Hi, My Name Is
Mitochondrial Depletion Syndrome
High School Team:
Lake Travis STEM Academy
Ava was born without complications and was developing on track. After 6 months, she started having trouble meeting her gross motor milestones and dealt with joint hypermobility, hypotonia, and sustained 3 fractures. She's had ongoing anemia that didn't respond well to treatment and resulted in multiple bone marrow biopsies. Given her falls and worsening core strength, lordosis, and other concerns, Ava had a muscle biopsy that led to her diagnosis of Mitochrondrial Depletion Syndrome at age 4. This diagnosis was able to explain many of her growing health concerns such as hydronephrosis, cyclic vomiting syndrome, and heart block. Despite these complications, Ava is a bright, sweet girl with a disposition full of sunshine and grace. She is incredibly loving, gives big hugs, and offers sweet words of encouragement to others. She loves to read, play games, and is in love with sheep. She is full of faith and enjoys dancing and playing with friends.