We’ve Been There Too

If your child is suspected of having Rett or was just diagnosed with Rett we understand all too well that reading the information on this page may be traumatizing.  If you have questions, or simply want to talk (or cry, or scream) please reach out to us.


What is Rett?

Rett Syndrome is a severe neurological disorder that is diagnosed almost exclusively in girls and begins to manifest itself during the toddler years. After a seemingly normal first year the child begins to lose previously acquired skills. This regression can happen quickly over a number of days or very gradually over months. Often the first noticeable symptoms include low muscle tone (hypotonia), eye crossing, decreased interactions with people and surroundings and loss of hand function. The hallmark symptom of Rett is repetitive hand movements that can be constant especially in the younger girls.

As time passes additional symptoms may include loss of speech, trouble with balance and motor coordination, irritability and crying, disrupted sleep patterns. Many children develop seizures, anxiety, breathing problems, gastrointestinal and orthopedic issues as well as oral motor difficulties.

It is important to note that Rett is a spectrum disorder with children exhibiting a broad range of severity. Some children have some language, can run and feed themselves while others are unable to independently sit up. The symptoms in Rett are, unfortunately, many and often times debilitating. Our girls however are so much more than their symptoms. They are beautiful, they are powerful, they are resilient. They move us to move mountains on their behalf.


What causes Rett?

Rett is caused by errors in a gene called MECP2 which is located on the X chromosome. All of us have an MECP2 gene in every one of our cells that makes a protein also called MeCP2. Children with Rett have a mutation in the gene that causes the protein to not work properly. The MeCP2 protein is present throughout the body but it is especially important in the brain where it helps keep brain cells functioning properly. To better understand your child’s mutation and what it means for her future please visit Genetics 101.


Why girls?

The vast majority of MECP2 mutations come from a mutated sperm. Sperm contain 22 chromosomes plus either an X chromosome or a Y chromosome. If the egg is fertilized by a sperm that contains the X chromosome the future baby will be a girl. On the other hand if the sperm that does the fertilizing contains the Y chromosome the baby will be a boy. Since MECP2 is on the X chromosome the mutations are almost always in girls.

Mutations, more rarely, can come from a mutated egg. In that case, since mothers give an X chromosome to both their daughters and their sons, both girls and boys can have Rett. To learn more about boys and Rett please visit Genetics 101.



It is estimated that one in ten thousand girls will be born with Rett Syndrome. This means about 15,000 girls and women in the US and 350,000 worldwide have the disorder.

Rett Syndrome is classified as a “rare disease” (by definition, less than 200,000 affected individuals in the US) by the Office of Rare Diseases of the National Institutes of Health. This designation qualifies the condition for orphan drug status from the FDA which comes with certain perks for pharmaceutical companies like tax deductions and marketing exclusivity on a drug for an extended time period.



Rett Syndrome is a clinical diagnosis given by a physician based on the child’s history and symptoms. An MECP2 mutation is not required to have a clinical diagnosis of Rett Syndrome. In other words, it is possible to have a diagnosis of Rett without genetic confirmation or the other way around, an MECP2 mutation without a clinical diagnosis of Rett Syndrome.

If your child’s symptoms are consistent with Rett Syndrome but your child has tested negative for an MECP2 mutation please ensure that testing included sequencing all four exons of MECP2 and that deletion testing was done as well (sometimes called MLPA). If you have questions about your child’s testing result please contact us.


Symptoms and Health Problems

Unfortunately an individual with Rett will have a variety of problems that may include movement issues (apraxia, rigidity, dyskinesia, dystonia, tremors), seizures, gastrointestinal problems (reflux, constipation), orthopedic issues (contractures, scoliosis, hip problems), autonomic issues (breathing irregularities, cardiac problems, swallowing) as well as sleep problems and anxiety.

Having compassionate doctors in place that will listen to you is key. Besides a pediatrician you may need a neurologist, a gastroenterologist and an orthopedist. It’s important to note that not every child will have every symptom so the team of doctors required may vary.



There are no treatments yet specific to Rett Syndrome. Medications used to treat seizures, anxiety, reflux, constipation, sleep problems, movement issues and more are often used in Rett as well. Surgeries to insert feeding tubes or correct scoliosis or other orthopedic problems are not unusual.