NBC’s Chief International Correspondent Richard Engel broke the news of his 6-year-old son Henry’s death in August 2022. As a result of his inherited neurological disease, Henry could not speak, walk, eat, or breathe independently. In this article, we’ll talk about what exactly is Rett Syndrome.

This disease or illness has no known treatment or cure at this time. When Engel’s daughter was diagnosed with Rett syndrome, he did not hide the ups and downs of his family’s experience; rather, he shared them with the world. However uncommon, it is understandable that parents would desire additional information after hearing the news. Why does it happen? Mutations in an X-chromosomal gene called MECP2 are the underlying cause of Rett syndrome.

The mechanism of mutation may differ. The mutation responsible for Rett syndrome is entirely random and is not passed down from parents. In 1999, it was discovered that a change in the gene encoding the protein MECP2 was responsible for Rett syndrome.

However, in extremely rare cases, a gene mutation might be handed on from parent to child.Usually, this genetic error occurs around the moment the egg and sperm fuse, but we don’t know why. In extremely rare cases, a mother with an unaffected MECP2 mutation can pass it on to her child, causing the child to develop a variant of Rett syndrome.

According to the International Rett Syndrome Foundation: “Over 99.5% of the time, the mutation does not run in families and appears to be unique to this conception. Before planning to have further children, the couple can get checked for genetic abnormalities.

A qualified genetic counselor is the best person to discuss your family’s options with.”Do More Females or Males Have Rett Syndrome?Since of its location on the X chromosome, the MECP2 gene mostly affects females (because they have two X chromosomes).

It’s more likely to affect girls because they have two X chromosomes than boys because they only have one Y chromosome.Rett syndrome has been underdiagnosed or misdiagnosed in boys since doctors didn’t realize it was present in males for a long time. The actual prevalence is unknown, although according to the International Rett Syndrome Foundation, it affects about 1 in 10,000 females and far less frequently impacts boys.

The condition is typically more severe in males.The X chromosome is where you’ll find the gene. When compared to males, females have two X chromosomes. Having two X chromosomes increases a woman’s chance of living in a ripe old age. However, because boys only have one X chromosome, they are significantly more vulnerable.

The average lifespan is a few years at most. As a youngster with Rett syndrome, Henry outlived most others his age. How can one recognize the signs of Rett Syndrome?

These are some of the most often reported symptoms of Rett syndrome, as described by the International Rett Syndrome Foundation: Involuntary clapping, tapping, wringing, or washing-the-hands-like movements of the hands, Silence, Loss of motor function in hands, normal breathing difficulty, Muscle atrophy and loss of movement.

Scoliosis, Seizures, and Reduced pace of development in the cranium, limbs, and extremities because of its more regular course of development, Rett syndrome is more readily apparent in infant females. After a time of typical development throughout the first 18 months of life, they regress, during which they stop using their hands and speech and instead begin to exhibit these peculiar hand gestures.

We’re hoping that by raising awareness of these symptoms, both families and doctors will seek out the specialized care they need. Recognizing Rett syndrome in males is more challenging. It’s not as well-kept as female hair. Problems for the boys can begin shortly after birth, and they may have trouble breathing, have low muscle tone, and never achieve typical growth in the first year of life.

This is true for boys with the most severe form, but it is also true for boys who have intellectual disabilities or developmental delays. How can one determine if a child has Rett Syndrome? The first step in diagnosing Rett syndrome is the identification of symptoms by a parent or pediatrician. If further testing is needed, a referral to a geneticist is the next step.

A specialist may decide to conduct a battery of tests on the child, including an examination of the MECP2 gene. In order to make a diagnosis, genetic testing must first be performed. The MECP2 gene must be checked for the Rett disease genetic misspelling. We use a panel test, which is similar to using a spellchecker on one’s genetic code, to look for typos.

You’ll get advice on what we might find when we get the results of that test before we even order it. Because mutations in MECP2 can result in illnesses other than Rett syndrome, the symptoms of a loss of hand usage, loss of speech, gait problems, and repetitive hand movements are required for a diagnosis.

