Nicholas's StoryNicholas Nunno is a wonderful boy who lives in Rutherford, NJ. He was born premature and in respiratory distress, and spent three weeks in the NICU. At one month he had to have dual hernia surgery. He did not crawl, walk or talk at normal milestones. At two years of age after months of grueling testing, he was diagnosed with a mitochondrial disease. Within the past ten years, he has spent dozens of nights in the hospital, had pneumonia six times, been on respirators and had two dangerous lung surgeries. He has gone through hundreds and hundreds of hours of therapies and worked harder than any child we know. Recently he was diagnosed with cardiomyopathy, a direct result of his mitochondrial disease.
What is mitochondrial disease?
Mitochondrial disease is a rare, commonly fatal, genetic metabolic disorder that has NO CURE. As said before, mitochondria are the powerhouses of the cells. “Mito” disease causes the mitochondria to not work properly. If the mitochondrial are defective, then the body cannot function normally. Picture a city that has a faulty power generating station. Lights would dim, sewer pumps would fail, and the city would fall into ruin. This is what happens to a child with a mitochondrial disease. Common symptoms can include brain damage, cardiopulmonary issues, severe muscle weakness, visual impairment, swallowing problems, digestive issues, among other things. Mitochondrial disease is thought to be linked to Parkinson’s, diabetes, Alzheimer’s and heart disease.
What are mitochondria?
The mitochondria (plural for mitochondrion) are part of every cell in the body that contains genetic material. Mitochondria are responsible for processing oxygen and converting the food we eat into energy for essential cell functions.
Mitochondrial disease is diagnosed through a long series of tests including but not limited to MRI, MRS, spinal tap, metabolic testing, blood tests, EKG, EMG and muscle, skin and nerve biopsies. Diagnosis could take months to years.
There is no cure for mitochondrial disease. Current treatments can sometimes slow its’ progression. Mainly, the symptoms are treated. Vitamin and enzyme therapy like CoEnzyme Q10, L-Carnitine, C, D, and E may help. Physical, Occupational and Speech therapy may also be helpful to some patients.