None — 12-year-old Remi Savioz was diagnosed with a rare neuro-metabolic brain disease called Glucose Transporter 1, which affects the amount of glucose that reaches the brain. She is one of only 200 worldwide who has the disease, and many cases are still going undiagnosed because of the lack of information available. Earlier this year Remi's parents started The Remi Savioz Glut1 Foundation to raise awareness, educate and to help find a cure for the disease.
Remi Sophia Savioz was born on May 20, 1998 to parents Samra and Leonard Savioz. Just three days after returning home from the hospital, Remi began suffering from uncontrollable seizures followed by countless visits to the hospital. As doctors searched for a diagnosis, Remi continued to experience near constant seizures along with high fevers, tremors, dystonia, hypotonia and low muscle tone. As an effect of the illness, Remi also started to develop slower than most children her age. She did not sit up on her own until the age of four and only started walking at the age of five.
After eight and a half years of visiting specialists across the country, Dr. Neil Freidman, from The Cleveland Clinic gathered information from Remi's extensive medical records and with help from doctors of various backgrounds, was able to assist in the diagnosis of a rare neuro-metabolic brain disease called Glucose Transporter 1 Deficiency Syndrome. (Glut 1-DS)
When Remi was diagnosed with the disease, there were less than 100 cases in the world. Today, that number has risen to more than 200 cases. The only known treatment for the disease is a very strict ketogenic diet, which is a high-fat diet that relies heavily on butters, oils, heavy creams and mayonnaise to produce ketone bodies. The ketone bodies help to control the seizures. Remi currently follows this diet and has been able to see short-term improvements.
"Remi's strength and determination are a true source of inspiration for children with the disease," said Samra Savioz, Remi's mother and executive director of The Remi Savioz Glut1 Foundation. "We started the foundation not only for our daughter, but to build awareness and education around the diseases as well as provide a ray of hope for other children with a similar diagnosis to Remi."
"Remi does not complain about her specialized diet and always has a big smile on her face," said Dr. Juan Pascual, from the University of Texas Southwestern Medical Center. Dr. Pascual is the head researcher for finding a cure to Glut 1-DS. "Remi is a shining light that motivates us to put our best foot forward when it comes to research and investigation of this disease."
The Pittsburgh Pirates Organization and The Remi Savioz Glut1 Foundation will be holding the first ever Glut1 Awareness Night at PNC Park on September 3, 2010 at 7:05pm. Tickets purchased via mail or by phone referencing the foundation will assist in the fundraising efforts of the foundation. The flyer is found at www.remisglut1foundation.com . The proceeds raised will support research to find a cure for the disease.
Editor's Note: if you would like to learn more about Remi, the foundation or the "The Remi Savioz Glut1 Awareness Night at PNC Park" event, please contact Samra Savioz at (724) 272-8797 or email info@remisglut1foundation.com.