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 last summer, when Cel was about 15 months old, that her skills had plateaued, and by fall 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) that 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 new little brother 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. These days it’s hard for us to find ways to keep Celia content. She’s often agitated, and whimpers or fusses, but we’re not sure what hurts. She takes lots of medicine now, and her food has to be minced and her liquids thickened. She used to enjoy Baby Einstein DVDs and Justin Roberts’ music, but those things don’t calm her the way they 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. One of her least favorite things to do is get dressed; she resists her arms being pulled through sleeves, so she often spends the day in her jammies. And she tries so hard to keep moving. She stretches when she wakes up in the morning, and she wants so much to crawl – she shows a hint of a smile when we help her stand so she can bear some weight on her own two feet. If you lay her on her back, Celia rolls over as fast as she can, and starts pushing up with her arms; she doesn’t have much strength left, so she falls down frequently, but she pushes up again and again. She attempts no fewer than a dozen sit ups during every diaper change! Perseverance is just one of the things that Celia has taught our family about.
Jenni & Andy