After a Childhood Plagued by Illness, This Woman Was Finally Diagnosed With Mitochondrial Disease

According to a story from Wales Online, Samantha Josey’s childhood was characterized by unpleasant symptoms and health problems, resulting in hospital visits and bouts of serious illness. Her symptoms included abdominal migraines, vomiting, irritable bowel syndrome, and many others. It was only at age 29 after an eight year long ordeal that Samantha was ultimately diagnosed with mitochondrial disease. 

About Mitochondrial Disease

Mitochondrial diseases are a group of genetic disorders that causes the mitochondria not to function properly. The mitochondria are an essential organelle that is found in most types of cells in the body, with red blood cells being the only exception. They are responsible for generating energy for the cell. Mitochondrial diseases are usually caused by mutations of the mitochondrial DNA or the nuclear DNA. Symptoms tend to be the worst when the issue affects cells that use a lot of energy, such as the muscles or parts of the brain. These symptoms affect many aspects of bodily function and include poor growth, poor muscle coordination, dementia, neurological issues, muscle weakness, breathing disorders, vision problems, digestive disorders, hearing problems, disease of the kidney, liver, and heart, and learning disabilities. Treatment options are limited in number and in their effectiveness. To learn more about mitochondrial diseases, click here.

Samantha’s Story

As a child, Samantha’s varied symptoms consistently confounded her doctors and kept her ill for sometimes weeks at a time. The first clue that caused doctors to realize that something unusual was going on was during a routine exam with an optician who noticed that one of her pupils was larger than the other one. Further examination by an ophthalmologist revealed that her eyes lacked the normal range of movement. 

What followed was years’ worth of varied tests and procedures, most of which came back negative. Ultimately, she was determined to have a form of mitochondrial disease called single large scale mtDNA and chronic progressive external ophthalmoplegia. She still deals with difficult symptoms such as chronic migraines, severe fatigue, muscle weakness, and digestive issues. The doctors determined that the disease had not been inherited.

In 2018, Samantha’s challenges forced her to medically retire from her job in police forensics. Learn more about Samantha’s story here.


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