The story of Tracy
At the age of 5 we discovered that there was something different about the way Josie would walk or how she annunciated her words. Teachers began calling saying she would go to stand from her desk & that her legs would spaghetti, sometimes even leading to her falling. We discussed this with her pediatrician. Time and time again we were told that she would grow out of it. Finally we were referred to a neurologist in 2009, 4 years later. Nothing showed on any of her test & we were once again told, she will grow out of it, she’s just clumsy. Several visits with specialists, over and over the same result. I decided that I would take her back to the original Neurologist in 2015 and demand that they test until there is no more testing to be done. A repeat MRI was performed & this time it showed she cerebellar vermis volume loss. This flagged him to do further testing. He ordered a SCA (spinocerebellar ataxia panel), nothing; completely normal. The next step was a whole exome chromosome panel. We have answers, autosomal recessive spastic ataxia of Charlevoix Saguenay. Unfortunately, even with answers we don’t know which direction to turn. There are no treatments for this condition, there is no cure & honestly, not a whole lot of understanding within the United States about it. Treat the symptoms that come along with the disease. Otherwise, pray daily and hope that somewhere sometime a cure will be found. Josie will be 16 this year. She doesn’t let her condition stop her. There are good days with her balance and there are bad. Kids make fun of her speech, the way she walks, etc. But her philosophy, if I am alive it is a good day. This disease might put me in a wheelchair but it won’t dampen my spirit.