Medical Management of Rett Syndrome: Clare’s Story

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Clare’s birth and first few months of life took a typical course. It wasn’t until she was late meeting developmental milestones like crawling and walking that her mother, Allison, and her pediatrician realized something was wrong. Then, around age 3, Clare started losing skills she had gained, like the ability to speak and motor function in her hands. She was evaluated by specialists and underwent genetic testing, which came back positive for Rett syndrome. 

Clare smiling Rett syndrome is a progressive neurodevelopmental disorder that affects a child’s brain development and cognitive ability. Over time, it can cause severe problems with language and communication, lack of coordination and muscle control, involuntary hand movements, and slowed growth.

Allison, a biology teacher, took to the internet to educate herself about the condition, and her research led her to Children’s Hospital of Philadelphia (CHOP) — located about an hour south of their home in central New Jersey. CHOP is one of 15 clinics that have been designated as Centers of Excellence by the International Rett Syndrome Foundation. CHOP’s Rett Syndrome Clinic combines both comprehensive clinical care as well as access to various research opportunities that hope to pave the way to an effective treatment for individuals living with Rett.  

Evaluation and a tailored plan to manage symptoms

Allison knew CHOP was where Clare needed to be. She made an appointment for her daughter to be evaluated by the team at CHOP’s Rett Syndrome Clinic. Clare’s evaluation at CHOP was led by attending pediatric neurologist, Eric Marsh, MD, PhD, who specializes in diagnosing and treating children with Rett syndrome and other neurodevelopmental disorders. The evaluation also included consults with a multidisciplinary team of specialists that included genetic counseling, gastroenterologists, nurse practitioners, speech therapists, occupational therapists and physical therapists.

Together, the team worked to understand how Rett syndrome was affecting Clare and to develop a comprehensive treatment plan specifically for her. There is no cure for Rett syndrome. At CHOP, the care team’s goal is to manage symptoms and provide early developmental intervention that helps each child reach their full potential.

Clare receives physical and occupational therapy to improve her movement. She has also participated in water therapy and is looking to start hippotherapy, a form of physical, occupational and speech therapy that utilizes the natural gait and movement of a horse to provide motor and sensory input.

Although Clare is non-verbal, CHOP speech therapists work with her to maximize her ability to communicate. She recently underwent an augmentative communication evaluation at CHOP and is beginning to work with an eye-gaze communication device. 

“It’s been a game changer,” says her mother.

Advancing Rett syndrome research

Researchers at CHOP are working to better understand the gene mutations that cause Rett syndrome. Dr. Marsh’s research is particularly focused on using new technologies to track and monitor neurological function in an effort to improve clinical understanding of Rett syndrome and pave the way for the development of novel therapies to address specific symptoms and improve the quality of life of children like Clare.

CHOP was a participating center in the Rett Syndrome, MECP2 Duplication, and Rett-related Disorders Natural History Study, which was funded by the National Institutes of Health (NIH) and completed enrollment in 2021. The goal of this study was to gather as much data as possible about children and adults with Rett syndrome in order to stimulate more clinical research and better prepare for future clinical trials. Clare was enrolled in this study, as well as a Phase III clinical trial for a potential treatment of some of the neurobehavioral symptoms of Rett syndrome. 

Current struggles and future outlook

Clare in her cap and gown Clare has faced a range of health challenges related to Rett syndrome. She’s struggled to grow and gain weight. At 5 years old, she weighs only 30 lbs.

She’s also struggled with gastrointestinal issues, primarily constipation, as well as sleep issues, which are common in girls with Rett syndrome. Fortunately, she hasn’t had a regression of her gross motor skills, so her care team expects her to remain ambulatory. But she is at risk for developing seizures. 

Her mother participates in a Facebook group dedicated to families whose children have Rett syndrome. Between the support she’s received from that group and the knowledge she’s gained from Dr. Marsh and the team at CHOP, Allison, her husband Brendan, and the rest of their family have learned to manage life with Rett syndrome.

"Everyone at CHOP is so amazing,” says Allison. “I knew it was the place to go. When we looked into the Rett Clinic, we felt like it had the most to offer us.” 

Despite the many challenges she lives with, Clare is a sweet little girl with her own wonderfully unique personality.

“She loves hugs and kisses,” says her mom. “She loves being outside, running around, going through the sprinkler, going for bike rides, and she especially loves the beach.”