The Guilianna Ghiozzi Fundraiser Campaign was organized to assist in raising funds for 2 year-old, Guilianna Ghiozzi, who suffers from Pyruvate Dehydrogenase Complex Deficiency (PDCD). Below, is a brief history of Guilianna's fight and information regarding the upcoming benefit being held Friday May 12, 2006 in Lynn, MA. Please help in continuing her fight.

Guilianna Victoria Ghiozzi was born on July 25, 2003 at The Birthing Center of Salem Hospital in Salem, Massachusetts.  She weighed 5 lbs. 8 oz. and was 20 ½” long. What should have been a normal birth was instead a fight from the very start. Guilianna was born with her mother’s umbilical cord wrapped twice around her neck and once around her ankle. She was unable to breathe for the first three minutes after birth and required immediate resuscitation. For the first few months she screamed day and night, and her pediatrician thought she might be suffering from colic.

As the symptoms continued, a second pediatrician suggested acid reflux could be the source of the problems. Guilianna was sent to a gastroenterologist, where she underwent an upper GI endoscopy and began treatment for severe acid reflux.  Through monitoring her daily eating habits, the doctors found her intake and weight gain to be unsatisfactory, and she was diagnosed with failure to thrive. Her traumatic birth would later lead to the onset of cerebral palsy. She was just three months old.

The doctors advised sending Guilianna to Children’s Hospital Boston to have a nasogastric tube inserted through her nose and down into stomach.  During her stay at the hospital, doctors examined Guilianna’s underdeveloped muscles, and they diagnosed her with hypotonia.  Her stay at the hospital was extended, and she was put through a full neurological work-up:  brain Magnetic Response Imaging (MRI), Auditory Brainstem Response (ABR) test, Electromyogram (EMG) procedure, swallow study, and multiple blood tests.  The tests concluded that she had hearing loss, delayed myelination of the brain, and suck-swallow-breathe coordination problems. 

Guilianna was released from the hospital, but she was hardly free to be a kid again.  A visiting nurse was assigned to meet with her daily, she required Early Intervention services, her weight was checked weekly by her pediatrician, and she had to be fed manually through her nasogastric tube, an uncomfortable and painful process that continued for three months.
 
After continued tests and meetings with various specialists, there was still no real diagnosis for Guilianna’s complications. At six months of age, Guilianna’s hearing tests were causing concern.  She was fitted for hearing aids. At nine months, Guilianna had a second brain MRI.  The results were completely normal, which confused her doctors and raised many unanswered questions about her developmental delays.  Her motor skill levels were equivalent to those of a newborn. At a year-and-a-half, Guilianna was readmitted to Children’s Hospital Boston, where she was placed under anesthesia to undergo nerve and muscle biopsies, a spinal tap, an ear examination, and a second ABR test. At the conclusion of the tests, Guilianna struggled to come out of the anesthesia and needed her breathing to be stabilized. The ear examination confirmed that she had profound hearing loss. The nerve and muscle biopsies produced abnormal results, including an indication of peripheral neuropathy and possible metabolic or muscular disorders.

The top PDCD specialists in the country are Dr. Douglas S. Kerr, in Cleveland, Ohio, and Dr. John Shoffner, in Atlanta, Georgia. With your generosity, we will provide Guilianna and her family with the resources to meet with these specialists, to determine the severity of Guilianna’s case, and to provide the love and help she so desperately needs to have a chance at a long and happy life.