Arlington 5-year old raising awareness for rare mitochondrial disease


Ellie, right, is seen with her sister. (Courtesy Michael McGinn)

Arlington parents Michael and Beth McGinn were worried that something was wrong with their three-year old daughter, Ellie. She was having problems with her balance and frequent pain in her feet.

After nearly a year of doctor visits and searching, they got an answer that no parent wants to hear: Ellie had a rare, genetic, degenerative mitochondrial disease for which there is no known cure.

“On the paper, the diagnosis. . .said that children won’t live into their teens,” said her mother in a YouTube video the family has made. “I just remember sobbing and pleading with the doctor to please tell me there’s something we can do. Can we do something? And she just kept shaking her head.”

But for the McGinns, that was not the end.

“Our family just went into action,” she said. They decided: “We are not going to give up.”

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).

But Ellie and her family have started to educate the medical community. Last fall they went to the Johns Hopkins medical school to talk to students and faculty about Ellie’s case, her symptoms and treatment.

They hope the next generation of doctors will be better able to diagnose, treat and cure the disease.

You can visit Ellie’s Web site at www.acureforellie.org

Michael Alison Chandler writes about schools and families in the Washington region.
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