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STONY BROOK, N.Y., December 20, 2007 – Brynn Mulcahy, eight years old, is a girl with a spark in her eye and an optimistic demeanor. Take that disposition and add a touch of Santa for the holiday season, and you have one happy girl. Brynn and other children treated for inherited metabolic disorders by specialists in Department of Pediatrics at Stony Brook University Medical Center received a special visit by Santa and his Med student elves. The children received warm welcomes, plenty of cheer, candy and gifts too.

Brynn has many reasons to smile. One major reason is the care she has received at SBUMC. At five weeks old, Brynn was rushed by helicopter to Stony Brook with failing kidneys and on the brink of death. Patricia Galvin-Parton, M.D., Director, Inherited Metabolic Disorders and Genetic Counseling Programs, Department of Pediatrics, immediately attended to Brynn on that day in April 1999. Dr. Galvin-Parton began a series of tests and stayed with the patient overnight.

Dr. Galvin-Parton diagnosed Brynn with a rare condition called Multiple Carboxylase Deficiency (MCD). Patients with MCD are deficient in biotin, part of Vitamin B complex. Without treatment, the condition can lead to many complications, including brain damage, and even lead to death. Brynn’s quick diagnosis and subsequent treatment restored her to health, and Dr. Galvin-Parton has cared for her since that time.

Many of Dr. Galvin-Parton's patients took part in the visit from Santa, which was the 12th annual event for pediatric patients cared for through Dr. Galvin-Parton's program. This year several first-year medical students dressed up as Santa, and some students came as elves.

Brynn has visited with Santa at Stony Brook each year of her life. Jon Migliore, 12 years old, has attended all the Santa visits, beginning when he was a baby first receiving treatment. This year, with his Yankee cap firmly in place, Jon gave Santa a handshake and a broad smile.

Pictured with Santa (Justin Margolis, first-year medical student) during his 12th annual holiday visit for children treated for inherited metabolic disorders at Stony Brook University Medical Center are, from left: (Bottom row) Patient Herson Ramirez, with his younger brother, Jorda Ramirez, and patients Brynn Mulcahy and Jon Migliore; (Top row) Maria Puangco-Curcio, nutritionist in Pediatrics; Dana Sabatino, Administrative Assistant, Pediatrics; Jody Weiss-Burns, of the Genetic Counseling Program; Patricia Galvin-Parton, M.D., Director, Metabolic Disorders and Genetic Counseling Programs in Pediatrics, and Margaret McGovern, M.D., Ph.D., Chair of Pediatrics.
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