June 1-2 was Batten Disease Awareness Weekend 

17 year old Samantha Smith, daughter of Brenda Smith and Mike Smith both of Versailles was  diagnosed with Batten disease when she was only 1 ½ year old.  

Batten disease is named after the British pediatrician who first described it in 1903. Also known as Spielmeyer-Vogt-Sjogren-Batten disease, it is the most common form of a group of disorders called Neuronal Ceroid Lipofuscinoses (NCL). 

Although Batten disease is usually regarded as the Juvenile form of NCL, it has now become the term to encompass all forms of NCL. 

The forms of NCL are classified by age of onset and have the same basic cause, progression and outcome but are all genetically different, meaning each is the result of a different gene. Over time, affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually, children with Batten disease/NCL become blind, bedridden and unable to communicate, and, presently, it is always fatal. 

Batten disease/NCL is relatively rare, occurring in an estimated 2 to 4 of every 100,000 births in the United States, but no one really knows how many affected children there may be in North America or anywhere else in the world. The diseases have been identified worldwide. Although NCL’s are classified as rare diseases, they often strike more than one person in families that carry the defective gene.  Batten disease is not contagious but at this time it is not preventable. 

As yet, no specific treatment is known that can halt or reverse the symptoms of Batten disease/NCL. However, seizures can be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. At the same time, physical and occupational therapy may help patients retain function as long as possible. 

BDSRA helps scientists by fostering awareness, promoting more research, providing samples and information, and by funding research that is directed towards understanding all forms of Batten disease and development of therapies. 

Support and encouragement can help children and families cope with the profound disability and losses caused by NCL’s. The Batten Disease Support and Research Association enables affected children, adults and families to share common concerns and experiences. 

Meanwhile, scientists pursue medical research that will someday yield an effective treatment.  The hope of the future lies in research. Scientists need blood and tissue samples in order to develop cell lines for current and future investigations. Cell lines of persons with Batten disease and their families are grown and maintained in cell banks located at the Institute for Basic Research in Staten Island, NY, and at Massachusetts General Hospital in Boston. 

As everyone knows, scientific research of any kind is driven by funding. BDSRA provides funding to keep research moving forward. Financial assistance for scientific investigations into the cause and future treatment of Batten disease/NCL is always needed. Persons interested in aiding research may also contact Batten Disease Support and Research Association, 1175 Dublin Road, Columbus, OH  43215 (800) 448-4570 or mfrazier@bdsra.org.