About the Disease
- Battens Disease is a very rare & fatal degenerative neurological-muscular disease that afflicts mostly children. There are only 200 known cases in North America. We have been told we are the 48th family in all of Canada to have ever had this diagnosis. To date, there is no known cure. There are basically four types of Battens Disease: Infantile, Late Infantile, Juvenile, & Adults. Depending on the age of symptom onset, basically places a person on that type or rather form of Battens. More detailed testing such as invasive muscle biopsy's and most recently discovered non-invasive DNA testing on blood sampling can determine the disease's form and tell whether certain family members are carriers. To date, Massachusetts General Hospital for DNA genetic testing is the only place to correctly test for the different forms of Battens Disease, Basically, this means that both the parents carry the defective gene Finding another person that is a carrier of the disease is very rare. One out of every four children born from a genetically defective couple will inherit and be afflicted with this disease, and two out of the four children will be carriers of the gene and not be afflicted, and only one child will possibly be non afflicted and be a non carrier of the defective gene.
- Late Infantile Batten Disease is a fatal, inherited enzyme deficient autosomal recessive genetic disorder grouped in the family of neuronal ceroid lipofuscinoses disorders ( or NCLs). Children missing the enzyme (TPP1), over time suffer mental impairment, worsening seizures, and progressive loss of sight and motor skills. Eventually the child will become blind, bedridden, and be unable to communicate. Currently, the disease is always fatal, with life expectancy around ten years of age. The missing enzyme is highly diffusable and has cross correcting properties allowing up-take from by-stander cells. L1NCL is a true enzyme deficient disorder.
