Remis Story Remi Savioz is a beautiful, curious, energetic 11-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 notice 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, Remis 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 didnt meeting any normal developmental milestones. She didnt 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 Remis 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. Friedmans thorough and multi-disciplinary evaluation finally led to Remis diagnosis with a neuro-metabolic brain disease called Glucose Transporter 1 Deficiency Syndrome (Glut1-DS). At the time, there were less than 100 known cases in the world. That number is now around 200 cases worldwide and there is some reason to believe that there may be more cases going misdiagnosed or undiagnosed due to lack of awareness of the condition. Glut1-DS is a disorder that prevents the neurotransporter called Glut1 from transporting glucose through the blood brain barrier to reach the brain. As glucose is the brains 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 toproduces 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 and 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 diet. 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 kidneys. 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. Remis cholesterol levels are tested in the hospital every 3 months but she is also tested at home with a monitor to ensure that her triglyceride levels and HDLs stay at safe levels. Her levels are very high and are best controlled by limiting products such as mayonnaise and creams and relying more heavily upon oils. Oils Remi eats are peanut, sesame, olive oil, walnut to name a few. She has also developed 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! Remi is now following up at the University of Texas Southwestern Medical Center with Dr. Juan M. Pascual. Dr. Pascual is the head of the department of neurometabolics and is leading the research effort to find a cure for children who are suffering from Glut 1-DS. Dr. Pascual believes that there is synthetic oil that is being produced by a petroleum company in Germany that may help children with Glut1-DS. He has seen positive changes in the laboratory rodents that have been generated from stem cells injected with Glut1-DS. This is promising for us and we are hopeful for any positive research treatments. For children like Remi with Glut 1-DS, though, it is a race against time. Obviously, 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 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 classroom 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, and inspires everyone that she meets with her willingness to persevere regardless of the obstacles she is constantly 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 with Glut1 DS. Remi says: When they give me a cure, I am going to have a party with birthday cake and invite friends. I want to be like a normal kid and eat normal food.
Posted on: Wed, 06 Aug 2014 01:02:32 +0000
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