Mitochondrial disease is a complex, underdiagnosed disease that may appear anytime – at birth, in the teen years or, as an adult. The disease can attack at any age and has links to other more familiar disorders: Autism, Parkinson’s, Alzheimer’s, Lou Gehrig’s disease (ALS), muscular dystrophy. We’re learning it’s not at all rare. But, due to a lack of physician and public awareness, mitochondrial disease is not often diagnosed.
Grace was born prematurely and when she and her twin brother reached 18 months, her parents knew something was terribly wrong. She had difficulty breast feeding, GI problems and did not talk until she was 3½ years old. Every specialist had a different diagnosis. One said Cerebral Palsy, another thought Autism and a third said it was Developmental Delay. They were off the mark. Grace has mitochondrial disease. For many of you, she is its traditional face.
From the outside, you would never know that Colby has mitochondrial disease. When he practiced and played football games, he would get sick during and after each. Now that he’s been diagnosed, he knows mitochondrial disease is just something in his life he has had to learn to manage on a daily basis.
Susan is like so many of us. The mother of two boys, her life has had its ups and downs. An unexpected twist in her journey occurred only a few years ago when mitochondrial disease limited her mobility and she struggled to walk. A variety of medications have given her hope and though not cured, she can walk more confidently…”to walk without thinking is amazing.”