What is Rett syndrome?

Rett syndrome is a disorder that mostly impacts girls.

It affects many parts of the body, but because it influences development of the brain it is primarily seen as a brain disorder.

It is currently estimated that around 1 in 10 000 girls have Rett syndrome.

Rett syndrome is genetic, but it is not hereditary. It is not passed down from parents (although this can happen, it is very rare), it is a random mutation, which can affect any child.

Generally a child only shows signs of Rett syndrome between 6 to 18 months. They will go through a period of regression, where they lose the ability to perform certain learned actions, some of which they may have already been doing.

Sometimes the child will not appear to go through regression, but is perceived to have a slow development arc.

Rett syndrome symptoms include

  • Loss of speech
  • Loss of motor control
  • Scoliosis and fragile bones
  • Seizures – including Rett episodes
  • Compulsive hand movement
  • Irregular breathing
  • Apraxia or Dyspraxia
  • Extreme anxiety
  • Gastrointestinal issues
  • Impaired circulatory and cardiac function
  • Parkinsonian tremors

Why only girls?

girlsRett syndrome does affect boys, but because it is a mutation on the x chromosome (girls have 2 x’s) boys don’t often survive.

There are cases where another disorder can enable boys to survive Rett syndrome such as Klinefelters Syndrome and Somatic Mosaicism, but it is rare.

There are boys who do have Rett syndrome however, and even though it’s rare, it should not be forgotten.

Mutations, Insertions & Deletions

MECP2 (the gene responsible for Rett syndrome) mutations come in a variety of forms:

A missense mutation substitutes one amino acid for another.

A nonsense mutation stops a cell from building protein.

An insertion adds an extra piece of DNA

A deletion removes a piece of DNA

A frameshift, shifts the location of a group.

Rett syndrome and it’s effects can seem very random, people with the same mutation can present completely differently, but there is no “easy” version. For people with Rett syndrome, it will affect them for their entire life.

New diagnosis

If you have recently received a diagnosis of Rett syndrome, it’s important to know right away that not everything you read on the internet is relevant today.

Rett syndrome is a better diagnosis today than it was 10 years ago. There are currently 8 drugs in trial to help alleviate the symptoms of Rett syndrome, drugs that will have a meaningful impact on the life of your child.

In 1999 Huda Zoghbi and her team identified the gene responsible for Rett syndrome (MECP2), since then there has been rapid progress in the field. In 2007 Sir Adrian Bird reversed Rett syndrome in his lab.

Our research, science and medical community work tirelessly to bring results and options back to everyone who suffers as a result of Rett syndrome. It’s not just medical results too, computers are unlocking the ability to communicate through the use of eye gaze technology.

Every child who has Rett syndrome is different, there are so many factors that affect the signs or symptoms of Rett syndrome. The future for your child is unique, there is no defined Rett “path”. Each child progresses differently, it’s so important to become champions of physical and occupational therapy.

“We need to keep our girls in the best possible condition for when the cure comes.” – Dr Sasha Djukic

Even children who share the same mutation will develop very differently, the severity of Rett syndrome has little to do with their mutation, and much more to do with methylation but also with therapy.

We are discovering so much more about Rett syndrome all the time that is changing old beliefs/assumptions. Believe in your child, believe in their ability, they are smart.

“Assume their competence and reach for the stars!” – Susan Norwell

Why I say girls instead of females and boys instead of males.

I know that Rett syndrome mostly affects girls of all ages, I know that females is probably a better a term, but I don’t like to use females, or males. I don’t like to use it because Rett syndrome affects people, not genders.

Saying “girls and boys” is just much more personal to me.

While this is all about Rett syndrome is, fundamentally it’s about what Rett syndrome does.

Rett syndrome steals the opportunity for a normal life from every girl and boy it affects.

I chose to fight Rett syndrome and I choose to be relentless.


Future blogs

I wanted to mention two future blogs I plan on writing, both of these are so incredibly import and are also too big to be hidden away in this blog.

  • Methylation
  • Rett syndrome and Autism

A very big thank you to Dr Steve Kaminsky, who is always so incredibly helpful. He makes it so much easier for me to do this.

I’d also like to thank Anna, I really don’t know what we would do at Army of Us without her and Faith who’s so patient with me and my crazy grammar skills 🙂

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