ST LOUIS – Brown-Violetto von Laere Syndrome is a neurological disease that causes vision or hearing loss and muscular weakness. The condition is progressive and sometimes fatal.
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 kinda hard to walk and I tripped a lot," remembered Ruby.
Ruby also started to lose vision. Her parents noticed the initial signs in first grade.
"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," said her father Andrew.
Ruby`s eyesight was rapidly fading. No one could tell the Bonds why she was going downhill so fast.
Brown Violetto Von Laere Syndrome.
With B-V-V-L, 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," said Dr. Golumbek.
Dr. Golumbek's suggestion, over-the-counter supplements, including B-2 vitamin or riboflavin.
"He said go buy riboflavin and start it now," recalled Ruby's mother, Joy.
Ruby takes 1500 milligrams a day, 50 times the amount recommended for adults with a B-2 deficiency.
"You can take a super high dose of this and it's easy to flush out of your body," said Dr. Golumbek. "You won`t overdose on it."
Within a few months, Ruby`s vision began to improve.
"I can see signs," she says. "I can see small print."
"Over that six months on my bedside it went from 20/100 to 2/20, which is amazing," says Dr. Golumbek.
"The way that Ruby has bounced back we are pretty hopeful that it is working for her," says 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.
The B2 supplement can be given orally or intravenously. It can be found in foods such as eggs, green vegetables, milk, and meat, but for those with a riboflavin transporter deficiency, they will need to take it as a supplement because they cannot get enough from simply eating certain foods.
INHERITANCE: Brown-Violetto Von Laere syndrome usually follows an autosomal recessive pattern of inheritance, where you inherit two mutated genes, one from each parent. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. BVVL requires two mutated copies of the genes for the disease to develop.
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