Community Rallies as Girl Fights Rare Illness

April 15, 2009 — -- As Darlene Colclasure waited for her student Taylor Ramey at the local shopping mall in Asheville, N.C., she considered what kinds of shoes the two might look for for Taylor's upcoming prom.

"Silver, I think," Colclasure said. "To match the sparklies on her dress."

As one of Taylor's dedicated assistants at Clyde A. Erwin High School in Asheville, Colclasure is doing her best to offer some support to the 16-year-old and her family after the death of Taylor's twin sister Brittney last Friday.

Colclasure is just one of many people in the Asheville community to rally around the Rameys and offer help and support at a time when the outlook for the family is bleak.

Brittney died after a six-year battle with a rare genetic disease called myoclonic epilepsy with ragged red fibers, or MERRF. And as rare as it is, it is a disease that will almost certainly claim Taylor's life as well in about a year.

"She was an extremely courageous girl," said their father, Gary Ramey, 61, of Brittney.

"She had a sharp wit. ... She didn't ask 'Why me?'"

A Rare Disease

MERRF is a disease that affects the mitochondria -- the energy factories of the cell. The condition inspires questions because it is rare. The disease affects only two to 15 people in a million, making it difficult to gather a large enough sample size to study.

And while mitochondrial diseases may not be serious if only a small percentage of the body's mitochondria are affected, after a critical mass of mitochondria are mutatated, the disease can progress rapidly and is fatal.

"The severity of the disease varies from mild to terrible," said Dr. Salvatore DiMauro, professor of neurology at Columbia University Medical Center in New York.

The Ramey family experienced the full range of MERRF.

"Until they were 10, medically speaking, they had a perfect existence," said Ramey, who could not recall the twins having so much as an earache as children. But one evening Britney complained of a "jerking" sensation in her head.

"Over the course of four months it amplified into grand mal seizures every four days," Ramey recalled.

Brittney was treated for epilepsy but she did not respond well and the family's neurologist suggested a genetic test. Several months later, the clinic called to explain what MERRF was.

A Baffling Diagnosis

"It takes away your ability to do just about everything," Ramey said, describing the tremors, seizures, and loss of muscle control that Brittney began to go through. "You don't think about it, but when we talk our lips are muscles. Our voice box is muscles. The ability to swallow food or water is muscles."

Epilepsy, seizures and loss of muscle control can be classic symptoms of mitochondrial diseases like MERRF. People with MERRF are often of short stature and and can lose their vision and hearing as the mutated mitochondria are not able to provide enough energy for cellular functions to be carried out properly. After a prolonged period of suffering symptoms, dementia can set in.

"Why mitochondrial diseases are so confusing and so baffling is because they can cause everything," DiMauro said.

Everything, in this case, ranges from diabetes to brain disorders to muscle degeneration.

The multitude of symptoms is one of the reasons that mitochondrial diseases like MERRF are often misdiagnosed, as Brittney's was, before a genetic test can confirm the true nature of the illness. Most treatment is centered on managing symptoms, such as with anti-seizure medications or blood sugar control in the case of diabetes.

"With genetic medicine, we know exactly what the problem is, but we can't make even an educated guess as to what the medicine should be," said Dr. Jeff Nobels, professor of Neurology, Neuroscience, and Molecular Genetics at Baylor College of Medicine in Houston. "Maybe it hasn't been invented yet."

A Normal Life

Attending school and participating in extracurricular activities have been an important way for Brittney and Taylor to cope with their disease.

Both girls attended high school and took therapeutic horse riding lessons. Brittney was particularly fond of dogs and volunteered at the local humane society. Family trips included canoeing with alligators in Florida and swimming with sharks in Hawaii.

"Despite their medical situation, they're just kids, they're teenagers," Ramey said. "Those people really supported the girls. As much as we tried to provide for them, the community did as well."

Community Support

A woman Ramey said he had never met before came to the family's home the day before Brittney died with two roasted chickens, two hams, five three-pound packages of ground chuck and eight packs of Ballpark Franks, the family's favorite brand.

"That was a powerful moment," Ramey said. "That a total stranger just wanted to help out because she recognized the pain and grief we were going through."

The mystery woman was not the only one who came to the Ramey's house bearing food and condolences. Ramey said people have been coming to see the family at home and in the hospital for about a week.

Though she is about two minutes younger than her twin, the course of Taylor's MERRF is progressing roughly one year behind Brittney's schedule. Her first seizure occurred 15 months after Brittney's, and she was diagnosed and treated properly right away.

Gary said she can walk a little bit but is still mostly wheelchair-bound. Her ability to speak, though affected, is better than her sister's, though Taylor is legally blind.

"[Taylor] sees that practically everything her sister went through, she's going to go through. I think that's an awful hard burden to carry," Ramey said. "On the flip side, she's a pretty happy child. She's going to the prom. We've not restricted them in any way."

Colclasure concurred that everyone familiar with the Ramey family is doing what they can to keep the girl's spirits high.

"Everyone's trying to keep [Taylor] busy," she said. "Not let her sit home and be sad."

While there are no treatments for mitochondrial diseases, including MERRF, DiMauro said researchers are experimenting with techniques to bypass mutated gene sequences or increase the number of healthy mitochondria in the body before the fatal, critical mass of mutated mitochondria is reached.

"Things are moving, but they are moving slowly," DiMauro said.

Despite the ordeal, Ramey insists that good things have come from his daughter's diseases, including how close the family is, and that education about the disease is extremely important.

"It doesn't mean the end of the world," Ramey said. "You have a choice to let the disease rule you, or you rule the disease.

"You can have a fruitful life. Maybe it's not as long as you'd like, but you can still reach for it."