This year approximately one out of 10,000 baby girls will be born with Rett syndrome. Her birth will be like any other, and she will appear healthy in all ways. She will coo, smile and make her parents unbelievably happy. But within six to 18 months of her birth, symptoms of Rett syndrome will present themselves, and she will endure countless hardships, and her parents will face boundless challenges.

What is Rett Syndrome?
According to Kathy Hunter, founder and president of The International Rett Syndrome Association, 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, Tenn., 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."

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.

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 Rett syndrome is kind of like being on a roller coaster that never stops," says Coughlin. "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."

Finding Support
For families who have a child with RS, the Rett Syndrome Association can be a huge source of support. "We provide help and hope through information, research, family support, advocacy and awareness," Hunter says. "We have annual conferences, local seminars and support groups, a Web site with more than 800 pages of valuable information, an 800 toll-free help line (1-800-818-RETT), an online list server with 600 families, numerous publications and a quarterly newsletter."

Rett Research
Monica Coenraads of Trumbull, Conn., first learned of RS when she was researching the syndrome on the Internet. At that time, her child was just 17 months old. Although her daughter did not yet display all the symptoms of RS, her mother's intuition told her she had found the appropriate diagnosis. "I had an urgent need to understand the state of RS research," she says. She spent the next year with a phone glued to her ear speaking to researchers within the RS field.

Coenraads has also networked extensively with parents who started research foundations, and she benefited greatly from their experiences. At the end of that year, she concluded her daughter and countless other affected girls would benefit from an organization that could devote itself exclusively to research. She connected with five other parents who shared her feelings of urgency and who were equally committed to seeing research accelerated. Together they established Rett Syndrome Research Foundation (RSRF).

In October 1999, it was discovered that a mutation in the MECP2 gene on the X chromosome was responsible for Rett syndrome. It has been determined that it is the regulatory gene that, when functioning properly, shuts down other genes. In RS the gene is mutated, and these downstream genes are thought to stay turned on, leading to the array of symptoms. The process by which genes regulate other genes is currently a very popular topic in science. Scientists now have a disease model to study these important mechanisms.

Animal models are crucial tools to further the understanding of the neurobiology of the disorder and to test potential interventions such as drugs or gene therapy. RSRF funded, in part, a mouse model developed by Dr. Rudolph Jaenisch at Whitehead Institute in Cambridge, Mass. These animal models are helping to unravel the mysteries of the disorder.

The next crucial steps include identifying any downstream genes and discovering potential drug targets for MECP2. Another key question is whether fixing the MECP2 mutations in a child or adult alleviates any of the symptoms.

Advice for Parents
Coenraads knows firsthand the trials of having a child with RS. "Parents who have RS children share a common bond," she says. "We have witnessed our children regress and lose many, if not all, their skills. We peer into their eyes and attempt to understand what our child is trying to communicate with us. We watch other children ride bikes, sing songs and run to hug and kiss their moms and dads. We even have bittersweet feelings when our other children hit milestones that our Rett children will never achieve."

Occasionally Coenraads feels helpless and isolated, but she holds onto the thought that biomedical research will find treatments and a cure. Her message to parents is to get involved. Make a difference in their child's life by actively playing a role in the search for a cure.

Coughlin wants to remind all parents to look into their children and find what truly matters. "Step back, take a look at that precious face your daughter has and think of all the things she is being spared in this crazy world in which we live,” she says. “You will always know where she is, she will never run with the 'wrong' crowd, she won't get hooked on drugs. She will always love you unconditionally."

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