The Luca Gargiulo Pearson Foundation

Pledge to find a cure for Pearson Syndrome

Donate

Research

Fundraising to support new and ongoing trials and treatments to find a cure

Support

We are here to share helpful resources, educational information and caring support

Hope

Be Strong. Have Faith. And Never Give Up.

What is Pearson Syndrome?

Pearson Syndrome is a genetic disease caused by the change in the mitochondrial DNA. With these mutations, it can make it hard for the cells of the body to create its own energy. Mitochondria make the energy for the cells in our body by combining oxygen with sugars and fats that come from the food we eat. Changes in the mitochondrial DNA make it hard for the cell to make energy. This syndrome affects many parts of the body but especially the pancreas and bone marrow that produce red blood cells, white blood cells and platelets. Having few red blood cells (anemia), white blood cells (neutropenia) or platelets (thrombocytopenia) can cause a child to feel weak or tired, be sick often, bruise easily and make it hard for bleeding to stop. The child can also have frequent diarrhea and stomach pain, trouble gaining weight and diabetes due to the pancreas not functioning properly. Some children with Pearson Syndrome may also have problems with their liver, kidneys, heart, eyes, ears and/or brain. This syndrome is hard to detect and can be diagnosed through genetic testing. Treatment options include frequent blood transfusions, pancreatic enzyme replacement therapy and treatment of infections.

Chelsea, Thomas, Opie and Luca Gargiulo

About Us

The Luca Gargiulo Pearson Foundation will support and offer financial research and development to help find a cure for Pearson Syndrome.

Learn More