What Is Mito?

What is Mitochondrial Disease?

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth.

When mitochondria fail, less and less energy is generated within the cell. When this happens, cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person is compromised or even ended. The disease primarily affects children, but adult onset is becoming more common.

Symptoms

Diseases of the mitochondria appear to cause the most damage to cells of organ systems that require a great deal of energy; the brain, the heart, the skeletal muscles, the kidney, the liver and the endocrine and respiratory systems. As a result, children and adults who have these diseases experience a vast array of symptoms. Although a few may have only mild symptoms like susceptibility to fatigue, others face severe problems and the potential for pre-mature death.

Elena’s symptoms include: Global Developmental Delays, Ataxia, Hypotonia, Swallowing difficulties, Acid Reflux, Cortical Visual Impairment, and Intractable Seizures.

Diagnosis

Mitochondrial diseases are difficult to diagnose, and there are very few physicians who specialize in these diseases. Diagnoses can be made through a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Despite these advances, many cases do not receive a specific diagnosis.

Tests Elena has had: Numerous Genetic tests, Spinal Tab, 2 MRIs, Countless labs, Organic Acid, and a skin and muscle biopsy. The only test that yielded abnormal results was the Muscle Biopsy, everything else came back normal.

Treatments

Currently, there are no known cures. The treatments that are available are limited, and only slow the progression of the disease in a small percentage of patients. Most treatments and medications address only symptoms of the mitochondrial disorder, not the disorder itself. Current supplements used for sufferers include Coenzyme Q10, carnitine, niacin, thiamine, biotin and riboflavin. Special diets can be helpful, but only with a thorough medical evaluation, best carried out in a center familiar with mitochondrial disease, can the optimal treatment regime be determined for each patient.

Elena’s medication and vitamin profile: Ketogenic Diet, Co-Enzyme Q10, Carnitor, B-50 Complex, Magnesium Oratate, Vitamin E, Vitamin C, Selenium. These do not include any seizure or reflux medications.

Research

The first case of mitochondrial disease was diagnosed in 1962. Forty years later, scientists and researchers are still searching for treatments and ultimately a cure. Advances in technology have allowed researchers to understand more about mitochondria and the important role they play. But beginning to understand is not enough. Research suggests genetic defects in the mitochondria may be linked to diseases such as Alzheimer’s, Parkinson’s and Huntington’s as well as to Chronic Fatigue Syndrome, diabetes, and SIDS (Sudden Infant Death Syndrome).

We need your help for research for cures and treatments New, aggressive research for rare disorders is often not underwritten by federal grants. Current estimates are that thirty to fifty thousand dollars is needed annually to make a research grant attractive to scientific investigators.

The United Mitochondrial Disease Foundation (UMDF) was formed by families affected by the disease. Part of their mission is to support research that someday will provide treatments and cures. UMDF’s Scientific Advisory Board chooses the best research for funding.

This past year, the UMDF awarded $1,018,489 for nine compelling research projects. There were 130 applicants!

If the UMDF were able to fund all the research applications they receive, they would need $20 million dollars! What would happen if they were able to fund all $20 million?

We look forward to a day when research we have funded prevents blindness in infants, strokes in young children, heart attacks in young adults, and breathing problems in adults.

Together, we can find a CURE!

To read more about the UMDF, and detailed information about mito research etc., go to www.umdf.org, and you may also visit our "Links Page" for additional resources.

SPECIAL TV NEWS STORY ON ELENA

AND HER HEALTH CONDITION