The disease has symptoms that are similar to other, more common diseases. It has no cure, and the most recent statistics indicate one in 2,000 babies may exhibit some of its features.
Sounds like something the public should be aware of, says the United Mitochondrial Disease Foundation. That’s why the foundation and its members were pleased to hear that the Pennsylvania General Assembly designated this week as Mitochondrial Disease Awareness Week.
“It’s not going to be one of these ‘mito-what?’ It’s not going to be something from outer space when somebody talks about it,” said foundation spokeswoman Kara Strittmatter.
Mitochondrial disease – brought on by defects in the mitochondria, the “powerhouse” of a cell – can cause problems in the brain, nerves, muscles, liver and eyes and more. Researchers also theorize that mitochondrial failure may play a role in Alzheimer’s disease, stroke, diabetes and heart disease. It is inherited through either parent, although some individuals can be carriers and never see the disease manifest itself. When it does, it’s typically when the patients are children.
Symptoms stemming from the brain include developmental delays, mental retardation, dementia and seizures. In the nerves, there can be absent reflexes, gastrointestinal problems, and fainting. In the muscles, weakness, cramping and muscular pain can be present. Hypoglycemia (low blood sugar) and liver failure can occur in the liver. Visual loss and blindness can occur in the eyes.
Fighting back: For Lou Castriota, Jr., who is a foundation member, learning that the disease had been recognized by the legislature was an important step in the battle against it.
“A lot of people haven’t come in contact with anyone with the disease don’t understand it, (but) it affects a lot of people,” he said. “My hope is that by creating awareness, people will donate more money for research so that a cure can be found.”
The week is also important if a parent senses that something is wrong with their child, but is not sure what it is, that they may be compelled to have their child examined, in the event they may be suffering from mitochondrial disease.
Therapies include exercise regimens, vitamin cocktails to boost cell function, and various medications to control symptoms. However, there are no FDA-approved drugs that target mitochondrial disease.
Castriota’s 7-year-old daughter, Brooke, suffers from mitochondrial disease. His search for the various therapies that Brooke needed led him to develop a plan for a comprehensive child therapy facility, called Leg Up Farm.
Leg Up Farm was incorporated as a non-profit in the fall of 1997, just months after Brooke’s diagnosis, said Castriota, 33, of New Freedom, who is a general sales manager with FOX 45 in Baltimore.
The facility will offer traditional therapies like occupational and physical therapy, as well as less traditional programs such as horseback riding. The 77,000 square-foot facility will be built on a portion of an East Manchester Township property owned by Barbara Warren.
Castriota said the project’s land development plan is being developed, and will be presented to the East Manchester Township Planning Commission on Jan. 27. He’s also waiting for Gov. Ed Rendell to release $4.56 million in capital redevelopment funds. Through fundraising efforts, Leg Up Farm will then match that funding, to accumulate the $9 million necessary to build the facility.
U.S. News and World Report contributed to this report.
To learn more
To contact the United Mitochondrial Disease Foundation, call 412-793-8077 or visit
www.umdf.org
By TED CZECH,
The York Dispatch/Sunday News