As a result of greater familiarity with Rett syndrome symptoms in females, they are typically diagnosed earlier than their male counterparts. The average age of diagnosis for girls is under 3 years old, whereas for boys, it’s over 3 years old. I’m getting started on a study to see if I can get an answer for young men. The most typical complaint I hear from families I’ve met at conferences is that their child wasn’t diagnosed until they were 5 or older, or even later.

The fact that their child is male has led some doctors to rule out Rett syndrome as a diagnosis. Henry’s case has unfortunately proven that it can also affect males. Is there a cure for Rett Syndrome? Lifespan in people with Rett syndrome varies greatly depending on the severity of the disorder.

Some people will make it to their middle years or beyond. When compared to men, women have a longer median life expectancy. It’s possible that girls with Rett syndrome will live a full lifespan, but they’ll need constant care their whole lives. Boys rarely make it past the age of two. Henry stood out as an outlier. Help for those with Rett SyndromeRett syndrome is currently untreatable.

Therefore treatment focuses on easing the symptoms rather than eliminating them. Children may benefit from, among other things, speech and physical therapy, as well as nutritional supplements. Scientists are continually probing for novel therapies. One is under development. However, there is currently no authorized or specialized therapy for Rett syndrome.

The term for this is Trofinetide. A Phase 3 clinical trial has just concluded, and we anticipate receiving FDA approval for widespread usage sometime around 2023. All the symptoms of Rett syndrome were evaluated in the clinical trials, and the results show that the medicine is effective in reducing or eliminating them. 6 In other words, it’s not a home run, but it does get us somewhere.

Your child’s physician may recommend that you contact the International Rett Syndrome Foundation for more information and support after a diagnosis of Rett syndrome. A list of clinics that treat Rett syndrome is provided, together with contact information for those clinics and downloadable, in-depth care manuals written by experts in the field.

A pediatrician, neurologist, physiatrist or rehabilitation specialist, and gastroenterologist should be the bare minimum for the family’s care team. They also require the services of a dietician, physical therapist, and speech therapist to round out the team. Dealing with your child’s Rett syndrome diagnosis can be emotionally draining and difficult. However, solutions are being developed.NBC’s Chief International Correspondent Richard Engel broke the news of his 6-year-old son Henry’s death in August 2022.

As a result of his inherited neurological disease, Henry could not speak, walk, eat, or breathe independently. This disease or illness has no known treatment or cure at this time.

When Engel’s daughter was diagnosed with Rett syndrome, he did not hide the ups and downs of his family’s experience; rather, he shared them with the world. However uncommon, it is understandable that parents would desire additional information after hearing the news.

Why does it happen?

Mutations in an X-chromosomal gene called MECP2 are the underlying cause of Rett syndrome. The mechanism of mutation may differ.

The mutation responsible for Rett syndrome is entirely random and is not passed down from parents. In 1999, it was discovered that a change in the gene encoding the protein MECP2 was responsible for Rett syndrome. However, in extremely rare cases, a gene mutation might be handed on from parent to child.

Usually, this genetic error occurs around the moment the egg and sperm fuse, but we don’t know why. In extremely rare cases, a mother with an unaffected MECP2 mutation can pass it on to her child, causing the child to develop a variant of Rett syndrome.

According to the International Rett Syndrome Foundation: “Over 99.5% of the time, the mutation does not run in families and appears to be unique to this conception. Before planning to have further children, the couple can get checked for genetic abnormalities. A qualified genetic counselor is the best person to discuss your family’s options with.”

Do More Females or Males Have Rett Syndrome?

Since of its location on the X chromosome, the MECP2 gene mostly affects females (because they have two X chromosomes). It’s more likely to affect girls because they have two X chromosomes than boys because they only have one Y chromosome.

Rett syndrome has been underdiagnosed or misdiagnosed in boys since doctors didn’t realize it was present in males for a long time. The actual prevalence is unknown, although according to the International Rett Syndrome Foundation, it affects about 1 in 10,000 females and far less frequently impacts boys. The condition is typically more severe in males.

The X chromosome is where you’ll find the gene. When compared to males, females have two X chromosomes. Having two X chromosomes increases a woman’s chance of living in a ripe old age. However, because boys only have one X chromosome, they are significantly more vulnerable. The average lifespan is a few years at most. As a youngster with Rett syndrome, Henry outlived most others his age.

