Mitochondrial disease is life-threatening, genetic
Kelly Deasy knows at least two of her four young children have a life-threatening, genetic disease that affects every cell in their bodies.
But it's what she doesn't know about mitochondrial disease, caused by problems with the cells' energy production, that scares her most.
"Just not knowing is the hardest part -- not knowing what it's going to do and when it's going to do it," said Deasy, 30, of Westwood.
The oft-misdiagnosed disease strikes people in a variety of ways. It has been linked to 400 diseases, including cancer, heart disease, Parkinson's, cerebral palsy, blindness and deafness. Diagnosis of mitochondrial disease requires problems with at least three major organ systems.
From 1 in 1,000 to 1 in 5,000 people have mitochondrial disease, depending on how the condition is defined, something that medical experts still are working out, said Dr. Rajiv Varma, chief of pediatric neurology and vice chair of pediatrics at Mercy Hospital, Uptown.
An international conference, which ended Saturday, drew about 350 researchers, scientists and families of people suffering from the disease to the Westin Convention Center Hotel, Downtown.
Proven treatments, let alone a cure, have not been found. The disease's progression is uncertain. People can be relatively healthy for extended periods, then suddenly be struck hard and deteriorate rapidly.
"In the long haul, this is a disease people will die from," said Dr. Amy Goldstein, a child neurologist at Mercy who treats the Deasy children.
Magnetic resonance imaging, blood tests, biopsies and other tests often are inconclusive, Varma said.
"You take three specimens from one patient and send them to three different labs all around the world, and you can get three different results," he said.
Most often affected are the brain, muscles, heart and digestion, which require the most energy to function properly, Varma said. Abnormality with the mitochondria, the cells' power, effects every cell, but not necessarily to the same degree, he said.
Deasy worries that she and her husband, Daniel, 38, a city public works foreman, and their four children all could be struck by the disease. Doctors believe both parents carry the gene.
The couple had never heard of mitochondrial disease until their son, Thomas, 2, was diagnosed a year ago. Immediately, they knew that was the cause of the cerebral palsy their daughter, Danielle, now 3 1/2, had been diagnosed with two years ago.
Danielle and Thomas both suffer from extreme muscle weakness, acid reflux and "failure to thrive" -- problems gaining weight and height and wear braces on their feet. They regularly see a long list of specialists, undergo therapy, get daily breathing treatments and take a host of medications, vitamins and supplements.
Abigail, 2 1/2 months, has symptoms of mitochondrial disease, but they also could be attributable to her premature birth.
Neither the Deasys or their oldest child, Alyssa, who turns 5 this month, have any symptoms, but the disease can strike at any time.
Experts say researchers are caught in a Catch 22: Federal research dollars often are allocated based on the number of people affected, but because the federal government has not given the disease a diagnostic code for death certificates and medical insurance forms, numbers can not be counted.
The National Institutes of Health is not required by Congress to keep track of research funding of mitochondrial disease, but does fund "quite a bit of research" into it, said spokesman Paul Girolami.
The Pittsburgh-based United Mitochondrial Disease Foundation awarded $863,000 in grant money this year.