Story, Patient, Research and Innovation

Research Provides Insight on Madelyn’s Rare Neurological Condition

July 13, 2022

Madelyn was crossing developmental stages on time – but then the clock seemed to turn backwards. That's when her family sought help at the Children's Hospital Colorado Rett Clinic.


First time sitting up. First steps. First words. These are milestones to which many parents can look forward.

Baby Madelyn crossed all these developmental stages generally on time – but then the clock seemed to turn backwards. She stopped speaking. She lost the ability to hold a bottle or feed herself. And she didn’t engage or play with other toddlers.

Amy, a first-time mom, was worried. “I just kept going back to the pediatrician, saying, ’Something’s wrong…something’s wrong.’”

After several misdiagnoses and a lot of agonizing genetic testing, Amy and her husband, Matt, learned that their daughter had Rett Syndrome, a rare condition caused by mutations on the X chromosome that can lead to a wide range of symptoms, including loss of mobility, seizures and the inability to talk.

“Rett syndrome had recently been identified with genetic testing,” said Amy. “Our first doctors didn’t know much about it.” 

Luckily, Madelyn’s family found pediatric neurologist Timothy Benke, MD, PhD, who leads the Rocky Mountain Rett Clinic at Children’s Hospital Colorado. Madelyn began receiving expert care from a team of specialists and was enrolled in several research studies that were designed to learn more about the condition and discover potential treatments.

One study was a clinical trial for an experimental drug. “It’s a double-blind study, [which means they didn’t know if Madelyn was receiving the drug or not], but we’re pretty sure she had the real drug, because we saw immediate improvements,” said Amy. “She said ‘mom,’ and she hadn’t spoken since the age of two. It was amazing.”

The drug trial is now in the third phase of research, with submission to the FDA for approval for broader use the final step.

Another study Madelyn participates in is a national “natural history” study that follows Rett patients over the course of their lives to chart the progression of the disease for those with different genetic mutations and deletions.

“As Maddy and her Rett Syndrome ‘sisters’ age, this will help those families getting new diagnoses,” said Amy. “We can tell them, ‘This is what you can expect.’” She added, “We feel very supported at Children’s Colorado. The providers always listen to us and work as a team. We know we are not alone on this journey.”

Today, Madelyn is in high school and loves fashion, sporting events, anything related to Harry Potter and playing with her dogs. She also enjoys hanging out with her friends, telling jokes and making people laugh. Although Madelyn cannot communicate verbally, she has learned to use a speech-generating device that relies on her eye movements. And when she grows up, she would like to be a food critic, who specializes in sweets.