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Challenges don't slow little girl

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By Vince Luecke

Weekend MDA Telethon provides hope for children like 2-year-old Ella

TELL CITY - Ella Miller is everything most 2-year-old girls should be: rambunctious, adventurous and full of questions. Ella is all of that to her parents, Scott and Lisa Miller of Brushy Fork Road, and her big sister, 8-year-old Maryann.

But there's more to Ella's story. She suffers from mitochondrial myopathy, a disorder of the body's cells that has brought plenty of challenges. Like others with similar muscle conditions, Ella's arms and legs are weaker than they should be. She tires easily, has trouble swallowing sometimes and wears special shoes that help keep her ankles in the proper position.

Several mitochondrial disorders affect different parts of the body. At their root are the mitochondria, specialized compartments in most cells of the body that serve as tiny energy factories. The disorders limit the ability of the cells to make energy, something muscles need.

Scott and Lisa grew concerned when Ella missed some of the developmental milestones doctors and parents look for in infants. She had trouble sitting up by herself and, later, found standing difficult. As a family nurse practitioner, Lisa was knowledgeable about the progress Ella should have been making in her first year of life.

"At first we just thought she was a lazy baby but knew something was wrong," Lisa said. A skin and muscle biopsy helped lead to the diagnosis of mitochondrial disease. That set the family on the road of learning more about the disorder and what it would mean for their daughter.

Mitochondrial disorders like Ella's are inherited and are caused by mutations or changes in genes, the road maps for cells. It's possible Scott and Lisa are carriers of the myopathy gene and passed them to Ella. Both parents were adopted as infants and don't have family histories to explore.

Ella's doctors discovered she had very low levels of carnitine, an amino acid. Scott and Lisa began giving their daughter a supplement containing carnitine and that helped boost her energy level. Therapy each week also helps her motor skills and increases her ability to swallow, since the muscles controlling swallowing are affected by her disease.

Still, there are challenges and the future could bring more. Ella tires easily and sleeps more than 12 hours a day. Doctors also believe there is a risk of seizures in the future. Brain cells, too, have mitochondria, and are affected.

But Ella has done well this year and her doctors have been pleased. Scott and Lisa watch their daughter carefully for colds and other childhood conditions since even common illnesses can be serious. Ella also has a low tolerance for heat, making it uncomfortable for her to be outside during summer. "Wait until winter," big sister Maryann urges.

The Miller family will be watching this weekend's Muscular Dystrophy Association Telethon, hosted each year by Jerry Lewis. A film crew from Channel 14 in Evansville visited last week and a segment on Ella will air sometime this week.

Telethons held each Labor Day weekend raise money to fight muscle-impacting disorders like Ella's. Lisa said MDA may be able to provide a wheelchair-stroller for Ella, something that will come in handy during a planned vacation to Disney World. This year's telethon begins at 8 p.m. Sunday and continues into Labor Day. A column by MDA chairman Jerry Lewis can be found in our Opinion section.