Promoting The Progression of Awareness on Batten Disease aims to help contribute to awareness about Batten Disease and some of the organizations that tirelessly work for the cause of a cure or which support the families of those who suffer from this debilitating condition.

Here are some of the organizations we promote. If you are looking for a charitable cause, you could find no better way to contribute. Visit each of these at their respective sites to see donation opportunities:

batten org 1     batten org 2     Batten org 3     batten org 4

We also thank some of our business supporters including:

Advanced Skin Fitness Dallas Laser

What Is Batten Disease?

Medically speaking, Batten Disease is the juvenile form of a group of progressive neurological diseases called ‘neuronal ceroid lipofuscinoses’ (NCL). Characterized by the accumulation of lipopigment in the brain, as well as in non-neural tissue, these diseases may also be referred to as lipopigment storage disorders. Four main types of NCL, which differ in age onset and lipopigment accumulation, have been identified. These are:

Infantile (Santavuori disease): Onset before two years of age
Late-Infantile (Jansky-Bielschowsky): Onset before four years of age
Juvenile (Batten disease, Speilmeyer-Sjogren disease): Onset before eight years of age
Adult Form (Kuf disease, Parry disease): Onset before forty years of age

There are also several possible subtypes – protracted, atypical, and earlier or later onset which have similar clinical symptoms and may become apparent at different ages and progress at different rates. Ultimately, all forms are fatal. In the US, the incidence of all four types may be as high as two or three per 100,000 births.

Causes of Batten Disease
An inherited disorder of the nervous system, Batten Disease is an autosomal recessive disease…to be affected, a child must inherit two defective genes, one from each parent. If each parent carries the defective gene, chances are 1-in-4 that any child will be affected. Chances are 1-in-2 that any child will be a carrier capable of passing on the disease to his or her own children. The disease is generally found in children between six-months and ten years old.

Researchers suspect that Batten Disease, and other forms of NCL, are caused by missing enzymes resulting in the body’s inability to break down substances in the normal way…such as fat and associated sugars and proteins. It strikes brain cells, which naturally build up fatty substances, and inhibits the cells from cleansing themselves of these substances, ultimately forcing the cell to shut down. Scientists are searching to locate an enzyme or enzymes scarce or completely missing in children with the disorder. They have identified the enzymes for Infantile (CLN1) and Late Infantile (CLN2). The recent identification of the three related genes also opens up the possibility of gene replacement therapy or other gene-related treatments.

Disease Progression
Striking without warning, the first signs of Batten Disease may be visual impairment and seizures. As the disease progresses, visual impairment leads to blindness and the seizures become more frequent and intense. A child with Batten Disease will also have a marked decline in cognitive function, noticeable personality and behavioral changes, a loss of communication skills, a loss of motor skills, apparent spasticity, facial grimacing and abnormal body movements. Batten Disease leads to a vegetative state and is ultimately fatal.

Other symptoms or signs which may develop include slowing head growth in the infantile form, poor circulation in lower extremities with legs and feet often becoming cold and/or blue-red in color, decreased body fat and muscle mass, curvature of the spine, hyperventilation and/or breath-holding spells, teeth grinding, and constipation.