Editor’s Note: This occasional blog series features stories of CHOP research heroes who have participated in clinical research studies. Without the generosity and dedication of families, patients, and members of the public who take the time to be a part of research, many trials would not succeed.
Six-year-old Brynn Clare Connor has never spoken a word in her life, but she’s touched more people in her lifetime than some ever will, said her parents, Kristen and Shawn.
At 2 ½ years old, pediatricians at Children’s Hospital of Philadelphia diagnosed Brynn with Rett syndrome, a rare neurodevelopmental disorder that disrupts a child’s communication, coordination, muscle control, and growth over time. Caused by a mutation in the MECP2 gene, Rett syndrome can occur in both genders but almost exclusively affects girls.
Brynn, a natural superstar, is moving past this prognosis to help other girls battle the disorder. As a spokesperson for Rett awareness and a CHOP Research Hero, she participates in the Natural History of Rett Syndrome and Related Disorders study and has also participated in the Neuren Rett clinical trial. As Brynn continues on her journey to support breakthroughs and end Rett, her entire family has jumped head first into supporting research of the disorder in every way they can.
“Rett syndrome is potentially treatable, possibly even curable, so we really want to have a hand in changing our daughter’s life,” Kristen Connor said. “We realized early on that we’re not going to be able to do work in the lab, so if we wanted to help Brynn, we could obviously love and raise her to the best of our abilities, but also become advocates of Rett research and research funding.”
The Connors didn’t hesitate to enroll Brynn in the Natural History Study, a nationwide effort that involves 15 institutions across the U.S. alongside CHOP. The large-scale investigation seeks to examine the phenotypic differences and similarities of children with the MECP2 mutation or who meet the diagnostic criteria for Rett.
To fulfill their part in the study, Kristen and Shawn collect, track, and report each and every one of Brynn’s symptoms as she grows. From her physical movements to quality of life assessments, Brynn’s data and that of over 1,000 other children will help researchers understand the path that a child generally follows when they have milder or more severe forms of the disease. This is important since babies born with Rett typically don’t show obvious symptoms until they reach 6 to 18 months old. Around that age, the skills they’ve developed such as eye contact and social interactions begin to regress. For example, Brynn had begun to crawl at 15 months old but can no longer do so – though she can walk with assistance.
“The findings of the Natural History study are important because Rett syndrome brings on a lot of changes in girls, and every girl is different,” Kristen said. “Much of what’s involved in the study is keeping up to date and documenting it all. That’s really important to future families, but also for us, since we get to look back on our own child.”
To accelerate Rett research through this study and other projects, CHOP was named a Rett Syndrome Clinical Research Center of Excellence earlier this year. Eric Marsh, MD, director of the Neurogenetics program at CHOP, commented in Bench to Bedside that the natural history data will help provide a “baseline” from which to compare patients to, particularly as research gets closer to discovering possible treatments.
The Connors describe Dr. Marsh as “super supportive,” and he isn’t the only CHOP care provider with whom they’ve made a lifelong connection: Also on “Team Brynn” is Margaret O’Brien, clinical research coordinator at CHOP.
“Brynn was a delight to have in clinic and brightens up any room she goes into,” O’Brien said. “Her parents are so positive and encouraging towards Brynn and the entire Rett community. Families like the Connor’s are why I love what I do.”
Kristen and Shawn actively encourage other families who want to help advance Rett research to participate in studies, should they have the opportunity.
“A lot of parents think research trials are scary, but talk it over with your clinicians before automatically saying no,” Shawn Connor said.
Kristen Connor adds that parents who have just learned their child has Rett may also find comfort in joining a community of families going through a similar struggle.
“The future won’t be what you always dreamed of, or what you thought it would be, but once you take the time to grieve, there is a lot of hope in the disorder,” she said. “If we all stick together and keep the research going, we can beat this disease. Our ultimate goal is to cure Rett, and as more families get involved in the research, funding, and awareness, we can obtain that goal even faster.”
The Connors began their own fundraiser, Believe in Brynn, which has raised over $200,000 for Rett syndrome research.
As for Brynn, she is – quite literally – reaching for the stars. Thanks to the outreach efforts of older sister, Taryn, and the support of her social media followers, Brynn and Taryn spoke with Gwen Stefani, pop singer and host of NBC’s “The Voice” in early August. Why Gwen Stefani?
“She’s really into girl power, and Rett syndrome is mostly an all-girl disease,” Taryn told Forbes.com in an interview. “I thought she’d be a really good addition to help Brynn.”
Read about CHOP’s status as a Rett Syndrome Clinical Research Center of Excellence on Bench to Bedside.
If you’re interested in becoming a research hero, use the CHOP Clinical Trial Finder to search for current studies across a variety of fields.