This weekend is International Batten Disease Awareness Weekend, an event intended to unite people worldwide to pursue the common goal of raising awareness and understanding of this rare genetic disease, while also enhancing fundraising activities and providing hope to children and families living with Batten.
Batten disease belongs to a group of neurodegenerative disorders called neuronal ceroid lipofuscinoses (NCLs). Although Batten disease was a name first used to describe the juvenile form of NCL, it has now become a generic term to encompass all forms of these diseases. Batten disease is rare, estimated to occur in two to four of every 100,000 live births in the United States. It leads to the buildup of substances consisting of fat and proteins called lipofuscin in the cells of the brain and eye as well as in skin, muscles, and other tissues.
In the juvenile form, early symptoms of the disorder usually appear between ages four and ten, with gradual onset of vision problems or seizures. Early signs may be subtle personality and behavior changes, slow learning or regression, repetitive speech, clumsiness, or stumbling. Over time, the affected children suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Batten disease is always fatal, with death usually in the late teens or early twenties. As yet, there is no specific treatment that can halt or reverse its symptoms.
The promoters of this initiative, the Batten Disease Support and Research Association – BDSRA – have set up a Facebook group and are encouraging its members to take action.
“In order to find and fund the cure, we simply have to broaden our horizons and get more interest in helping these children,” said Adina Ryan, the BDSR Director of Development.
Sources: About.com, Batten Disease Support and Research Association, Wikipedia
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