Stonebridge Country Club, Goffstown New Hampshire

​Batten Disease

​My son has Batten disease also called Neuronal Ceroid Lipofuscinosis (NCL), which is a brutal and debilitating disease that attacks all functions of the body. Children diagnosed with this disease are missing a gene that is responsible for eliminating the build up of intracellular waste in the brain and central nervous system. Over time the buildup of lipofucins causes these affected cells to die. The death of these cells is devastating to the brain and body’s function as it causes seizures, blindness, dementia, immobility, and death in all affected children. The cruelest aspect is that these children were born with all of these functions intact and experience a rapid loss of function after a period of normal childhood development. Most children will die between the ages of 8 and 12 in the Late Infantile form, which Nicholas has. Nicholas will turn 10 in May 2013.

First described in 1826 – more than 170 years ago - Batten Disease (Neuronal Ceroid Lipofuscinoses), thought to be one of the most common neurodegenerative diseases, remains an unsolved mystery today…a puzzling disease that assures its victims of only one consistent manifestation…early death.

An inherited, degenerative neurological disease, - Batten may affect persons of any age, but primarily affects infants, toddlers and school age children, beginning unexpectedly and leading to a progressive loss of brain function that later destroys bodily functions, eventually leaving the victim totally helpless.

Whether in the case of infantile (Santavnori), late infantile (Jansky, Bielschowsky), juvenile (Batten, Spielmeyer, Sjogren), or adult type (Kuf, Parry), the early symptoms of Batten Diseaseare confusing ones. It strikes without warning, affecting vision and causing seizures or convulsions.

Possibly most frustrating of all is the fact that Batten Disease is rarely diagnosed immediately, often being mistaken for epilepsy or mental retardation, even schizophrenia. And once diagnosed, there is no satisfactory treatment and no cure. The clinical course of the disease includes a marked decline in cognitive function; personality and behavior changes; loss of communication and motor skills; poor circulation; decrease in muscle mass; hyperventilation; hallucinations, and, finally, deterioration to a vegetative state that ends in death.

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