Vitamin B2, also known as riboflavin, plays a pivotal role in various essential bodily functions, including energy metabolism, cellular respiration, and antibody production. Surprisingly, it may have been a crucial factor in the remarkable recovery of a 1-year-old baby from California who was battling a rare and little-known condition called Mitchell Syndrome.
Mitchell Syndrome remains obscure to most due to its rarity within the realm of medical conditions. To put its infrequency into perspective, there have been only 20 documented cases of this genetic disorder since its formal identification in 2019.
Augustine, born on May 27th, 2022, was initially a healthy baby. However, at the tender age of three months, his life took an unexpected turn when he was hospitalized for hypoglycemia. In the ensuing months, his health underwent a steady decline. He began to experience hearing loss and encountered difficulties in his movements. Alarming signs emerged when, at the age of six months, he ceased eating altogether. Initially, healthcare professionals attributed his symptoms to teething, but a pivotal MRI scan unveiled a distressing deterioration in the protective myeline sheath surrounding nerve fibers in his brain – a condition known as demyelination.
Agonized by their son’s deteriorating health, Augustine’s parents, Kristen and Moses, relentlessly sought answers. Their tireless pursuit culminated in a crucial genetic test that disclosed a genetic mutation in a gene known as ACOX1, leading to the diagnosis of Mitchell Syndrome at the tender age of seven months.
This newly diagnosed neurological ailment is the result of an exceedingly rare genetic mutation that attacks the nerves responsible for hearing, movement, and vision. Augustine’s plight opened a window of hope when Kristen stumbled upon The Mitchell and Friends Foundation, established in the wake of the first documentary fatality from this disease in 2019 – a young boy named Mitchell Herndon.
Kristen said, “At the time, the hospital were only aware of three patients with the disorder, who had all passed away, that was incredibly hard to hear. It wasn’t until weeks later that I started asking more questions.”
This foundation maintained meticulous records of all 20 known patients, some of whom were still alive. Kristen was heartened to discover that vitamin B2 had exhibited positive effects in mitigating the most severe aspects of the disease. Armed with this newfound knowledge, Augustine’s journey toward recovery began.
“He can sit up, eat and crawl which doctors never expected him to do. But there’s no research so we don’t know what will happen—we have nobody to guide us because the condition is so rare,” said Kristen.
She explains, “Normally when people lose a skill like movement, it’s gone forever; nerve function goes, then eventually brain function. But that hasn’t happened for Augustine.”
In recent months, Augustine has shown remarkable progress. He has started babbling, crawling, and is attempting his first steps – a testament to his indomitable spirit. In May, he celebrated his first birthday, a momentous occasion for his loving family, marked by a heartfelt rendition of “Happy Birthday” in sign language.
In an inspiring display of dedication for Augustine, Kristen and her family have undertaken the endeavor of learning sign language, a skill they are actively passing on to Augustine’s journey, though filled with challenges, embodies the power of love, determination, and a chance discovery of the healing potential of vitamin B2 in the face of an exceptionally rare medical condition.
“He is so sweet, he is interested in everything he loves to explore and is very affectionate, he loves us to wrestle with him and he loves his sisters,” she adds. “He puts his hands on my throat to feel the vibrations when I talk.”
“We can’t predict the future but we have all the hope in the world he will do well and we have to have faith.”
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