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March 14, 2004

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Local woman suffers from rare mitochondrial disease

03/14/04

By O'Nan Messenger-Inquirer

has to ride an elevator to go downstairs in the new home her parents recently built in Daviess County.

Her bed and the kitchen chairs are built high off the floor so she can get up from sleeping or sitting without using a lot of muscles.

"I don't go anywhere," said. "If I have to, there is excruciating pain. I don't have good days, but mornings are best because I tire easily."

Because she has a mitochondrial disease, , 20, spends most of her waking hours curled up on the couch in the living room of her parents' home on Ridge Creek Road. The former Daviess County High School student first started feeling the effects of the disease when at 15 she just wanted to sleep all day and all night. "The doctors thought I had mono," she said. In 2002, doctors discovered that the mitochondria in 's cells were severely depleted. Photo by Emord-Netzley, M-I

, 20, was born with a cellular defect, or mitochondrial disease, that began showing up when she was 15. Before that she was very active and seemingly healthy, with only one bad month a few years earlier. Then she wanted to sleep all the time and doctors thought it was a virus.

But on April 26, 1999, she began sleeping all day and all night, only getting up to eat and use the bathroom. That lasted a year and her parents took her from doctor to doctor seeking help.

"She was too sick to go to school one day, and she never went back," her mother, Janet , said. From that time on, got her lessons from school every few days and finished high school from home.

Dr. Bruce Cohen, a pediatric neurologist at Cleveland Clinic Foundation in Ohio, said mitochondrial diseases are difficult to diagnose because that subject matter is not being taught in medical schools, except in first semester biochemistry.

"There is no clinical application for these diseases in the medical school setting," Cohen said. "They were once thought to be so rare, a physician could go a whole career without seeing a mitochondrial disease. But we are finding out that these are more common than previously recognized."

Mitochondria are small organelles in cells that produce most of the energy needed to grow and sustain life. A mitochondrial disease results when there are not enough of the tiny organelles working properly.

At Kosair Children's Hospital in Louisville, the s were told in May 1999 that their daughter had a form of mononucleosis. They told her to go home and it would pass in about a month, Janet said.

As the months passed, doctors at Kosair changed the diagnosis to chronic fatigue syndrome. The s began taking their daughter to Vanderbilt Hospital in Nashville, a sleep lab in ville and a chronic fatigue specialist in North Carolina.

"We were sending blood for testing to California, grasping at anything to get a diagnosis," Janet said.

When was awake and studying, she was also searching the Internet for some clue to her problem. In early 2000, she suddenly stopped sleeping. But the headaches, muscle pain and lethargy remained.

"I feel excessively sleepy -- sedated, but my brain won't go to sleep anymore," she said. "I dream and wake, dream and wake all night. It is unrefreshing and I have increasing weakness."

In spring 2000, a pharmacist suggested that be tested for a genetic illness by checking for an accumulation of lactic acid in her body. Her pediatrician, E. Danhauer, found out what blood tests to order and what laboratory procedures needed to be performed.

The metabolic lab reports showed a deficiency of carnitine, which is a naturally occurring amino acid that feeds organs and muscles and removes toxins from the body. Those results were proof that had a mitochondrial disease.

Through research and a support group, learned of Cohen in November 2002, who specializes in mitochondrial and metabolic disorders. His lab tests revealed that had low carnitine in blood but large amounts in urine. Her body was not using carnitine but was passing it out of the body.

A skin biopsy in March 2003 showed that, even with the maximum dose of oral carnitine, 's body was still getting rid of carnitine rather than absorbing it. In April, a catheter line was inserted into her heart so she can receive direct infusions of carnitine three times each day.

Cohen said many patients suffer a year or more with a mitochondrial disease before a diagnosis is made because there is not a lot known about them.

"Physicians get many complaints about fatigue that could be from depression or a thyroid problem," he said, adding that only a few would be candidates for screening for a mitochondrial disease.

There is no cure, only treatment of symptoms for mitochondrial diseases. Only about 2,000 people worldwide are diagnosed with carnitine deficiency and only about 70,000 Americans are diagnosed with one of the 40 known mitochondrial diseases.

said she found a great deal of relief after getting a diagnosis because it led her to a support group through which she made friends all over the country.

"It isn't a mistake that I have this," she said. "Everything has a reason even though you don't know what that reason is today. But God knows your DNA before you are born."

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To learn more about mitochondrial diseases and research efforts, contact the United Mitochondrial Disease Foundation in Pittsburgh at or go online at www.umdf.org.

March 14, 2004