She was born in the middle of summer heat with the darkest head of hair you have ever seen. She was tiny and barely cried.
Mabel was diagnosed with Neuronal Ceroid Lipofucsinosis or 'NCL' 2 days after her 2nd birthday.
Mabel was diagnosed with Neuronal Ceroid Lipofucsinosis or 'NCL' 2 days after her 2nd birthday.
NCL's are a group of inherited, neurodegenerative, lysosomal-storage disorders characterized by progressive intellectual and motor deterioration, seizures, and early death. Visual loss is a feature of most forms. There is no treatment and no cure. Mabel had the earliest and most severe form.
My darling girl never met a typical milestone. She could not see, eat, sit, roll over, crawl, or walk. She could however smile and responded to our voices by giggling and grunting. She spent many days [and ultimately years] of her life suffering; crying, seizing and body jerking. There was very little relief from her disease.
Her diagnosis was terminal.
Her prognosis: 4-6 years of age.
Mabel left my arms for Heaven on May 29, 2015 just before her 5th birthday.
This gift that God gave us is precious.
Everyone who knew Mabel was perplexed by her and yet she brought such complete joy. She was the greatest gift to our lives.
For questions about Mabel's symptoms, diagnosis, or batten disease please feel free to email me: rameelin@hotmail.com
Also visit www.bdsra.org for more information.
For questions about Mabel's symptoms, diagnosis, or batten disease please feel free to email me: rameelin@hotmail.com
Also visit www.bdsra.org for more information.