Arlington Ellie Raising Awareness of Mitochondrial Disease

18 Sep

Ellie had a rare, genetic, degenerative mitochondrial disease for which there is no known cure.   They found a team of doctors at the Kennedy Krieger Institute and the Johns Hopkins University School of Medicine who are treating their bright, outgoing now-five-year old daughter with a series of vitamin and amino acid supplements designed to increase energy production and slow the onset of symptoms associated with the disease.

Ellie is getting stronger, her father said, and just started kindergarten this fall at Abingdon Elementary.

And this week, the family is launching an awareness campaign to spur research and understanding of mitochondrial diseases like the one Ellie has. These diseases affect the part of cells that turn food into energy, and they can destroy core functions throughout the body.

Every year, an estimated 1,000 to 4,000 children in the United States are born with a mitochondrial disease, but exact numbers of the so-called “Mito-kids” are hard to pin down because the disease is not well understood and frequently misdiagnosed.

There are few cases ever recorded of Ellie’s particular strain of mitochondria disease, which was only discovered within the last decade. (It’s called leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation).

Learn more:

Read More: Washington Post