A chance encounter in California last June with a pediatric neurologist from the Medical School turned into the miracle of a lifetime for Mayra Rivera of McAllen.
While sitting at a lunch table at the United Mitochondrial Disease Foundation (UMDF) conference with Mary Kay Koenig, M.D., assistant professor of child and adolescent neurology, Rivera shared the story of her son, Rosendo Robles.
Robles had developed normally until he was four months old, when he quit smiling. By the time he was 33 months old, he was not able to walk, talk, swallow, or control his eye movements, making it difficult for him to see. He had daily seizures and constant vomiting, despite surgery on his esophagus and stomach. He was placed on a feeding tube and his mom fought for every pound he gained.
Dr. Koenig, director of the UT Medical School’s Neurometabolic and Mitochondrial Clinic, realized that Robles had never had a lumbar puncture to check for potentially treatable metabolic diseases that affect the central nervous system.
“There’s a certain set of things you want to look for that are treatable, and you want to make sure those are ruled out before you diagnose a child with a mitochondrial disease,” Dr. Koenig says. “Rosendo hadn’t had a lumbar puncture to check chemicals in the brain and spinal fluid. It’s a standard process for us when a child is this delayed without a clear cause.”
The lumbar puncture was performed at Children’s Memorial Hermann Hospital, where Dr. Koenig is a pediatric neurologist. On Aug. 28, Dr. Koenig called Rivera with the results that would change her family’s life for the better.
Rosendo has idiopathic cerebral folate deficiency, an extremely rare condition with similar symptoms to mitochondrial disease. But cerebral folate deficiency is treatable. In fact, if caught before a child is 3 years old, there is a good chance that the patient will have a normal life. Rosendo turns 3 years old Nov. 12.
Folate is needed for almost every chemical reaction in the body, including brain formation, Dr. Koenig says. Without it, myelin (the substance that forms around nerve fibers) never develops, so the brain cannot tell muscles what to do and development is arrested.
Dr. Koenig started Robles on daily oral doses of folinic acid on Sept. 1. Already he is smiling, babbling, and tolerating his food better, his mom reports. His muscle strength is improving and he has been able to sit up by himself for short periods of time. In the first seven weeks of treatment, he gained three pounds and grew two inches. The seizures have disappeared.
“Before he was diagnosed with the folate deficiency, it was hard for me to get out of bed in the morning,” says Rivera, a high school speech teacher who had to stop working in order to care of her ailing son. “Now I wake up and I wonder what he’s going to do next. This changes everything. You look at life differently.”
Dr. Koenig, who serves on the board of the Houston chapter of the UMDF, is conducting research into the slowing of mitochondrial disease through dietary changes with funding from the Center for Clinical and Translational Sciences.
Folate deficiency is much rarer than mitochondrial disease, having been diagnosed in only about 100 children worldwide.
“There’s every reason to be hopeful,” Dr. Koenig says about Robles’ future. “I expect him to be able to walk and talk and feed himself and take care of himself. His mom saved his life. I can’t wait to see him.”
Robles will return for a follow-up appointment and lumbar puncture at Children’s Memorial Hermann Hospital to see how much folate has entered Rosendo’s cerebral spinal fluid and make any needed medication adjustments.
“He has a college account. We never gave that up,” Rivera says. “And I had a hospital crib, but I never set it up. In the back of my head, I had this dream of him running.”
For more information, or to refer a patient or make an appointment, call 1.877.4UT.DOCS (1.877.488.3627).
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