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Living With Rett Syndrome
A Monster in the Night: My Experience With Rett Syndrome

Released: March 24, 2023

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Key Takeaways
  • Rett syndrome is a neurodevelopmental disorder that can rob people of their verbal and physical functioning.
  • Healthcare professionals caring for people with Rett syndrome need to treat it as more than a medical checklist: Referral to supportive therapies and social support groups is a crucial aspect of care.
  • Getting an accurate Rett syndrome diagnosis and eventual treatment accommodations is a long road that requires luck, persistence, and time.

Imagine you are a fourth-year medical student who has given birth to a perfect little girl. Your perfect little girl grows and develops. She does everything on time. You are now a Medicine-Pediatrics intern, seeing kids for well-child checks in your continuity clinic, so when your perfect baby girl loses the ability to say the 7 words she had gained by her first birthday, you know something is not right. “It’s because you are raising her bilingual,” your pediatrician tells you. “Stop trying to diagnose your child with terrible conditions like Rett syndrome,” your pediatrician scolds you. “All kids develop in their own way on their own timeline,” you hear from your daughter’s pediatrician. But your gut tells you otherwise. This is not normal development. You watch in agony as some milestones start to slip. Your new pediatrician launches into a metabolic workup while waiting for the neurology evaluation. And all along, you are becoming more and more confident that this is Rett syndrome, which is validated when a mutation on the MECP2 gene is reported 9 months after this journey began.

Rett syndrome is a neurodevelopmental disorder caused by a loss of function mutation on the MECP2 gene on the X chromosome. It has been identified mostly in females, but a growing number of males are being identified thanks to modern technology allowing genetic testing to be more accessible. Rett syndrome is the monster that comes in the night and robs your perfect little baby of so much. It robs your baby of verbal language, robs your baby of the ability to use their hands, robs your baby of other physical functioning—making day-to-day life a constant uphill battle. But this monster in the night does not rob your baby of their cognitive abilities, of their age-appropriate emotional development, of their desire to be here with you.

This monster came one night when Catalina was just 13 months old, and it kept coming back to rob her of developmental milestones until she was almost 4 years old. By then, she was completely nonverbal and could no longer use her hands to feed herself, hold her books, carry her favorite doll around, or even push her arm through a shirt sleeve. She was lucky that she learned to walk, but the monster stole her ability to run around kicking a soccer ball, stole her ability to get up and down stairs, stole her ability to get in and out of chairs by herself. We were lucky that this monster did not leave her with many of the medical problems that plague so many other children with Rett syndrome. She has not had seizures or scoliosis, which affect the majority of individuals with Rett syndrome. She also did not have failure to thrive and has managed to keep her oral feeding. She hasn’t lived in and out of the hospital with pneumonia like so many others with Rett syndrome.

Catalina is now a determined, persistent teenager. She is social and loves to be with her friends. She attends her local high school and is on grade level. She is set to graduate high school with a diploma, and she wants to attend community college. This is a huge accomplishment for a child who cannot speak and cannot use her hands to type, sign, or write. She has to communicate with her eyes using a speech-generating device that reads her eye gaze so she can make witty comments to her classmates or answer questions in class.

But all of this progress for Catalina has come with luck, persistence, and time. I am lucky that I was in the medical field and recognized her symptoms early on, that I thought to say the words “Rett syndrome” to get her diagnosis. I was lucky that she was not plagued by the many medical issues that affect kids with Rett. I was lucky that I had the ability to get her augmentative communication started early despite having therapists who didn’t believe a child with Rett syndrome could communicate and an insurance company that wouldn’t approve speech-generating devices for kids younger than 5 years of age. So it took persistence to get to a formal diagnosis, persistence to get the therapies approved, persistence to convince the augmentative and alternative communication speech therapist that “she was in there” and could communicate, and persistence to teach the education system how to teach and assess a complex learner like Catalina. And it has taken time. Nothing happened overnight (except the initial robbing of her verbal language), and this will hold true for future treatments, too.

The road of a person with Rett syndrome is long, winding, and lonely. It could have been a much more lonely road for Catalina if she didn’t have the incredible friends who have come in and out of her life through the years. But it is a lonely road for the family of a person with Rett syndrome, too. Her brother and sister learned early on that sometimes we just couldn’t stay at an event or we couldn’t do a specific activity as a family because of the Rett monster. As her parents, it can be exceptionally isolating to have a complex child with multiple disabilities. Invitations start slowing down, friends start drifting away, and finding sufficient care for your perfect—but complex—child gets harder and harder, leaving you unable to live your life “normally.” 

That said, as a healthcare professional, it is not enough to run through a checklist of medical issues for a family affected by Rett syndrome. Medical issues can be the most pressing, but the supportive therapies (ie, physical therapy, occupational therapy, speech‒language pathology) should not take a backseat—these therapies can be hard to find, yet they are so vital for a person to maintain skills or for a family to figure out how to adapt life around the needs of their child. Even more challenging—and crucial—is finding adequate social support. Although medical offices may not be able to meet all the needs of a family affected by Rett, knowing how to help the family find resources can be a lifesaver for them. The International Rett Syndrome Foundation is an amazing patient advocacy group that has a mission to support families today while researching the cures for tomorrow. The foundation can be a lifeline for families so they know they are not alone and don’t have to navigate this challenging world of Rett syndrome on their own. They can learn from others and be supported by a network of people who speak their language.

I dream of the day when there are treatments available for Rett syndrome—when small improvements make life easier, when the monster doesn’t get to rob so much, when I hear my daughter use her voice to say, “Mom, I love you.” I know the day for this reality is coming. I just hope we are lucky one more time and these treatments reach clinical practice sooner rather than later, so Catalina is still alive to benefit.

Your Thoughts?
Rett syndrome is more than just a medical challenge, and families and patients require additional resources to be best supported while navigating life with Rett. Do you feel equipped to refer families of people with neurodevelopmental disorders to supportive therapies and social support groups? Answer the polling question and let us know your thoughts in the comments.

To learn more about Rett syndrome presentation and treatment options, be sure to tune in to the podcast series titled, “Rett Syndrome: Today and Tomorrow.”

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How comfortable do you feel referring families of people with neurodevelopmental disorders to supportive therapies and social support groups?

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