Help with Rare Disease Diagnosis
PJ Family, For the past year, my family has been working with doctors to understand our daughter's (Maya) "balance issues". This past spring, Maya received a diagnosis of Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) aka TPP1 Deficiency. Maya is the 8th reported case in the world. At this stage we are trying to find…