How can one recognize the signs of Rett Syndrome?

These are some of the most often reported symptoms of Rett syndrome, as described by the International Rett Syndrome Foundation:

  • Involuntary clapping, tapping, wringing, or washing-the-hands-like movements of the hands
  • Silence Loss of motor function in hands
  • Abnormal breathing difficulty
  • Muscle atrophy and loss of movement
  • Scoliosis
  • Seizures
  • Reduced pace of development in the cranium, limbs, and extremities

Because of its more regular course of development, Rett syndrome is more readily apparent in infant females. After a time of typical development throughout the first 18 months of life, they regress, during which they stop using their hands and speech and instead begin to exhibit these peculiar hand gestures. We’re hoping that by raising awareness of these symptoms, both families and doctors will seek out the specialized care they need.

Recognizing Rett syndrome in males is more challenging. It’s not as well-kept as female hair. Problems for the boys can begin shortly after birth, and they may have trouble breathing, have low muscle tone, and never achieve typical growth in the first year of life. This is true for boys with the most severe form, but it is also true for boys who have intellectual disabilities or developmental delays.

How can one determine if a child has Rett Syndrome?

The first step in diagnosing Rett syndrome is the identification of symptoms by a parent or pediatrician. If further testing is needed, a referral to a geneticist is the next step. A specialist may decide to conduct a battery of tests on the child, including an examination of the MECP2 gene.

In order to make a diagnosis, genetic testing must first be performed. The MECP2 gene must be checked for the Rett disease genetic misspelling. We use a panel test, which is similar to using a spellchecker on one’s genetic code, to look for typos. You’ll get advice on what we might find when we get the results of that test before we even order it.

Because mutations in MECP2 can result in illnesses other than Rett syndrome, the symptoms of a loss of hand usage, loss of speech, gait problems, and repetitive hand movements are required for a diagnosis.

As a result of greater familiarity with Rett syndrome symptoms in females, they are typically diagnosed earlier than their male counterparts.

The average age of diagnosis for girls is under 3 years old, whereas for boys, it’s over 3 years old. I’m getting started on a study to see if I can get an answer for young men. The most typical complaint I hear from families I’ve met at conferences is that their child wasn’t diagnosed until they were 5 or older, or even later. The fact that their child is male has led some doctors to rule out Rett syndrome as a diagnosis. Henry’s case has unfortunately proven that it can also affect males.

Is there a cure for Rett Syndrome?

Lifespan in people with Rett syndrome varies greatly depending on the severity of the disorder. Some people will make it to their middle years or beyond. When compared to men, women have a longer median life expectancy.

It’s possible that girls with Rett syndrome will live a full lifespan, but they’ll need constant care their whole lives. Boys rarely make it past the age of two. Henry stood out as an outlier.

Help for those with Rett Syndrome

Rett syndrome is currently untreatable. Therefore treatment focuses on easing the symptoms rather than eliminating them. Children may benefit from, among other things, speech and physical therapy, as well as nutritional supplements. Scientists are continually probing for novel therapies.

One is under development. However, there is currently no authorized or specialized therapy for Rett syndrome. The term for this is Trofinetide. A Phase 3 clinical trial has just concluded, and we anticipate receiving FDA approval for widespread usage sometime around 2023. All the symptoms of Rett syndrome were evaluated in the clinical trials, and the results show that the medicine is effective in reducing or eliminating them. 6 In other words, it’s not a home run, but it does get us somewhere.

Your child’s physician may recommend that you contact the International Rett Syndrome Foundation for more information and support after a diagnosis of Rett syndrome. A list of clinics that treat Rett syndrome is provided, together with contact information for those clinics and downloadable, in-depth care manuals written by experts in the field.

A pediatrician, neurologist, physiatrist or rehabilitation specialist, and gastroenterologist should be the bare minimum for the family’s care team. They also require the services of a dietician, physical therapist, and speech therapist to round out the team.

Dealing with your child’s Rett syndrome diagnosis can be emotionally draining and difficult. However, solutions are being developed.

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