Mabel 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.
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 has the earliest and most severe form.
Her diagnosis is terminal.
Her prognosis: 4-6 years of age.
After months of testing and living in the world of unknowns, we finally found our answer in a rare, inherited disease.
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 has the earliest and most severe form.
Her diagnosis is terminal.
Her prognosis: 4-6 years of age.
After months of testing and living in the world of unknowns, we finally found our answer in a rare, inherited disease.
This gift that God has given us is precious. She is darling and tiny. She loves to be rocked and smiles at nothing. She is genuine, pure and loves music.
