What is Rett Syndrome?

What is Rett Syndrome?

According to Kathy Hunter, founder and president of The International Rett Syndrome Foundation (IRSF), Rett syndrome (RS) is a neurological disorder seen almost exclusively in females and found in a variety of racial and ethnic groups worldwide.

The child with RS usually shows an early period of apparently normal development until 6 to 18 months of life. From that point on, the child gradually loses communication skills and purposeful use of the hands. Stereotyped hand movements, gait disturbances, and slowing of the rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns that occur when awake.

This syndrome is often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. In the case of Connie Coughlin of Bartlett, Tennessee, her daughter, Dani, was diagnosed with cerebral palsy. The family believed that for 11 years until she was officially diagnosed with RS. "By the time Dani was correctly diagnosed, she had lost all of her abilities, and the first thing I read about Rett was that many girls die from it," Coughlin says. "Dani was always very fragile, low weight, petite, and her scoliosis was progressing too fast for surgery. I knew she didn't have long to live."

Life Expectancy

Life expectancy averages between 40 to 50 years, but there is no set limit on how many years they will live. Allotting time for a child with RS and caring for other children in the home can be challenging. Because RS is not well known in the medical community, parents must also become experts, often providing information for the doctors and specialists who care for their child.

Living with RS

Parents who have children with RS learn to face unusual struggles. "Families are challenged by the amount of physical care required by the child with RS who needs help for every aspect of daily living," Hunter says. "Most individuals with RS can't talk, but some can use communication devices." Hunter explains that only half of the people with RS will be able to walk in their lifetime.

"Living with Rett syndrome is kind of like being on a roller coaster that never stops," Coughlin says. "It has its ups and downs, the smooth but bumpy course, the twists and turns that somehow seem to come when you least expect them and knock you back into the reality that your child is different from others. But that doesn't mean she can't learn and can't lead a full and impact-filled life."

Although Dani Coughlin died at the young age of 21, her mother feels blessed for the years she had with her. "Never forget for a single moment how precious your child's life is," she says. "It can be gone in a millisecond."