Days before starting chemotherapy, doctors realized they misdiagnosed this little girl - the real reason for her episodes was so simple no one could believe it
Posted July 9
Cara Greene was a happy, seemingly healthy two-year-old girl when her parents, Kristen and Clayton, noticed her eyes were moving rapidly and she was becoming weaker every day.
Cara’s condition only got worse
Her parents were concerned with her eye activity and said, “Her eye movements were just completely erratic and that was really scary … You would look at her and her eyes would just move all over.”
But their concern turned into horror when their sweet toddler started dropping toys, couldn’t hold her head up. She was falling on her face, unable to catch herself.
Doctors couldn’t figure it out
After visiting multiple doctors with no luck of finding what was wrong with Cara, she was tested for a brain tumor and was set to start chemotherapy “for a presumed autoimmune disorder,” according to CBS News.
Then, geneticist Dr. Vandana Shashi from Duke University and her team of researchers decided to help this little girl right before she was to start chemotherapy. They were hopeful their new technology could save this child months of agony.
They finally cracked the (genetic) code
According to CBS, the researchers got to work and accelerated the process that typically takes up to three months. After just three weeks, they found what had been causing this little girl to lose control of her muscles and eyes.
What was thought to be an autoimmune disorder was actually “a genetic mutation so rare only about 100 cases have been diagnosed.”
Dr. Shashi could hardly wait to tell Cara’s parents the news that their daughter, although she had a rare condition, would be just fine. According to Little Things, Dr Shashi said, “That morning, before we gave them the results, my heart was racing. I was so excited, I wanted to rush into that room and tell them, ‘We have a treatment for your daughter.’”
The simple treatment
The treatment was simple. Cara was diagnosed with Brown Vialetto Van Laere Syndrome (BVVL). This genetic mutation made her body unable to process vitamin B2 normally, so the treatment consisted of very high doses of it.
Her parents were shocked and relieved. Her father commented, “So you’re telling us that if we give her a vitamin that she’ll stop getting worse, and start getting better?”
Cara will have to take high doses of vitamin B2 for the rest of her life, but should be able to live like any other normal human. Just weeks after starting the high doses of the vitamin, she was walking around and back to her usual self.