Have you ever heard of mitochondrial disease? Neither did I. That was until my son Joey was diagnosed with a form of this disease when he was just 2½ years old. At that initial meeting with Joey’s neurologist in 2006, my husband and I were told, “Your son has mitochondrial disease and only has roughly three to six months to live.” Those words will ring in my head forever.
Tiny organelles found in almost every cell in the body, mitochondria are known as the powerhouse of the cell. When an individual is diagnosed with mitochondrial disease, the cell fails to produce enough energy for the cell to function. When the cell does not function properly, it causes cell injury that leads to cell death. When multiple organ cells die, organ failure can result. Thus the disease is so deadly.
About one in 4,000 children develop this condition by the age of 10. As the spectrum of the variances of this disease is wide, the symptoms are too. Often times, kids affected display poor growth, loss of muscle coordination, neurological problems and seizures, visual and/or hearing problems, gastrointestinal disorders and learning disabilities, as well as heart, liver and kidney disease. There are many forms and a number of modes of inheritance of mitochondrial disease. There may be one individual in a family who has it, or many individuals may be affected over a number of generations.
Joey was diagnosed with a serious form of the disease caused by a mutation that had yet to be detected in any patient before December 2006. This has resulted in severe difficulties with Joey’s motor function, including walking and coordination. While there is no approved treatment for the disease, Joey is currently on a cocktail of vitamins to try to improve the function of the mitochondria and slow the progression of the disease.
Though the disease seems to come out in childhood, links between mitochondrial disease and other diseases in adults are being seen. With these connections to conditions such as type 2 diabetes, Parkinson’s disease, Alzheimer’s disease, stroke and heart disease, we are hopeful to begin to attract more attention and funding to mitochondrial disease.
After Joey’s diagnosis, we quickly realized that little research was being done in the field of mitochondrial medicine, and there was a lack of funding from government programs and private institutions. As a result, we decided to start our own organization to support ongoing research. With six rolls of stamps, 300 letters and a handful of friends and family volunteering to stuff envelopes, the inaugural fundraiser was underway. Since that first event in August 2008, The JDM Fund for Mitochondrial Research, named for Joseph Difolco Mileti and located at 1333A North Ave., #611, New Rochelle, has raised more than a quarter of a million dollars in less than three years.
While there are many great minds working to combat mitochondrial disease, funding is virtually nonexistent. Grant money from the National Institutes of Health (NIH) awarded to researchers seeking a cure is miniscule compared to funding for other childhood diseases. Funding from private sources is even worse simply for the fact that there is a lack of awareness.
Our mission is to raise awareness about mitochondrial disease and to support research centers across the United States in their efforts to find a treatment or cure. One hundred percent of the funds donated goes directly to the top researchers in the field.
Now at age 7, Joey continues to beat the odds, but struggles daily in the fight for his life. Knowing that we are on the cusp of finding a treatment is the fuel we need to keep our charity thriving. Not only is our mission potentially going to save our son, it may also save thousands of innocent children and adults.