A California baby has reportedly recovered from the rare Mitchell Syndrome after being given vitamin B2.
According to the Good News Network, Augustine was one of nearly two dozen people in the world with the rare genetic disease. Mitchell Syndrome was newly named by scientists in 2019 just a few years before he was born in May of 2022.
By the time he was 3 months old, Augustine had to be hospitalized for hypoglycemia.
He started to have trouble moving and hearing. At 6 months old, he would no longer eat.
Doctors conducted an MRI scan and found that the protective covering of nerve fibers in his brain were experiencing a form of damage known as demyelination.
His parents “begged” for more genetic testing which revealed an ACOX1 gene mutation which led to the Mitchell Syndrome diagnosis when Augustine was 7 months old.
“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,” his mother Kristin said.
“It wasn’t until weeks later that I started asking more questions,” she added.
Kristin then found the Mitchell and Friends Foundation. Within their records, they noted that vitamin B2 had aided current living patients in combating the worst symptoms.
Augustine’s parents tried giving him B2 and his mother noted its effects, saying, “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,” she added.
Augustine celebrated his first birthday in May and is continuing to thrive.
His mother noted, “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.”
“We can’t predict the future but we have all the hope in the world that he will do well and we have to have faith.”
The outlet only provided the first names of family members.
