Duke Children’s Hospital recognizes Rare Diseases Day with a survivor
DURHAM, N.C. (WNCN) – There are more than 7,000 rare diseases in the world.
Less than five percent of them have an FDA-approved treatment.
One 12-year-old girl might not be alive today had it not been for an experimental therapy she received as a baby at Duke Children’s Hospital.
In honor of Rare Diseases Day, Duke invited Sydney Casanova and her family to share their story.
Sydney is your typical 12-year-old girl. She loves taking dance classes, drawing, and singing.
But, there was a time where a normal life for Sydney seemed like a pipe dream to her mother, Melyza. She was diagnosed with complete Digeorge anomaly shortly after she was born.
“It’s not something that’s commonly known,” said Sydney’s mother, Melyza. “You tell people, ‘Oh my daughter has DiGeorge syndrome,’ and they look at you like a Cyclops.”
Digeorge anamoly is a rare disease that affects 1 in 300,000 infants and because of the disease Sydney did not develop a functioning immune system.
Most babies born with it don’t live past 2.
“Your stomach just drops,” Melyza said. “Your heart just drops. Here you are going to the doctor expecting an answer or expecting help and they turn to you and they tell you, this is it your daughter is gonna die and you’re just standing there like what?”
Then Melyza heard about a new experimental procedure being tested at Duke Children’s Hospital.
Pediatrician Dr. Louise Markert pioneered the therapy. Dr. Markert says about seven out of 10 babies who come to Duke for this transplant survive, that’s out of about 85 patients so far.
“I love every baby when I’m taking care of them and the joy that it brings to have a child able to survive and thrive like we’re seeing here with little Sydney is just wonderful,” Markert said.
Sydney says she wants to help other kids like herself. She has some advice.
“Be strong and don’t give up,” said Sydney.
Duke is working with Biopharmaceutical Company, Enzyvant, to get the treatment approved by the FDA. They believe getting FDA approval will improve patient access to therapy. Enzyvant plans to file sometime this year.
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