The story of Tatiana
My niece, Lizawieta Krauchun (Liz for short), is a one-of-a-kind twelve-year-old girl. She is cute, smart, benevolent, tender and kind-hearted. She is wise enough for her age and has a smile that brightens up whatever space she occupies.
But what makes Liz one-of-a-kind is her diagnosis… She suffers from Neurodegeneration with Brain Iron Accumulation (NBIA), namely Mitochondrial-membrane Protein-Associated Neurodegeneration (MPAN), an extremely rare genetic neurological devastating disorder. MPAN proceeds slowly but terribly.
Onset occurs in childhood to early adulthood with spasticity that is more prominent than dystonia, weakness in muscles caused by motor axonal neuropathy, optic atrophy and final vision loss, and neuropsychiatric (mental disorder due to disease of the nervous system) changes. Most affected individuals are still able to walk as they reach adulthood. Psychiatric signs are common, including impulsive or compulsive behavior, depression and frequent mood changes. The vast majority of individuals with MPAN develop progressive cognitive decline as well.
Despite this, Liz and her family will never give up hope that a cure for this rare disease will be found in her lifetime and she will be one of those who will get over the disease one day.