We Fight Rett Syndrome

We are a community focused, not-for-profit organisation created to help people and families affected by Rett syndrome and related conditions. We create awareness, help with fundraising, and provide accurate and up-to-date information about Rett syndrome.

What is Rett syndrome?

Rett syndrome is a rare genetic disorder that mostly impacts girls, affecting many parts of the body. Because it influences development of the brain it is primarily seen as a neurological 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 usually passed down from parents, although this can occasionally happen.

What are the symptoms of Rett syndrome?

  • Loss of speech
  • Loss of motor control eg ability to walk or use hands purposefully
  • Scoliosis (spinal curvature) and fragile bones
  • Seizures, including absences
  • Compulsive hand clasping and wringing
  • Irregular breathing and breath holding
  • Apraxia or Dyspraxia
  • Extreme anxiety
  • Gastrointestinal issues
  • Impaired circulatory and cardiac function eg cold hands and feet
  • Teeth grinding when awake

Is there a cure for Rett syndrome?

A cure for Rett syndrome is not currently available and is not coming anytime soon. If a cure was discovered today, it would still take multiple years before it could be made available as a treatment. Although Rett syndrome has been reversed in mice by selectively switching the Rett syndrome causing gene on and off, the technique used cannot be applied as a therapy. There are however several promising ongoing clinical trials, including gene therapy, for treatments to address the symptoms and the underlying cause of Rett syndrome.

How is Rett syndrome diagnosed?

Children are often initially misdiagnosed with global developmental delay, cerebral palsy or autism. If a patient has displayed loss of skills, has an irregular head circumference, or shows signs of handclapping or hand wringing then a paediatrician or doctor should order a blood test to check for a mutation in the Rett syndrome gene. A gene mutation can be used to confirm the diagnosis but it is also possible to be diagnosed based on a list of criteria for the condition.

Newly diagnosed?

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. The research, science and medical community work tirelessly to bring results and options back to everyone who suffers as a result of Rett syndrome. Advances in technology have recently unlocked 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, so it’s important to become champions of physical and occupational therapy. Even children who share the same precise mutation will develop very differently. Old beliefs and assumptions about Rett syndrome are constantly being challenged by new research studies and discoveries.

Believe in your child, believe in their ability, they are smart. 

To speak to someone about your diagnosis, please see the Family Support section of our resources page.