“I think I know what’s wrong with your daughter.”
Those are dreaded words for any parent. But for Samra and Leonard Savioz of Franklin Park, they were a bittersweet relief.
After a decade of misdiagnoses, the family — members of Beth Samuel Jewish Center in Ambridge — finally knew what their daughter, Remi, had suffered from since birth: a moderate to severe form of Glucose Transporter Type 1 Deficiency Syndrome, also known as Glut 1-DS, or just Glut 1, a pediatric brain energy metabolic disorder.
With fewer than 250 known cases worldwide, this extremely rare disorder causes 12-year-old Remi to have constant petit mal seizures, cognitive impairment, ataxia (lack of coordination of muscle movements), low muscle tone, speech delays and a host of other global deficits.
Remi reached milestones much later than other children: not sitting up until age 4 1/2 or walking until 8.
Today, when you meet Remi, the first thing you notice about her is her captivating personality. She is an eager and willing participant in conversation, even if she knows it is hard for others to understand her words.
“I wish they could concentrate so they understand me,” Remi said.
In addition to talking, she says that writing is also hard. “My hand sometimes gets wiggly,” she said.
She seems to have an innate understanding of the computer and her Wii games, even though she cannot read the words on the screen. And just like most 12-year-olds, she loves Nickelodeon and Disney channels.
Not bad for a little girl who lives with a disease most people have never even heard of.
Dr. Juan Pascual, director of the Rare Brain Disorders Clinic and Laboratory at the University of Texas, Southwestern Medical Center, is one of only a few Glut 1 experts in the world.
“Glut 1 deficiency is caused by a genetic mutation where glucose does not pass through the blood-brain barrier and further into the brain,” he said. “The brain has to have a constant supply of glucose to function normally; without it, there are many problems.”
Chief among those problems is developmental delay, followed by epilepsy and poor movement coordination.
Dr. Darryl De Vivo, the Sidney Carter professor of neurology and professor of pediatrics at Columbia University Medical Center, first identified the disease in 1991. “The three major domains of the brain include cognition, behavior and movement,” he said. “These patients have disturbances of these three domains to a greater or a lesser degree.”
With a normal pregnancy and delivery, the Saviozes were not prepared for the ordeal that propelled them back to the hospital when Remi was only 3 days old, prompted by a nonstop screaming episode.
Remi’s childhood years were marked with multiple infections, pneumonia, chronic dehydration, sepsis, seizures every two seconds (“like a light switch being turned on and off,” says Samra) and once, a temperature of almost 107.
Initially, her parents were relieved to learn from one pediatrician that Remi simply had an inner ear issue and that she was otherwise neurologically intact.
But Remi didn’t get better. While other babies were rolling over, sitting up and smiling, “My baby didn’t do anything,” said Samra, a life coach, personal trainer and owner of Bourne Solutions.
For years, she and Leonard, a chemist and clinical therapist, were told they were overreacting. “I felt like I had to convince people that something was wrong with her, and after a while, I began questioning myself.”
Samra and Leonard also questioned another heart-stopping diagnosis — cerebral palsy. Remi developed tremors in her hands by age 7, but Samra, who has worked with cerebral palsy patients before, said she didn’t see all the symptoms in her daughter that are consistent with CP.
Though living in Pittsburgh, the Saviozes took Remi to see Dr. Neil Friedman, a pediatric neurologist at Cleveland Clinic, who had seen her when she was much younger.
As it turns out, a very simple lumbar puncture to extract spinal fluid was all that was needed to make a definitive diagnosis, which didn’t come until two years ago when Remi was 10. Even though Remi had had several lumbar punctures, no one had thought to test her for Glut 1 until they had returned to see Friedman.
“Part of a complete neurological assessment should include an examination of the spinal fluid; spinal fluid is very informative,” said De Vivo. In Glut 1, the spinal fluid will contain a lower-than-normal amount of glucose, though a diagnosis is much more complicated than that; it involves genetic testing, looking at red blood cells and evaluation of the whole clinical picture. “It’s putting pieces of a puzzle together to get the complete story,” he said.
Pascual and De Vivo said there are likely many undiagnosed cases of Glut 1. Pascual is hopeful that his research lab, which dedicates itself full time to further understanding this genetic disease, will continue to make strides. To help with these efforts, he is planning to create the only worldwide patient registry for the disorder.
Even though Glut 1 is not curable at present, Samra and Leonard immediately launched a plan of attack: after many months of experimenting with recipes, they put Remi on a ketogenic diet, a high-fat diet that follows a very specific carbohydrate/protein/fat ratio.
“The diet is the medicine,” De Vivo said. “This is a disease where the brain is not getting enough fuel to meet its metabolic needs, and the principal fuel for the brain is glucose. The only alternative fuel is ketone bodies, and the only way to maintain this is through a ketogenic diet.”
Indeed, the diet eliminated Remi’s seizures and improved her motor skills. But while her life is immeasurably better, complications can still include an enlarged heart and kidney problems. In fact, Remi has already had two kidney surgeries and also has resulting brittle bone disease because of the absence of calcium in the diet.
The Saviozes say that people who haven’t seen Remi for several years are “blown away” when they see the progress she’s made in the last couple of years. They now describe Remi as “… a happy kid who is determined, funny, positive, compassionate and caring.”
Although Remi says her mom is a good cook, and that her favorite of her mom’s special foods are pancakes, hot dogs and pizza, she said she still wishes she could eat “regular” foods, like chicken tenders and certain types of sandwiches.
Regardless of the roller coaster ride they’ve been on, neither Leonard nor Samra would change anything.
“After all we’ve been through, I never would have chosen to not have her in my life,” Samra said. “I can’t imagine life without Remi. I’ve learned more from her than from any college professor or book. She’s taught me how to be a person, how to love. I don’t know anyone else who is as happy as Remi.”
Once doctors finally diagnosed Remi’s illness, Samra and Leonard started a nonprofit foundation to raise awareness and education about Glut 1 and to help raise money for research.
“We wanted to create a legacy for Remi,” said Samra. “She touches everyone she meets; I want more people to be touched.”
To date, the Remi Savioz Glut 1 Foundation has raised $23,000 through individual and corporate sponsorship as well as charity events, a long way from its overall goal of $2.5 million. The inaugural event was the Ride for Remi in July. This Saturday evening, the foundation will be holding a Boo and Brew at North Park. Future events will include a Cupid Shuffle 5K Race and Relay in February and a Monte Carlo night.
Meanwhile, the Saviozes are anticipating the bat mitzva of their older daughter, Baela. Remi will have her own version of a bat mitzva, too, in the nature of a havdalla service. Samra said that her grandfather’s passion for religion is the reason why she is striving to educate her own children about Judaism.
Remi’s ordeal has been tough on Baela, according to her parents, because they must direct so much attention toward her younger sister.
“She ( Baela) gets the short end of the stick,” Samra said, “which is hard for her to understand.”
All that aside, Remi inspires her family to keep going, whether she’s taking her daily run or just trying to get through each day.
“I think to myself, Remi never complains,” Samra said. “She never stops because she doesn’t have a choice. She is the glue that holds me together through all this.”
“Remi inspires us,” Leonard added. “If other people could take the time to understand her, she’d motivate a lot of people.”
(Hilary Daninhirsch can be reached at firstname.lastname@example.org.)