You may remember in my post about Ralph's World I mentioned a benefit concert Ralph was doing to support Jasper Against Batten. I wanted to follow up on that post by learning a little more about Batten Disease, and thought I'd share what I learned with you. Batten Disease is named for Dr. Frederick Batten who first described the juvenile form of this disease in 1903, formally known as Neuronal Ceroid Lipofuscinosis (NCL). There are actually four types of Batten Disease, differentiated primarily by the age of onset. In all cases NCL or Batten Disease has a root cause in a genetic mutation that leads to inefficient waste removal from neurons (nerve cells) in the brain. As the waste builds up the neurons begin to fail leading to seizures and progressive loss of sight, motor skills, and cognitive abilities. Eventually all forms of the disease are fatal. The earlier degeneration begins the shorter the expected life span. So in Infantile NCL which begins between ages six months to two years, the child will usually not survive beyond early childhood. Meanwhile, adult onset NCL, which is extremely rare, begins before age 40 and results in a somewhat shortened lifespan. Late Infantile Batten begins between ages 2-4 years; Juvenile Batten begins between the ages of 5-8. All forms of the disease are rare because in order to contract the disease a child must inherit two recessive genes, one from each parent. Each offspring of such a couple has a 1:4 chance of contracting the disease and a 1:2 chance of becoming a carrier (having one copy of the recessive gene).
In short, this is one of those devastating diseases that is hidden in the maze of our DNA, is not evident prenatally, is degenerative, fatal, and rare. The intersection of these characteristics results in an "orphan" disease, meaning there is little research into the cause, possible treatments or final cure. Big pharmaceutical companies, sadly but understandably, put their efforts toward diseases that have big markets: diabetes, cholesterol, cancer, and the like. That leaves smaller laboratories, usually government agencies or academic institutions to pursue evils like Batten.
The family that started Jasper Against Batten are real heroes in this fight. Their son, Jasper, has Late Infantile Batten, and aside from the energy they have put into their own personal fight, they started a foundation to raise money to support research of treatments for all forms of NCL. Their story reminds me of the Lorenzo's Oil story and again why we should advocate and that each life is sacred and powerful.