Genetic Testing Discovers Surprising Brown Vialetto Van Laere Syndrome Diagnosis

Classifying Brown-Vialetto-Van Laere syndrome (BVVL), also known as Riboflavin Transporter Deficiency (RTD), as a rare disease in an understatement. There have only been about 100 cases ever diagnosed. That means not only is it incredibly unlikely to be the cause of what ails you, but it is also almost impossible a doctor would think to check for it. Fortunately for Cara, a unique batch of genetic tests were able to pinpoint her condition. Keep reading, or follow the original story in CBS to learn more.

Cara Greene was like any other two year old. She was entirely healthy until last November. Her parents were the first to notice something was wrong. Cara’s mother, Kristen, realized Cara’s eye were different. The movement patterns were erratic.

“You would look at her and her eyes would just move all over,” Kristen said.

It was a frightening discovery. Weeks from their initial concern, Cara began to lose muscle control. She became unbalanced. She had difficulty standing. Limpness crept into her arms. Even holding her own head up became difficult. Kristen and Cara’s father, Clayton, saw Cara dropping toys at first. Then they were shocked to see her falling on her face. Cara wasn’t able to catch herself with her arms.

Kristen and Clayton did what any parent would have. They took Cara to the doctor. She sat for a variety of tests.

Nine different doctors were consulted. They tested for everything they could think of. The possibility of a brain tumor loomed in the background. Cara’s parents were frightened they might lose their daughter. Kristen worried it was an inevitability.

Doctors had decided that Cara was likely to have an autoimmune disorder. In a few days she was to start treatment with chemotherapy. That’s when the Greene family met Dr. Vandana Shashi. Dr. Vandana Shasi worked as a geneticist at the Duke University Medical Center. She and her team suspected that Cara’s symptoms were the cause of a genetic disorder rather than an autoimmune one.

Thanks to recent advances in technology, and the Duke team’s access to them, they were able to test Cara quickly. Normally it takes several months for the fully array of genetic testing the Duke team provided. Dr. Vandana Shasi’s team was able to accomplish the task in three weeks.

This advanced genetic testing technique enabled the researchers to find a needle in a haystack. Brown-Vialetto-Van Laere syndrome has been diagnosed only around 100 times. Traditional examination may never have discovered it’s cause. Without Dr. Vandana Shashi and her team, Cara’s diagnosis may never have been found. To learn more about BVVL, click here.

As exciting as discovering a correct diagnosis may be, there was better news. The correct diagnosis meant that Cara’s condition was treatable. It became unnecessary to worry about tumors or chemotherapy. The Greene family received received the good news that, though Brown-Vialetto-Van Laere syndrome is complex in name, it’s simple in treatment.

“So, you’re telling us if we give her a vitamin that she’s gonna stop getting worse and she might get better,” Cara’s father asked.

Indeed, Cara was deficient in vitamin B2 as a result of her disease. Large doses of the vitamin have greatly improved her condition. Cara can once more raise her arms on her own. She can feed herself again, all thanks to a brilliant team of geneticists, and the research they conduct.

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