On July 5, 2011, my husband and I were told that our 2-year-old son has an invisible killer living inside his body.
Just a few short years ago, I was happily pregnant. Now, suddenly: Why? What? When? All these questions came with so few answers about a disease that few know about or understand.
That invisible killer is called mitochondrial disease. Our son’s specific mutation is called Leigh’s Disease.
We’re one of the lucky ones. It took us only a year to get a diagnosis — a year filled with anesthesia, a CAT scan, a muscle biopsy, a lumbar puncture, an MRI, an echocardiogram, an EKG, specialists and so on. Most families spend years attempting to find a diagnosis because of the complexities of DNA sequencing.
This silent killer is attacking our nation’s children at an appalling rate. According to the United Mitochondrial Disease Foundation, every 30 minutes a child is born who will develop a mitochondrial disease by age 10.