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August 12, 2011
Doretta Royer 315 464-4833

Upstate’s VCFS Center attracts patients from afar

SYRACUSE, N.Y. — One can’t help but see that little Luciana Alvarado feels at home on the lap of her dad, Marcel, in Dr. Robert Shprintzen’s examination room at the VCFS (Velo-Cardio-Facial Syndrome) International Center at Upstate Medical University.

But, this brown-haired, five-year old girl with a long ponytail is far from home. She’s at the end of a two-week visit that took her and her family more than 2,300 miles from their home in Panama City, Panama, to Upstate, where she received specialized medical care unavailable in her native country.

Luciana needed a pharyngeal flap operation to correct a speech and language impairment resulting from VCFS, a complex genetic condition characterized by a combination of more than 190 physical, behavioral or biochemical characteristics, including, but not limited to, abnormal pharyngeal development and velopharyngeal incompetence, and heart defects. VCFS also came to be called Shprintzen syndrome after Upstate’s Shprintzen, who is credited with delineating the VCFS genetic disorder.

Luciana was diagnosed with VCFS at three months of age when doctors in Panama discovered a congenital heart disorder that placed her in a risk category for VCFS screening. After an operation in Boston to correct the heart disorder at the age of one, she spent her toddler years clear of VCFS symptoms. However, when she began to form words and sentences, her parents noticed that she had a hypernasal tone to her voice and that her words and sounds were difficult to understand.

“She was seen by a speech therapist at home and that helped, but we were told that only a certain type of surgery not available in Panama could correct her problem,” said Marcel Alvarado. “We searched the Internet for help and found the VCFS International Center at Upstate.”

“The Alvarado family contacted us last November through our Distance Care program,” said Shprintzen, director of the VCFS International Center, the Communication Disorder Unit, and the Center for Genetic Communicative Disorders at Upstate. He is also professor of otolaryngology and pediatrics at Upstate. “We used Skype to speak to Luciana and her parents and to assess results from tests conducted by her physicians in Panama City.”

Shprintzen and his colleagues determined that Luciana would be a good candidate for a pharyngeal flap operation. “Luciana had an anatomical deficiency in her palate which is common in VCFS patients,” he said. “She lacked separation between her oral and nasal cavities, resulting in air escaping from her nasal cavity. This caused her inability to correctly resonate sounds. This operation would restore her velopharyngeal competence by developing a functional seal between her nasal cavity and her oral cavity.”

Shprintzen and Anne Marie Higgins, clinical and research coordinator for the VCFS International Center, then referred the Alvarado family to Sherard Tatum, M.D., of Upstate’s Department of Otolaryngology and Communication Sciences, who operated on Luciana June 28.

According to Shprintzen, Tatum he has become the world’s most experienced surgeon to perform this operation on VCFS patients. In addition, Tatum has added advanced techniques to this surgery, enhancing speech results for these patients.

“It will take a few months before we can call the surgery a success, but the initial outcome looks good,” Shprintzen said. “After her follow-up visit to us within the year, she shouldn’t require any more operations to correct this problem.”

Luciana’s parents are elated: “We had wonderful support from everyone at the VCFS International Center. They made us feel comfortable and very much at home.”

The VCFS International Center continues to advance its global reach. This summer, patients from Italy, Australia and Ireland are scheduled to visit the center for the same operation performed on Luciana.

The VCFS International Center is a division of Upstate’s Department of Otolaryngology and Communication Sciences. For more information about VCFS, visit http://www.upstate.edu/uh/ent/vcf.

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