Reanna and Malaky always knew they wanted to start a family together. They tried for a while without success—so they were thrilled when they learned that Reanna was pregnant with a beautiful baby girl, who they named Milanna. For a little while, everything seemed to be progressing well. Milanna had a brilliant smile, and could sit and crawl on her own. So her parents were never expecting what would come next: a diagnostic journey that led to Milanna being diagnosed with a mitochondrial disease. 

The BBC News reports that, on January 7, 2023, Milanna had a fever. Concerned that she might have an ear infection, her parents took her to the doctor for treatment. Suddenly, Milanna’s condition deteriorated. She had a long seizure which frightened her parents. Even more frightening was the fact that the seizures began coming frequently: every two hours or so. The doctors recommended that Milanna undergo further testing, which discovered her mitochondrial disease. Unfortunately, the doctors didn’t know much about her condition. They told Reanna and Malaky that there was no way to tell whether Milanna would live a few weeks or a few years.

Currently, there is a treatment option available in the United Kingdom—but Milanna is not eligible for treatment as she has not been deemed “sick” enough. Her parents raised almost £20,000 (approx. $24,911) to travel to the United States, meet with mitochondrial disease experts, and begin treatment. They hope that this will not only reverse the developmental regression Milanna has experienced, but will prevent further complications in the future. 

Mitochondrial Disease: Fast Facts

• Mitochondria are the powerhouse of the cell. They play a role in making energy.
• A mitochondrial disease or disorder is a condition caused by mutations in mitochondrial DNA (mDNA) or nuclear DNA (nDNA) that cause mitochondrial dysfunction. This means that the mitochondria don’t work properly or produce enough energy. 
• Mitochondrial diseases are inherited. 
• Because mitochondria are found throughout the body, almost any bodily system can be affected. 
• Barth syndrome, Complex I deficiency, and mitochondrial encephalopathy are three types of mitochondrial disease. For a more comprehensive list, head here. 
• Symptoms of mitochondrial diseases can include muscle weakness, seizures, autism spectrum disorder, vision or hearing problems, developmental delays, diabetes, dementia, poor growth, loss of muscle coordination, and heart, liver, or kidney disease (among others). 
• It can be difficult to diagnose mitochondrial diseases and many people are mis- or undiagnosed. 
• Treatment options aim to relieve symptoms and stop disease progression.