects the way the brain develops. This disorder causes a progressive loss of motor skills and language. Rett syndrome primarily affects females.

Table of Contents

Rett syndrome was first described in the medical literature by an Austrian physician named Andreas Rett in 1960s. Many researchers now consider Rett syndrome as part of a spectrum of disease relating to mutations of the MECP2 gene.

In 1999, Lebanese-American physician Huda Zoghbi discovered the mutation that causes the condition.

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Rett Syndrome Causes

Rett syndrome is due to a genetic mutation in the MECP2 gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited.It occurs almost exclusively in girls, boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing.

There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, physiotherapy, and leg braces may also be useful depending on the needs of the child. Many of those with the condition live into middle age.

It has been argued that Rett syndrome is in fact a neurodevelopmental condition as opposed to a neurodegenerative condition.

Diagnosis of Rett Syndrome

Rett syndrome diagnosis involves close observation of the child’s growth and development to observe any abnormalities in regards to developmental milestones. A diagnosis is considered when decreased head growth is observed. Conditions with similar symptoms must first be ruled out.

Treatment of Rett Syndrome

Currently there is no cure for Rett syndrome. Treatment is directed towards improving function and addressing symptoms. A multi disciplinary team approach is typically used to treat the person throughout life.

Bottom Line

Gene therapy is under study in animal models to achieve regulated expression of a normal MECP2 gene. Henry’s physician, Dr. Huda Zoghbi, and her team is researching the genetic cause of Rett syndrome with Henry’s body and to develop treatments. Hope you like the article and knew something about this rare syndrome. Please read this also :-