Celia's Story

Born March 7, 2007, Celia appeared to be a healthy little girl – she developed normally beyond her first birthday, waving and saying “hi” and learning to use a fork and taking steps… but we noticed two years ago now, when Cel was about 15 months old, that her skills had plateaued, and that she was regressing. She stopped using any of the words she’d acquired; eventually she stopped trying to walk. Developmental Specialists at Nationwide Children’s Hospital ordered an MRI and found abnormalities in her brain, but no one could tell us why. Celia stopped sleeping well about that same time, waking 20 times or more each night. An EEG revealed myoclonic seizures (small single jerks, that we weren’t able to notice) were likely waking her. Celia lost the ability to feed herself and her vision became limited. We visited lots of specialists and Celia’s neurologist ordered lots of tests; after months of searching for a diagnosis, it was determined in January 2009, shortly before her second birthday, that Celia has NCL1 -- infantile neuronal ceriod lipofuscinosis, an autosomal recessive disorder more commonly known as Batten Disease. Afflicted children have an enzyme deficiency that causes neurodegeneration. Batten Disease is rare, about 2 in 100,000, and there are only about 150 children living with it in the US. Sadly, families may have more than one affected child. At this time NCL is always fatal, so we were relieved to learn that Celia’s little brother, Tucker, does not have Batten Disease. Children with the disease suffer mental impairment, worsening seizures, and progressive loss of vision and motor skills; most do not survive beyond their first decade. 
Celia takes lots of medicine, her food has to be pureed, and she is no longer able to drink even thickened liquids.  She used to enjoy Baby Einstein DVDs and Justin Roberts’ music, but those things don’t calm her the way they once did.  She still enjoys an occasional stroller ride around our neighborhood, and a dip in her grandparent’s hot tub once in awhile, but her favorite thing to do is to snuggle on someone’s lap and rest.  She lacks any purposeful movement, her fight to crawl now a distant memory, although we enjoy watching her stretch and yawn when she wakes up.  She sleeps much of the day, but she smiles a lot more, too. We cherish her, and the time we have left.
 
Jenni & Andy
updated 11.2010