The Remi Savioz Glut1 Foundation (“RSG1”) is a 501(C)(3) non-profit volunteer organization dedicated to funding research, education and awareness of Glucose Transporters and Glucose Metabolism, with a razor-focus on advancing treatments for Glucose Metabolic diseases such as Alzheimer’s, dementia, epilepsy, heart disease, ALS, cancers and diabetes and Glut1 DS. RSG1 is also committed to creating an awareness of rare diseases.
Additional Information About RSG1
The RSG1 Foundation will provide assistance and support to its broad patient community by providing educational tools for students and school districts that teach children to make a positive impact and teach adults about rare diseases through our “Kids Helping Kids” and “Learning in the Lunchroom Programs.”
Who is Remi Savioz?
Remi Savioz is a beautiful, curious, energetic 13-year-old girl with a spirit and smile that captivates everyone she encounters. When you first meet our youngest daughter, you will notice that she has speech difficulties and some physical challenges. You will also see that she has a tremendous enthusiasm for life and making friends. What is not immediately evident is the remarkable challenges Remi has overcome in her young life.
Starting with her first seizure at 3 days old, Remi’s first year of life was marked by struggles associated with unexplained sickness and subsequent hospitalizations. She experienced a host of medical symptoms, including near-constant seizures, unexplained fevers, tremors, dystonia (sustained twitching and abnormal postures) and hypotonia (low muscle tone). She didn’t meet any typical developmental milestones.
She didn’t roll over as an infant and did not sit until she was almost 4 and a half years old. Walking did not come until age 5 and, even then, she experienced uncontrolled movements, tics and falls. Remi wore a helmet until she was 8 to protect her head from her falling and dropping episodes.
After 8 and a half years crisscrossing the country visiting various specialists and with new symptoms and challenges arising continuously, we decided to reassess Remi’s situation by bringing her to The Cleveland Clinic to be seen by Dr Neil Freidman in the department of pediatric neurology. Dr Friedman consulted with several other specialists in the departments of neurology, epileptology, genetics, endocrinology and ophthalmology.
Each department examined Remi and reviewed her stack of past medical records. Dr Friedman’s thorough and multi-disciplinary evaluation finally led to Remi’s diagnosis with a neuro-metabolic brain disease called Glucose Transporter 1 Deficiency Syndrome (Glut1-DS).
At the time of Remi’s diagnosis (2008), there were less than 100 known cases in the world. The number has since grown worldwide, and there is reason to believe that more cases are going misdiagnosed or undiagnosed due to lack of awareness of the condition.
Glut1-DS is a disorder that prevents the neurotransmitter called Glut1 from transporting glucose through the blood-brain barrier to reach the brain. As glucose is the brain’s principal source of fuel, the brains of people with this disorder are starved for energy and are not getting fed. As a result, they experience myriad physical and mental disabilities ranging from mild cognitive dysfunction to severe cases where the child cannot walk or talk. Because of the delay in finding her proper diagnosis, Remi is now mentally retarded.
The only known treatment to-date for Glut 1-DS is a very restrictive ketogenic diet. The ketogenic diet is a special high-fat diet that relies on oils, heavy cream, butter, and mayonnaise to provide the necessary fat to produces ketone bodies. These ketone bodies can feed the brain and help to control the seizures. The version of the diet that Remi is required to follow is the most restrictive type. It requires the total elimination of sweets (i.e., cookies, candy, cake) and carbohydrate-rich foods (i.e., potatoes, cereal, pasta, rice) and severe limitations on most other foods (i.e., meats, nuts, vegetables and fruits).
Remi began treatment with the ketogenic diet as an outpatient in our home in Pittsburgh (against the advice of The Cleveland Clinic, which would have preferred that she ease into the diet while hospitalized at the Clinic). We were tired of hospitals, however, and with an educational background in nutrition and physiology, her mom was determined to master the diet (with expert guidance, of course) from the comfort of their home. Remi has done remarkably well since the introduction of the food.
Her success can be measured in many ways. Remi began to walk without assistance, use multiple words to form sentences, hold her hands to feed herself, use the toilet unassisted and is now learning some sight memory words. She still struggles, though, and has experienced complications with the diet, such as renal episodes and is monitored with 24-hour urine collections every other month. About 1 year after Remi began the ketogenic diet she developed a 10mm kidney stone and chronic pain in her kidneys. Her calcium levels are very high, and her kidneys do not seem to be able to break down the calcium, and it is, therefore, depositing itself within the organs.
More medications have been added to help to prevent further complications. Given the high-fat nature of the diet, she needs to be monitored for blood lipids. Remi’s cholesterol levels are tested in the hospital every 3 months. Still, she is also tested at home with a monitor to ensure that her triglyceride levels and HDL’s stay at safe levels. Her standards are very high and are best controlled by limiting products such as mayonnaise and creams and relying more heavily upon oils. Oils Remi eats peanut, sesame, olive oil, walnut, to name a few. She has also developed the brittle bone disease as a result of the lack of calcium in her diet. Despite all of this, Remi says she is trying to be more like a normal kid!
For children like Remi with Glut 1-DS, though, it is a race against time. As Remi and others like her develop, the damage becomes progressively worse. Remi often asks us if she will ever be able to have a husband or a family like other people without Glut 1-DS. The truth is, without a more effective treatment or cure, we cannot predict what her future holds.
Remi continues to inspire and amaze us and everyone else who is lucky enough to know her. She continues to tolerate her diet with a little complaint in hopes that she will not regress. She is in a life-skills classroom where she works hard on developing fine and gross motor skills and speech. She loves coming out of her class and interacting with the typical children in fifth grade. She wants to be understood and engaged by them. She loves the kids and her teachers. Remi continues to make “progress” thanks to the diligent and loving care of her sister, her family, doctors, friends and us.
Remi is a source of motivation for her peers and family. It inspires everyone that she meets with her willingness to persevere regardless of the obstacles she is always forced to try and overcome. Remi is a peaceful soul. She has a never-ending smile that is contagious- She touches so many with her gifts. We can only hope to help Remi and the other children that suffer from Glut1 DS.
Remi says: “When they give me a cure, I am going to have a party with a birthday cake and invite friends. I want to be like a normal kid and eat normal food”.
Please help us help Remi and others like her by supporting the Remi Savioz Glut 1 Foundation as we search for a cure.
RSG1 will also provide patient assistance programs for children in the Pittsburgh, PA community and other regions with our “Scales for Patients Program.”RSG1 will continue to develop and fund programs in Pittsburgh, PA for children with rare brain diseases and children that suffer from epilepsy that are non-responsive to traditional drug therapy.
The RSG1 will provide funding for the RSG1 Brain Fund at Children’s Hospital of Pittsburgh to better serve patients and the medical community at large. The Foundation will continue to work towards its mission until no child remains without treatment, cure, proper diagnosis or whose lives are improved and enriched by our efforts.
Chief Medical Advisor
Michael Mueckler, Ph.D.
Departments of Cellular Biology and Physiology,
Washington University, Research in my laboratory is concerned with understanding the regulation of glucose metabolism and its derangement in various disease states.
Lewis U. Davis, Jr., Esq.
Buchanan Ingersoll & Rooney PC
The Savioz Family.