Before being treated by Mary Kay Koenig, M.D., an expert in mitochondrial diseases at Memorial Herman Hospital in Houston Texas, five-year-old Katie lived a life of daily seizures, developmental deficits and repeat visits to specialists who had no answers. Just months after beginning treatment for a glucose transporter deficiency, she could talk and run for the first time in her life.
Katie’s parents first noticed that she was not developing normally in the fall of 2004, when she was just four months old. “She was my third child, and I knew something wasn’t right,” recalls her mother Keri of Denham Springs, Louisiana. “When I’d put her down, she wanted to be held, but when I picked her up, it seemed to be painful. Then she started having spells. One time she couldn’t track the light. Other times she would go limp on us. The spells could be very short – a matter of seconds – or go on for hours. By the time we’d get her to the doctor, whatever was happening to her was finished.”
Katie also had low muscle tone and was developmentally delayed. She couldn’t support herself in a seated position until the age of eight months and didn’t start crawling until she was 11 months old. Around that time, her pediatrician referred her to a Baton Rouge neurologist for an opinion. The neurologist advised Katie’s parents that children develop at different rates and assured them not to worry.
Eventually, Keri scheduled an appointment with the neurologist’s partner, who did an electroencephalogram and diagnosed Katie with epilepsy. “At the time, her blood work showed unbelievably high alkaline phosphatase levels, which sent us off on a wild goose chase. We had bone scans, saw a hematologist and had MRIs done of her liver. One doctor told us her liver was enlarged. Another doctor told us it was normal. Eventually, we had a liver biopsy done to be certain.
“We began to understand the complexity of our problem and knew we needed help,” Keri says. “She was falling asleep in school, lying here like a rag doll and having seizures all day long. She was very delayed cognitively and physically, and she had no energy. Some days were better than others. The worst thing was not having a diagnosis. Doctors would tell us they believed it was this or that, and you need to see someone else but we don’t know who to refer you to.”
Over the next two years, Katie had repeat visits to five neurologists, a hematologist, a gastroenterologist and an endocrinologist before being tested by a well-known Atlanta specialist in mitochondrial disorders, who diagnosed her with a complex I mitochondrial disorder. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for more than 90 percent of the energy needed by the body to sustain life and support growth. When they begin to fail, less and less energy is generated within each cell, ultimately leading to cell injury and in some cases, cell death. If the process is repeated throughout the body, entire systems begin to fail, compromising the life of the patient.
Mito most frequently affects the cells of the brain, eyes, ears, heart, liver, skeletal muscles, kidneys and the endocrine and respiratory systems. The disorders produce a variety of symptoms, depending on the cells affected. In addition to neurological issues like seizures, symptoms may include muscle weakness and pain, loss of motor control, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, visual and auditory problems, developmental delays and susceptibility to infection.
“We had a muscle biopsy done in Atlanta in September of 2007,” Keri says. “The following December, we received a letter from the doctor telling us that she had mito. There was no real explanation and no follow-up. When our neurologist saw the report, she told me, ‘Your child may have periods during which she catches up developmentally but she will continue to regress until she reaches a vegetative state. She will not be able to walk and will need a wheelchair. Eventually, she will die. Do you understand that?’"
“But I didn’t believe it,” she says. “We always felt like something could be done.” The family met Mary Kay Koenig, M.D., in June 2008 at a United Mitochondrial Disorders Foundation conference held in Indianapolis. Dr. Koenig is a pediatric neurologist affiliated with Children’s Memorial Hermann Hospital and an assistant professor in the Department of Pediatrics, Division of Child and Adolescent Neurology, at The University of Texas Medical School at Houston. She’s also an expert in mitochondrial diseases and a member of the Board of Directors of the United Mitochondrial Disease Foundation–Houston Chapter.
By then, Katie had started developing visual loss. She was admitted to Children’s Memorial Hermann Hospital in July 2008 for evaluation. When an MRI of her brain revealed that she had small optic nerves, she was evaluated by the ophthalmology department. Repeat visual evoked potential (VEP) testing produced normal results. Meanwhile, Katie was still having seizures every 19 minutes. She couldn’t talk and had trouble walking.
During the hospital stay, Dr. Koenig ordered a lumbar puncture that showed a low cerebrospinal fluid (CSF) glucose level. She had noticed something the other physicians had missed.
“There was clear evidence of complex I dysfunction in Katie’s muscle biopsy,” Dr. Koenig says. “I believed that this could be explained by a secondary defect of complex I involving the glucose transporter protein, which transports glucose into the CSF and into cells. Fortunately for Katie, a glucose transporter deficiency responds exceptionally well to a ketogenic diet in conjunction with alpha-lipoic acid supplementation.”
Katie’s seizures stopped and her language began to improve on the ketogenic diet and supplements. “Her neurologist in New Orleans was astounded by the improvement,” Keri says. “In two months, Katie has gained a year. She’s now talking in sentences. She no longer falls, she can run and jump and has great balance.
“A lot of things were missed with Katie,” she says. “If this had been diagnosed two years ago, we could have avoided a lot of pain and stress for our whole family. Finding Dr. Koenig was the best thing that could have happened to us. Katie is really alive for the first time in her life. She doesn’t have that dull look any longer. It’s just absolutely amazing.”