Brown-Violetto-Von Laere syndrome (BVVL) is a neurological disease that causes vision or hearing loss as well as muscular weakness.
The condition is progressive, even sometimes fatal.
Now, one 7-year-old girl with the disease is still alive thanks to a determined doctor and over-the-counter supplements.
For Ruby Bond, game time with her little brother and dad used to be tricky. The 7-year-old had been losing control of her hands, her arms, and her legs.
Ruby said, “It was kind of hard to walk and I tripped a lot.”
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, a pediatric neurologist at Washington University in St. Louis, was the first to diagnose Ruby with a genetic condition he had only read about.
Dr. Golumbek said, “It’s called Brown-Violetto-Von Laere syndrome.”
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,” added Dr. Golumbek.
Dr. Golumbek suggested over-the-counter supplements, including B2 vitamin, or riboflavin.
Joy Raccagno-Bond, Ruby’s mother, said, “He said, 'Go buy riboflavin and start it now.'”
Ruby takes 1,500 milligrams a day - 50 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.
Ruby said, “I can see signs. I can see small print.”
“Over that six months on my bedside it went from 20/100 to 20/20," said Dr. Golumbek. "Which is amazing.”
Joy said, “The way that Ruby has bounced back - we are pretty hopeful that it is working for her.”
Ruby has regained some of her arm and leg strength, although she still has trouble extending her thumbs.
Her brother, Elio, also has BVVL and takes the vitamin in lower doses.
TOPIC: RIBOFLAVIN AND A SMART DOCTOR SAVE RUBY!
REPORT: MB #4237
BACKGROUND: Brown-Violetto-Von Laere syndrome (BVVL) is a rare neurodegenerative disease, also known as riboflavin transporter deficiency. It is caused by mutations in the genes and the body cannot transport riboflavin (a vitamin also called B2 that is found in food and used as a dietary supplement) to essential parts of the body. It often begins during infancy with the first symptom being breathing problems, which can be life threatening. Other signs and symptoms include vocal cord paralysis, droopy eyelids, facial weakness, slurred speech, difficulty swallowing, visual problems, autonomic dysfunction, breathing difficulties, and weakness of the neck, shoulder, and limbs. Untreated, it can be fatal. It is difficult to diagnose because of its rarity and doctors will need to look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. (Source: https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency)
TREATMENT: While there is no certain effective treatment for BVVL, there have been reports of stabilization or reversal of degeneration with the use of the B2 vitamin. It does not work for all patients, but for some it could make all the difference. Riboflavin supplementation should be started immediately as soon as it is suspected that a patient has BVVL because those who are treated earlier show more improvement. 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.
(Sources: https://ods.od.nih.gov/factsheets/Riboflavin-HealthProfessional/ & http://www.bvvlinternational.org/b2-therapy-protocol.html)
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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