Nicolas is a 4 year old boy. He loves to play with his toys especially cars, trucks and trains. His huge smiles and contagious laughter can melt your heart. He has eyes that can make your heart stop and the longest lashes you’ve ever seen although there is so much more to him than meets the eye. He’s always looking to hug and kiss everyone and loves to be the center of attention and make everyone laugh. He is the sweetest little boy we know although he has already gone through so much in his life. He is the one that keeps us going strong every day.
Sadly, Nicolas has been diagnosed with Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL) or more commonly known as Batten’s Disease. Batten’s disease is a fatal childhood neurodegenerative lysosomal storage disease with no known therapy. There are estimated to be 200 to 300 children in the USA at any one time with the disease. Early symptoms include seizures, clumsiness or vision loss. LINCL is a genetic disease resulting from mutations in the CLN2 gene. The CLN2 gene encodes a protein tripeptidyl peptidase-I (TPP-I) which is absent/deficient in children with LINCL. This absence/deficiency of TPP-I results in lysosomal storage and subsequent cell death (especially neurons). The children with LINCL are chronically ill, with a progressive CNS disorder that invariably results in death, typically by age 8 to 12.
We need your help to fund research to find a cure for this horrible disease. Please click on the donate button if you wish to make a donation.