Rosendo Stopped Smiling at Four Months
A chance encounter in California in June with a pediatric neurologist from The University of Texas Medical School at Houston (UT Medical School) turned into the miracle of a lifetime for Mayra 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 at The UT Medical School, Rivera shared the story of her son, Rosendo.
Rosendo 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 Rosendo 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 said. "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 said. 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 cited a New England Journal of Medicine article co-authored by Edward V. Quadros, Ph.D., associate professor of medicine and biochemistry at SUNY Downstate Medical Center, which reported that folate-receptor blocking antibodies prevent the transfer of folate from the blood to the cerebral spinal fluid and brain.
Dr. Koenig started Rosendo 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," said 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."
Meanwhile, Rivera continues to support parents of children with mitochondrial disease, caused by damage to the mitochondria – which are small, energy-producing structures that serve as cells' “power plants,” according to the National Institutes of Health. Nerve cells in the brain and muscles require a lot of energy and so are particularly damaged by mitochondrial disease. Many children with the condition do not live into adolescence. It affects 1 in 5,000 babies.
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 at The University of Texas Health Science Center at Houston.
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 said about Rosendo's 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.”
Rosendo 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 said. “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.”