Nicole Batista is a 9-year-old girl who packs a whole lot of personality. But something was causing her severe health problems since birth, even requiring her to have open heart surgery at just 17 days old.
"If it wasn't for the oxygen, you would see her and say, 'Why is she here?' She looks like a normal, perfectly healthy baby. But inside, it's a different story," said her mother, Yuneisy Perez.
Nicole's medical mystery led Dr. Mustafa Tekin and his team at the University of Miami's Miller School of Medicine to search for a diagnosis to her unidentified illness. The medical school is now one of five academic sites across the nation to join the National Institute of Health's Undiagnosed Disease Network. The team at UM was able to dig deeper into Nicole DNA's and uncovered a unique mutation in one of her genes, called ACTA-2.
The ailment is savagely attacking Nicole's eyes, brain, heart, lungs and bladder and could even lead to a stroke. Now scientists have a name for this newly identified disease.
"That condition was a new, previously unrecognized disease or disorder, which is called Systemic Smoother Muscle Dysfunction Syndrome," he said.
Nicole is now part of a program at the Center for Genome Technology at the Miller School of Medicine, where advanced disease detectives search for clues hiding inside DNA, hunting for unknown and, at times, incurable diseases.
"With rare disease we are always limited to a small number of patients, and that's why the diagnosis makes the big step. And in the long run what is important is to figure out the underlying biology," Dr. Tekin said.
Nicole's mother is thankful she was able to get answer's to her daughter's mystery condition.
"I'm from Cuba, and I always say that if she was born in Cuba, she wouldn't be here," she said.
Like many kids her age, Nicole has always wanted to go to Disney World, but for the last several years her doctors barred her from going because of the germs lurking in crowded places.
"So for her, the danger is in infection. Earlier she had a common cold and then that led to severe respiratory failure and that's why that's dangerous for her," Dr. Tekin said.
But two weeks ago, Nicole's dream came true and the family took a trip to visit Disney.
Dr. Tekin and his team continue to treat Nicole and search for answers her rare disease and others.
Meanwhile Nicole's mom hopes for a cure so this little girl with the sparkling personality can one day lead the life she truly deserves.
"Keep being joyful," she said. "Grow up old, have her own family and fulfill all her dreams. That's what any mother would want."
If you'd like to learn more about the Undiagnosed Disease Network, call to make an appointment at 305-243-6006 or visit their website.