What is Alpers disease?
Alpers, also known as Alpers-Huttenlocher Syndrome, is a rare genetic disease that largely affects the mitochondria of the cell. The mitochondria is the powerhouse of the cell, it is the main energy hub for organ functions in the body. Alpers is caused by a mutation to the POLG gene in the mitochondria affecting the energy supply needed for basic growth and development.
As a child’s body grows, a child with Alpers does not have the energy needed to sustain basic functions. Thus, leading to progressive degeneration of the brain developmental, loss of motor skills, and liver dysfunction.
The brain, muscles, and liver are affected the most as these organs need a large amount of mitochondrial energy to function. At initial onset, Eloise lost vision and hearing. Although both of those functions were restored her greatest battle was seizure management.
How many people are affected by Alpers disease?
According to Cleveland Clinic, 1 in 100,000 individuals are affected by Alpers disease.
Most patients are diagnosed between the ages of 2 and 4. In Eloise’s case she was diagnosed at 10 months old.
Is there a cure?
Sadly, there is no cure. Treatment focuses on managing symptoms, such as seizures, and providing supportive care.
Where can I learn more about Alpers and other mitochondrial diseases?
