Harper Braud is a sweet 7.5 year old girl who was diagnosed with Leigh syndrome in November 2018 after months of testing.

Her journey started in July 2018 when she randomly started walking on her toes and posturing.  After a few weeks in Occupational Therapy focusing on her feet and leg muscles (which she had been attending since age two for other things), her therapist suggested it might be something neurological.  The family made an appointment with Harper’s PCP who told them that Harper needed a magnetic resonance image (MRI) immediately. 

Within a few days Harper underwent a MRI and doctors discovered a lesion in her basal ganglia, the area of the brain that controls movement and memory.  That’s when the pieces started to fall into place according to Emily, Harper’s Mom.  

In October when Harper’s mito panel came back it confirmed what the neurologist suspected – Leigh syndrome.  Since her specific case comes from Emily’s DNA, Emily and Harper’s brother Madden were also tested and the results came back as positive for Leigh syndrome.

Harper has since started physical therapy, occupational therapy, speech therapy (on and off), gymnastics for special needs and equestrian therapy.  The family also participated in the National Institutes of Health Metabolism, Infection and Immunity (Mini) Study, but that has since been put on hold due to the pandemic. 

Harper just received her third pair of Ankle Foot Orthosis (AFOs) that she designed using palm trees, and she loves using her purple walker to help with her posture and help preserve her energy at school.  She is 100 percent a girly girl and enjoys having her hair fixed, playing with makeup and getting dressed up.  

“Harper is such a sweet and caring person,” said Emily.  “She is very intuitive and can always tell when Mommy is having a hard day.  She cures my blues with her magic hugs.” 

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