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Living with Rett syndrome

Information, shared experiences and research connections for people living with Rett syndrome and those who support them.

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Understanding Rett syndrome

Rett syndrome is a brain disorder that happens almost only in girls, where a child seems to develop as expected at first and then loses skills such as speech, hand use and movement.

It is caused by a change in a gene, most often the MECP2 gene on the X chromosome, and signs usually appear after about 6 to 18 months of typical development.

Signs & symptoms

Signs can differ from child to child, but often include:

  • Loss of purposeful hand use, with repeated hand wringing, washing or clapping
  • Loss of skills already learned, including speech
  • Problems with walking and balance
  • Seizures
  • Irregular breathing patterns
  • Sleep problems and curving of the spine (scoliosis)

Tell your care team about new or changing symptoms.

Diagnosis

  1. Watching development

    A doctor looks at your child's development over time, including any loss of skills followed by a period of leveling off.

  2. Clinical criteria

    Doctors check for key signs such as loss of hand skills and spoken language, repeated hand movements and changes in walking.

  3. Genetic testing

    A blood test can look for known gene changes, like in MECP2; the result is combined with your child's symptoms, since a gene change alone does not confirm the diagnosis.

Care & treatment

Therapies
Physical, occupational and speech-language therapy can help keep movement, hand use and communication, including nonverbal ways to communicate.
Treatment
Medicines may be used to manage problems like seizures and breathing issues, and feeding and nutrition support can help with growth.
Your plan
Care is often shared by a team that can include neurologists and geneticists, and starting treatment early is thought to help.

Discuss benefits, risks and follow-up with your care team.

Everyday life

Tracking day-to-day patterns can help your care team:

  • Keep a log of seizures, breathing episodes and sleep to bring to appointments.
  • Note which communication methods, like eye gaze or devices, work best and share them with therapists and school staff.
  • Keep copies of genetic test results and therapy plans together in one folder.
Bring these questions to your next doctor visit
Which therapies would help my child most right now, and how often should we do them?
What signs of seizures or breathing problems should we watch for at home?
How should we check for scoliosis, feeding or growth concerns as my child gets older?
Sources: NIH GARD — Rett syndrome · NICHD — How do health care providers diagnose Rett syndrome? · NICHD — What are the treatments for Rett syndrome?Page drafted from NIH sources · Know Rare editorial review pending. General information to support conversations with your care team.

You are more than your diagnosis

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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