For many, a long wait in the doctor’s office is a source of aggravation. But for McCall Wright, it led to a life-changing diagnosis.
Prior to a well-child visit, 4-month-old McCall and her mother, Nicole, spent more than an hour in their pediatrician’s waiting room in Lexington, S.C., which was atypical for the organized office. When they were finally able to speak with the doctor, McCall started experiencing something unusual: her arm rhythmically bent and jumped on its own.
Her pediatrician quickly recognized this as a seizure and immediately called an ambulance to take McCall to the local children’s hospital.
“I never would have thought it was a seizure, and if we hadn’t waited so long in the doctor’s office I might never have seen or recognized it,” said Wright. “Right then the walls started closing in — my perfectly healthy, happy girl was on the way to the emergency room.”
Three-year-old McCall Wright was diagnosed with Dravet syndrome within her first year of life. Her parents hold on to the hope that one day this syndrome can be treated on a genetic level.
What followed were months of neurologist visits trying to capture the seizures that continuously eluded EEG testing. Unsatisfied with the diagnosis of general epilepsy, Nicole and her husband Justin kept advocating for their daughter to find out more.
After genetic testing and a referral to Le Bonheur Neuroscience Institute Co-director James Wheless, MD, McCall was diagnosed with Dravet syndrome, a lifelong genetic epilepsy characterized by seizures and a deterioration in development. She’s one of many children who depend on the types of clinical trials conducted through the collaborative research effort underway among Le Bonheur, St. Jude Children’s Research Hospital and the University of Tennessee Health Science Center in order to have better seizure control.
At 2 years old, McCall participated in the Fenfluramine trial at Le Bonheur, which proved successful in improving her seizure control and overall condition. After joining the trial, she went four months without a seizure, the longest seizure-free period in her life. In addition, her development increased by leaps and bounds since starting the medication.
“Our comprehensive Dravet program participates in all the clinical trials available, allowing McCall earlier access to new therapies,” said Wheless. “Without clinical trials, access to this treatment could be delayed several years — a lifespan for someone her age.”
And now she is a part of the Envision study, an observational study of children with Dravet syndrome. The Wrights record their daughter’s seizures and have regular appointments for evaluation. The hope is that this study will uncover more information about the disease, how it affects caregivers and avenues for potential therapies for the future.
Her family is holding out hope that a genetic cure is coming soon for McCall. When she was diagnosed, Dravet syndrome was a lifelong sentence. But rapid innovations show that advanced treatments are on the horizon.
McCall Wright at a clinic appointment with Neuroscience Institute Co-director James Wheless, MD.
“At her diagnosis, Dr. Wheless told us this is a lifelong genetic condition, so we prayed that a genetic cure would be found before she loses any quality of life,” said Nicole. “At first, we hoped this would happen in her lifetime, but now we see that this treatment could be available for McCall in a matter of years.”
Wheless is hopeful that forthcoming genetic therapies will treat the underlying genetic problem for McCall and children like her providing seizure control and improved development. Through the collaborative research partnership, this therapy would be able to take place at Le Bonheur Children’s with her current care team.
Clinical trials and new medications have been instrumental to improving and preserving McCall’s well-being and quality of life, said the Wrights. Plus they know that McCall’s participation and input can help other children get adequate treatment in the future.
“Find a specialist you can trust and communicate with well,” Nicole says to parents considering a clinical trial for their child. “We’re confident we have found the very best in Dr. Wheless and his team to help us make decisions for McCall’s benefit.”
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