June 27, 2022

“Everything was normal during my pregnancy and birth with my daughter, Isabella. It was not until she started playing with her cousin, who was about the same age that I noticed some differences. Isabella had less muscle tone and could barely sit up. She was almost too good of a baby – she rarely cried, was not very active, and would stare at her toys.”

As told by Luisa, mother to Isabella, who was diagnosed with Rett Syndrome

What is Rett Syndrome?

Rett Syndrome is a rare neurodevelopment characterized by involuntary hand movements and loss of achieved skills.

There are four known stages of Rett Syndrome.

Stage I, called early-onset, typically begins between 6 and 18 months. Often, this stage is overlooked because symptoms can be subtle.

Key Characteristics:

  • Less eye contact
  • Delayed gross motor skills, like crawling or walking
  • Hand-wringing
  • Slowed head growth

Stage II, or the rapid-destructive stage, usually begins between ages 1 and 4.

Key Characteristics:

  • Loses purposeful hand skills
  • Impaired communication and social skills
  • Repetitive hand movements like moving hands to the mouth, hand wringing, or clapping
  • Breathing irregularities
  • Noticeable slowed head growth

Stage III, or the plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and lasts for years.

Key Characteristics:

  • Apraxia (inability to perform movements on command, even though the command is understood and there is a willingness to perform the movement)
  • Gross (large) motor problems
  • Fine motor problems
  • Seizures
  • May see improvement in behavior, with less irritability and crying

Stage IV, or the late motor deterioration stage, can last for years or decades.

Key Characteristics:

  • Muscle problems, like weakness, rigidity, and abnormal posturing
  • Curvature of the spine (scoliosis)
  • Repetitive hand movements may decrease, and eye gaze usually improves

Learn more about the signs and symptoms of Rett Syndrome

What causes Rett Syndrome?

Each of our cells contains 46 strands of DNA. Each of our DNA has millions of nucleotide sequences, called genes. Our genes provide instructions on creating essential proteins responsible for building our bodies from the inside out.

Rett Syndrome occurs when one or both MECP2 genes is damaged. The MECP2 gene provides instructions on creating proteins that play a significant role in brain development (National Institute of Neurological Disorders and Stroke, 2022).

How is Rett Syndrome diagnosed?

A diagnosis of Rett syndrome is confirmed through genetic testing that identifies a mutation in the MECP2 gene. If a patient does not have access to genetic testing, or the genetic testing results are inconclusive, doctors can clinically diagnose Rett syndrome by examining the patient and assessing symptoms.

Is there a cure for Rett Syndrome?

Currently, there is no cure for Rett syndrome. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for Rett Syndrome, including possible gene therapies.

How is Rett Syndrome managed?

Let’s return to Isabella’s story.

“The neurologist at the children’s hospital told me he thought that Isabella had Rett Syndrome. The geneticist also thought it was Rett Syndrome but could not confirm the diagnosis until we received the results. The six months of silence between those appointments and receiving her results were horrible. When the nurse delivered the news – she said the bad news was that Isabella has Rett Syndrome, but the good news was that we now had a definitive diagnosis. One part of me understood the importance of having an answer, but another part was distraught and afraid. At this point, Isabella did not have major complications; however, I knew from my research that her symptoms would likely get worse as she got older. I felt like I lost a child that day. Even though I had been reading about Rett Syndrome, I still had hopes and dreams for my child.

The children’s hospital put us in touch with the mom of another child who had Rett Syndrome, and that mother connected us to a camp for children with Rett Syndrome. The families helped me navigate the resources available at the state level so that I could get the support my daughter needed. Now I help families new to this diagnosis just as those families helped me.

My daughter is 14 now, and I have learned that things get better over time; you learn how to adjust your goals. We had to learn to face Isabella’s diagnosis and what that meant for our family, which was painful, necessary, and helpful all at the same time.”

Like Luisa, receiving a full diagnosis is life-changing. Feelings of guilt, anger, and uncertainty are normal, and it may be helpful to talk to a professional to process it all. Parents should focus on one day at a time by working with their child’s care team to develop a realistic and achievable treatment plan. Medication, physical therapy, specialized nutrition, and individualized educational plans may help reduce symptoms and allow a child to experience life in a meaningful way.

Read more about Isabella’s story