Press Release
FOR IMMEDIATE RELEASE
Contact:
Samra Savioz
(724) 272-8797
info@remisglut1foundation.com
Pittsburgher Afflicted with Rare Disease
Pittsburgh, PA (June 8, 2010) 11-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 250 worldwide who has the disease, and most cases are probably 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 tremors, dystonia (arm or leg muscle stiffening), and low overall muscle tone. As a consequence 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 spent countless hours reviewing Remi's medical history and records and with help from doctors of various backgrounds from Columbia University, Remi was diagnosed. The diagnosis was a rare neuro-metabolic brain disease called Glucose Transporter 1 Deficiency Syndrome.
When Remi was diagnosed with the disease, there were less than 100 cases in the world. Today, that number has risen to more than 250 cases and new patients are diagnosed on a daily basis by genetic testing performed by only a handful of specialists. 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. The diet has been in use since the 1920s for the treatment of severe types of epilepsy, although it does not cure them. 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 never complains about her specialized diet or any other incidents that result from GD 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 principal researcher involved in finding a cure for GD. Remi is a shining light that motivates us to put our best foot forward when it comes to research and investigation of this disease. There are many leads to follow to better understand the condition and significant treatment efforts are under development now, but the limiting factor is the amount of awareness and funds allocated to research on this not so rare disorder.
Remi's family and friends will be holding the first ever North American fundraiser for GD on Saturday, July 24 in North Park. The event is titled Ride for Remi and will include 25- and 50- mile bike rides, as well as a family 5-mile bike ride. A silent auction and carnival will also take place to help raise money to 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 Ride for Remi event, please contact Samra Savioz at (724) 272-8797 or email info@remisglut1foundation.com.
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The Remi Savioz Glut1 Foundation was started in January 2010 by Remi's parents, Lenny and Samra Savioz. The purpose of the foundation is to raise awareness of the disease and help to raise funds to support the research effort in finding a cure for Glut 1. For more information visit www.remisglut1foundation.com.
