Little-known disease getting some attention

Five-year old mitochondrial disease patient Caroline Pulliam tugs on the tie of state Sen. Harvey Peeler (R- Cherokee) on Tuesday. Peeler and other state legislators passed a resolution recognizing the third week of September each year as Mitochondrial Disease Awareness Week. Little is known about mitochondrial disorders aside from its debilitating effects on one in 4,000 children in the United States.

Claiming their sight and hearing, patients often also experience gastrointestinal problems, seizures and developmental delays, defects making it difficult for their transition into adulthood.

Previously, the disease had not received much attention, rarely being properly diagnosed by doctors and other health professionals.

But with the help of a local child health care organization, state legislators hope recognizing seven days in September as "Mitochondrial Disease Awareness Week" will bring greater awareness to the disorder and provide better opportunities for early intervention.

Members of the Carolina Foothills chapter of the United Mitochondrial Disease Foundation (UMDF) persuaded the South Carolina General Assembly to pass a resolution in April designating the third full week in September toward educating the public about the illness.

State Senators Harvey Peeler (R- Cherokee) and James Ritchie (R- Spartanburg) spearheaded the effort among their peers in Columbia, also gaining support from Rep. Dennis Moss (D- Cherokee).

Local UMDF board member Elizabeth Connelly is especially happy about the resolution, as her 5-year-old cousin was diagnosed with the disease.

"The other members of the board and I are extremely grateful to Sens. Peeler and Ritchie and Rep. Moss for their willingness to be advocates for the passage of the resolution recognizing 'Mito Week,'" Connelly said. "My cousin, Caroline Pulliam, is affected with a mitochondrial disorder, so this issue is a very personal one for our family."

Mitochondria, specialized structures inside most cells in the human body, create 90 percent of the energy needed to sustain life and support growth. When not functioning properly, an array of symptoms occur throughout the body, causing all its systems to fail.

Currently, there is not a cure for mitochondrial disease. Though most will be diagnosed prior to the age of 10, persons of all ages can be afflicted.

Connelly and others are hoping such awareness will make life easier for those affected by the disorder in the future.

"Many doctors have never treated the individual illnesses that make up the spectrum of mitochondrial diseases and are not able to manage care of these children," Connelly said. "But increased awareness by the medical community and the general public will bring earlier diagnoses for affected children and better opportunities for them to lead more fulfilling lives."