Anna Grace McMullen is a beautiful five year old little girl, who has been diagnosed with Leigh's Syndrome.
It all started when Anna Grace was around 4-6 months. We noticed that she was not meeting developmental milestones as was her twin brother, Palmer. At that time doctors were not too concerned--just thinking she was delayed. Anna Grace started physical and occupational therapy.
At 9 months, it was recommended that we take Anna Grace to a neurologist, since she did not have full head control. A MRI was conducted and found abnormal areas of increased T2 weighted signal in the posterior regions of the basal ganglia structures. This is where our path down the "mito" road started.
Mitochondrial disease specialists in Cleveland, OH and Atlanta, GA have since seen Anna Grace. A muscle biopsy was done in December 2001 and results indicated Leigh's Syndrome. Oxidative phosphorylation defects in muscle and her previous MRI results supported the diagnosis of Leigh's Syndrome.
Anna Grace cannot talk or walk. She communicates with facial expressions, verbal sounds, and a few basic signs. She most definitely lets you know her likes and dislikes. She does not miss a beat. She currently receives physical, occupational, and speech therapies.
Anna Grace lives at home in Western Maryland with her mother, father, and two brothers. Loving grandparents, aunts, uncles, and 9 cousins surround her. She is a very happy girl, who loves to be around family and friends. Her favorite things are riding roller coasters, going to school, and playing with her peers.