Brown- Violetto- Von Laere Syndrome (BVVL) is a neurological disease that causes vision or hearing loss and muscular weakness. The condition is progressive, and sometimes fatal. Here are the details of a seven-year-old girl with the disease, one determined doctor, and the over-the-counter supplement that is making all the difference.
For Ruby Bond, game time with her little brother and dad used to be tricky. The seven-year-old had been losing control of her hands, her arms, and her legs.
“It was kind of hard to walk and I tripped a lot,” Ruby said.
Ruby also started to lose vision. Her parents noticed the first signs in first grade.
Andrew Bond, Ruby’s father said, “She walked out of school one time, and instead of walking up to me, walked up to a gentleman who was standing a few feet away from me.”
Ruby’s eyesight was rapidly fading. No one could tell the Bonds why she was going downhill so fast. Paul Golumbek, M.D., Ph.D., is a pediatric neurologist at Washington University in St. Louis. He was the first to diagnose Ruby with a genetic condition he had only read about.
“It’s called Brown -Violetto -Von Laere Syndrome,” detailed Dr. Golumbek.
With BVVL, the body can’t transport riboflavin into the brain or the nerves in the eyes, ears, or limbs.
“Without that vitamin the nerves will actually die and be lost,” explained Dr. Golumbek.
Dr. Golumbek’s suggestion: over-the-counter supplements, including B2 vitamin, or riboflavin.
“He said go buy riboflavin and start it now,” said Joy Raccagno-Bond, Ruby’s mother.
Ruby takes 1,500 milligrams a day, fifty times the amount recommended for adults with a B2 deficiency.
Dr. Golumbek said, “You can take a super high dose of this and it’s easy to flush out of your body. You won’t overdose on it.”
Within a few months, Ruby’s vision began to improve.
“I can see signs,” said Ruby. “I can see small print.”
“Over that six months on my bedside it went from 20/100 to 20/20, which is amazing,” detailed Dr. Golumbek.
“The way that Ruby has bounced back, we are pretty hopeful that it is working for her,” said Joy.
Ruby has regained some of her arm and leg strength, although she does still have trouble extending her thumbs. Her brother Elio also has BVVL and takes the vitamin in lower doses.