Girl with TSC Shows no Symptoms After Clinical Trial Involvement


When Cheryl Navar decided to have a child, in-vitro fertilization (IVF) seemed like the right move. Navar knew that she had a cancer gene and didn’t want to transfer that to her daughter. But, shares Kris 6 News, the family got quite a shock when daughter Nora was diagnosed with a rare genetic disorder called tuberous sclerosis complex (TSC) in the womb. The Navar family found out after an ultrasound saw tumors in Nora’s heart. 

Shortly after Nora’s birth, she was enrolled in a clinical study. Within this study, researchers are evaluating a therapy designed to reduce, manage, or even stop symptoms related to TSC. Nora has not been completely symptom-free throughout her journey. At one point, she had language and speech delays, as well as seizures. But the medication has significantly changed her outlook.

Since beginning the medication, and throughout her time in the study, Nora showed incredible improvements. Her seizures not only stopped, but she was able to stop her anti-epileptic medication. Developmentally, Nora is on track for her age group; she has also developed age-appropriate language skills. Her parents cannot help but grin as they watch her playing and enjoying life at the park. 

Additional studies involving this medication are taking place at UT Health Houston. There are also a number of other trials looking to find therapeutics for TSC. Learn more about these studies here

Tuberous Sclerosis Complex (TSC): An Overview

TSC1 and TSC2 gene mutations cause tuberous sclerosis complex, a rare genetic multisystem disorder. Most mutations are spontaneous (de novo) and occur in people with no family history. TSC causes noncancerous (benign) tumors called hamartomas to grow in different parts of the body, most commonly the skin, lungs, heart, brain, and kidneys. This condition typically manifests in infancy or early childhood. Symptoms vary in presentation and severity; these may include:

  • White or light-colored patches on the skin 
  • Small red facial lesions that may appear in a butterfly-pattern on the face
  • Developmental delays
  • Shagreen patch (a rough, dimpled area of skin, often on the lower back)
  • Seizures 
  • Hair loss
  • Benign tumors around the nail beds
  • Behavioral problems such as hyperactivity, aggression, social withdrawal, or repetitive behaviors
  • Hydrocephalus
  • Sleep disturbances
  • Collapsed lung
  • Irregular heartbeat

Please note that this is not an exhaustive list of symptoms.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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