When a newborn enters the world, we become witness to the complexity and wonder surrounding things we, as adults, take for granted. We are reminded we once didn’t know how to speak, what colors we were looking at, how to tell a joke, even tears were once new. But with each passing day, the child latches on to more information and develops new skills. Before we know it, they are unique individuals who possess the ability to communicate needs, likes, dislikes, and love. But what happens when this seemingly record-breaking speed of growth not only comes to a halt but is thrown into reverse?

James and Audra Small’s daughter, Sophia, flourished in her first year, quickly moving from sign language to speaking. But suddenly, at around 15-18 months, Sophia wasn’t speaking as much.  Pretty soon not only couldn’t she speak, but she was only able to sign the word “please.” She became difficult and aloof, a far cry from her exuberant 1-year-old self. Audra realized Sophia was going through something far more complex than just the “terrible twos.” “As she got to be about two years old, I remember we took her home from her 2-year appointment and…it just seemed like she was fading away.”

Diagnosing the cause of Sophia’s regression would prove to be as mysterious as the symptoms themselves. Initially, doctors believed the then-2-year-old Sophia was living with Autism. But when she didn’t progress in her therapy as much as the others in her group, the Smalls realized their journey was far from over. After further testing, specialists at Stanford Lucile Packard Children’s Hospital gave Sophia a new diagnosis: Rett Syndrome. Finally, it felt like all the missing pieces of the puzzle came together and an explanation was in sight. James Small compared that moment to the opening of a new set of doors, “It started to feel like the key was fitting in the lock…It just started to make some sense.” In fact, Sophie’s story, which once felt singular and random, was surprisingly similar to the other 350,000 women and girls living with Rett Syndrome today. And while the Smalls knew they still had a long road ahead of them, at least they no longer felt they were walking it alone.

According to the National Organization for Rare Disorders (NORD), Austrian physician Dr. Andreas Rett was the first to identify Rett Syndrome in medical literature back in the 1960s. The disorder is associated with mutations of the MECP2 gene on the X chromosome and primarily affects females. Infants with Rett Syndrome generally develop normally for about 6 to 18 months after birth. Around 1-4 years of age, developmental regression begins and acquired skills such as purposeful hand movements and the ability to communicate are lost. Affected children often develop autistic-like behaviors, experiencing difficulties with breathing, eating, and social interactions. It is also during this time Rett’s stereotypic movements like hand wringing or squeezing, clapping, rubbing, or hand to mouth movements are exhibited.

The symptoms, progression, and severity of Rett Syndrome can vary dramatically from person to person, however, all cases are the same when it comes to the cause. In 99% of those with the disorder, the MECP2 gene mutation was spontaneous rather than inherited. That means, unlike most genetic disorders, these mutations are not transmitted or possessed by the child’s parents. While EVERY 90 MINUTES a girl is born with Rett Syndrome, their families have probably never even heard of the disorder until symptoms appear 1-4 years later. And even then, Rett Syndrome is often misdiagnosed as Autism, Cerebral Palsy or a non-specific developmental delay – causing additional confusion, pain, and frustration for all parties involved. Despite the difficulty of the symptoms, most children can survive to adulthood with the help of round-the-clock care and daily therapies.

Though an accurate occurrence of Rett Syndrome is hard to determine due to frequent misdiagnosis, it is estimated 1 in 10,000 girls will present symptoms of the disorder by age 12. While we have more to learn about Rett Syndrome, what we do know is that it has presented itself in every racial and ethnic group around the world. And because the genetic mutation that causes the disorder mainly occurs spontaneously, there is currently no known way to prevent Rett Syndrome. This life-altering disorder can happen to anyone and without any warning.

James and Audra Small founded the Arizona-based 501c3 nonprofit organization Rett Eliminated Together Today (RETT) in 2009 with the singular goal of funding the cutting-edge research necessary to make a cure accessible to every individual and girl living with the disorder.

There is hope! In 2019 the first clinical trials are set to begin that could result in a cure for Rett Syndrome, making it the first reversible neurological disorder in history. With the help of your generosity, RETT will not only remain at the forefront of funding pioneering medical research but continue to provide a supportive community for those affected by this devastating syndrome. Through continued education, dedication, and empathy, we believe an end to Rett Syndrome is in sight.

Join our vision of a world without Rett Syndrome.