Connect with other BVVL and Fazio-Londe families:
SMASpace is an online connection tool with a BVVL Group. Go to www.smaspace.com, become a member, and click on "Groups." If the "BVVL/Fazio Londe" Group doesn't show up immediately, then click on "Show All." Join that group, and begin a discussion with another parent going through something similar. Or, become friends with other SMA families, as everyone on this site is looking to connect with other people whose children are suffering through motor neuron diseases.
Regain the Ability to Communicate with your Child:
The Thisbe and Noah Scott Foundation outreach is loaning out Ipads with a specially designed App to help children with neuromuscular diseases regain their "voices." As degeneration progresses, so does a child's ability to communicate. Contact the Executive Director, Lindsay Ballew, for more information on this program: firstname.lastname@example.org.
Read Articles in the BVVL Patient Library:
BVVL International has a collection of published articles on BVVL and Fazio Londe. Most of these are only available through online purchase or through a subscription to the publication journal; however, researchers have been kind enough to provide our organization with these articles to offer as resources to patients and their families.
For BVVL genetic testing on C20orf54, please visit http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests, under BVVLS, where the details of the lab and services they offer can be found.
For further information and instruction on the informal study of Riboflavin therapy, please contact one of the authors, Dr. Bosch, at the University of Amsterdam at email@example.com.
The Motor Neuron Center is the first initiative of the Columbia University Center for Neurosciences Initiative (CNI) in New York, dedicated to bringing researchers together to find the mechanisms responsible for pediatric and adult motor neuron diseases. www.columbiamnc.org
The Office of Rare Diseases (ORD) at the National Institutes of Health (NIH) provides information about rare diseases to health care professionals, patients and families, and helps to coordinate research.
The Genetic and Rare Diseases Information Center (GARD) provides information for the general public, including patients and their families, health care professionals and biomedical researchers. It was established by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases (ORD).
The Thisbe and Noah Scott Foundation shares the personal story of the Scott family, who lost two children to Brown-Vialetto-Van Laere, and their ongoing search for a cure.
The Scott family founded ETS Publishing, which is scheduled to launch its first children’s picture book, Thisbe’s Promise, in the fall of 2008, to honor their daughter, Thisbe, as well as to provide a resource for parents and children struggling for hope and promise in the midst of a profound illness.
Genetic Alliance provides a comprehensive rare disease database and list of relevant associations/organizations for patients and their families, as well as advocacy tools to promote research for genetic diseases.