Parents organize conference on child's rare disease: Remi's Glut1 disease
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Every now and then, a child with a virtually unknown, incurable disease happens to have parents so determined and indefatigable that clinicians, researchers and doctors have little choice but to pay attention to them.
Susan Sarandon played such a parent in the 1992 film "Lorenzo's Oil," and Samra Savioz and her husband, Leonard, have lived that role ever since their daughter Remi was born 14 years ago -- relentlessly pursuing a diagnosis for Remi's mysterious seizures until finally, in 2007, a doctor diagnosed Glucose Transporter Type 1 Deficiency Syndrome, or Glut1. That's a rare metabolic disorder that can cause epilepsy, cognitive impairment, lack of muscle coordination and other ailments.
There still is no cure for Glut1, but the Franklin Park couple started a foundation in January 2010 aimed at finding one.
On Friday and Saturday, their persistence will pay off at the first medical conference sponsored by the Remi Savioz Glut1 Foundation in Orlando, Fla., where 19 researchers will gather to discuss the role that glucose transporters play in managing that disease and others -- from cancer to Lou Gehrig's disease to Alzheimer's.
"When my husband and I started our foundation, we were just focused on treating Remi's Glut1 disease," said Ms. Savioz, a therapy consultant for implantable devices, such as pacemakers.
"But because of the rareness of the condition, our efforts weren't gaining a lot of traction. And because other diseases may benefit from the research that's going on right now, we knew we needed to broaden the scope of our mission. So we opened our umbrella up wider."
The foundation so far has raised $150,000.
The conference has attracted clinicians from as far away as Germany, as well as from Penn State University, University of Michigan, Case Western Reserve University, Washington University and other major health centers from across medical disciplines -- including pediatrics, neuro-oncology and endocrinology. They will present papers on glucose transporters -- the vehicles that carry energy in the form of glucose to the brain -- and the role they play in a host of diseases.
Patients with Glut1 don't produce enough of the proteins that transport glucose to the brain. Glucose provides the energy needed for healthy brain function.
But there are promising therapies out there, including ketone esters, organic compounds produced in a laboratory that some experts believe can return cognitive function to Alzheimer's patients.
Those involved with the conference hope it will produce "an increased collaboration among these leading researchers to catalyze more research and insights into the role glucose transporters can play" in a range of diseases, Michael Mueckler, professor of cell biology and physiology at Washington University of St. Louis, said in a statement posted on the foundation's website, www.remisglut1foundation.com.
While thousands may have Remi's Glut1 disease, only 250 have been diagnosed to date. It is caused by a genetic mutation.
Remi began suffering seizures at birth, but doctors had no idea what was wrong. They diagnosed an inner-ear infection, cerebral palsy and other ailments -- all were wrong. As Remi continued to suffer repeated seizures, multiple infections, pneumonia, high fever, dehydration and sepsis, doctors remained baffled. Ms. Savioz, a personal trainer, and her husband, a chemist and clinical therapist, kept pushing for answers.
Even a roundtable of more than 20 neurologists at Children's Hospital of Pittsburgh of UPMC, held when Remi was 4, failed to find an answer.
Then the Saviozes remembered they had seen a doctor, Neil Friedman, at the Cleveland Clinic when Remi was a baby, who told them it would be easier to make a diagnosis when she was older. They contacted him again, and he combed through the girl's medical records. With a team of specialists, he tested and diagnosed Remi as having Glut1.
While it was a huge relief to know the truth, it was only the beginning.
Remi was put on a high-fat, low-protein, low-carbohydrate "ketogenic" diet at the urging of Darryl De Vivo, a doctor and professor of pediatrics at Columbia University Medical Center who discovered the disease in 1991. Ketones result when the liver converts fat into energy. The diet requires 2 to 3 grams of fat for every gram of protein or carbohydrate consumed, although for Remi and other Glut1 patients, the ratio is 5 to 1.
Remi's seizures disappeared, she learned how to talk and no longer had to wear a foam helmet to protect her from injuring herself, but it's a tough diet to stick to -- Remi can never have candy, soda, cake or ice cream, and she can never vary from the diet because of the risk that it will no longer work if she goes back on it.
While the diet has dramatically eased Remi's symptoms, it won't work for everyone. So researchers are looking at the role of ketone esters, which might mimic the ketogenic state produced by the high-fat diet.
The bottom line is that at the conference, all of these researchers will be in one room, looking not just at ester therapy for one rare disease but its potential to combat some of the most common scourges of human health.
It is yet one more step in a journey that started 14 years ago, said Ms. Savioz, one in which she and her family no longer are alone.
"Remi gives me the reason to do this, but there are so many others who can benefit from this research," she said. "I can't take away her disease, but if I can use what I know and create broader outreach for potential treatment for others, then I have to do that."
First Published July 5, 2012 12:00 am