Neurologists are highly trained medical professionals who play a critical role in the healthcare system in helping patients of all ages manage their conditions that can affect every aspect of their lives. Each month, NeurologyLive® shines a spotlight on the work of one neurologist, highlighting contributions to their specific field.
Tuberous sclerosis complex (TSC) is a rare, lifelong genetic disorder characterized by the growth of benign tumors in various organs, including the brain, spinal cord, nerves, eyes, lungs, heart, kidneys, and skin.1 Although there is currently no cure for TSC, some symptoms can be managed with targeted treatments. The clinical presentation and prognosis are highly variable, ranging from patients who lead independent, productive lives to those with severe, life-altering, or life-threatening symptoms. Seizures are a common manifestation, affecting most patients with TSC at some point. These seizures can vary in presentation, including convulsive movements or nonconvulsive episodes that alter awareness, behavior, or postural tone.
In honor of National Epilepsy Awareness Month, held November 2024, Stephanie C. Randle, MD, MS, director of a Tuberous Sclerosis Complex Clinic at Seattle Children's Hospital, shared her clinical experience in a recent conversation with NeurologyLive. Randle talked about how she balances various aspects in her role such as patient care, research, and education as well as helping her patients manage the challenges associated with TSC. She also spoke about how collaboration between families and other care providers can ensure comprehensive care for pediatric patients with TSC and related conditions. Moreover, she provided strategies or approaches that have been most effective in raising awareness and improving early identification of TSC among clincians and patients' families.
Clinical Facts on Tuberous Sclerosis Complex
- TSC occurs in all races and, ethnic groups, and in men and women. In the United States, an estimated 1 in 6000 children are born each year with this disorder.
- If a parent has TSC, each child has a 50% chance of developing the disorder. Children who inherit TSC may not have the same symptoms as their parent and may have either a more mild or severe form of the disorder.
- TSC is caused by genetic mutations on either the TSC1 or TSC2 gene. Only one of the genes needs to be affected for TSC to be present. A mutation of either one of these genes leads to abnormal development and exponential growth of cells in the body.
REFERENCES
1. National Institute of Neurological Disorders and Stroke. Tuberous Sclerosis Complex. Health Information. Accessed November 27, 2024. https://www.ninds.nih.gov/health-information/disorders/tuberous-sclerosis-complex
NeurologyLive: What are some of the main responsibilities you have in your role?
Stephanie C. Randle, MD, MS: I run our TSC clinic and am the medical director of the epilepsy surgery program. The majority of my clinical practice is caring for children with TSC, TSC related epilepsy and drug resistant epilepsy. I also spend part of my clinical practice reading and interpreting electroencephalography (EEG) studies.
Could you describe a typical day in your work?
From one week to the next my days can vary! I work in the hospital on call for EEG reading one week per month. The remainder of the month, I spend time seeing patients in clinic in Seattle and in Eastern Washington. I typically have 2-4 dedicated TSC clinics per month and the remainder are for patients with epilepsy. I usually spend 1-2 days per month reading the outpatient EEG tests. The remainder of my time is dedicated to research, program development and resident doctor and student education.
What motivated you to pursue this career, and when did you make this decision?
I knew from an early age that I was interested in becoming a doctor. I was always interested in neurology and the brain. I had early exposure to the field by hearing my mother’s stories about the children she taught with special needs. I went on to study neuroscience in college and worked with a pediatric neurologist doing research in children with prenatal strokes. We looked at how the brain reorganized after an early injury. I was just so fascinated by how resilient children’s brains are! My focus in epilepsy came from my neurology residency. I loved reading EEGs, managing different medications and looking at nonmedication options for treatment of seizures. I became specifically interested in TSC after helping to diagnose and care for a baby with TSC and seizures. As a subspecialist, it is very easy to become hyper focused on one area of the body. I love that acting as the medical home for my patients with TSC, I still think about more than the brain!
