BUT there is HOPE! Researchers are working toward developing advancements for NCL.
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Happiness abounds as Garrett Midleton Coyne enters the world April 27th, 2010, in Phoenixville, PA. A precious and adorable first baby for Mommy and Daddy, Nancy and Joe.
He goes from infant to toddler to pre-schooler normally developed, meeting all his milestones. His only observable problems seem to be trouble sleeping and a speech delay. Garrett brings endless smiles to all who meet him. In the Autumn of 2013 concerns about Garrett’s vision begin. It is observed that Garrett seems to have ‘night blindness’ and peripheral sight issues.These concerns take him to Wills Eye Hospital, Philadelphia, where he is examined, has eye testing done and blood is sent to genetic laboratories for analysis.
September 5th 2014, the worst news ever given was learning Garrett’s diagnosis. Garrett has Neuronal Ceroid Lipofuscinosis, NCL, often called Batten Disease.
His disease form is Infantile, INCL/CLN1.
Currently, Garrett is legally blind, unable to walk, talk, toliet himself and has seizures. The road ahead is frightening, knowing the catastrophic reality. Although his health continues to decline he still shows those bright eyes and beautiful smile!
Batten Disease currently has no treatment, no cure, and is not preventable. The disease causes toxicity within specific cells found in the brain, retina and central nervous system.Children are generally born healthy and grow normally until one day the progression of Batten Disease shows its colors. Initial symptoms are usually seizures, vision deterioration or loss of intellectual function. Those affected suffer progressive neurological impairment. Eventually, they are bedridden and lose all skills. Children become completely dependent, unable to feed themselves or communicate. Due to its progressive prognosis, all Batten sufferers ultimately require 24 hour care. Death for the INCL type usually occurs in early to mid-childhood.
Gaining Knowledge, the Science Behind this Terrible Disease
Batten Disease or Neuronal Ceroid Lipofuscinosis (NCL) is a genetic inherited disease in children and adults. There are 14 different types of NCL. Garrett has type 1 also known as infantile or CLN1. Symptoms of the disease may take years to surface. This disease is a lysosomal storage disorders (LSD), meaning that genetic mutations disrupt the cells ability to dispose of wastes. In Batten Disease, cells are thrown out of balance with the build-up of proteins and lipids (fats). These damaged cells cause progressive neurologic impairment. Common symptoms are seizures, visual problems/blindness, personality and behavior changes, dementia, loss of the ability to walk and talk. Batten Disease always leads to any early death. Often diagnosis takes years to obtain. The gene called CLN1 lies on chromosome 1. CLN1 disease is inherited as an autosomal recessive disorder, which means that both parents carry mutations in the CLN1 gene, and both parents are unaffected carriers. Most parents have no idea they are carriers until their child is diagnosed. Every pregnancy for these parents has a 1 in 4 chance of having an affected child. CLN1 normally directs production of a lysosomal enzyme called Palmitoyl protein thioesterase 1 or PPT1. A deficiency of PPT1 results in abnormal storage of proteins and lipids in neurons and other cells and impaired cellular function. The cells cannot function as they should and symptoms develop. The gene was discovered in 1995.The diagnosis is made by enzyme (PPT1) and genetic (CLN1) tests on blood samples. Results from this test takes weeks.