Folic Acid Saves Baby's Life

Folic Acid Saves Baby's Life
Deficiency in Common Food Supplement Could Have Killed an Infant
http://abcnews.go.com/GMA/OnCall/Story?id=4173835&page=1



Cute and healthy, Rosendo Rivera was everything his mother dreamed of.
"He slept, he ate, he gained a lot of weight; he was fine, everything was perfect," says his mother, Mayra Rivera.

But when he was 4 months old, Rosendo's mom got an inkling that something was wrong. First his eyes started to cross -- that was just the beginning.

"He went from laughing, rolling to completely being a baby who couldn't hold his head up. He stopped laughing, rolling, babbling. I said this is like a bad dream. I can't believe this is happening," said Mayra.

Doctors were stumped. Rosendo continued to deteriorate and had up to 60 seizures a day. He was diagnosed with everything from mental retardation to cerebral palsy, and then, something worse: mitochondrial disease, a condition in which the body can't produce energy.

His prognosis: He wouldn't live past his teens.

"I was devastated. I was watching my son deteriorate before my eyes, and there was nothing I could do for him. This cannot be my life, this cannot be my son's life. I was waiting for God to give us a miracle," says Mayra.
By chance, she met Dr. Mary Kay Koenig, who believed Rosendo may have been misdiagnosed, and Mayra got the miracle she had been dreaming of.

"I realized that although he had been tested for a majority of conditions that can cause his symptoms, he had not been tested for cerebral folate deficiency," says Koenig.

In folate deficiency, the body is unable to transport the vitamin folic acid to the brain, resulting in seizures, mobility problems and blindness. Fortunately though, this disease is 100 percent treatable in toddlers with a simple supplement.

In August, Mayra got the news: Rosendo had folate deficiency.
"I was so happy I was crying. I was like, thank you God, my prayers are answered. I knew it was a miracle," says Mayra.

Not only was he not going to die, but he could actually recover. Rosendo has been taking the supplements for four months now, and he has made remarkable strides.

"He's sleeping better, he's babbling, he's making new sounds, he's sitting down for longer periods of time. It's really exciting. It may be little for some people but really exciting for us. It's big,"says Mayra.

Bright Future
Dr. Pamela Blake joined "Good Morning America" today to share the latest details of Rosendo's recovery.

"He's gaining ground very quickly from all of the delays that he had. He is doing very well. He's had a great return of his visual function. His motor function is better, he is starting to talk, he can say "Momma," which he could not do before," says Blake.

Nowadays Mayra even has reason to hope that Rosendo might be able to live a normal life.

"Fortunately, because he was diagnosed properly and treated before the age of 3, the expectation is that he will do very well and hopefully should have a full recovery," says Blake.
Age 3 is turning point, because before that brain development is very precious and any deprivation of sensation can cause life-long damage.
"Folic acid is transported by a different receptor, a different protein taken into the brain and he has no problems with that receptor, so it's very simple," says Blake.

What makes it even better is that it's about as easy as it gets to administer. Rosendo takes just one tablet a day now. He'll have to for the rest of his life, but doctors say now that his life should be a long and healthy one.