CORPUS CHRISTI, Texas — “No symptoms” are two words families experiencing a rare disease would give anything to hear.
February 28 is Rare Disease Day. A rare disorder is a disease or condition that affects less than 200,000 Americans. Something called Tuberous Sclerosis Complex, or TSC, meets that criteria.
Nora Navar, a Corpus Christi child living with TSC, shows no signs of it, thanks to an ongoing clinical drug trial.
Nora’s parents did IVF to conceive here, a lab fertilization process, because mom, Cheryl Navar, has a cancer gene she did not want to be transferred to Nora.
“So, to have them tell us that she has a different gene disorder, it was terrifying,” Cheryl said.
Cheryl’s miracle baby was diagnosed with TSC before she was even born. The first signs showed up by ultrasound as tumors in Nora’s heart.
“They turned up as, like, bright white spots,” Cheryl described.
Her daughter’s life started with an assembly of cords being attached to her body, and Nora will always have to check in with a doctor. What really matters, though, is that Nora is an inspiration.
“In the world of Tuberous Sclerosis, she truly is a success story,” said Mary Kay Koenig, co-director of the University of Texas Tuberous Sclerosis Center.
As a newborn, Nora was involved in the first trial of a medicine to potentially stop or control TSC symptoms, and it is working.
“She has no symptoms that we’ve been able to identify at this time. She did develop seizures and did have some delays in her language development, but the seizures are gone; she’s off all seizure medicines, and her language has caught up. She is on the developmental track for her age,” Koenig said.
The progress Nora has made is obvious. She prances, screams, laughs, and runs all over Lamar Park in Corpus Christi, a place her parents take her often. As Nora plays, mom and dad relish the miracle of modern medicine.
“We are not the scientists, and we don’t know for sure, but in our hearts, we believe that putting her on the medicine as early as we did is what’s giving us this great outcome that we have so far,” Cheryl said.
The hope is to have all children born with TSC follow the same path Nora is on. So, researchers are studying the medication she is taking at UT Health Houston. They have one patient and need to recruit seven more. Dr. Hope Northrup is leading this research. She also cared for Nora and says babies six months and younger diagnosed with TSC and have not had a seizure can enroll.
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