Jane Wright Earl Family

OTC Deficiency Awareness — Identifying Risk and Sharing Knowledge

Ornithine Transcarbamylase (OTC) Deficiency

Ornithine transcarbamylase (OTC) deficiency is a genetic condition that makes it hard for the body to break down protein.
When we eat protein, the body makes a waste product called ammonia. In people with OTC, ammonia builds up and can harm the brain.

OTC is no longer a silent killer. Once identified, it can be treated.

Genealogy

OTC is passed down from either your father or mother who are descendants of Jane Wright Earl. It has caused misdiagnoses that has led to early, unexplained deaths within our family line.

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Genetics

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A simple DNA test can help determine if you have OTC deficiency.
In the Jane Wright Earl family, the genetic marker linked to OTC is called c.-106C>A.

Treatments

Healthcare professionals can help you manage the condition with the right medications and a special diet..

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Gathering Family Members to Preserve and Improve Lives

Learn More About Our Approach

How Our Journey Began

In 2017, Baine Brady Bobka (age 7) died from what we would later know to be OTC Deficiency. His death connected us to another family and through genealogical research we found a common ancestor producing 1,200+ (and growing!) that are at risk of OTC deficiency.
Read More About Our Family Story >>

Numerous

Unexplained
Deaths

1

Family

Tree

1

Common
Ancestor

1,200 +

At risk of

OTC Deficiency

Jane Wright Earl & OTC Deficiency

The Common Link

Through genealogical research, Jane Wright Earl (1822-1913) has been medically recognized as the proband or the starting point for the genetic study of our family’s OTC deficiency. From her lineage, we have identified over 1,200 plus individuals that are at risk of OTC deficiency.

The diagnosis of OTC deficiency and/or being at risk can be daunting, but there is hope. We've compiled resources regarding testing, protocols for treatment and other helpful information.

OTC Awareness & Resources