Our Work
Genealogy
Locate Those At Risk for OTC
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Genetics
Identify Those At Risk through Testing
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Pharmaceutical Treatments
Treat Patients / Save Lives
Genealogy, Genetics and Pharmaceutical Treatments
A Layered Approach to Treating a Rare Disorder
When OTC was revealed as the culprit for so many unexplained and vague deaths that lingered in our family, we knew we had to take action. Thus began a very organic plan of action involving our family tree and a trusted geneticist. What resulted is a new approach combining genealogy, genetics and pharmaceutical treatments for a rare genetic disorder.
More Than Traditional Genealogy
After learning of another case of OTC, genealogical research determined the origin to be Jane Wright Earl (1822-1913). With this information, we began to build her descendant tree.
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We needed to only follow the X chromosome hereditary pattern, and because our interest was reaching possible present-day individuals at risk of OTC, we sought the help of a medical genetic genealogist. So far, we have identified over 1,200 possible individuals at risk of OTC deficiency and counting.
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Genetics: The Importance of Testing
Since our family learned of the OTC diagnosis in 2018, we've worked closely with geneticist, Dr. Nicola Longo, to learn more about this disorder and its protocols for treatment. Additionally, we have encouraged members within our close family to be tested.
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As of now, from the 430 potentially positive candidates to be at risk (meaning they were in the direct line of the X chromosome hereditary pattern), 42% are in fact carriers. Because OTC has very vague symptoms and is hard to diagnose upon routine medical care, testing is crucial. It can not only improve quality of life, but also save lives.
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Pharmaceutical Treatment: A New Way to Identify a Patient Base
Research is often abandoned on so many drugs because they lack the patients that would benefit. What if a family tree was the key to finding a patient base for an orphan drug? It's possible.
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After identifying those at risk, we encourage them to test with geneticists. If they are in fact carriers, our hope is that they can access the treatment they need for a long, healthy life.
Looking Ahead
Continue Building the OTC Tree
Genealogical research is tedious work, but we are committed to building out the OTC Awareness tree and Jane Wright Earl's descendants. We are even incorporating DNA matches of known at risk persons to further fill in the gaps. In addition, we are looking at Jane's siblings and their descendants as possible at risk persons of OTC as well.
Campaign to Reach Carriers
In Q1 2024, we plan to launch a campaign to notify as many at risk individuals as possible via various channels to raise awareness of OTC. Our goal is to provide knowledge and power that will enable them to prevent unnecessary deaths from OTC deficiency.
Applying This Approach to Other Rare Disorders
It is our hope that this work does not stop with OTC, but can be used for other orphan diseases. We are working closely with geneticists and others to learn more about other illnesses that may benefit from this approach.