BVVL International was created in June 2008, and is the first web-based resource tool for physicians, researchers, and families interested in learning more about Brown-Vialetto-Van Laere syndrome. Brown-Vialetto-Van Laere syndrome (BVVL), sometimes referred to as “bulbar palsy,” is a rare, neurodegenerative motor neuron disorder, mainly affecting children. The disease causes a host of cranial nerve deficits including loss of the ability to speak, hear, swallow, and even breathe.
On March 4th, 2010, the first article outlining a BVVL gene was published. Since that time, other genes have been discovered that elucidate this disease as a riboflavin transporter gene mutation. See the BVVL Research Highlights page for more information.
On November 26th, 2010, an article outlining a potential therapy for BVVL was published. Researchers continue to study intravenous B2 (riboflavin) therapy, which is effective for some patients. See the BVVL Research Highlights page for more information.
BVVL International is a resource for anyone interested in learning more about the disease and includes the following:
BVVL International is a project of the Thisbe and Noah Scott Foundation.
- Summary information from case reports of individuals with BVVL in the medical literature
- Current research underway towards finding other potential genetic mechanisms responsible for the disease
- Resource for ongoing research for treatments for the disease
- A way to connect with others involved in similar research so that they can share ideas and hasten their progress towards curing other pediatric neuromuscular diseases
- How to get involved in advocacy efforts to increase research and funding for BVVL and other rare genetic diseases
- Opportunities to contribute monetarily to ongoing research on BVVL and other pediatric neuromuscular diseases
Both got their start in 2008, by John and Laurian Scott, who lost their two children, Thisbe and Noah, to this devastating disease. The Scotts have worked with researchers across the world to find the gene that causes BVVL in the hopes to find a cure, so that no child or family will ever suffer the way that they have, and continue to, every single day.
As therapeutic progress continues for BVVL, the Scotts have expanded their mission to encompass all pediatric neuromuscular diseases. Find out more at http://www.thisbeandnoah.org/