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Health: South Philadelphia Girl Defying The Odds Thanks To Research at CHOP

stephanie-web Stephanie Stahl
Stephanie Stahl, CBS 3 and The CW Philly 57’s Emmy Award-win...
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By Stephanie Stahl

PHILADELPHIA (CBS)--A South Philadelphia girl is defying the odds thanks to an experimental drug that’s giving her a new lease on life. The research that’s extending her life could one day help people with a variety of diseases.

Smiles come easily to Samantha Cammarata. It’s one of the few things she can do without help.

The 5-year-old has a rare mitochondrial  disorder called Leigh’s disease. Energy sources in the brain that control body functions get side tracked.

“It can affect daily functions, walking, speaking, two years ago it was breathing, so her brain stopped telling her lungs to breathe,” said Valerie Biscardi, Samantha’s mother.

There is no cure. Samantha’s mom said they’ve been living on borrowed time for about two-and-a-half years.

“Tough, really tough, we were told she had anywhere from one week to three months to live and that modern medicine had not yet caught up with her type of disease,” said Valerie.

But an experimental antioxidant drug is working wonders, and has improved Samantha’s life.

“She’s defying odds,” said Valerie.

Dr. Marni Falk at The Children’s Hospital of Philadelphia is doing mitochondrial research with microscopic worms to better understand mutations that are found in humans and how they respond to different therapies.

“We were able to restore the health of the cells and their ability actually to function. It’s very exciting to us that there’s a whole new tool box, if you will, of drugs that exist or could be developed,” said Dr. Falk.

She says mitochondrial research could eventually help patients with other diseases, including diabetes and Parkinson’s, but Samantha’s family knows there’s nothing available right now that could save her.

“My hope is what we’re doing or trying to do for Samantha will open doors for many other kids behind her,” said Valerie

Doctors say mitochondrial diseases can be difficult to diagnose, so they’re often missed or found late when treatment isn’t as effective. They hope to raise awareness and money for more research and better treatments.

For more information on Mitochondrial Disease CHOP Research, click here.

For more information on United Mitochondrial Disease Foundation, click here.