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Our Family Story

A Note from the Jane Wright Earl Foundation

Our family tree has a tragic history of unexplained symptoms and deaths that spans seven generations. Each generation of family members exhibited symptoms that can now be attributed to signs and symptoms of an OTC deficiency crisis, but at the time they were not understood. During this time period, there was no understanding of these illnesses, and our ancestors were left to suffer and die without proper treatment.

However, as we looked deeper into our family tree, we discovered a common ancestor who has passed down the metabolic genetic disorder known as OTC deficiency. With this information, our mission is to locate and identify at-risk family members, offer testing, and provide treatment options for those at risk for OTC deficiency. Our common goal is to prevent future deaths and improve the lives of those in our family who have inherited this genetic legacy. We are committed to ending the cycle of tragedy and suffering in our family and creating a brighter future for future generations.

Timeline

Nov 2017

Baine Brady Bobka, age 7, was admitted to the ER. He died soon after with a diagnosis of OTC deficiency. Read more here. 


Baine's passing prompted our involvement with OTC deficiency. As a result, family members engaged in conversation, and we began tracing our family tree backwards in search of patterns. Through this research, it became clear that there was a pattern to the deaths of different family members. We eventually traced the genetic disorder known as OTC deficiency back to a common ancestor, Jane Wright Earl (1822-1913). This discovery has not only motivated us to better understand our family history, but it has also accelerated our efforts to locate and identify potential carriers.

April 2018

Gene sequencing technology became available and provided information of the entire DNA molecule of our family’s mutated gene. Further blood tests identified the markers on the gene and pinpointed where the defect is located. As a result, Jane Wright Earl was medically recognized as the proband—or the starting point for the genetic study of this type of OTC deficiency.

The Jane Wright Earl OTC deficiency is medically identified as c.-106C>A.

2018-present

Testing continues among Jane Wright Earl descendants.

In 2022, we teamed up with a medical genetic genealogist to complete the building of our family tree and to identify potential present-day at risk individuals of OTC deficiency. Our objective is to provide testing and treatment options to these people.

OUR MISSION:
That all that are at risk of OTC would know the tools and resources available to fight this disorder and have quality of life.
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